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

Gene ID: 84226, updated on 16-Mar-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, Apr 2022]
Orthologs
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Genomic context

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Location:
2p23.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27537386..27582722)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27579747..27625808)
105.20220307 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 (15) 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_2023_10

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.

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