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TSGA13 testis specific 13 [ Homo sapiens (human) ]

Gene ID: 114960, updated on 5-Mar-2024

Summary

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Official Symbol
TSGA13provided by HGNC
Official Full Name
testis specific 13provided by HGNC
Primary source
HGNC:HGNC:12369
See related
Ensembl:ENSG00000213265 AllianceGenome:HGNC:12369
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
Biased expression in testis (RPKM 4.0), ovary (RPKM 0.4) and 4 other tissues See more
Orthologs
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Genomic context

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See TSGA13 in Genome Data Viewer
Location:
7q32.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (130668643..130687432, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (131982945..132001718, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (130353483..130372268, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene COPI coat complex subunit gamma 2 Neighboring gene uncharacterized LOC124901746 Neighboring gene MPRA-validated peak6720 silencer Neighboring gene RNA, 5S ribosomal pseudogene 246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26657 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18648 Neighboring gene NANOG hESC enhancer GRCh37_chr7:130361154-130361710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:130418105-130418642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18650 Neighboring gene uncharacterized LOC105375508 Neighboring gene KLF transcription factor 14 Neighboring gene uncharacterized LOC105375509 Neighboring gene armadillo repeat containing X-linked 2 pseudogene

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. Potential association between TSGA13 variants and risk of total colonic aganglionosis in Hirschsprung disease. Jung SM, et al. Gene, 2019 Aug 20. PMID 31181311
  2. Histochemical analysis of testis specific gene 13 in human normal and malignant tissues. Zhao H, et al. Cell Tissue Res, 2015 Dec. PMID 26111495
  3. Imprinting analysis of 10 genes and/or transcripts in a 1.5-Mb MEST-flanking region at human chromosome 7q32. Yamada T, et al. Genomics, 2004 Mar. PMID 14962666
  4. Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. Wolpin BM, et al. Nat Genet, 2014 Sep. PMID 25086665, Free PMC Article
  5. High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy. Hasson SA, et al. Nature, 2013 Dec 12. PMID 24270810, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Findings provide evidence for genetic association of the TSGA13 gene with total colonic aganglionosis, the most severe subtype of Hirschsprung disease.
    Title: Potential association between TSGA13 variants and risk of total colonic aganglionosis in Hirschsprung disease.
  2. the data from the current study strongly suggest the association between TSGA13 and tumor malignancy.
    Title: Histochemical analysis of testis specific gene 13 in human normal and malignant tissues.
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 identifies multiple susceptibility loci for pancreatic cancer.
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)

Genotypes

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 

General protein information

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Preferred Names
testis-specific gene 13 protein
Names
testis-specific A13

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_001304968.2 → NP_001291897.1  testis-specific gene 13 protein

    See identical proteins and their annotated locations for NP_001291897.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC234644, AK093329, BC038415
    Consensus CDS
    CCDS5824.1
    UniProtKB/Swiss-Prot
    B3KSC9, Q96PP4
    Related
    ENSP00000406047.1, ENST00000456951.5
    Conserved Domains (1) summary
    pfam14994
    Location:3 → 273
    TSGA13; Testis-specific gene 13 protein

  2. NM_052933.4 → NP_443165.1  testis-specific gene 13 protein

    See identical proteins and their annotated locations for NP_443165.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC234644, AF431815, AK093329, BC038415
    Consensus CDS
    CCDS5824.1
    UniProtKB/Swiss-Prot
    B3KSC9, Q96PP4
    Related
    ENSP00000348996.3, ENST00000356588.8
    Conserved Domains (1) summary
    pfam14994
    Location:3 → 273
    TSGA13; Testis-specific gene 13 protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    130668643..130687432 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    131982945..132001718 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96PP4.1 GenPept UniProtKB/Swiss-Prot:Q96PP4

Gene LinkOut

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

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