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Protein

Transcription factor Ovo-like 2

Gene

OVOL2

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

Functioni

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 inducer (By similarity). Positively regulates neuronal differentiation (By similarity). Suppresses cell cycling and terminal differentiation of keratinocytes by directly repressing MYC and NOTCH1 (PubMed:19700410). Important for the correct development of primordial germ cells in embryos (By similarity).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

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

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

EuPathDBiHostDB:ENSG00000125850.10
HGNCiHGNC:15804 OVOL2
MIMi616441 gene
neXtProtiNX_Q9BRP0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

DisGeNETi58495
MalaCardsiOVOL2
MIMi122000 phenotype
OpenTargetsiENSG00000125850
Orphaneti98975 Congenital hereditary endothelial dystrophy type I
98973 Posterior polymorphous corneal dystrophy
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
ProteomicsDBi78792
78793 [Q9BRP0-2]

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 Expressed in 132 organ(s), highest expression level in mucosa of transverse colon
CleanExiHS_OVOL2
GenevisibleiQ9BRP0 HS

Organism-specific databases

HPAiHPA038531

Interactioni

Protein-protein interaction databases

BioGridi121825, 15 interactors
CORUMiQ9BRP0
IntActiQ9BRP0, 1 interactor
STRINGi9606.ENSP00000278780

Structurei

3D structure databases

ProteinModelPortaliQ9BRP0
SMRiQ9BRP0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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
GeneTreeiENSGT00920000149010
HOGENOMiHOG000231694
HOVERGENiHBG053384
InParanoidiQ9BRP0
KOiK09216
OMAiFTTGTCN
OrthoDBiEOG091G0LB1
PhylomeDBiQ9BRP0
TreeFamiTF337552

Family and domain databases

InterProiView protein in InterPro
IPR027756 Ovo-like
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PANTHERiPTHR10032 PTHR10032, 1 hit
PfamiView protein in Pfam
PF00096 zf-C2H2, 2 hits
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 4 hits
SUPFAMiSSF57667 SSF57667, 2 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 3 hits
PS50157 ZINC_FINGER_C2H2_2, 4 hits

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 Genomic DNA No translation available.
AL160411 Genomic DNA No translation available.
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

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK022284 mRNA Translation: BAB14002.1
BT007295 mRNA Translation: AAP35959.1
AL121585 Genomic DNA No translation available.
AL160411 Genomic DNA No translation available.
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
SMRiQ9BRP0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121825, 15 interactors
CORUMiQ9BRP0
IntActiQ9BRP0, 1 interactor
STRINGi9606.ENSP00000278780

PTM databases

iPTMnetiQ9BRP0
PhosphoSitePlusiQ9BRP0

Polymorphism and mutation databases

BioMutaiOVOL2
DMDMi23396998

Proteomic databases

EPDiQ9BRP0
MaxQBiQ9BRP0
PaxDbiQ9BRP0
PeptideAtlasiQ9BRP0
PRIDEiQ9BRP0
ProteomicsDBi78792
78793 [Q9BRP0-2]

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
DisGeNETi58495
EuPathDBiHostDB:ENSG00000125850.10
GeneCardsiOVOL2
HGNCiHGNC:15804 OVOL2
HPAiHPA038531
MalaCardsiOVOL2
MIMi122000 phenotype
616441 gene
neXtProtiNX_Q9BRP0
OpenTargetsiENSG00000125850
Orphaneti98975 Congenital hereditary endothelial dystrophy type I
98973 Posterior polymorphous corneal dystrophy
PharmGKBiPA38039
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3576 Eukaryota
ENOG4111H28 LUCA
GeneTreeiENSGT00920000149010
HOGENOMiHOG000231694
HOVERGENiHBG053384
InParanoidiQ9BRP0
KOiK09216
OMAiFTTGTCN
OrthoDBiEOG091G0LB1
PhylomeDBiQ9BRP0
TreeFamiTF337552

Miscellaneous databases

GenomeRNAii58495
PROiPR:Q9BRP0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125850 Expressed in 132 organ(s), highest expression level in mucosa of transverse colon
CleanExiHS_OVOL2
GenevisibleiQ9BRP0 HS

Family and domain databases

InterProiView protein in InterPro
IPR027756 Ovo-like
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PANTHERiPTHR10032 PTHR10032, 1 hit
PfamiView protein in Pfam
PF00096 zf-C2H2, 2 hits
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 4 hits
SUPFAMiSSF57667 SSF57667, 2 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 3 hits
PS50157 ZINC_FINGER_C2H2_2, 4 hits
ProtoNetiSearch...

Entry informationi

Entry nameiOVOL2_HUMAN
AccessioniPrimary (citable) accession number: Q9BRP0
Secondary accession number(s): Q5T8B4
, Q9BX22, Q9HA54, Q9Y4M0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: June 1, 2001
Last modified: November 7, 2018
This is version 158 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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