OVOL2 - ovo like zinc finger 2 Gene

Homo sapiens

Also known as CHED; CHED1; CHED2; PPCD1; ZNF339; EUROIMAGE566589

Gene ID: 58495 | Gene type: protein coding

About OVOL2

Cytogenetic location: 20p11.23 Genomic coordinates (GRCh38): 20:18,024,152-18,059,188 (from NCBI)

This gene has 5 transcripts (splice variants), 202 orthologues, 29 paralogues and is associated with 4 phenotypes. Broad expression in stomach (RPKM 6.1), colon (RPKM 3.5) and 15 other tissues.

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]

OVOL2 Products(3)

mRNA	Protein	Name
NM_001303461.1	NP_001290390.1	transcription factor Ovo-like 2 isoform 2
NM_001303462.1	NP_001290391.1	transcription factor Ovo-like 2 isoform 2
NM_021220.4	NP_067043.2	transcription factor Ovo-like 2 isoform 1

OVOL2 Protein Structure

zf-H2C2_2

zf-C2H2

0
100
200
275 a.a.

Protein Preferred Names

Protein Names

transcription factor Ovo-like 2

corneal endothelial dystrophy 1 (autosomal dominant)

Related Diseases

Diseases

Alias

Corneal Dystrophy, Posterior Polymorphous, 1

Posterior Polymorphous Corneal Dystrophy	Ppcd
Maumenee Corneal Dystrophy	Posterior Polymorphous Corneal Dystrophy 1
PPCD1	Corneal Dystrophy, Hereditary Polymorphous Posterior
Corneal Endothelial Dystrophy 1, Autosomal Dominant	Schlichting Dystrophy
Ched1	Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly
Ched1, Formerly	Hereditary Polymorphus Posterior Corneal Dystrophy
Posterior Polymorphous Dystrophy	Hereditary Polymorphous Posterior Corneal Dystrophy
Dystrophy, Corneal, Posterior Polymorphous	Dystrophy, Corneal, Posterior Polymorphous, Type 1
Polymorphous Corneal Dystrophy	Corneal Endothelial Dystrophy 2

Congenital Hereditary Endothelial Dystrophy Type I

Autosomal Dominant Ched	Autosomal Dominant Congenital Hereditary Endothelial Dystrophy
Ched1	Chedi
Congenital Hereditary Endothelial Dystrophy Type 1	Corneal Endothelial Dystrophy 1, Autosomal Dominant

Corneal Endothelial Dystrophy

Congenital Hereditary Endothelial Dystrophy Of Cornea	Chandler Syndrome
CHED	Chandler'S Syndrome
Endothelial Corneal Dystrophy	Ched2
Maumenee Corneal Dystrophy	Corneal Dystrophy, Congenital Hereditary Endothelial
Dystrophy Of Corneal Endothelium	Corneal Endothelial Dystrophy 2
Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly	Ched2, Formerly
Corneal Endothelial Dystrophy, Autosomal Recessive	Endothelial Dystrophy
Posterior Membrane Corneal Dystrophy	Corneal Endothelial Dystrophy Type 2
Congenital Hereditary Endothelial Dystrophy Of The Cornea	Congenital Hereditary Endothelial Dystrophy Type Ii
Autosomal Recessive Ched	Autosomal Recessive Congenital Hereditary Endothelial Dystrophy
Chedii	Congenital Hereditary Endothelial Dystrophy Type 2
Infantile Hereditary Endothelial Dystrophy	Congenital Hereditary Endothelial Corneal Dystrophy
Corneal Endothelial Dystrophy 2, Autosomal Recessive	Iridocorneal Endothelial Syndrome
Dystrophy, Corneal, Endothelial	Corneal Endothelial Dystrophy 1, Autosomal Dominant

Corneal Dystrophy

Rare Corneal Disorder

Corneal Dystrophy, Posterior Polymorphous, 3

Posterior Polymorphous Corneal Dystrophy 3	PPCD3
Dystrophy, Corneal, Posterior Polymorphous, Type 3

Corneal Dystrophy, Posterior Polymorphous, 4

PPCD4

Posterior Polymorphous Corneal Dystrophy 4

Cogan-Reese Syndrome

Corneal Edema

Corneal Oedema

Infiltrate Of Cornea

Tyrosinemia, Type Ii

Tyrosinemia Type Ii	Oculocutaneous Tyrosinemia
Richner-Hanhart Syndrome	Tyrosine Aminotransferase Deficiency
Tat Deficiency	Tyrosine Transaminase Deficiency
Keratosis Palmoplantaris With Corneal Dystrophy	TYRSN2
Oregon Type Tyrosinemia	Tyrosinemia Type 2
Tyrosinosis Oculocutaneous Type	Tyrosinosis, Oculocutaneous Type
Richner Hanhart Syndrome	Keratosis Palmoplantaris-Corneal Dystrophy Syndrome
Tyrosinemia Due To Tat Deficiency	Tyrosinemia Due To Tyrosine Aminotransferase Deficiency
Tyrosinemia 2	Tyrosinemia Oregon Type
Tyrosine Transaminase Deficiency Disease

Fuchs' Endothelial Dystrophy

Fuchs Endothelial Corneal Dystrophy	Fuchs Endothelial Dystrophy
Fuchs Dystrophy	Fced
Fuchs' Corneal Dystrophy	Fuchs' Endothelial Corneal Dystrophy
Fuchs Atrophy	Fuchs Corneal Dystrophy
Endoepithelial Corneal Dystrophy	Fecd
Late Hereditary Endothelial Dystrophy	Corneal Dystrophy, Fuchs Endothelial
Dystrophy, Corneal, Fuchs Endothelial	Corneal Dystrophy, Fuchs' Endothelial, 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09884	OVOL2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	OVOL2	MGD	MGI:1338039
Canis familiaris	OVOL2	VGNC	VGNC:44197
Rattus norvegicus	OVOL2	RGD	RGD:1306130
Macaca mulatta	OVOL2	VGNC	VGNC:107849
Bos taurus	OVOL2	VGNC	VGNC:32506
Felis catus	OVOL2	VGNC	VGNC:64006

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