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UniProtKB - P32243 (OTX2_HUMAN)
Protein
Homeobox protein OTX2
Gene
OTX2
Organism
Homo sapiens (Human)
Status
Functioni
Transcription factor probably involved in the development of the brain and the sense organs. Can bind to the bicoid/BCD target sequence (BTS): 5'-TCTAATCCC-3'.
1 PublicationRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 38 – 97 | HomeoboxPROSITE-ProRule annotationAdd BLAST | 60 |
GO - Molecular functioni
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- eukaryotic initiation factor 4E binding Source: UniProtKB
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: NTNU_SB
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- axon guidance Source: UniProtKB
- dopaminergic neuron differentiation Source: ParkinsonsUK-UCL
- forebrain development Source: UniProtKB
- midbrain development Source: UniProtKB
- positive regulation of embryonic development Source: UniProtKB
- positive regulation of gastrulation Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- primitive streak formation Source: UniProtKB
- protein-containing complex assembly Source: UniProtKB
- regulation of fibroblast growth factor receptor signaling pathway Source: UniProtKB
- regulation of smoothened signaling pathway Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: GO_Central
Keywordsi
Molecular function | Developmental protein, DNA-binding |
Enzyme and pathway databases
PathwayCommonsi | P32243 |
SignaLinki | P32243 |
SIGNORi | P32243 |
Protein family/group databases
MoonDBi | P32243, Predicted |
Names & Taxonomyi
Protein namesi | Recommended name: Homeobox protein OTX2Alternative name(s): Orthodenticle homolog 2 |
Gene namesi | Name:OTX2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:8522, OTX2 |
MIMi | 600037, gene |
neXtProti | NX_P32243 |
VEuPathDBi | HostDB:ENSG00000165588 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Nucleus
- nucleus Source: ParkinsonsUK-UCL
Other locations
- chromatin Source: NTNU_SB
- growth cone Source: UniProtKB
- protein-containing complex Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Microphthalmia, syndromic, 5 (MCOPS5)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionPatients manifest unilateral or bilateral microphthalmia/clinical anophthalmia and variable additional features including pituitary dysfunction, coloboma, microcornea, cataract, retinal dystrophy, hypoplasia or agenesis of the optic nerve, agenesis of the corpus callosum, developmental delay, joint laxity, hypotonia, and seizures. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_029354 | 89 | R → G in MCOPS5. 1 PublicationCorresponds to variant dbSNP:rs104894464Ensembl. | 1 | |
Natural variantiVAR_065952 | 90 | R → S in MCOPS5; does not affect the expression or nuclear localization of the protein but inhibits its DNA-binding activity as well as its transactivation capability; the protein is non-functional. 1 Publication | 1 | |
Natural variantiVAR_029355 | 133 | P → T in MCOPS5. 1 PublicationCorresponds to variant dbSNP:rs376333965Ensembl. | 1 | |
Natural variantiVAR_029356 | 134 | P → A in MCOPS5. 1 PublicationCorresponds to variant dbSNP:rs753783256Ensembl. | 1 |
Pituitary hormone deficiency, combined, 6 (CPHD6)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionCombined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD6 patients manifest neonatal hypoglycemia, and deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078446 | 134 | P → R in CPHD6; unknown pathological significance; loss of transcriptional activity, when tested on bicoid binding sites; decreases transactivation mediated by the wild-type protein, when tested on bicoid binding sites; no effect on DNA-binding. 1 PublicationCorresponds to variant dbSNP:rs199761861Ensembl. | 1 | |
Natural variantiVAR_065953 | 225 | N → S in CPHD6; acts as a dominant inhibitor of the HESX1 gene. 1 PublicationCorresponds to variant dbSNP:rs370761964Ensembl. | 1 |
Retinal dystrophy, early-onset, with or without pituitary dysfunction (RDEOP)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant ocular disease characterized by pattern dystrophy of the retinal pigment epithelium, and photoreceptor degeneration. Mild developmental anomalies include optic nerve head dysplasia, microcornea, and Rathke's cleft cyst. Some patients manifest pituitary dysfunction.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073793 | 79 | E → K in RDEOP. 1 PublicationCorresponds to variant dbSNP:rs786205224Ensembl. | 1 |
Keywords - Diseasei
Disease variant, MicrophthalmiaOrganism-specific databases
DisGeNETi | 5015 |
MalaCardsi | OTX2 |
MIMi | 610125, phenotype 613986, phenotype |
OpenTargetsi | ENSG00000165588 |
Orphaneti | 990, Agnathia-holoprosencephaly-situs inversus syndrome 99001, Butterfly-shaped pigment dystrophy 98938, Colobomatous microphthalmia 95494, Combined pituitary hormone deficiencies, genetic forms 35612, Nanophthalmos 3157, Septo-optic dysplasia spectrum 178364, Syndromic microphthalmia type 5 |
PharmGKBi | PA32849 |
Miscellaneous databases
Pharosi | P32243, Tbio |
Genetic variation databases
BioMutai | OTX2 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000049210 | 1 – 289 | Homeobox protein OTX2Add BLAST | 289 |
Proteomic databases
EPDi | P32243 |
jPOSTi | P32243 |
MassIVEi | P32243 |
PaxDbi | P32243 |
PeptideAtlasi | P32243 |
PRIDEi | P32243 |
ProteomicsDBi | 54851 [P32243-1] 54852 [P32243-2] |
PTM databases
GlyGeni | P32243, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | P32243 |
PhosphoSitePlusi | P32243 |
Expressioni
Developmental stagei
At Carnegie stage (CS) 14, widely expressed throughout the telencephalon and mesencephalon, with a sharp cutoff at the midbrain-hindbrain boundary. At CS16, found in the lamina terminalis and the floor of the telencephalon. At CS16-CS19, in the developing eye, strongly expressed in the retinal pigment epithelium layer and more weakly in the neural retina, not expressed in the optic nerve itself (at protein level). Retinal expression peaks between CS19 and CS21 and decline in older fetuses. At CS22, detected in the choroid plexus, the dorsal thalamus, and the roof of the mesencephalon. In the developing nasal structures, expressed in the olfactory epithelium of the nasal pits at CS18.2 Publications
Gene expression databases
Bgeei | ENSG00000165588, Expressed in pigmented layer of retina and 53 other tissues |
ExpressionAtlasi | P32243, baseline and differential |
Genevisiblei | P32243, HS |
Organism-specific databases
HPAi | ENSG00000165588, Group enriched (choroid plexus, retina) |
Interactioni
Binary interactionsi
Isoform 2 [P32243-2]
GO - Molecular functioni
- eukaryotic initiation factor 4E binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 111055, 66 interactors |
IntActi | P32243, 40 interactors |
MINTi | P32243 |
STRINGi | 9606.ENSP00000343819 |
Miscellaneous databases
RNActi | P32243, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 93 – 143 | DisorderedSequence analysisAdd BLAST | 51 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 93 – 109 | Polar residuesSequence analysisAdd BLAST | 17 | |
Compositional biasi | 120 – 143 | Polar residuesSequence analysisAdd BLAST | 24 |
Sequence similaritiesi
Keywords - Domaini
HomeoboxPhylogenomic databases
eggNOGi | KOG2251, Eukaryota |
GeneTreei | ENSGT00940000155014 |
HOGENOMi | CLU_064370_0_0_1 |
InParanoidi | P32243 |
OMAi | KSPHYAM |
OrthoDBi | 935804at2759 |
PhylomeDBi | P32243 |
TreeFami | TF351179 |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR003022, Otx2_TF IPR003025, Otx_TF IPR013851, Otx_TF_C |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF03529, TF_Otx, 1 hit |
PRINTSi | PR01257, OTX2HOMEOBOX PR01255, OTXHOMEOBOX |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: P32243-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MMSYLKQPPY AVNGLSLTTS GMDLLHPSVG YPATPRKQRR ERTTFTRAQL
60 70 80 90 100
DVLEALFAKT RYPDIFMREE VALKINLPES RVQVWFKNRR AKCRQQQQQQ
110 120 130 140 150
QNGGQNKVRP AKKKTSPARE VSSESGTSGQ FTPPSSTSVP TIASSSAPVS
160 170 180 190 200
IWSPASISPL SDPLSTSSSC MQRSYPMTYT QASGYSQGYA GSTSYFGGMD
210 220 230 240 250
CGSYLTPMHH QLPGPGATLS PMGTNAVTSH LNQSPASLST QGYGASSLGF
260 270 280
NSTTDCLDYK DQTASWKLNF NADCLDYKDQ TSSWKFQVL
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketG3V3P9 | G3V3P9_HUMAN | Homeobox protein OTX2 | OTX2 | 238 | Annotation score: | ||
G3V3J3 | G3V3J3_HUMAN | Homeobox protein OTX2 | OTX2 | 163 | Annotation score: | ||
A0A5F9ZHY1 | A0A5F9ZHY1_HUMAN | Homeobox protein OTX2 | OTX2 | 168 | Annotation score: | ||
F1T0C9 | F1T0C9_HUMAN | Homeobox protein OTX2 | OTX2 | 35 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073793 | 79 | E → K in RDEOP. 1 PublicationCorresponds to variant dbSNP:rs786205224Ensembl. | 1 | |
Natural variantiVAR_029354 | 89 | R → G in MCOPS5. 1 PublicationCorresponds to variant dbSNP:rs104894464Ensembl. | 1 | |
Natural variantiVAR_065952 | 90 | R → S in MCOPS5; does not affect the expression or nuclear localization of the protein but inhibits its DNA-binding activity as well as its transactivation capability; the protein is non-functional. 1 Publication | 1 | |
Natural variantiVAR_029355 | 133 | P → T in MCOPS5. 1 PublicationCorresponds to variant dbSNP:rs376333965Ensembl. | 1 | |
Natural variantiVAR_029356 | 134 | P → A in MCOPS5. 1 PublicationCorresponds to variant dbSNP:rs753783256Ensembl. | 1 | |
Natural variantiVAR_078446 | 134 | P → R in CPHD6; unknown pathological significance; loss of transcriptional activity, when tested on bicoid binding sites; decreases transactivation mediated by the wild-type protein, when tested on bicoid binding sites; no effect on DNA-binding. 1 PublicationCorresponds to variant dbSNP:rs199761861Ensembl. | 1 | |
Natural variantiVAR_065953 | 225 | N → S in CPHD6; acts as a dominant inhibitor of the HESX1 gene. 1 PublicationCorresponds to variant dbSNP:rs370761964Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_021006 | 32 | P → PGPWASCPA in isoform 2. 2 Publications | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF298117 Genomic DNA Translation: AAG16243.1 AF093138 mRNA Translation: AAD31385.1 AK314271 mRNA Translation: BAG36932.1 CH471061 Genomic DNA Translation: EAW80692.1 BC032579 mRNA Translation: AAH32579.1 AB037505 Genomic DNA Translation: BAA90425.1 |
CCDSi | CCDS41960.1 [P32243-1] CCDS9728.1 [P32243-2] |
RefSeqi | NP_001257452.1, NM_001270523.1 [P32243-1] NP_001257453.1, NM_001270524.1 [P32243-1] NP_001257454.1, NM_001270525.1 [P32243-2] NP_068374.1, NM_021728.3 [P32243-2] NP_758840.1, NM_172337.2 [P32243-1] |
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF298117 Genomic DNA Translation: AAG16243.1 AF093138 mRNA Translation: AAD31385.1 AK314271 mRNA Translation: BAG36932.1 CH471061 Genomic DNA Translation: EAW80692.1 BC032579 mRNA Translation: AAH32579.1 AB037505 Genomic DNA Translation: BAA90425.1 |
CCDSi | CCDS41960.1 [P32243-1] CCDS9728.1 [P32243-2] |
RefSeqi | NP_001257452.1, NM_001270523.1 [P32243-1] NP_001257453.1, NM_001270524.1 [P32243-1] NP_001257454.1, NM_001270525.1 [P32243-2] NP_068374.1, NM_021728.3 [P32243-2] NP_758840.1, NM_172337.2 [P32243-1] |
3D structure databases
AlphaFoldDBi | P32243 |
BMRBi | P32243 |
SMRi | P32243 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 111055, 66 interactors |
IntActi | P32243, 40 interactors |
MINTi | P32243 |
STRINGi | 9606.ENSP00000343819 |
Protein family/group databases
MoonDBi | P32243, Predicted |
PTM databases
GlyGeni | P32243, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | P32243 |
PhosphoSitePlusi | P32243 |
Genetic variation databases
BioMutai | OTX2 |
Proteomic databases
EPDi | P32243 |
jPOSTi | P32243 |
MassIVEi | P32243 |
PaxDbi | P32243 |
PeptideAtlasi | P32243 |
PRIDEi | P32243 |
ProteomicsDBi | 54851 [P32243-1] 54852 [P32243-2] |
Protocols and materials databases
Antibodypediai | 49, 427 antibodies from 38 providers |
DNASUi | 5015 |
Genome annotation databases
Organism-specific databases
CTDi | 5015 |
DisGeNETi | 5015 |
GeneCardsi | OTX2 |
HGNCi | HGNC:8522, OTX2 |
HPAi | ENSG00000165588, Group enriched (choroid plexus, retina) |
MalaCardsi | OTX2 |
MIMi | 600037, gene 610125, phenotype 613986, phenotype |
neXtProti | NX_P32243 |
OpenTargetsi | ENSG00000165588 |
Orphaneti | 990, Agnathia-holoprosencephaly-situs inversus syndrome 99001, Butterfly-shaped pigment dystrophy 98938, Colobomatous microphthalmia 95494, Combined pituitary hormone deficiencies, genetic forms 35612, Nanophthalmos 3157, Septo-optic dysplasia spectrum 178364, Syndromic microphthalmia type 5 |
PharmGKBi | PA32849 |
VEuPathDBi | HostDB:ENSG00000165588 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2251, Eukaryota |
GeneTreei | ENSGT00940000155014 |
HOGENOMi | CLU_064370_0_0_1 |
InParanoidi | P32243 |
OMAi | KSPHYAM |
OrthoDBi | 935804at2759 |
PhylomeDBi | P32243 |
TreeFami | TF351179 |
Enzyme and pathway databases
PathwayCommonsi | P32243 |
SignaLinki | P32243 |
SIGNORi | P32243 |
Miscellaneous databases
BioGRID-ORCSi | 5015, 21 hits in 1092 CRISPR screens |
GeneWikii | Orthodenticle_homeobox_2 |
GenomeRNAii | 5015 |
Pharosi | P32243, Tbio |
PROi | PR:P32243 |
RNActi | P32243, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000165588, Expressed in pigmented layer of retina and 53 other tissues |
ExpressionAtlasi | P32243, baseline and differential |
Genevisiblei | P32243, HS |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR003022, Otx2_TF IPR003025, Otx_TF IPR013851, Otx_TF_C |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF03529, TF_Otx, 1 hit |
PRINTSi | PR01257, OTX2HOMEOBOX PR01255, OTXHOMEOBOX |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | OTX2_HUMAN | |
Accessioni | P32243Primary (citable) accession number: P32243 Secondary accession number(s): B2RAN5 Q9P2R1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1993 |
Last sequence update: | October 1, 1993 | |
Last modified: | May 25, 2022 | |
This is version 205 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families