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    OVOL2 ovo like zinc finger 2 [ Homo sapiens (human) ]

    Gene ID: 58495, updated on 11-Jun-2021

    Summary

    Official Symbol
    OVOL2provided by HGNC
    Official Full Name
    ovo like zinc finger 2provided by HGNC
    Primary source
    HGNC:HGNC:15804
    See related
    Ensembl:ENSG00000125850 MIM:616441
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CHED; CHED1; CHED2; PPCD1; ZNF339; EUROIMAGE566589
    Summary
    This gene encodes a member of the evolutionarily conserved ovo-like protein family. Mammalian members of this family contain a single zinc finger domain composed of a tetrad of C2H2 zinc fingers with variable N- and C-terminal extensions that contain intrinsically disordered domains. Members of this family are involved in epithelial development and differentiation. Knockout of this gene in mouse results in early embryonic lethality with phenotypes that include neurectoderm expansion, impaired vascularization, and heart anomalies. In humans, allelic variants of this gene have been associated with posterior polymorphous corneal dystrophy. [provided by RefSeq, Apr 2016]
    Expression
    Broad expression in stomach (RPKM 6.1), colon (RPKM 3.5) and 15 other tissues See more
    Orthologs
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    Genomic context

    See OVOL2 in Genome Data Viewer
    Location:
    20p11.23
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (18024152..18059188, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (18004796..18039832, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene sorting nexin 5 Neighboring gene mitochondrial genome maintenance exonuclease 1 Neighboring gene prothymosin alpha pseudogene 3 Neighboring gene RNA, U7 small nuclear 137 pseudogene Neighboring gene ribosomal protein L15 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: SNX5

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to transforming growth factor beta stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in dorsal/ventral pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic digestive tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endocardium formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epidermal cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in heart looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart trabecula formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in labyrinthine layer blood vessel development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of epithelial to mesenchymal transition TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neural crest cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neural fold formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of keratinocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of SMAD protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of keratinocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    transcription factor Ovo-like 2
    Names
    corneal endothelial dystrophy 1 (autosomal dominant)
    zinc finger protein 339

    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.

    Genomic

    1. NG_046859.1 RefSeqGene

      Range
      6273..40026
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001303461.1NP_001290390.1  transcription factor Ovo-like 2 isoform 2

      See identical proteins and their annotated locations for NP_001290390.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AI811832, BE791524, BM563561, BX331154, DB460914
      UniProtKB/Swiss-Prot
      Q9BRP0
      Related
      ENST00000483661.5
      Conserved Domains (3) summary
      COG5189
      Location:39105
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:1737
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:2954
      zf-H2C2_2; Zinc-finger double domain
    2. NM_001303462.1NP_001290391.1  transcription factor Ovo-like 2 isoform 2

      See identical proteins and their annotated locations for NP_001290391.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AI811832, BM563561, BX331154
      UniProtKB/Swiss-Prot
      Q9BRP0
      Related
      ENST00000494030.1
      Conserved Domains (3) summary
      COG5189
      Location:39105
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:1737
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:2954
      zf-H2C2_2; Zinc-finger double domain
    3. NM_021220.4NP_067043.2  transcription factor Ovo-like 2 isoform 1

      See identical proteins and their annotated locations for NP_067043.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AI811832, AL160411, BC006148, BX331154
      Consensus CDS
      CCDS13132.1
      UniProtKB/Swiss-Prot
      Q9BRP0
      Related
      ENSP00000278780.5, ENST00000278780.7
      Conserved Domains (2) summary
      sd00017
      Location:121141
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:161186
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

      Range
      18024152..18059188 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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