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UniProtKB - P32243 (OTX2_HUMAN)

Protein

Homeobox protein OTX2

Gene

OTX2

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

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 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi38 – 97HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDevelopmental protein, DNA-binding

Enzyme and pathway databases

SIGNORiP32243

Protein family/group databases

MoonDBiP32243 Predicted

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein OTX2
Alternative name(s):
Orthodenticle homolog 2
Gene namesi
Name:OTX2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000165588.16
HGNCiHGNC:8522 OTX2
MIMi600037 gene
neXtProtiNX_P32243

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

Microphthalmia, syndromic, 5 (MCOPS5)4 Publications
The disease is caused by mutations 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.
See also OMIM:610125
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02935489R → G in MCOPS5. 1 PublicationCorresponds to variant dbSNP:rs104894464EnsemblClinVar.1
Natural variantiVAR_06595290R → 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 Publication1
Natural variantiVAR_029355133P → T in MCOPS5. 1 PublicationCorresponds to variant dbSNP:rs376333965Ensembl.1
Natural variantiVAR_029356134P → A in MCOPS5. 1 PublicationCorresponds to variant dbSNP:rs753783256Ensembl.1
Pituitary hormone deficiency, combined, 6 (CPHD6)2 Publications
The disease is caused by mutations 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.
See also OMIM:613986
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078446134P → 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_065953225N → S in CPHD6; acts as a dominant inhibitor of the HESX1 gene. 1 PublicationCorresponds to variant dbSNP:rs370761964EnsemblClinVar.1
Retinal dystrophy, early-onset, with or without pituitary dysfunction (RDEOP)2 Publications
The disease is caused by mutations 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 pituary dysfunction.
See also OMIM:610125
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07379379E → K in RDEOP. 1 PublicationCorresponds to variant dbSNP:rs786205224Ensembl.1

Keywords - Diseasei

Disease mutation, Microphthalmia

Organism-specific databases

DisGeNETi5015
GeneReviewsiOTX2
MalaCardsiOTX2
MIMi610125 phenotype
613986 phenotype
OpenTargetsiENSG00000165588
Orphaneti990 Agnathia-holoprosencephaly-situs inversus syndrome
99001 Butterfly-shaped pigment dystrophy
95494 Combined pituitary hormone deficiencies, genetic forms
2542 Isolated anophthalmia-microphthalmia syndrome
3157 Septo-optic dysplasia spectrum
178364 Syndromic microphthalmia type 5
PharmGKBiPA32849

Polymorphism and mutation databases

BioMutaiOTX2

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000492101 – 289Homeobox protein OTX2Add BLAST289

Proteomic databases

EPDiP32243
PaxDbiP32243
PeptideAtlasiP32243
PRIDEiP32243
ProteomicsDBi54851
54852 [P32243-2]

PTM databases

iPTMnetiP32243
PhosphoSitePlusiP32243

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

BgeeiENSG00000165588 Expressed in 39 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_OTX2
ExpressionAtlasiP32243 baseline and differential
GenevisibleiP32243 HS

Organism-specific databases

HPAiHPA000633

Interactioni

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi111055, 11 interactors
IntActiP32243, 41 interactors
MINTiP32243
STRINGi9606.ENSP00000343819

Structurei

3D structure databases

ProteinModelPortaliP32243
SMRiP32243
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi95 – 101Poly-Gln7

Sequence similaritiesi

Belongs to the paired homeobox family. Bicoid subfamily.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG2251 Eukaryota
ENOG4111XIJ LUCA
GeneTreeiENSGT00930000150828
HOGENOMiHOG000082677
HOVERGENiHBG004028
InParanoidiP32243
KOiK18490
OMAiSTADCLD
PhylomeDBiP32243
TreeFamiTF351179

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR003022 Otx2_TF
IPR003025 Otx_TF
IPR013851 Otx_TF_C
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PF03529 TF_Otx, 1 hit
PRINTSiPR01257 OTX2HOMEOBOX
PR01255 OTXHOMEOBOX
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 3 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 '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
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
Length:289
Mass (Da):31,636
Last modified:October 1, 1993 - v1
Checksum:i66B86D5EAD6E2E7A
GO
Isoform 2 (identifier: P32243-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     32-32: P → PGPWASCPA

Show »
Length:297
Mass (Da):32,406
Checksum:iDB4A3AE99DDA6F6A
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V3P9G3V3P9_HUMAN
Homeobox protein OTX2
OTX2
238Annotation score:
G3V3J3G3V3J3_HUMAN
Homeobox protein OTX2
OTX2
163Annotation score:
F1T0C9F1T0C9_HUMAN
Homeobox protein OTX2
OTX2
35Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07379379E → K in RDEOP. 1 PublicationCorresponds to variant dbSNP:rs786205224Ensembl.1
Natural variantiVAR_02935489R → G in MCOPS5. 1 PublicationCorresponds to variant dbSNP:rs104894464EnsemblClinVar.1
Natural variantiVAR_06595290R → 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 Publication1
Natural variantiVAR_029355133P → T in MCOPS5. 1 PublicationCorresponds to variant dbSNP:rs376333965Ensembl.1
Natural variantiVAR_029356134P → A in MCOPS5. 1 PublicationCorresponds to variant dbSNP:rs753783256Ensembl.1
Natural variantiVAR_078446134P → 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_065953225N → S in CPHD6; acts as a dominant inhibitor of the HESX1 gene. 1 PublicationCorresponds to variant dbSNP:rs370761964EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02100632P → PGPWASCPA in isoform 2. 2 Publications1

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
CCDSiCCDS41960.1 [P32243-1]
CCDS9728.1 [P32243-2]
RefSeqiNP_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]
UniGeneiHs.288655
Hs.741558

Genome annotation databases

EnsembliENST00000339475; ENSP00000343819; ENSG00000165588 [P32243-2]
ENST00000408990; ENSP00000386185; ENSG00000165588 [P32243-1]
ENST00000555006; ENSP00000452336; ENSG00000165588 [P32243-1]
GeneIDi5015
KEGGihsa:5015
UCSCiuc001xcp.5 human [P32243-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar 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
CCDSiCCDS41960.1 [P32243-1]
CCDS9728.1 [P32243-2]
RefSeqiNP_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]
UniGeneiHs.288655
Hs.741558

3D structure databases

ProteinModelPortaliP32243
SMRiP32243
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111055, 11 interactors
IntActiP32243, 41 interactors
MINTiP32243
STRINGi9606.ENSP00000343819

Protein family/group databases

MoonDBiP32243 Predicted

PTM databases

iPTMnetiP32243
PhosphoSitePlusiP32243

Polymorphism and mutation databases

BioMutaiOTX2

Proteomic databases

EPDiP32243
PaxDbiP32243
PeptideAtlasiP32243
PRIDEiP32243
ProteomicsDBi54851
54852 [P32243-2]

Protocols and materials databases

DNASUi5015
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000339475; ENSP00000343819; ENSG00000165588 [P32243-2]
ENST00000408990; ENSP00000386185; ENSG00000165588 [P32243-1]
ENST00000555006; ENSP00000452336; ENSG00000165588 [P32243-1]
GeneIDi5015
KEGGihsa:5015
UCSCiuc001xcp.5 human [P32243-1]

Organism-specific databases

CTDi5015
DisGeNETi5015
EuPathDBiHostDB:ENSG00000165588.16
GeneCardsiOTX2
GeneReviewsiOTX2
HGNCiHGNC:8522 OTX2
HPAiHPA000633
MalaCardsiOTX2
MIMi600037 gene
610125 phenotype
613986 phenotype
neXtProtiNX_P32243
OpenTargetsiENSG00000165588
Orphaneti990 Agnathia-holoprosencephaly-situs inversus syndrome
99001 Butterfly-shaped pigment dystrophy
95494 Combined pituitary hormone deficiencies, genetic forms
2542 Isolated anophthalmia-microphthalmia syndrome
3157 Septo-optic dysplasia spectrum
178364 Syndromic microphthalmia type 5
PharmGKBiPA32849
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2251 Eukaryota
ENOG4111XIJ LUCA
GeneTreeiENSGT00930000150828
HOGENOMiHOG000082677
HOVERGENiHBG004028
InParanoidiP32243
KOiK18490
OMAiSTADCLD
PhylomeDBiP32243
TreeFamiTF351179

Enzyme and pathway databases

SIGNORiP32243

Miscellaneous databases

GeneWikiiOrthodenticle_homeobox_2
GenomeRNAii5015
PROiPR:P32243
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165588 Expressed in 39 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_OTX2
ExpressionAtlasiP32243 baseline and differential
GenevisibleiP32243 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR003022 Otx2_TF
IPR003025 Otx_TF
IPR013851 Otx_TF_C
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PF03529 TF_Otx, 1 hit
PRINTSiPR01257 OTX2HOMEOBOX
PR01255 OTXHOMEOBOX
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiOTX2_HUMAN
AccessioniPrimary (citable) accession number: P32243
Secondary accession number(s): B2RAN5
, Q6GTV3, Q9HAW3, Q9P2R1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: October 1, 1993
Last modified: November 7, 2018
This is version 184 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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