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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
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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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