Free for academic non-profit institutions. Other users need a Commercial license

Aliases for OVOL2 Gene

Aliases for OVOL2 Gene

  • Ovo Like Zinc Finger 2 2 3
  • Zinc Finger Protein 339 2 3 4
  • ZNF339 3 4
  • Ovo-Like 2 (Drosophila) 2
  • Ovo-Like Zinc Finger 2 5
  • EUROIMAGE566589 3
  • PPCD1 3
  • HOvo2 4

External Ids for OVOL2 Gene

Previous HGNC Symbols for OVOL2 Gene

  • ZNF339

Previous GeneCards Identifiers for OVOL2 Gene

  • GC20M017947
  • GC20M017937

Summaries for OVOL2 Gene

Entrez Gene Summary for OVOL2 Gene

  • 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]

GeneCards Summary for OVOL2 Gene

OVOL2 (Ovo Like Zinc Finger 2) is a Protein Coding gene. Diseases associated with OVOL2 include Corneal Dystrophy, Posterior Polymorphous, 1 and Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome. GO annotations related to this gene include transcription regulatory region DNA binding and RNA polymerase II transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is OVOL1.

UniProtKB/Swiss-Prot for OVOL2 Gene

  • Zinc-finger transcription repressor factor. Plays a critical role to maintain the identity of epithelial lineages by suppressing epithelial-to mesenchymal transition mainly through the up-regulation of ZEB1 expression. Positively regulates neuronal differentiation (By similarity). Suppresses cell cycling and terminal differentiation of keratinocytes by directly repressing MYC and NOTCH1.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OVOL2 Gene

Genomics for OVOL2 Gene

Regulatory Elements for OVOL2 Gene

Enhancers for OVOL2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around OVOL2 on UCSC Golden Path with GeneCards custom track

Promoters for OVOL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around OVOL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for OVOL2 Gene

Chromosome:
20
Start:
17,956,979 bp from pter
End:
18,059,188 bp from pter
Size:
102,210 bases
Orientation:
Minus strand

Genomic View for OVOL2 Gene

Genes around OVOL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OVOL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OVOL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OVOL2 Gene

Proteins for OVOL2 Gene

  • Protein details for OVOL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BRP0-OVOL2_HUMAN
    Recommended name:
    Transcription factor Ovo-like 2
    Protein Accession:
    Q9BRP0
    Secondary Accessions:
    • Q5T8B4
    • Q9BX22
    • Q9HA54
    • Q9Y4M0

    Protein attributes for OVOL2 Gene

    Size:
    275 amino acids
    Molecular mass:
    30438 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for OVOL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OVOL2 Gene

Proteomics data for OVOL2 Gene at MOPED

Post-translational modifications for OVOL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OVOL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OVOL2 Gene

Domains & Families for OVOL2 Gene

Gene Families for OVOL2 Gene

Protein Domains for OVOL2 Gene

Suggested Antigen Peptide Sequences for OVOL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BRP0

UniProtKB/Swiss-Prot:

OVOL2_HUMAN :
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
  • Contains 4 C2H2-type zinc fingers.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Similarity:
  • Contains 4 C2H2-type zinc fingers.
genes like me logo Genes that share domains with OVOL2: view

Function for OVOL2 Gene

Molecular function for OVOL2 Gene

UniProtKB/Swiss-Prot Function:
Zinc-finger transcription repressor factor. Plays a critical role to maintain the identity of epithelial lineages by suppressing epithelial-to mesenchymal transition mainly through the up-regulation of ZEB1 expression. Positively regulates neuronal differentiation (By similarity). Suppresses cell cycling and terminal differentiation of keratinocytes by directly repressing MYC and NOTCH1.

Gene Ontology (GO) - Molecular Function for OVOL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with OVOL2: view
genes like me logo Genes that share phenotypes with OVOL2: view

Animal Models for OVOL2 Gene

MGI Knock Outs for OVOL2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for OVOL2 Gene

Localization for OVOL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OVOL2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OVOL2 Gene COMPARTMENTS Subcellular localization image for OVOL2 gene
Compartment Confidence
nucleus 5
cytosol 3

No data available for Gene Ontology (GO) - Cellular Components for OVOL2 Gene

Pathways & Interactions for OVOL2 Gene

SuperPathways for OVOL2 Gene

No Data Available

Interacting Proteins for OVOL2 Gene

Gene Ontology (GO) - Biological Process for OVOL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0001755 neural crest cell migration IEA --
GO:0001842 neural fold formation IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007507 heart development IEA --
genes like me logo Genes that share ontologies with OVOL2: view

No data available for Pathways by source and SIGNOR curated interactions for OVOL2 Gene

Drugs & Compounds for OVOL2 Gene

No Compound Related Data Available

Transcripts for OVOL2 Gene

Unigene Clusters for OVOL2 Gene

Ovo-like 2 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for OVOL2 Gene

No ASD Table

Relevant External Links for OVOL2 Gene

GeneLoc Exon Structure for
OVOL2
ECgene alternative splicing isoforms for
OVOL2

Expression for OVOL2 Gene

mRNA expression in normal human tissues for OVOL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for OVOL2 Gene

This gene is overexpressed in Minor Salivary Gland (x5.3), Skin - Sun Exposed (Lower leg) (x4.4), and Stomach (x4.0).

Protein differential expression in normal tissues from HIPED for OVOL2 Gene

This gene is overexpressed in Ovary (43.8) and Liver (25.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for OVOL2 Gene



SOURCE GeneReport for Unigene cluster for OVOL2 Gene Hs.661013

mRNA Expression by UniProt/SwissProt for OVOL2 Gene

Q9BRP0-OVOL2_HUMAN
Tissue specificity: Expressed in testis, ovary, heart and skeletal muscle.
genes like me logo Genes that share expression patterns with OVOL2: view

Protein tissue co-expression partners for OVOL2 Gene

Primer Products

Orthologs for OVOL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for OVOL2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia OVOL2 35
  • 89.17 (n)
  • 89.78 (a)
OVOL2 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OVOL2 35
  • 90.35 (n)
  • 90.48 (a)
OVOL2 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ovol2 35
  • 85.04 (n)
  • 87.23 (a)
Ovol2 16
Ovol2 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia OVOL2 35
  • 98.79 (n)
  • 98.91 (a)
OVOL2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ovol2 35
  • 85.48 (n)
  • 86.31 (a)
oppossum
(Monodelphis domestica)
Mammalia OVOL2 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OVOL2 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves OVOL2 35
  • 72.61 (n)
  • 72.09 (a)
OVOL2 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OVOL2 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ovol2 35
  • 66.05 (n)
  • 67.16 (a)
Str.4531 35
zebrafish
(Danio rerio)
Actinopterygii si:dkey-17e16.13 35
  • 54.71 (n)
  • 50.6 (a)
zgc:173486 36
  • 15 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta ovo 36
  • 8 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lin-48 36
  • 36 (a)
OneToMany
Species with no ortholog for OVOL2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for OVOL2 Gene

ENSEMBL:
Gene Tree for OVOL2 (if available)
TreeFam:
Gene Tree for OVOL2 (if available)

Paralogs for OVOL2 Gene

Paralogs for OVOL2 Gene

(6) SIMAP similar genes for OVOL2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with OVOL2: view

Variants for OVOL2 Gene

Sequence variations from dbSNP and Humsavar for OVOL2 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1976 -- 18,024,469(+) AACGG(C/T)AACTG utr-variant-3-prime
rs1122811 -- 18,044,710(-) CCTGG(A/G)CCTCT intron-variant
rs1122812 -- 18,044,568(-) TATCA(A/G)TGTTA intron-variant
rs1123497 -- 18,044,514(+) TCAGC(C/T)TCCTC intron-variant
rs1205252 -- 18,031,559(+) GTAAC(A/G)GAGCG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OVOL2 Gene

Variant ID Type Subtype PubMed ID
nsv458944 CNV Gain 19166990
nsv470543 CNV Gain 18288195
nsv458945 CNV Loss 19166990
nsv833933 CNV Gain 17160897
esv2660105 CNV Deletion 23128226
nsv912809 CNV Gain 21882294

Variation tolerance for OVOL2 Gene

Residual Variation Intolerance Score: 47.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.67; 45.90% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for OVOL2 Gene

Disorders for OVOL2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for OVOL2 Gene - From: OMIM, ClinVar, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
corneal dystrophy, posterior polymorphous, 1
  • posterior polymorphous corneal dystrophy
keratoconus 1
  • ktcn1
craniofacial anomalies and anterior segment dysgenesis syndrome
  • caasds
congenital hereditary endothelial dystrophy type i
  • corneal endothelial dystrophy 1, autosomal dominant
- elite association - COSMIC cancer census association via MalaCards
Search OVOL2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for OVOL2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OVOL2
genes like me logo Genes that share disorders with OVOL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OVOL2 Gene

Publications for OVOL2 Gene

  1. Ovol2 suppresses cell cycling and terminal differentiation of keratinocytes by directly repressing c-Myc and Notch1. (PMID: 19700410) Wells J. … Dai X. (J. Biol. Chem. 2009) 3 4 67
  2. Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2. (PMID: 26749309) Davidson A.E. … Hardcastle A.J. (Am. J. Hum. Genet. 2016) 3
  3. Activation of the OVOL1-OVOL2 Axis in the Hair Bulb and in Pilomatricoma. (PMID: 26873447) Ito T. … Furue M. (Am. J. Pathol. 2016) 3
  4. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. (PMID: 23824909) Chen Y. … Ge F. (Mol. Cell Proteomics 2013) 3
  5. Transcription factors OVOL1 and OVOL2 induce the mesenchymal to epithelial transition in human cancer. (PMID: 24124593) Roca H. … Pienta K.J. (PLoS ONE 2013) 3

Products for OVOL2 Gene

Sources for OVOL2 Gene

Content