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    TTN titin [ Homo sapiens (human) ]

    Gene ID: 7273, updated on 3-Dec-2024

    Summary

    Official Symbol
    TTNprovided by HGNC
    Official Full Name
    titinprovided by HGNC
    Primary source
    HGNC:HGNC:12403
    See related
    Ensembl:ENSG00000155657 MIM:188840; AllianceGenome:HGNC:12403
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TMD; CMH9; CMD1G; CMPD4; CMYO5; CMYP5; EOMFC; HMERF; MYLK5; SALMY; LGMD2J; LGMDR10
    Summary
    This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012]
    Expression
    Biased expression in heart (RPKM 14.7), prostate (RPKM 1.9) and 1 other tissue See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TTN in Genome Data Viewer
    Location:
    2q31.2
    Exon count:
    364
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (178525989..178807423, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (179008783..179290485, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (179390716..179672150, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12150 Neighboring gene uncharacterized LOC124907911 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16805 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12151 Neighboring gene FKBP prolyl isomerase 7 Neighboring gene pleckstrin homology domain containing A3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179387607-179388119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16807 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16808 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16809 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16810 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:179401104-179402303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16811 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179407630-179408829 Neighboring gene TTN antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:179440205-179441404 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179443309-179444508 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179456337-179457536 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:179471933-179473132 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:179478848-179480047 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:179485777-179486976 Neighboring gene MPRA-validated peak3948 silencer Neighboring gene uncharacterized LOC124906100 Neighboring gene uncharacterized LOC124907912 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:179588362-179589561 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:179591393-179592592 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:179593794-179594993 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179595719-179596918 Neighboring gene uncharacterized LOC124906101 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179611985-179613184 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:179638309-179639508 Neighboring gene uncharacterized LOC101927055 Neighboring gene coiled-coil domain containing 141 Neighboring gene RNA, U7 small nuclear 104 pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:179735609-179736808 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:179738995-179740194 Neighboring gene uncharacterized LOC105373766

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Autosomal recessive limb-girdle muscular dystrophy type 2J
    MedGen: C1837342 OMIM: 608807 GeneReviews: Not available
    Compare labs
    Dilated cardiomyopathy 1G Compare labs
    Early-onset myopathy with fatal cardiomyopathy
    MedGen: C2673677 OMIM: 611705 GeneReviews: Salih Myopathy
    Compare labs
    Hypertrophic cardiomyopathy 9
    MedGen: C1861065 OMIM: 613765 GeneReviews: Not available
    Compare labs
    Myopathy, myofibrillar, 9, with early respiratory failure Compare labs
    Primary dilated cardiomyopathy Compare labs
    Tibial muscular dystrophy Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-08-02)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2021-08-02)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.
    EBI GWAS Catalog
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    EBI GWAS Catalog
    Genetic variants associated with breast size also influence breast cancer risk.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ26020, FLJ26409, FLJ32040, FLJ34413, FLJ39564, FLJ43066, DKFZp451N061

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-phosphoinositide-dependent protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables AMP-activated protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA-dependent protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables Rho-dependent protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables actinin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables actinin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calmodulin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables calmodulin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables eukaryotic translation initiation factor 2alpha kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AS1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AS121 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AT120 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AXS139 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2BS14 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2BS36 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3S10 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3S28 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3S57 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T11 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T3 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T45 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T6 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H4S1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables muscle alpha-actinin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase regulator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ribosomal protein S6 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables structural constituent of muscle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables structural constituent of muscle TAS
    Traceable Author Statement
    more info
    PubMed 
    enables structural molecule activity conferring elasticity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables structural molecule activity conferring elasticity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables telethonin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables telethonin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in cardiac muscle cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac muscle hypertrophy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac muscle tissue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac myofibril assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within detection of muscle stretch IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in detection of muscle stretch TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in mitotic chromosome condensation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in muscle contraction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein secretion IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of protein secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein kinase A signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to calcium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in sarcomere organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sarcomere organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sarcomerogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in skeletal muscle myosin thick filament assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in skeletal muscle thin filament assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in striated muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in I band IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in M band IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in M band IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in condensed nuclear chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in striated muscle thin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    titin
    Names
    connectin
    rhabdomyosarcoma antigen MU-RMS-40.14
    NP_001243779.1
    NP_001254479.2
    NP_003310.4
    NP_596869.4
    NP_596870.2
    NP_597676.3
    NP_597681.4
    XP_016860308.1
    XP_016860309.1
    XP_016860310.1
    XP_016860311.1
    XP_016860312.1
    XP_024308863.1
    XP_024308865.1
    XP_024308866.1
    XP_024308867.1
    XP_024308868.1
    XP_047301616.1
    XP_047301617.1
    XP_047301619.1
    XP_047301621.1
    XP_047301624.1
    XP_054199629.1
    XP_054199630.1
    XP_054199631.1
    XP_054199632.1
    XP_054199633.1
    XP_054199634.1
    XP_054199635.1
    XP_054199636.1
    XP_054199637.1
    XP_054199638.1
    XP_054199639.1
    XP_054199640.1
    XP_054199641.1
    XP_054199642.1
    XP_054199643.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011618.3 RefSeqGene

      Range
      28380..309814
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_391

    mRNA and Protein(s)

    1. NM_001256850.1NP_001243779.1  titin isoform N2BA

      See identical proteins and their annotated locations for NP_001243779.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (N2BA) encodes another major cardiac isoform (N2BA). It includes the N2A and N2B exons, and also the PEVK region. This variant is supported by annotation on DNA accession AJ277892.2 and by accompanying data in PMIDs 10850961 and 11717165.
      Source sequence(s)
      AC009948, AC010680, AC023270, FJ695199
      UniProtKB/Swiss-Prot
      A6NKB1, E7EQE6, E7ET18, K7ENY1, Q10465, Q10466, Q15598, Q2XUS3, Q32Q60, Q4U1Z6, Q4ZG20, Q6NSG0, Q6PDB1, Q6PJP0, Q7KYM2, Q7KYN4, Q7KYN5, Q7LDM3, Q7Z2X3, Q8TCG8, Q8WZ42, Q8WZ51, Q8WZ52, Q8WZ53, Q8WZB3, Q92761, Q92762, Q9UD97, Q9UP84, Q9Y6L9
      UniProtKB/TrEMBL
      C0JYZ2
      Related
      ENSP00000465570.1, ENST00000591111.5
      Conserved Domains (16) summary
      cd00096
      Location:58995968
      Ig; Immunoglobulin domain
      cd05747
      Location:3348533576
      Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
      cd05748
      Location:2172021791
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
      smart00408
      Location:46784744
      IGc2; Immunoglobulin C-2 Type
      smart00060
      Location:1642516509
      FN3; Fibronectin type 3 domain
      smart00220
      Location:3217832432
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00409
      Location:2023220312
      IG; Immunoglobulin
      smart00410
      Location:2820728289
      IG_like; Immunoglobulin like
      cd00063
      Location:2582925921
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:88888977
      I-set; Immunoglobulin I-set domain
      cd14104
      Location:3217732453
      STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
      pfam00047
      Location:68246907
      ig; Immunoglobulin domain
      pfam02818
      Location:1095510981
      PPAK; PPAK motif
      pfam05104
      Location:1012010296
      Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
      pfam13895
      Location:1339813462
      Ig_2; Immunoglobulin domain
      cl11960
      Location:2456924642
      Ig; Immunoglobulin domain
    2. NM_001267550.2NP_001254479.2  titin isoform IC

      Status: REVIEWED

      Description
      Transcript Variant: This variant (IC) represents an inferred complete model that includes all possible supported in-frame coding exons. The exons included in this inferred variant are supported by the original sequence analysis, publication data(PMID:11717165), available cDNA and EST data, and additional sequence analysis of the repetitive exons. This transcript is the longest and represents a 363-exon model encoding a predicted protein (isoform IC) of 35,991 amino acids.
      Source sequence(s)
      AC009948, AC010680, AC023270, FJ695199, KF459616
      Consensus CDS
      CCDS59435.1
      UniProtKB/TrEMBL
      A0A0A0MTS7, C9JQJ2, H7C0U7
      Related
      ENSP00000467141.1, ENST00000589042.5
      Conserved Domains (17) summary
      cd00096
      Location:73407409
      Ig; Immunoglobulin domain
      cd05747
      Location:3512635217
      Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
      cd05748
      Location:2256722640
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
      smart00408
      Location:49955061
      IGc2; Immunoglobulin C-2 Type
      smart00060
      Location:1806618150
      FN3; Fibronectin type 3 domain
      smart00220
      Location:3381934073
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00409
      Location:2187321953
      IG; Immunoglobulin
      smart00410
      Location:2984829930
      IG_like; Immunoglobulin like
      cd00063
      Location:2747027562
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:92059294
      I-set; Immunoglobulin I-set domain
      cd14104
      Location:3381834094
      STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
      pfam00047
      Location:71417224
      ig; Immunoglobulin domain
      pfam02818
      Location:1127211298
      PPAK; PPAK motif
      pfam05104
      Location:1043710613
      Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
      pfam13895
      Location:1503915103
      Ig_2; Immunoglobulin domain
      pfam16031
      Location:1228612406
      TonB_N; TonB N-terminal region
      cl11960
      Location:2621026283
      Ig; Immunoglobulin domain
    3. NM_003319.4NP_003310.4  titin isoform N2-B

      Status: REVIEWED

      Description
      Transcript Variant: This variant (N2-B) encodes the major cardiac muscle isoform (N2-B). It lacks multiple exons in the region encoding PEVK repeats. This results in a shortened PEVK region in isoform N2-B compared to isoform IC. This variant is supported by data in PMIDs 10850961 and 11717165.
      Source sequence(s)
      AC009948, AC010680, AC023270, FJ695199
      Consensus CDS
      CCDS54421.1
      UniProtKB/TrEMBL
      C0JYZ2
      Related
      ENSP00000434586.1, ENST00000460472.6
      Conserved Domains (13) summary
      cd00096
      Location:2405324120
      Ig; Immunoglobulin domain
      cd05747
      Location:2606126152
      Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
      cd05748
      Location:1429614367
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
      smart00408
      Location:910976
      IGc2; Immunoglobulin C-2 Type
      smart00060
      Location:90019085
      FN3; Fibronectin type 3 domain
      smart00220
      Location:2475425008
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00409
      Location:1782317904
      IG; Immunoglobulin
      smart00410
      Location:2078320865
      IG_like; Immunoglobulin like
      cd00063
      Location:1840518497
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:697
      I-set; Immunoglobulin I-set domain
      cd14104
      Location:2475325029
      STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
      pfam13895
      Location:59746038
      Ig_2; Immunoglobulin domain
      cl11960
      Location:1714517218
      Ig; Immunoglobulin domain
    4. NM_133378.4NP_596869.4  titin isoform N2-A

      Status: REVIEWED

      Description
      Transcript Variant: This variant (N2-A) encodes isoform N2-A, which is the predominant titin isoform in skeletal muscle. This variant lacks the N2B region but includes the PEVK region. This variant is supported by data in PMIDs 7569978, 10850961 and 11717165.
      Source sequence(s)
      AC009948, AC010680, AC023270, FJ695199
      Consensus CDS
      CCDS54424.1
      UniProtKB/TrEMBL
      C0JYZ2
      Related
      ENSP00000343764.6, ENST00000342992.11
      Conserved Domains (16) summary
      cd00096
      Location:49725041
      Ig; Immunoglobulin domain
      cd05747
      Location:3255832649
      Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
      cd05748
      Location:1999920072
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
      smart00408
      Location:37513817
      IGc2; Immunoglobulin C-2 Type
      smart00060
      Location:1549815582
      FN3; Fibronectin type 3 domain
      smart00220
      Location:3125131505
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00409
      Location:2728027362
      IG; Immunoglobulin
      smart00410
      Location:1930519385
      IG_like; Immunoglobulin like
      cd00063
      Location:2490224994
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:79618050
      I-set; Immunoglobulin I-set domain
      cd14104
      Location:3125031526
      STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
      pfam00047
      Location:58975980
      ig; Immunoglobulin domain
      pfam02818
      Location:1002810054
      PPAK; PPAK motif
      pfam05104
      Location:91939369
      Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
      pfam13895
      Location:1247112535
      Ig_2; Immunoglobulin domain
      cl11960
      Location:2364223715
      Ig; Immunoglobulin domain
    5. NM_133379.5NP_596870.2  titin isoform novex-3

      See identical proteins and their annotated locations for NP_596870.2

      Status: REVIEWED

      Source sequence(s)
      AC023270, BX537998
      Consensus CDS
      CCDS33337.1
      UniProtKB/Swiss-Prot
      Q8WZ42
      UniProtKB/TrEMBL
      Q7Z3B7
      Related
      ENSP00000354117.4, ENST00000360870.10
      Conserved Domains (6) summary
      cd00096
      Location:35213594
      Ig; Immunoglobulin domain
      smart00408
      Location:9561022
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:31543233
      IG_like; Immunoglobulin like
      pfam07679
      Location:697
      I-set; Immunoglobulin I-set domain
      pfam09042
      Location:468491
      Titin_Z; Titin Z
      cl11960
      Location:2697
      Ig; Immunoglobulin domain
    6. NM_133432.3NP_597676.3  titin isoform novex-1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (novex-1) encodes the minor cardiac muscle isoform (novex-1 or novex-1/N2B), which is nearly identical to the major cardiac isoform N2-B but contains a unique stretch of 125 aa in the I-band region. This variant is supported by data in PMID:11717165.
      Source sequence(s)
      AC009948, AC010680, AC023270, FJ695199
      Consensus CDS
      CCDS54423.1
      UniProtKB/TrEMBL
      C0JYZ2
      Related
      ENSP00000352154.5, ENST00000359218.11
      Conserved Domains (13) summary
      cd00096
      Location:2417824245
      Ig; Immunoglobulin domain
      cd05747
      Location:2618626277
      Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
      cd05748
      Location:1442114492
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
      smart00408
      Location:910976
      IGc2; Immunoglobulin C-2 Type
      smart00060
      Location:91269210
      FN3; Fibronectin type 3 domain
      smart00220
      Location:2487925133
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00409
      Location:1686516945
      IG; Immunoglobulin
      smart00410
      Location:2090820990
      IG_like; Immunoglobulin like
      cd00063
      Location:1853018622
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:697
      I-set; Immunoglobulin I-set domain
      cd14104
      Location:2487825154
      STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
      pfam13895
      Location:60996163
      Ig_2; Immunoglobulin domain
      cl11960
      Location:1727017343
      Ig; Immunoglobulin domain
    7. NM_133437.4NP_597681.4  titin isoform novex-2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (novex-2) encodes the minor cardiac and skeletal muscle isoform (novex-2 or novex-2/N2B), which is nearly identical to the major cardiac isoform N2-B but contains a unique stretch of 192 aa in the I-band region. This variant is supported by data in PMID:11717165.
      Source sequence(s)
      AC009948, AC010680, AC023270, FJ695199, KF459616
      Consensus CDS
      CCDS54422.1
      UniProtKB/TrEMBL
      A0A0A0MRA3, C0JYZ2
      Related
      ENSP00000340554.6, ENST00000342175.12
      Conserved Domains (13) summary
      cd00096
      Location:2424524312
      Ig; Immunoglobulin domain
      cd05747
      Location:2625326344
      Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
      cd05748
      Location:1448814559
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
      smart00408
      Location:910976
      IGc2; Immunoglobulin C-2 Type
      smart00060
      Location:91939277
      FN3; Fibronectin type 3 domain
      smart00220
      Location:2494625200
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00409
      Location:1693217012
      IG; Immunoglobulin
      smart00410
      Location:2097521057
      IG_like; Immunoglobulin like
      cd00063
      Location:1859718689
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:697
      I-set; Immunoglobulin I-set domain
      cd14104
      Location:2494525221
      STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
      pfam13895
      Location:61666230
      Ig_2; Immunoglobulin domain
      cl11960
      Location:1733717410
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      178525989..178807423 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004821.1XP_016860310.1  titin isoform X6

      UniProtKB/TrEMBL
      C0JYZ2
    2. XM_017004820.1XP_016860309.1  titin isoform X5

      UniProtKB/TrEMBL
      C0JYZ2
    3. XM_024453099.1XP_024308867.1  titin isoform X14

      UniProtKB/TrEMBL
      C0JYZ2
      Conserved Domains (11) summary
      cd05747
      Location:2609126182
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of human titin C terminus and similar domains
      smart00060
      Location:90319115
      FN3; Fibronectin type 3 domain
      smart00409
      Location:60046068
      IG; Immunoglobulin
      smart00410
      Location:47534823
      IG_like; Immunoglobulin like
      cd00063
      Location:1843518527
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:697
      I-set; Immunoglobulin I-set domain
      cd14104
      Location:2478325059
      STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
      cd05748
      Location:1353213605
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains
      cl11960
      Location:2150821581
      Ig; Immunoglobulin domain
      cl26511
      Location:413725
      Neuromodulin_N; Gap junction protein N-terminal region
      cl28434
      Location:20792169
      I-set; Immunoglobulin I-set domain
    4. XM_017004823.1XP_016860312.1  titin isoform X13

      UniProtKB/TrEMBL
      C0JYZ2
    5. XM_047445668.1XP_047301624.1  titin isoform X9

      UniProtKB/TrEMBL
      C0JYZ2
    6. XM_024453098.1XP_024308866.1  titin isoform X12

      UniProtKB/TrEMBL
      C0JYZ2
      Conserved Domains (14) summary
      cd05747
      Location:3217032261
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of human titin C terminus and similar domains
      smart00060
      Location:1511015194
      FN3; Fibronectin type 3 domain
      smart00409
      Location:1208312147
      IG; Immunoglobulin
      smart00410
      Location:1092510989
      IG_like; Immunoglobulin like
      cd00063
      Location:2451424606
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:88898978
      I-set; Immunoglobulin I-set domain
      cd14104
      Location:3086231138
      STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
      pfam05104
      Location:1012110297
      Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
      pfam16031
      Location:1021110304
      TonB_N; TonB N-terminal region
      cd05748
      Location:1961119684
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains
      cl11960
      Location:2433624410
      Ig; Immunoglobulin domain
      cl26464
      Location:1021110556
      Atrophin-1; Atrophin-1 family
      cl26511
      Location:413725
      Neuromodulin_N; Gap junction protein N-terminal region
      cl28434
      Location:96739755
      I-set; Immunoglobulin I-set domain
    7. XM_024453097.1XP_024308865.1  titin isoform X11

      UniProtKB/TrEMBL
      C0JYZ2
      Conserved Domains (13) summary
      cd05747
      Location:3219732288
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of human titin C terminus and similar domains
      smart00060
      Location:1513715221
      FN3; Fibronectin type 3 domain
      smart00410
      Location:1211012174
      IG_like; Immunoglobulin like
      cd00063
      Location:2454124633
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:88898978
      I-set; Immunoglobulin I-set domain
      cd14104
      Location:3088931165
      STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
      pfam02818
      Location:1044610472
      PPAK; PPAK motif
      pfam16031
      Location:1021110301
      TonB_N; TonB N-terminal region
      cd05748
      Location:1963819711
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains
      cl11960
      Location:2436324437
      Ig; Immunoglobulin domain
      cl26464
      Location:1020710496
      Atrophin-1; Atrophin-1 family
      cl26511
      Location:996110336
      Neuromodulin_N; Gap junction protein N-terminal region
      cl28434
      Location:96739755
      I-set; Immunoglobulin I-set domain
    8. XM_017004822.1XP_016860311.1  titin isoform X10

      UniProtKB/TrEMBL
      C0JYZ2
    9. XM_047445665.1XP_047301621.1  titin isoform X8

      UniProtKB/TrEMBL
      C0JYZ2
    10. XM_047445663.1XP_047301619.1  titin isoform X7

      UniProtKB/TrEMBL
      C0JYZ2
    11. XM_024453095.1XP_024308863.1  titin isoform X4

      UniProtKB/TrEMBL
      C0JYZ2
      Conserved Domains (15) summary
      cd05747
      Location:3327233363
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of human titin C terminus and similar domains
      smart00060
      Location:1621216296
      FN3; Fibronectin type 3 domain
      smart00409
      Location:1318513249
      IG; Immunoglobulin
      smart00410
      Location:1193412004
      IG_like; Immunoglobulin like
      COG0810
      Location:1021010335
      TonB; Periplasmic protein TonB, links inner and outer membranes [Cell wall/membrane/envelope biogenesis]
      cd00063
      Location:2561625708
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:88898978
      I-set; Immunoglobulin I-set domain
      cd14104
      Location:3196432240
      STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
      pfam02818
      Location:1095610982
      PPAK; PPAK motif
      cd05748
      Location:2071320786
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains
      cl11960
      Location:2868928762
      Ig; Immunoglobulin domain
      cl25526
      Location:1128611376
      TonB_N; TonB N-terminal region
      cl26464
      Location:250375
      Atrophin-1; Atrophin-1 family
      cl26511
      Location:1011410663
      Neuromodulin_N; Gap junction protein N-terminal region
      cl28434
      Location:91779267
      I-set; Immunoglobulin I-set domain
    12. XM_047445660.1XP_047301616.1  titin isoform X2

      UniProtKB/TrEMBL
      C0JYZ2
    13. XM_047445661.1XP_047301617.1  titin isoform X3

      UniProtKB/TrEMBL
      C0JYZ2
    14. XM_017004819.1XP_016860308.1  titin isoform X1

      UniProtKB/TrEMBL
      H7C0U7
    15. XM_024453100.2XP_024308868.1  titin isoform X15

      Conserved Domains (13) summary
      cd05747
      Location:2270922800
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of human titin C terminus and similar domains
      smart00060
      Location:56495733
      FN3; Fibronectin type 3 domain
      smart00409
      Location:26222686
      IG; Immunoglobulin
      smart00410
      Location:13711441
      IG_like; Immunoglobulin like
      cd00063
      Location:1505315145
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:2068420771
      I-set; Immunoglobulin I-set domain
      cd14104
      Location:2140121677
      STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
      pfam02818
      Location:734760
      PPAK; PPAK motif
      cd05748
      Location:1015010223
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains
      cl11960
      Location:1379313866
      Ig; Immunoglobulin domain
      cl25526
      Location:723813
      TonB_N; TonB N-terminal region
      cl26464
      Location:40488
      Atrophin-1; Atrophin-1 family
      cl28434
      Location:18141897
      I-set; Immunoglobulin I-set domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      179008783..179290485 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343659.1XP_054199634.1  titin isoform X6

      UniProtKB/TrEMBL
      C0JYZ2
    2. XM_054343658.1XP_054199633.1  titin isoform X5

      UniProtKB/TrEMBL
      C0JYZ2
    3. XM_054343667.1XP_054199642.1  titin isoform X14

      UniProtKB/TrEMBL
      C0JYZ2
    4. XM_054343666.1XP_054199641.1  titin isoform X13

      UniProtKB/TrEMBL
      C0JYZ2
    5. XM_054343662.1XP_054199637.1  titin isoform X9

      UniProtKB/TrEMBL
      C0JYZ2
    6. XM_054343665.1XP_054199640.1  titin isoform X12

      UniProtKB/TrEMBL
      C0JYZ2
    7. XM_054343664.1XP_054199639.1  titin isoform X11

      UniProtKB/TrEMBL
      C0JYZ2
    8. XM_054343663.1XP_054199638.1  titin isoform X10

      UniProtKB/TrEMBL
      C0JYZ2
    9. XM_054343661.1XP_054199636.1  titin isoform X8

      UniProtKB/TrEMBL
      C0JYZ2
    10. XM_054343660.1XP_054199635.1  titin isoform X7

      UniProtKB/TrEMBL
      C0JYZ2
    11. XM_054343657.1XP_054199632.1  titin isoform X4

      UniProtKB/TrEMBL
      C0JYZ2
    12. XM_054343655.1XP_054199630.1  titin isoform X2

      UniProtKB/TrEMBL
      C0JYZ2
    13. XM_054343656.1XP_054199631.1  titin isoform X3

      UniProtKB/TrEMBL
      C0JYZ2
    14. XM_054343654.1XP_054199629.1  titin isoform X1

      UniProtKB/TrEMBL
      H7C0U7
    15. XM_054343668.1XP_054199643.1  titin isoform X15