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    MTUS2 microtubule associated scaffold protein 2 [ Homo sapiens (human) ]

    Gene ID: 23281, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MTUS2provided by HGNC
    Official Full Name
    microtubule associated scaffold protein 2provided by HGNC
    Primary source
    HGNC:HGNC:20595
    See related
    Ensembl:ENSG00000132938 MIM:619358; AllianceGenome:HGNC:20595
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ICIS; CAZIP; TIP150; KIAA0774
    Summary
    Enables microtubule binding activity and protein homodimerization activity. Located in centrosome; cytoplasmic microtubule; and intercellular bridge. Part of nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in heart (RPKM 7.4), ovary (RPKM 1.3) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTUS2 in Genome Data Viewer
    Location:
    13q12.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (28819963..29505947)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (28043215..28728869)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (29394100..30080084)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5218 Neighboring gene Sharpr-MPRA regulatory region 8918 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:29327481-29328226 Neighboring gene cytochrome P450 family 51 subfamily A member 1 pseudogene 2 Neighboring gene POM121 transmembrane nucleoporin like 13, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5219 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:29394350-29394850 Neighboring gene uncharacterized LOC124903144 Neighboring gene Sharpr-MPRA regulatory region 9111 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:29785419-29785918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:29797027-29797526 Neighboring gene MTUS2 antisense RNA 2 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 69 Neighboring gene Sharpr-MPRA regulatory region 1517 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:29997136-29997688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5221 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:30058113-30058632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:30058633-30059150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7519 Neighboring gene MTUS2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:30098107-30098797 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:30141828-30142333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7520 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:30154280-30154785 Neighboring gene solute carrier family 7 member 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:30163464-30164460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:30166621-30167122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:30167123-30167622 Neighboring gene Sharpr-MPRA regulatory region 7938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5222 Neighboring gene uncharacterized LOC102723345

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Whole genome-wide sequence analysis of long-lived families (Long-Life Family Study) identifies MTUS2 gene associated with late-onset Alzheimer's disease. Xicota L, et al. Alzheimers Dement, 2024 Apr. PMID 38380866, Free PMC Article
    2. The Microtubule Plus End Tracking Protein TIP150 Interacts with Cortactin to Steer Directional Cell Migration. Adams G Jr, et al. J Biol Chem, 2016 Sep 23. PMID 27451391, Free PMC Article
    3. CAZIP, a novel protein expressed in the developing heart and nervous system. Du Puy L, et al. Dev Dyn, 2009 Nov. PMID 19806667
    4. Aurora A orchestrates entosis by regulating a dynamic MCAK-TIP150 interaction. Xia P, et al. J Mol Cell Biol, 2014 Jun. PMID 24847103, Free PMC Article
    5. Regulation of a dynamic interaction between two microtubule-binding proteins, EB1 and TIP150, by the mitotic p300/CBP-associated factor (PCAF) orchestrates kinetochore microtubule plasticity and chromosome stability during mitosis. Ward T, et al. J Biol Chem, 2013 May 31. PMID 23595990, Free PMC Article

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Whole genome-wide sequence analysis of long-lived families (Long-Life Family Study) identifies MTUS2 gene associated with late-onset Alzheimer's disease.
      Title: Whole genome-wide sequence analysis of long-lived families (Long-Life Family Study) identifies MTUS2 gene associated with late-onset Alzheimer's disease.
    2. a dynamic TIP150-cortactin interaction orchestrates directional cell migration via coupling dynamic microtubule plus ends to the cortical cytoskeleton.
      Title: The Microtubule Plus End Tracking Protein TIP150 Interacts with Cortactin to Steer Directional Cell Migration.
    3. A dynamic interaction of MCAK-TIP150 orchestrated by Aurora A-mediated phosphorylation governs entosis via regulating microtubule plus-end dynamics and cell rigidity.
      Title: Aurora A orchestrates entosis by regulating a dynamic MCAK-TIP150 interaction.
    4. TIP150-EB1 interaction governs kinetochore microtubule plus-end plasticity and establish that the temporal control of the TIP150-EB1 interaction by PCAF acetylation ensures chromosome stability in mitosis.
      Title: Regulation of a dynamic interaction between two microtubule-binding proteins, EB1 and TIP150, by the mitotic p300/CBP-associated factor (PCAF) orchestrates kinetochore microtubule plasticity and chromosome stability during mitosis.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    6. These results suggest a role for CAZIP in development and function of the heart and nervous system in vertebrates.
      Title: CAZIP, a novel protein expressed in the developing heart and nervous system.
    7. TIP150 facilitates the EB1-dependent loading of MCAK onto MT plus ends and orchestrates the dynamics at the plus end of MTs.
      Title: TIP150 interacts with and targets MCAK at the microtubule plus ends.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study of caffeine-related sleep disturbance: confirmation of a role for a common variant in the adenosine receptor.
    EBI GWAS Catalog
    Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0774

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule binding IDA
    Inferred from Direct Assay
    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 
    Component Evidence Code Pubs
    colocalizes_with centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    colocalizes_with cytoplasmic microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
    		  
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    microtubule-associated tumor suppressor candidate 2
    Names
    +TIP of 150 kDa
    cardiac zipper protein
    microtubule associated tumor suppressor candidate 2
    microtubule plus-end tracking protein TIP150
    tracking protein of 150 kDa

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001033602.4 → NP_001028774.3  microtubule-associated tumor suppressor candidate 2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AL160255, AL359741, AL596092, AL596114, AL607144
      Consensus CDS
      CCDS45022.2
      UniProtKB/Swiss-Prot
      A7E292, B4DF81, O94872, Q08E97, Q5JQR3, Q5JR59, Q8N5E2
      Related
      ENSP00000483729.2, ENST00000612955.6
      Conserved Domains (3) summary
      PHA03247
      Location:640 → 993
      PHA03247; large tegument protein UL36; Provisional
      COG0419
      Location:1066 → 1329
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      pfam13851
      Location:1000 → 1117
      GAS; Growth-arrest specific micro-tubule binding

    2. NM_001366650.1 → NP_001353579.1  microtubule-associated tumor suppressor candidate 2 isoform c

      Status: VALIDATED

      Source sequence(s)
      AL160255, AL359741, AL596092, AL596114, AL607144
      Conserved Domains (3) summary
      cl25496
      Location:524 → 931
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      cl25549
      Location:986 → 1117
      ARGLU; Arginine and glutamate-rich 1
      cl25732
      Location:1065 → 1328
      SMC_N; RecF/RecN/SMC N terminal domain

    3. NM_001366651.1 → NP_001353580.1  microtubule-associated tumor suppressor candidate 2 isoform d

      Status: VALIDATED

      Source sequence(s)
      AL160255, AL359741, AL596092, AL596114, AL607144
      Conserved Domains (2) summary
      cl25732
      Location:1000 → 1263
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26464
      Location:394 → 945
      Atrophin-1; Atrophin-1 family

    4. NM_001384605.1 → NP_001371534.1  microtubule-associated tumor suppressor candidate 2 isoform a

      Status: VALIDATED

      Source sequence(s)
      AL160255, AL359741, AL596092, AL596114, AL607144
      Consensus CDS
      CCDS45022.2
      UniProtKB/Swiss-Prot
      A7E292, B4DF81, O94872, Q08E97, Q5JQR3, Q5JR59, Q8N5E2
      Conserved Domains (3) summary
      PHA03247
      Location:640 → 993
      PHA03247; large tegument protein UL36; Provisional
      COG0419
      Location:1066 → 1329
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      pfam13851
      Location:1000 → 1117
      GAS; Growth-arrest specific micro-tubule binding

    5. NM_001384606.1 → NP_001371535.1  microtubule-associated tumor suppressor candidate 2 isoform a

      Status: VALIDATED

      Source sequence(s)
      AL160255, AL359741, AL596092, AL596114, AL607144
      Consensus CDS
      CCDS45022.2
      UniProtKB/Swiss-Prot
      A7E292, B4DF81, O94872, Q08E97, Q5JQR3, Q5JR59, Q8N5E2
      Conserved Domains (3) summary
      PHA03247
      Location:640 → 993
      PHA03247; large tegument protein UL36; Provisional
      COG0419
      Location:1066 → 1329
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      pfam13851
      Location:1000 → 1117
      GAS; Growth-arrest specific micro-tubule binding

    6. NM_015233.6 → NP_056048.1  microtubule-associated tumor suppressor candidate 2 isoform b

      See identical proteins and their annotated locations for NP_056048.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences in the presence and absence of exons at its 5' end, compared to variant 1. These differences produce a unique 5' UTR and cause translation initiation at a unique start codon, compared to variant 1. The encoded protein (isoform b) is shorter than isoform a.
      Source sequence(s)
      AL596114, BC032481, BC129985, BU788127
      Consensus CDS
      CCDS41874.1
      UniProtKB/Swiss-Prot
      Q5JR59
      Related
      ENSP00000370186.2, ENST00000380808.6
      Conserved Domains (1) summary
      TIGR02168
      Location:25 → 298
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      28819963..29505947
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430227.1 → XP_047286183.1  microtubule-associated tumor suppressor candidate 2 isoform X1

    2. XM_011535019.4 → XP_011533321.1  microtubule-associated tumor suppressor candidate 2 isoform X1

      Conserved Domains (4) summary
      pfam15665
      Location:1147 → 1364
      FAM184; Family with sequence similarity 184, A and B
      cd16269
      Location:1153 → 1164
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:1077 → 1181
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23720
      Location:1244 → 1364
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    3. XM_047430228.1 → XP_047286184.1  microtubule-associated tumor suppressor candidate 2 isoform X1

    4. XM_047430229.1 → XP_047286185.1  microtubule-associated tumor suppressor candidate 2 isoform X2

    5. XM_017020500.3 → XP_016875989.1  microtubule-associated tumor suppressor candidate 2 isoform X3

    6. XM_017020501.3 → XP_016875990.1  microtubule-associated tumor suppressor candidate 2 isoform X4

    7. XM_011535022.2 → XP_011533324.1  microtubule-associated tumor suppressor candidate 2 isoform X5

      See identical proteins and their annotated locations for XP_011533324.1

      Conserved Domains (2) summary
      cl25732
      Location:272 → 535
      SMC_N; RecF/RecN/SMC N terminal domain
      cl27109
      Location:37 → 182
      Herpes_UL49_2; Herpesvirus UL49 tegument protein

    8. XM_024449335.2 → XP_024305103.1  microtubule-associated tumor suppressor candidate 2 isoform X5

      Conserved Domains (2) summary
      cl25732
      Location:272 → 535
      SMC_N; RecF/RecN/SMC N terminal domain
      cl27109
      Location:37 → 182
      Herpes_UL49_2; Herpesvirus UL49 tegument protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      28043215..28728869
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374344.1 → XP_054230319.1  microtubule-associated tumor suppressor candidate 2 isoform X1

    2. XM_054374343.1 → XP_054230318.1  microtubule-associated tumor suppressor candidate 2 isoform X1

    3. XM_054374345.1 → XP_054230320.1  microtubule-associated tumor suppressor candidate 2 isoform X1

    4. XM_054374346.1 → XP_054230321.1  microtubule-associated tumor suppressor candidate 2 isoform X2

    5. XM_054374347.1 → XP_054230322.1  microtubule-associated tumor suppressor candidate 2 isoform X3

    6. XM_054374348.1 → XP_054230323.1  microtubule-associated tumor suppressor candidate 2 isoform X4

    7. XM_054374350.1 → XP_054230325.1  microtubule-associated tumor suppressor candidate 2 isoform X5

    8. XM_054374349.1 → XP_054230324.1  microtubule-associated tumor suppressor candidate 2 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JR59.3 GenPept UniProtKB/Swiss-Prot:Q5JR59

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