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    TTC32 tetratricopeptide repeat domain 32 [ Homo sapiens (human) ]

    Gene ID: 130502, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TTC32provided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 32provided by HGNC
    Primary source
    HGNC:HGNC:32954
    See related
    Ensembl:ENSG00000183891 AllianceGenome:HGNC:32954
    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
    Expression
    Ubiquitous expression in bone marrow (RPKM 8.8), prostate (RPKM 5.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TTC32 in Genome Data Viewer
    Location:
    2p24.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (19896631..19901983, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (19930163..19935514, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (20096392..20101744, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene CDGSH iron sulfur domain 1 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20050625-20051377 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:20061978-20062478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:20063272-20063772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15365 Neighboring gene long intergenic non-protein coding RNA 954 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:20100705-20101586 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:20101587-20102467 Neighboring gene WD repeat domain 35 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15371 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:20189663-20190166 Neighboring gene ring finger protein, transmembrane 1 pseudogene 1 Neighboring gene WDR35 divergent transcript Neighboring gene matrilin 3

    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. Association study of genetic variants at TTC32-WDR35 gene cluster with coronary artery disease in Chinese Han population. Xu Y, et al. J Clin Lab Anal, 2021 Feb. PMID 33009702, Free PMC Article
    2. Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease. Lu X, et al. Nat Genet, 2012 Jul 1. PMID 22751097, Free PMC Article
    3. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. Chen Y, et al. Mol Cell Proteomics, 2013 Oct. PMID 23824909, Free PMC Article
    4. Next-generation sequencing to generate interactome datasets. Yu H, et al. Nat Methods, 2011 Jun. PMID 21516116, Free PMC Article
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association study of genetic variants at TTC32-WDR35 gene cluster with coronary artery disease in Chinese Han population.
      Title: Association study of genetic variants at TTC32-WDR35 gene cluster with coronary artery disease in Chinese Han population.
    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 association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
    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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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    tetratricopeptide repeat protein 32
    Names
    TPR repeat protein 32

    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_001008237.3 → NP_001008238.1  tetratricopeptide repeat protein 32

      See identical proteins and their annotated locations for NP_001008238.1

      Status: VALIDATED

      Source sequence(s)
      AI366807, BC057850, BC070381
      Consensus CDS
      CCDS33151.1
      UniProtKB/Swiss-Prot
      Q5I0X7
      Related
      ENSP00000333018.3, ENST00000333610.4
      Conserved Domains (3) summary
      sd00006
      Location:57 → 87
      TPR; TPR repeat [structural motif]
      cl26002
      Location:2 → 143
      TPR_11; TPR repeat
      cl26005
      Location:55 → 123
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

    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
      19896631..19901983 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      19930163..19935514 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5I0X7.1 GenPept UniProtKB/Swiss-Prot:Q5I0X7

    Gene LinkOut

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

    Chemical Information
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