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    OVCH2 ovochymase 2 [ Homo sapiens (human) ]

    Gene ID: 341277, updated on 28-Oct-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, Oct 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
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    Research Materials