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    SPATA31H1 SPATA31 subfamily H member 1 [ Homo sapiens (human) ]

    Gene ID: 84226, updated on 3-Nov-2024

    Summary

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    Official Symbol
    SPATA31H1provided by HGNC
    Official Full Name
    SPATA31 subfamily H member 1provided by HGNC
    Primary source
    HGNC:HGNC:25275
    See related
    Ensembl:ENSG00000221843 AllianceGenome:HGNC:25275
    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
    Also known as
    C2orf16
    Summary
    Located in extracellular exosome and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    mouse all
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    Genomic context

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    See SPATA31H1 in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27537386..27582722)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27579747..27625808)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27760253..27805589)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene fibronectin type III domain containing 4 Neighboring gene glucokinase regulator Neighboring gene Sharpr-MPRA regulatory region 4379 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:27788766-27789965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15508 Neighboring gene zinc finger protein 512 Neighboring gene Sharpr-MPRA regulatory region 1109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15510 Neighboring gene coiled-coil domain containing 121 Neighboring gene GPN-loop GTPase 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. The human sperm proteome-Toward a panel for male fertility testing. Greither T, et al. Andrology, 2023 Oct. PMID 36896575
    2. A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. Kraja AT, et al. Diabetes, 2011 Apr. PMID 21386085, Free PMC Article
    3. Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. O'Seaghdha CM, et al. Hum Mol Genet, 2010 Nov 1. PMID 20705733, Free PMC Article
    4. Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. Weissglas-Volkov D, et al. J Med Genet, 2013 May. PMID 23505323, Free PMC Article
    5. Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. Wu JH, et al. Circ Cardiovasc Genet, 2013 Apr. PMID 23362303, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
    EBI GWAS Catalog
    Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
    EBI GWAS Catalog
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    EBI GWAS Catalog
    Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
    EBI GWAS Catalog
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    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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    Homology

    Clone Names

    • DKFZp434G118, DKFZp781D2023

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    spermatogenesis-associated protein 31H1
    Names
    P-S-E-R-S-H-H-S repeats containing
    uncharacterized protein C2orf16

    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_032266.5 → NP_115642.4  spermatogenesis-associated protein 31H1

      Status: VALIDATED

      Source sequence(s)
      AC074091, AC074117, AC109829
      Consensus CDS
      CCDS42666.2
      UniProtKB/TrEMBL
      C9JG08
      Related
      ENSP00000403181.2, ENST00000447166.3
      Conserved Domains (2) summary
      PHA03307
      Location:4840 → 5166
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam08017
      Location:5033 → 5379
      Fibrinogen_BP; Fibrinogen binding 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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      27537386..27582722
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      27579747..27625808
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_023682.1: Suppressed sequence

      Description
      NG_023682.1: This RefSeq was removed because the gene (GeneID: 100420668) was discontinued.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q68DN1.3 GenPept UniProtKB/Swiss-Prot:Q68DN1

    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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