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OVCH2 ovochymase 2 [ Homo sapiens (human) ]

Gene ID: 341277, updated on 2-Nov-2024

Summary

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Official Symbol
OVCH2provided by HGNC
Official Full Name
ovochymase 2provided by HGNC
Primary source
HGNC:HGNC:29970
See related
Ensembl:ENSG00000183378 MIM:618962; AllianceGenome:HGNC:29970
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
OVTN
Summary
Enables serine-type endopeptidase activity. Predicted to be involved in fertilization. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in skin (RPKM 2.1), kidney (RPKM 1.0) and 5 other tissues See more
Orthologs
mouse all
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Genomic context

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See OVCH2 in Genome Data Viewer
Location:
11p15.4
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (7678693..7706477, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (7737081..7764863, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (7710668..7728024, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene PPFIA binding protein 2 Neighboring gene uncharacterized LOC105376535 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:7595102-7595926 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:7595927-7596750 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:7599169-7599403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4374 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:7651972-7653171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4375 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:7672104-7673303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3111 Neighboring gene uncharacterized LOC105376533 Neighboring gene cytochrome b5 reductase 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:7712245-7713444 Neighboring gene uncharacterized LOC124902626 Neighboring gene olfactory receptor family 10 subfamily AB member 1 pseudogene

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. NELL2-mediated lumicrine signaling through OVCH2 is required for male fertility. Kiyozumi D, et al. Science, 2020 Jun 5. PMID 32499443, Free PMC Article
  2. NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. Heard-Costa NL, et al. PLoS Genet, 2009 Jun. PMID 19557197, Free PMC Article
  3. Human chromosome 11 DNA sequence and analysis including novel gene identification. Taylor TD, et al. Nature, 2006 Mar 23. PMID 16554811
  4. Human and mouse proteases: a comparative genomic approach. Puente XS, et al. Nat Rev Genet, 2003 Jul. PMID 12838346
  5. BCAR1 promotes proliferation and cell growth in lung adenocarcinoma via upregulation of POLR2A. Mao CG, et al. Thorac Cancer, 2020 Nov. PMID 33001583, Free PMC Article

See all (6) 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
NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium.
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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables serine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in fertilization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
ovochymase-2
Names
oviductin protease
NP_001354892.1
NP_937828.3
XP_047282834.1
XP_054224631.1

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_001367963.1 → NP_001354892.1  ovochymase-2 isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AC104237

  2. NM_198185.7 → NP_937828.3  ovochymase-2 isoform 1 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    ABBA01028682, AC104237
    Consensus CDS
    CCDS73251.1
    UniProtKB/Swiss-Prot
    Q7RTZ1
    UniProtKB/TrEMBL
    A0A087X1V8, A0A087X290
    Related
    ENSP00000484497.2, ENST00000533663.6
    Conserved Domains (3) summary
    smart00020
    Location:51 → 294
    Tryp_SPc; Trypsin-like serine protease
    cd00041
    Location:431 → 542
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00190
    Location:52 → 297
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    7678693..7706477 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426878.1 → XP_047282834.1  ovochymase-2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    7737081..7764863 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368656.1 → XP_054224631.1  ovochymase-2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7RTZ1.2 GenPept UniProtKB/Swiss-Prot:Q7RTZ1

Gene LinkOut

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Chemical Information
Molecular Biology Databases
Research Materials