OVOL2 (ovo like zinc finger 2)

Gene

• Entrez ID: 58495
• Gene name: Ovo like zinc finger 2
• Gene symbol: OVOL2
• Synonyms: CHED, CHED1, CHED2, EUROIMAGE566589, PPCD1, ZNF339
• 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 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

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
MIRT1208414	hsa-miR-2116	CLIP-seq
MIRT1208415	hsa-miR-2861	CLIP-seq
MIRT1208416	hsa-miR-30a	CLIP-seq
MIRT1208417	hsa-miR-30b	CLIP-seq
MIRT1208418	hsa-miR-30c	CLIP-seq
MIRT1208419	hsa-miR-30d	CLIP-seq
MIRT1208420	hsa-miR-30e	CLIP-seq
MIRT1208421	hsa-miR-3127-3p	CLIP-seq
MIRT1208422	hsa-miR-3148	CLIP-seq
MIRT1208423	hsa-miR-3187-3p	CLIP-seq
MIRT1208424	hsa-miR-3189-3p	CLIP-seq
MIRT1208425	hsa-miR-3607-3p	CLIP-seq
MIRT1208426	hsa-miR-362-5p	CLIP-seq
MIRT1208427	hsa-miR-3667-3p	CLIP-seq
MIRT1208428	hsa-miR-3686	CLIP-seq
MIRT1208429	hsa-miR-3909	CLIP-seq
MIRT1208430	hsa-miR-3918	CLIP-seq
MIRT1208431	hsa-miR-3942-3p	CLIP-seq
MIRT1208432	hsa-miR-4435	CLIP-seq
MIRT1208433	hsa-miR-4436a	CLIP-seq
MIRT1208434	hsa-miR-4512	CLIP-seq
MIRT1208435	hsa-miR-4525	CLIP-seq
MIRT1208436	hsa-miR-4529-5p	CLIP-seq
MIRT1208437	hsa-miR-4652-3p	CLIP-seq
MIRT1208438	hsa-miR-4665-5p	CLIP-seq
MIRT1208439	hsa-miR-4668-3p	CLIP-seq
MIRT1208440	hsa-miR-4668-5p	CLIP-seq
MIRT1208441	hsa-miR-4677-5p	CLIP-seq
MIRT1208442	hsa-miR-4700-3p	CLIP-seq
MIRT1208443	hsa-miR-4701-5p	CLIP-seq
MIRT1208444	hsa-miR-4723-5p	CLIP-seq
MIRT1208445	hsa-miR-495	CLIP-seq
MIRT1208446	hsa-miR-500a	CLIP-seq
MIRT1208447	hsa-miR-500b	CLIP-seq
MIRT1208448	hsa-miR-5095	CLIP-seq
MIRT1208449	hsa-miR-548c-3p	CLIP-seq
MIRT1208450	hsa-miR-548s	CLIP-seq
MIRT1208451	hsa-miR-588	CLIP-seq
MIRT1208452	hsa-miR-605	CLIP-seq
MIRT1208453	hsa-miR-625	CLIP-seq
MIRT1208410	hsa-miR-1237	CLIP-seq
MIRT2059874	hsa-miR-124	CLIP-seq
MIRT1208411	hsa-miR-1248	CLIP-seq
MIRT2059875	hsa-miR-1272	CLIP-seq
MIRT1208421	hsa-miR-3127-3p	CLIP-seq
MIRT2059876	hsa-miR-3163	CLIP-seq
MIRT2059877	hsa-miR-3662	CLIP-seq
MIRT1208427	hsa-miR-3667-3p	CLIP-seq
MIRT2059878	hsa-miR-3682-3p	CLIP-seq
MIRT1208429	hsa-miR-3909	CLIP-seq
MIRT2059879	hsa-miR-4310	CLIP-seq
MIRT2059880	hsa-miR-4695-3p	CLIP-seq
MIRT2059881	hsa-miR-498	CLIP-seq
MIRT2059882	hsa-miR-506	CLIP-seq
MIRT2059883	hsa-miR-767-5p	CLIP-seq
MIRT2288213	hsa-miR-1	CLIP-seq
MIRT2288214	hsa-miR-1257	CLIP-seq
MIRT2288215	hsa-miR-206	CLIP-seq
MIRT1208415	hsa-miR-2861	CLIP-seq
MIRT2288216	hsa-miR-337-5p	CLIP-seq
MIRT2288217	hsa-miR-3673	CLIP-seq
MIRT1208430	hsa-miR-3918	CLIP-seq
MIRT2288218	hsa-miR-432	CLIP-seq
MIRT2288219	hsa-miR-4485	CLIP-seq
MIRT1208434	hsa-miR-4512	CLIP-seq
MIRT1208445	hsa-miR-495	CLIP-seq
MIRT1208448	hsa-miR-5095	CLIP-seq
MIRT2288220	hsa-miR-548al	CLIP-seq
MIRT2288221	hsa-miR-570	CLIP-seq
MIRT2288222	hsa-miR-613	CLIP-seq
MIRT2288223	hsa-miR-9	CLIP-seq
MIRT1208410	hsa-miR-1237	CLIP-seq
MIRT1208411	hsa-miR-1248	CLIP-seq
MIRT1208412	hsa-miR-1275	CLIP-seq
MIRT1208421	hsa-miR-3127-3p	CLIP-seq
MIRT2392008	hsa-miR-342-5p	CLIP-seq
MIRT2392009	hsa-miR-3653	CLIP-seq
MIRT1208427	hsa-miR-3667-3p	CLIP-seq
MIRT1208429	hsa-miR-3909	CLIP-seq
MIRT2392010	hsa-miR-4271	CLIP-seq
MIRT2392011	hsa-miR-4447	CLIP-seq
MIRT2392012	hsa-miR-4472	CLIP-seq
MIRT1208435	hsa-miR-4525	CLIP-seq
MIRT2392013	hsa-miR-4651	CLIP-seq
MIRT2392014	hsa-miR-4664-5p	CLIP-seq
MIRT1208438	hsa-miR-4665-5p	CLIP-seq
MIRT2392015	hsa-miR-4676-5p	CLIP-seq
MIRT1208444	hsa-miR-4723-5p	CLIP-seq
MIRT2392016	hsa-miR-4725-3p	CLIP-seq
MIRT2392017	hsa-miR-575	CLIP-seq
MIRT2392018	hsa-miR-608	CLIP-seq
MIRT1208453	hsa-miR-625	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001755	Process	Neural crest cell migration	IEA
GO:0001842	Process	Neural fold formation	IEA
GO:0001947	Process	Heart looping	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0009913	Process	Epidermal cell differentiation	IBA	21873635
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0010629	Process	Negative regulation of gene expression	ISS
GO:0010719	Process	Negative regulation of epithelial to mesenchymal transition	ISS
GO:0010719	Process	Negative regulation of epithelial to mesenchymal transition	TAS	28455959
GO:0010837	Process	Regulation of keratinocyte proliferation	IEA
GO:0045618	Process	Positive regulation of keratinocyte differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048557	Process	Embryonic digestive tract morphogenesis	IEA
GO:0060214	Process	Endocardium formation	IEA
GO:0060347	Process	Heart trabecula formation	IEA
GO:0060390	Process	Regulation of SMAD protein signal transduction	ISS
GO:0060716	Process	Labyrinthine layer blood vessel development	IEA
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000647	Process	Negative regulation of stem cell proliferation	IEA

Other IDs

• MIM: 616441
• HGNC: 15804
• e!Ensembl: ENSG00000125850

Protein

• UniProt ID: 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

• Sequence:

  MPKVFLVKRRSLGVSVRSWDELPDEKRADTYIPVGLGRLLHDPPEDCRSDGGSSSGSGSS
  SAGEPGGAESSSSPHAPESETPEPGDAEGPDGHLATKQRPVARSKIKFTTGTCSDSVVHS
  CDLCGKGFRLQRMLNRHLKCHNQVKRHLCTFCGKGFNDTFDLKRHVRTHTGIRPYKCNVC
  NKAFTQRCSLESHLKKIHGVQQQYAYKQRRDKLYVCEDCGYTGPTQEDLYLHVNSAHPGS
  SFLKKTSKKLAALLQGKLTSAHQENTSLSEEEERK

• Sequence length: 275

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887	28711739
Corneal dystrophy	Corneal Dystrophy, Band-Shaped	rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Corneal endothelial dystrophy	CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT	rs267607064, rs1600618680, rs80358191, rs80358192, rs727504229	26749309
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Mitochondrial dna deletion syndrome	MITOCHONDRIAL DNA DEPLETION SYNDROME 11	rs587776943, rs587776944, rs1555789140	28711739
Polymorphous corneal dystrophy	Polymorphous corneal dystrophy, Posterior polymorphous corneal dystrophy	rs1592143384, rs2139794959, rs869320627, rs869320628, rs869320629, rs869320630	26749309

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebellar atrophy	Cerebellar atrophy		28711739
Congenital hereditary endothelial dystrophy	Congenital hereditary endothelial dystrophy, Congenital hereditary endothelial dystrophy type I		26749309
Ectropion uveae	Ectropion uveae
Excessive tearing	Excessive tearing
Pilomatrixoma	Pilomatrixoma		26873447
Synechiae	Anterior synechiae