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

Gene ID: 58495, updated on 20-Mar-2020

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

Genomic context

See OVOL2 in Genome Data Viewer
Location:
20p11.23
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (18024152..18059188, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (18004796..18039834, 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

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

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.

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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