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Protein

Transcription factor Ovo-like 2

Gene

OVOL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri119 – 141C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri147 – 169C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri175 – 198C2H2-type 3PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri214 – 237C2H2-type 4PROSITE-ProRule annotationAdd BLAST24

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000125850-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor Ovo-like 2
Short name:
hOvo2
Alternative name(s):
Zinc finger protein 339
Gene namesi
Name:OVOL2
Synonyms:ZNF339
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:15804. OVOL2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Corneal dystrophy, posterior polymorphous, 1 (PPCD1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. Disease-causing mutations in the OVOL2 promoter alter promoter activity, dysregulate OVOL2 expression, and probably induce OVOL2 ectopic expression in the corneal endothelium.1 Publication
Disease descriptionA rare corneal disorder characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, an altered corneal endothelial cell structure, and an unusual proliferation of endothelial cells. Symptoms can range from very aggressive to asymptomatic and non-progressive, even within the same family.
See also OMIM:122000

Keywords - Diseasei

Corneal dystrophy

Organism-specific databases

MIMi122000. phenotype.
OpenTargetsiENSG00000125850.
PharmGKBiPA38039.

Polymorphism and mutation databases

BioMutaiOVOL2.
DMDMi23396998.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000470131 – 275Transcription factor Ovo-like 2Add BLAST275

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei269PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BRP0.
MaxQBiQ9BRP0.
PaxDbiQ9BRP0.
PeptideAtlasiQ9BRP0.
PRIDEiQ9BRP0.

PTM databases

iPTMnetiQ9BRP0.
PhosphoSitePlusiQ9BRP0.

Expressioni

Tissue specificityi

Expressed in testis, ovary, heart and skeletal muscle (PubMed:12213202). Expressed in the cornea, but absent from the corneal endothelium (PubMed:26749309).2 Publications

Gene expression databases

BgeeiENSG00000125850.
CleanExiHS_OVOL2.
GenevisibleiQ9BRP0. HS.

Organism-specific databases

HPAiHPA038531.

Interactioni

Protein-protein interaction databases

BioGridi121825. 1 interactor.
MINTiMINT-2816000.
STRINGi9606.ENSP00000278780.

Structurei

3D structure databases

ProteinModelPortaliQ9BRP0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Contains 4 C2H2-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri119 – 141C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri147 – 169C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri175 – 198C2H2-type 3PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri214 – 237C2H2-type 4PROSITE-ProRule annotationAdd BLAST24

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG3576. Eukaryota.
ENOG4111H28. LUCA.
GeneTreeiENSGT00860000133786.
HOGENOMiHOG000231694.
HOVERGENiHBG053384.
InParanoidiQ9BRP0.
KOiK09216.
OMAiHPGSTFL.
OrthoDBiEOG091G0LB1.
PhylomeDBiQ9BRP0.
TreeFamiTF337552.

Family and domain databases

Gene3Di3.30.160.60. 3 hits.
InterProiIPR027775. C2H2_Znf_fam.
IPR027755. TF_Ovo-like.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PANTHERiPTHR10032. PTHR10032. 1 hit.
PTHR10032:SF193. PTHR10032:SF193. 1 hit.
SMARTiSM00355. ZnF_C2H2. 4 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 3 hits.
PS50157. ZINC_FINGER_C2H2_2. 4 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BRP0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MPKVFLVKRR SLGVSVRSWD ELPDEKRADT YIPVGLGRLL HDPPEDCRSD
60 70 80 90 100
GGSSSGSGSS SAGEPGGAES SSSPHAPESE TPEPGDAEGP DGHLATKQRP
110 120 130 140 150
VARSKIKFTT GTCSDSVVHS CDLCGKGFRL QRMLNRHLKC HNQVKRHLCT
160 170 180 190 200
FCGKGFNDTF DLKRHVRTHT GIRPYKCNVC NKAFTQRCSL ESHLKKIHGV
210 220 230 240 250
QQQYAYKQRR DKLYVCEDCG YTGPTQEDLY LHVNSAHPGS SFLKKTSKKL
260 270
AALLQGKLTS AHQENTSLSE EEERK
Length:275
Mass (Da):30,438
Last modified:June 1, 2001 - v1
Checksum:i3563EC44510E04AB
GO
Isoform 2 (identifier: Q9BRP0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-132: Missing.

Note: No experimental confirmation available.
Show »
Length:143
Mass (Da):16,565
Checksum:iD31E5CE44B06FB2A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti264E → G in BAB14002 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0382601 – 132Missing in isoform 2. CuratedAdd BLAST132

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK022284 mRNA. Translation: BAB14002.1.
BT007295 mRNA. Translation: AAP35959.1.
AL121585, AL160411 Genomic DNA. Translation: CAI14857.1.
AL160411, AL121585 Genomic DNA. Translation: CAI22534.1.
CH471133 Genomic DNA. Translation: EAX10258.1.
CH471133 Genomic DNA. Translation: EAX10259.1.
BC006148 mRNA. Translation: AAH06148.1.
AL079276 mRNA. Translation: CAB45151.1.
CCDSiCCDS13132.1. [Q9BRP0-1]
RefSeqiNP_001290390.1. NM_001303461.1. [Q9BRP0-2]
NP_001290391.1. NM_001303462.1. [Q9BRP0-2]
NP_067043.2. NM_021220.3. [Q9BRP0-1]
UniGeneiHs.661013.
Hs.710157.

Genome annotation databases

EnsembliENST00000278780; ENSP00000278780; ENSG00000125850. [Q9BRP0-1]
GeneIDi58495.
KEGGihsa:58495.
UCSCiuc002wqi.1. human. [Q9BRP0-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK022284 mRNA. Translation: BAB14002.1.
BT007295 mRNA. Translation: AAP35959.1.
AL121585, AL160411 Genomic DNA. Translation: CAI14857.1.
AL160411, AL121585 Genomic DNA. Translation: CAI22534.1.
CH471133 Genomic DNA. Translation: EAX10258.1.
CH471133 Genomic DNA. Translation: EAX10259.1.
BC006148 mRNA. Translation: AAH06148.1.
AL079276 mRNA. Translation: CAB45151.1.
CCDSiCCDS13132.1. [Q9BRP0-1]
RefSeqiNP_001290390.1. NM_001303461.1. [Q9BRP0-2]
NP_001290391.1. NM_001303462.1. [Q9BRP0-2]
NP_067043.2. NM_021220.3. [Q9BRP0-1]
UniGeneiHs.661013.
Hs.710157.

3D structure databases

ProteinModelPortaliQ9BRP0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121825. 1 interactor.
MINTiMINT-2816000.
STRINGi9606.ENSP00000278780.

PTM databases

iPTMnetiQ9BRP0.
PhosphoSitePlusiQ9BRP0.

Polymorphism and mutation databases

BioMutaiOVOL2.
DMDMi23396998.

Proteomic databases

EPDiQ9BRP0.
MaxQBiQ9BRP0.
PaxDbiQ9BRP0.
PeptideAtlasiQ9BRP0.
PRIDEiQ9BRP0.

Protocols and materials databases

DNASUi58495.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000278780; ENSP00000278780; ENSG00000125850. [Q9BRP0-1]
GeneIDi58495.
KEGGihsa:58495.
UCSCiuc002wqi.1. human. [Q9BRP0-1]

Organism-specific databases

CTDi58495.
GeneCardsiOVOL2.
HGNCiHGNC:15804. OVOL2.
HPAiHPA038531.
MIMi122000. phenotype.
616441. gene.
neXtProtiNX_Q9BRP0.
OpenTargetsiENSG00000125850.
PharmGKBiPA38039.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3576. Eukaryota.
ENOG4111H28. LUCA.
GeneTreeiENSGT00860000133786.
HOGENOMiHOG000231694.
HOVERGENiHBG053384.
InParanoidiQ9BRP0.
KOiK09216.
OMAiHPGSTFL.
OrthoDBiEOG091G0LB1.
PhylomeDBiQ9BRP0.
TreeFamiTF337552.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000125850-MONOMER.

Miscellaneous databases

GenomeRNAii58495.
PROiQ9BRP0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125850.
CleanExiHS_OVOL2.
GenevisibleiQ9BRP0. HS.

Family and domain databases

Gene3Di3.30.160.60. 3 hits.
InterProiIPR027775. C2H2_Znf_fam.
IPR027755. TF_Ovo-like.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PANTHERiPTHR10032. PTHR10032. 1 hit.
PTHR10032:SF193. PTHR10032:SF193. 1 hit.
SMARTiSM00355. ZnF_C2H2. 4 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 3 hits.
PS50157. ZINC_FINGER_C2H2_2. 4 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiOVOL2_HUMAN
AccessioniPrimary (citable) accession number: Q9BRP0
Secondary accession number(s): Q5T8B4
, Q9BX22, Q9HA54, Q9Y4M0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: June 1, 2001
Last modified: November 30, 2016
This is version 140 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.