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

    Gene ID: 84226, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Orthologs
    NEW
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    Genomic context

    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

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_032266.5NP_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:48405166
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam08017
      Location:50335379
      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.