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    SPATA8 spermatogenesis associated 8 [ Homo sapiens (human) ]

    Gene ID: 145946, updated on 22-Oct-2024

    Summary

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    Official Symbol
    SPATA8provided by HGNC
    Official Full Name
    spermatogenesis associated 8provided by HGNC
    Primary source
    HGNC:HGNC:28676
    See related
    Ensembl:ENSG00000185594 MIM:613948; AllianceGenome:HGNC:28676
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SRG8
    Expression
    Restricted expression toward testis (RPKM 123.5) See more
    Orthologs
    all
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    Genomic context

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    See SPATA8 in Genome Data Viewer
    Location:
    15q26.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (96783435..96785615)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (94548068..94550248)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (97326665..97328845)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 149, member B2 Neighboring gene SPATA8 antisense RNA 1 (head to head) Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:97339270-97340469 Neighboring gene RN7SK pseudogene 181 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:97420533-97421163 Neighboring gene uncharacterized LOC105371004

    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 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. Molecular cloning and characterization of a novel human testis-specific gene by use of digital differential display. Nie D, et al. J Genet, 2006 Apr. PMID 16809841
    2. Association Study of a Proliferation-inducing Ligand, Spermatogenesis Associated 8, Platelet-derived Growth Factor Receptor-alpha, and POLB Polymorphisms with Systemic Lupus Erythematosus in Chinese Han Population. Li P, et al. Chin Med J (Engl), 2016 Sep 5. PMID 27569236, Free PMC Article
    3. The contribution of common genetic variation to nicotine and cotinine glucuronidation in multiple ethnic/racial populations. Patel YM, et al. Cancer Epidemiol Biomarkers Prev, 2015 Jan. PMID 25293881, Free PMC Article
    4. GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. Armstrong DL, et al. Genes Immun, 2014 Sep. PMID 24871463, Free PMC Article
    5. Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. Anney RJ, et al. Am J Med Genet B Neuropsychiatr Genet, 2008 Dec 5. PMID 18951430

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data did not detect any significant association with SNPs of APRIL, SPATA8, PDGFRA, and POLB with Systemic Lupus Erythematosus in Chinese Han Population.
      Title: Association Study of a Proliferation-inducing Ligand, Spermatogenesis Associated 8, Platelet-derived Growth Factor Receptor-alpha, and POLB Polymorphisms with Systemic Lupus Erythematosus 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
    Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
    EBI GWAS Catalog
    GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations.
    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

    Other Names

    • spermatogenesis-associated protein 8
    • spermatogenesis-related gene 8
    • spermatogenesis-related protein 8
    • testicular secretory protein Li 52

    Clone Names

    • MGC44294, MGC102678

    Gene Ontology Provided by GOA

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

    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.

    RNA

    1. NR_158220.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AY489187, BC033979, DB456215
      Related
      ENST00000649986.2

    2. NR_158221.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      BC033979, DB456215, HY047940

    3. NR_158222.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AY489187, BC033979, HY034703

    4. NR_158223.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AY489187, BC033979, DB456215, HY024478
      Related
      ENST00000558553.3

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      96783435..96785615
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      94548068..94550248
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_173499.4: Suppressed sequence

      Description
      NM_173499.4: This RefSeq was removed because it is now thought that this gene does not encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6RVD6.1 GenPept UniProtKB/Swiss-Prot:Q6RVD6

    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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