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

Gene ID: 84226, updated on 4-Feb-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, Apr 2022]
Orthologs
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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_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

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)

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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_032266.5NP_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_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.