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    TSGA13 testis specific 13 [ Homo sapiens (human) ]

    Gene ID: 114960, updated on 10-Dec-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (130668643..130687432, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (131982945..132001718, complement)
    RS_2024_09 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)

    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_2024_08

    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.

    Chemical Information
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