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    TTC7B tetratricopeptide repeat domain 7B [ Homo sapiens (human) ]

    Gene ID: 145567, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TTC7Bprovided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 7Bprovided by HGNC
    Primary source
    HGNC:HGNC:19858
    See related
    Ensembl:ENSG00000165914 MIM:620060; AllianceGenome:HGNC:19858
    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
    TTC7L1; c14_5685
    Summary
    Involved in phosphatidylinositol phosphate biosynthetic process and protein localization to plasma membrane. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 16.7), fat (RPKM 9.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TTC7B in Genome Data Viewer
    Location:
    14q32.11
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (90524564..90816430, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (84749718..85042042, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (90990908..91282774, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903359 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:90975958-90976791 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90978459-90979291 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90979510-90980022 Neighboring gene Sharpr-MPRA regulatory region 509 Neighboring gene uncharacterized LOC105370619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90984266-90985000 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90985001-90985735 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90989062-90989923 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90999515-91000015 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91000050-91000880 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91005194-91005707 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91005708-91006220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91012381-91012922 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:91020548-91020710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91035910-91036410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91036411-91036911 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:91037691-91038890 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:91040724-91041597 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91081381-91081902 Neighboring gene Sharpr-MPRA regulatory region 13818 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91091763-91092395 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91105894-91106408 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:91108217-91108821 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:91108822-91109426 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:91112734-91113933 Neighboring gene TTC7B antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91148618-91149118 Neighboring gene uncharacterized LOC105370622 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:91187652-91188851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6012 Neighboring gene uncharacterized LOC124903360 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:91260136-91260298 Neighboring gene ribosomal protein S18 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6013 Neighboring gene MPRA-validated peak2229 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6014 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:91311907-91312408 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:91312409-91312908 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:91315826-91316592 Neighboring gene long intergenic non-protein coding RNA 2321 Neighboring gene ribosomal protein S6 kinase A5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8889 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6015 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6016 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:91526715-91527295 Neighboring gene D-glutamate cyclase

    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. TTC7B emerges as a novel risk factor for ischemic stroke through the convergence of several genome-wide approaches. Krug T, et al. J Cereb Blood Flow Metab, 2012 Jun. PMID 22453632, Free PMC Article
    2. TTC7B is a new prognostic biomarker in head and neck squamous cell carcinoma linked to immune infiltration and ferroptosis. He R, et al. Cancer Med, 2023 Dec. PMID 37990988, Free PMC Article
    3. 14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients. Eno CC, et al. Am J Med Genet A, 2021 May. PMID 33634591
    4. Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response. Kuparinen T, et al. Genes Immun, 2012 Feb. PMID 21993531
    5. The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane. Baskin JM, et al. Nat Cell Biol, 2016 Jan. PMID 26571211, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TTC7B is a new prognostic biomarker in head and neck squamous cell carcinoma linked to immune infiltration and ferroptosis.
      Title: TTC7B is a new prognostic biomarker in head and neck squamous cell carcinoma linked to immune infiltration and ferroptosis.
    2. 14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients.
      Title: 14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients.
    3. associated with IS risk in the Spanish and combined data sets. Multiple independent lines of evidence therefore support the role of TTC7B in stroke susceptibility
      Title: TTC7B emerges as a novel risk factor for ischemic stroke through the convergence of several genome-wide approaches.
    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
    Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.
    EBI GWAS Catalog
    Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in phosphatidylinositol phosphate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphatidylinositol phosphate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    tetratricopeptide repeat protein 7B
    Names
    TPR repeat protein 7-like-1
    TPR repeat protein 7B
    tetratricopeptide repeat domain 7 like 1
    tetratricopeptide repeat protein 7-like-1

    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_001010854.2 → NP_001010854.1  tetratricopeptide repeat protein 7B isoform 1

      See identical proteins and their annotated locations for NP_001010854.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL096869, AL122020, BC035865, BG489583, BQ426031, BX248275, CB988671
      Consensus CDS
      CCDS32140.1
      UniProtKB/Swiss-Prot
      Q86TV6, Q86U24, Q86VT3
      Related
      ENSP00000336127.4, ENST00000328459.11
      Conserved Domains (5) summary
      COG0457
      Location:365 → 619
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00008
      Location:431 → 459
      TPR_YbbN; TPR repeat [structural motif]
      sd00006
      Location:730 → 758
      TPR; TPR repeat [structural motif]
      pfam07719
      Location:732 → 763
      TPR_2; Tetratricopeptide repeat
      pfam13414
      Location:732 → 794
      TPR_11; TPR repeat

    2. NM_001320421.2 → NP_001307350.1  tetratricopeptide repeat protein 7B isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction in the 5' end and contains an alternate in-frame exon in the 3' end compared to variant 1. The resulting isoform (2) is shorter at the N-terminus and contains an alternate segment in the C-terminus compared to isoform 1.
      Source sequence(s)
      AL096869, AL122020, AL139193, AL832848, AW081996, BX247966, DR001028
      UniProtKB/Swiss-Prot
      Q86TV6
      Conserved Domains (4) summary
      sd00008
      Location:329 → 357
      TPR_YbbN; TPR repeat [structural motif]
      sd00006
      Location:645 → 673
      TPR; TPR repeat [structural motif]
      pfam07719
      Location:647 → 678
      TPR_2; Tetratricopeptide repeat
      pfam13414
      Location:647 → 709
      TPR_11; TPR repeat

    3. NM_001401365.1 → NP_001388294.1  tetratricopeptide repeat protein 7B isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL096869, AL122020, AL139193

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      90524564..90816430 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      84749718..85042042 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86TV6.3 GenPept UniProtKB/Swiss-Prot:Q86TV6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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