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

Gene ID: 58495, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:15804
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
mouse all
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Genomic context

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See OVOL2 in Genome Data Viewer
Location:
20p11.23
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (18024152..18059188, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (18075263..18110299, complement)
RS_2024_09 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 NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17948905-17949659 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:17950167-17951366 Neighboring gene NANOG hESC enhancer GRCh37_chr20:17964055-17965008 Neighboring gene mitochondrial genome maintenance exonuclease 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17579 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:17980569-17981070 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17985803-17986364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17580 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17988051-17988612 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17988613-17989173 Neighboring gene prothymosin alpha pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:18017759-18018259 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:18034137-18034637 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:18036965-18037752 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:18071206-18071706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:18073813-18074384 Neighboring gene RNA, U7 small nuclear 137 pseudogene Neighboring gene ribosomal protein L15 pseudogene 1

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. OVOL2 induces mesenchymal-to-epithelial transition in fibroblasts and enhances cell-state reprogramming towards epithelial lineages. Watanabe K, et al. Sci Rep, 2019 Apr 24. PMID 31019211, Free PMC Article
  2. Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2. Davidson AE, et al. Am J Hum Genet, 2016 Jan 7. PMID 26749309, Free PMC Article
  3. OVOL2 Maintains the Transcriptional Program of Human Corneal Epithelium by Suppressing Epithelial-to-Mesenchymal Transition. Kitazawa K, et al. Cell Rep, 2016 May 10. PMID 27134177
  4. Expression of hOvol2 in the XY body of human spermatocytes. Taniguchi H, et al. Andrologia, 2017 Feb. PMID 27136193
  5. Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1. Chung DD, et al. PLoS One, 2017. PMID 28046031, Free PMC Article

See all (43) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Ovol2 promoter mutations in mice and human illuminate species-specific phenotypic divergence.
    Title: Ovol2 promoter mutations in mice and human illuminate species-specific phenotypic divergence.
  2. Transcriptional Repression of Aerobic Glycolysis by OVOL2 in Breast Cancer.
    Title: Transcriptional Repression of Aerobic Glycolysis by OVOL2 in Breast Cancer.
  3. Altered Epithelial-mesenchymal Plasticity as a Result of Ovol2 Deletion Minimally Impacts the Self-renewal of Adult Mammary Basal Epithelial Cells.
    Title: Altered Epithelial-mesenchymal Plasticity as a Result of Ovol2 Deletion Minimally Impacts the Self-renewal of Adult Mammary Basal Epithelial Cells.
  4. OVOL2 inhibits macrophage M2 polarization by regulating IL-10 transcription, and thus inhibits the tumor metastasis by modulating the tumor microenvironment.
    Title: OVOL2 inhibits macrophage M2 polarization by regulating IL-10 transcription, and thus inhibits the tumor metastasis by modulating the tumor microenvironment.
  5. An NF-kappaB/OVOL2 circuit regulates glucose import and cell survival in non-small cell lung cancer.
    Title: An NF-κB/OVOL2 circuit regulates glucose import and cell survival in non-small cell lung cancer.
  6. OVOL2 impairs RHO GTPase signaling to restrain mitosis and aggressiveness of Anaplastic Thyroid Cancer.
    Title: OVOL2 impairs RHO GTPase signaling to restrain mitosis and aggressiveness of Anaplastic Thyroid Cancer.
  7. Dysregulation of the Pdx1/Ovol2/Zeb2 axis in dedifferentiated beta-cells triggers the induction of genes associated with epithelial-mesenchymal transition in diabetes.
    Title: Dysregulation of the Pdx1/Ovol2/Zeb2 axis in dedifferentiated β-cells triggers the induction of genes associated with epithelial-mesenchymal transition in diabetes.
  8. c.-61G>A in OVOL2 is a Pathogenic 5' Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1.
    Title: c.-61G>A in OVOL2 is a Pathogenic 5' Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1.
  9. OVOL2 attenuates the expression of MAP3K8 to suppress epithelial mesenchymal transition in colorectal cancer.
    Title: OVOL2 attenuates the expression of MAP3K8 to suppress epithelial mesenchymal transition in colorectal cancer.
  10. OVOL2 induces mesenchymal-to-epithelial transition in fibroblasts and enhances cell-state reprogramming towards epithelial lineages.
    Title: OVOL2 induces mesenchymal-to-epithelial transition in fibroblasts and enhances cell-state reprogramming towards epithelial lineages.
Submit: New GeneRIF Correction See all GeneRIFs (27)

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

Associated conditions

Description Tests
Posterior polymorphous corneal dystrophy 1
MedGen: C1852555 OMIM: 122000 GeneReviews: Not available
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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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Markers

Potential readthrough

Included gene: SNX5

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription repressor activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables chromatin binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables transcription cis-regulatory region binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in angiogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in cell population proliferation IEA
Inferred from Electronic Annotation
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
  
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 Notch signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of SMAD protein signal transduction ISS
Inferred from Sequence or Structural Similarity
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 keratinocyte differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 negative regulation of transcription by competitive promoter binding IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of transforming growth factor beta receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
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 cell cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of keratinocyte proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of keratinocyte proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IC
Inferred by Curator
more info
 PubMed 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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

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.

Genomic

  1. NG_046859.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001303461.1 → NP_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:39 → 105
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:17 → 37
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:29 → 54
    zf-H2C2_2; Zinc-finger double domain

  2. NM_001303462.1 → NP_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:39 → 105
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:17 → 37
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:29 → 54
    zf-H2C2_2; Zinc-finger double domain

  3. NM_021220.4 → NP_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
    Q5T8B4, Q9BRP0, Q9BX22, Q9HA54, Q9Y4M0
    Related
    ENSP00000278780.5, ENST00000278780.7
    Conserved Domains (2) summary
    sd00017
    Location:121 → 141
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:161 → 186
    zf-H2C2_2; Zinc-finger double domain

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_000020.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    18075263..18110299 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BRP0.1 GenPept UniProtKB/Swiss-Prot:Q9BRP0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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