• Gene id: 58495

Gene Summary

• Gene Symbol: OVOL2   Gene   UCSC   Ensembl
• Aliases: CHED, CHED1, CHED2, EUROIMAGE566589, PPCD1, ZNF339
• Gene name: ovo like zinc finger 2
• Alternate names: transcription factor Ovo-like 2, corneal endothelial dystrophy 1 (autosomal dominant), zinc finger protein 339,
• Gene location: 20p11.23 (18059187: 18024151)     Exons: 5     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 616441

Protein Summary

• Protein general information: Q9BRP0  
  • Name: Transcription factor Ovo like 2 (hOvo2) (Zinc finger protein 339)
  • Length: 275  
  • Mass: 30438
  • Tissue specificity: Expressed in testis, ovary, heart and skeletal muscle (PubMed
• Sequence:

  MPKVFLVKRRSLGVSVRSWDELPDEKRADTYIPVGLGRLLHDPPEDCRSDGGSSSGSGSSSAGEPGGAESSSSPH
  APESETPEPGDAEGPDGHLATKQRPVARSKIKFTTGTCSDSVVHSCDLCGKGFRLQRMLNRHLKCHNQVKRHLCT
  FCGKGFNDTFDLKRHVRTHTGIRPYKCNVCNKAFTQRCSLESHLKKIHGVQQQYAYKQRRDKLYVCEDCGYTGPT
  QEDLYLHVNSAHPGSSFLKKTSKKLAALLQGKLTSAHQENTSLSEEEERK

• Structural information:
  • Interpro: IPR027756  IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • STRING: ENSP00000278780
• Other Databases: GeneCards:  OVOL2  Malacards:  OVOL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS	molecular function
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0010719	negative regulation of epithelial to mesenchymal transition	TAS	biological process
GO:0060390	regulation of SMAD protein signal transduction	ISS	biological process
GO:0071560	cellular response to transforming growth factor beta stimulus	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IBA	biological process
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0009913	epidermal cell differentiation	IBA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0010719	negative regulation of epithelial to mesenchymal transition	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0071560	cellular response to transforming growth factor beta stimulus	IEA	biological process
GO:0060716	labyrinthine layer blood vessel development	IEA	biological process
GO:0060390	regulation of SMAD protein signal transduction	IEA	biological process
GO:0060214	endocardium formation	IEA	biological process
GO:0045618	positive regulation of keratinocyte differentiation	IEA	biological process
GO:0010719	negative regulation of epithelial to mesenchymal transition	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0009913	epidermal cell differentiation	IEA	biological process
GO:0008544	epidermis development	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0001947	heart looping	IEA	biological process
GO:0001842	neural fold formation	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:2000647	negative regulation of stem cell proliferation	IEA	biological process
GO:0060347	heart trabecula formation	IEA	biological process
GO:0048557	embryonic digestive tract morphogenesis	IEA	biological process
GO:0010837	regulation of keratinocyte proliferation	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0001755	neural crest cell migration	IEA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process

Diseases

Associated diseases	References
Posterior polymorphous corneal dystrophy	KEGG:H00961
Posterior polymorphous corneal dystrophy	KEGG:H00961
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq