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

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; 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

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_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Transcriptional Repression of Aerobic Glycolysis by OVOL2 in Breast Cancer.
Title: Transcriptional Repression of Aerobic Glycolysis by OVOL2 in Breast Cancer.
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.
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.
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.
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.
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.
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.
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.
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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S275 (e-PCR)
- UniSTS:147992

SHGC-81846 (e-PCR)
- UniSTS:103974

Z94514 (e-PCR)
- UniSTS:14228

G59571 (e-PCR)
- UniSTS:136875

RH48332 (e-PCR)
- UniSTS:58801

SHGC-154610 (e-PCR)
- UniSTS:183518

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

NG_046859.1 RefSeqGene

Range

6273..40026

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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