Gene Gene information from NCBI Gene database.
Entrez ID 58495
Gene name Ovo like zinc finger 2
Gene symbol OVOL2
Synonyms (NCBI Gene)
CHEDCHED1CHED2EUROIMAGE566589PPCD1ZNF339
Chromosome 20
Chromosome location 20p11.23
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 intr
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs869320627 ->GGTTCCGGCGGCCGGGGCTGCC Pathogenic Intron variant, upstream transcript variant, genic upstream transcript variant
rs869320628 A>G Pathogenic Intron variant, upstream transcript variant, genic upstream transcript variant
rs869320629 A>G Pathogenic Intron variant, upstream transcript variant, genic upstream transcript variant
rs869320630 A>C Pathogenic Intron variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
97
miRTarBase ID miRNA Experiments Reference
MIRT1208409 hsa-miR-1197 CLIP-seq
MIRT1208410 hsa-miR-1237 CLIP-seq
MIRT1208411 hsa-miR-1248 CLIP-seq
MIRT1208412 hsa-miR-1275 CLIP-seq
MIRT1208413 hsa-miR-188-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
60
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000976 Function Transcription cis-regulatory region binding IDA 19700410
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0001227 Function DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616441 15804 ENSG00000125850
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BRP0
Protein name Transcription factor Ovo-like 2 (hOvo2) (Zinc finger protein 339)
Protein function Zinc-finger transcription repressor factor (PubMed:19700410). Plays a critical role in maintaining the identity of epithelial lineages by suppressing epithelial-to mesenchymal transition (EMT) mainly through the repression of ZEB1, an EMT induce
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13894 zf-C2H2_4 147 170 Domain
PF00096 zf-C2H2 175 198 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 214 237 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in testis, ovary, heart and skeletal muscle (PubMed:12213202). Expressed in the cornea, but absent from the corneal endothelium (PubMed:26749309). {ECO:0000269|PubMed:12213202, ECO:0000269|PubMed:26749309}.
Sequence
MPKVFLVKRRSLGVSVRSWDELPDEKRADTYIPVGLGRLLHDPPEDCRSDGGSSSGSGSS
SAGEPGGAESSSSPHAPESETPEPGDAEGPDGHLATKQRPVARSKIKFTTGTCSDSVVHS
CDLCGKGFRLQRMLNRHLKCHNQVKRHLCTFCGKGFNDTFDLKRHVRTHTGIRPYKCNVC
NKAFTQRCSLESHLKKIH
GVQQQYAYKQRRDKLYVCEDCGYTGPTQEDLYLHVNSAHPGS
SFLKKTSKKLAALLQGKLTSAHQENTSLSEEEERK
Sequence length 275
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Posterior polymorphous corneal dystrophy 1 Pathogenic rs869320627, rs869320628, rs869320629, rs869320630 RCV000210432
RCV000210419
RCV000210427
RCV000210412
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY TYPE 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY TYPE I GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27884772
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 29721073
★☆☆☆☆
Found in Text Mining only
Anterior synechiae Synechiae HPO_DG
★☆☆☆☆
Found in Text Mining only
Bowen's Disease Pubtator 28339425 Stimulate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28455959
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 38066300 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 37138231 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 26619963
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 36149163 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 28339425 Associate
★☆☆☆☆
Found in Text Mining only