OVOL2 - ovo like zinc finger 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 58495

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-H2C2_2: Zinc-finger double domain (134 - 157)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (161 - 185)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (214 - 237)

  • 0
  • 100
  • 200
  • 275 a.a.
Protein Preferred Names Protein Names

transcription factor Ovo-like 2

  • corneal endothelial dystrophy 1 (autosomal dominant)

OVOL2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
OVOL2 Q9BRP0 ZNF526 Homo sapiens Q8TF50 32296183
Intra
OVOL2 Q9BRP0 ZNF526 Homo sapiens Q8TF50 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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
Others OVOL2 NCBI