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Protein

Homeobox protein OTX2

Gene

OTX2

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

Functioni

Probably plays a role in the development of the brain and the sense organs. Can bind to the BCD target sequence (BTS): 5'-TCTAATCCC-3'.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi38 – 9760HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

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 from RNA polymerase II promoter Source: UniProtKB
  • primitive streak formation Source: UniProtKB
  • protein complex assembly Source: UniProtKB
  • regulation of fibroblast growth factor receptor signaling pathway Source: UniProtKB
  • regulation of smoothened signaling pathway Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

SIGNORiP32243.

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:8522. OTX2.

Subcellular locationi

GO - Cellular componenti

  • growth cone Source: UniProtKB
  • nucleus Source: ParkinsonsUK-UCL
  • protein complex Source: UniProtKB
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti89 – 891R → G in MCOPS5. 1 Publication
Corresponds to variant rs104894464 [ dbSNP | Ensembl ].
VAR_029354
Natural varianti90 – 901R → 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
VAR_065952
Natural varianti133 – 1331P → T in MCOPS5. 1 Publication
Corresponds to variant rs376333965 [ dbSNP | Ensembl ].
VAR_029355
Natural varianti134 – 1341P → A in MCOPS5. 1 Publication
Corresponds to variant rs753783256 [ dbSNP | Ensembl ].
VAR_029356
Pituitary hormone deficiency, combined, 6 (CPHD6)1 Publication
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti225 – 2251N → S in CPHD6; acts as a dominant inhibitor of the HESX1 gene. 1 Publication
Corresponds to variant rs370761964 [ dbSNP | Ensembl ].
VAR_065953
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti79 – 791E → K in RDEOP. 1 Publication
Corresponds to variant rs786205224 [ dbSNP | Ensembl ].
VAR_073793

Keywords - Diseasei

Disease mutation, Microphthalmia

Organism-specific databases

MalaCardsiOTX2.
MIMi610125. phenotype.
613986. phenotype.
Orphaneti990. Agnathia - holoprosencephaly - situs inversus.
95494. Combined pituitary hormone deficiencies, genetic forms.
2542. Isolated anophthalmia - microphthalmia.
3157. Septo-optic dysplasia.
178364. Syndromic microphthalmia type 5.
PharmGKBiPA32849.

Polymorphism and mutation databases

BioMutaiOTX2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 289289Homeobox protein OTX2PRO_0000049210Add
BLAST

Proteomic databases

EPDiP32243.
PaxDbiP32243.
PeptideAtlasiP32243.
PRIDEiP32243.

PTM databases

iPTMnetiP32243.
PhosphoSiteiP32243.

Expressioni

Tissue specificityi

Expressed in brain.

Developmental stagei

Embryo. Expression in the retina peaks at fetal days 48-54. At 6-, 8- and 10-week old, in the retina, the expression is strongest in the retinal pigment epithelium (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000165588.
CleanExiHS_OTX2.
ExpressionAtlasiP32243. baseline and differential.
GenevisibleiP32243. HS.

Organism-specific databases

HPAiHPA000633.

Interactioni

GO - Molecular functioni

  • eukaryotic initiation factor 4E binding Source: UniProtKB

Protein-protein interaction databases

BioGridi111055. 7 interactions.
IntActiP32243. 4 interactions.
MINTiMINT-2861458.
STRINGi9606.ENSP00000343819.

Structurei

3D structure databases

ProteinModelPortaliP32243.
SMRiP32243. Positions 39-106.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi95 – 1017Poly-Gln

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG2251. Eukaryota.
ENOG4111XIJ. LUCA.
GeneTreeiENSGT00820000126963.
HOGENOMiHOG000082677.
HOVERGENiHBG004028.
InParanoidiP32243.
KOiK18490.
OMAiQNKVRPP.
PhylomeDBiP32243.
TreeFamiTF351179.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR003022. Otx2_TF.
IPR003025. Otx_TF.
IPR013851. Otx_TF_C.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF03529. TF_Otx. 1 hit.
[Graphical view]
PRINTSiPR01257. OTX2HOMEOBOX.
PR01255. OTXHOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti79 – 791E → K in RDEOP. 1 Publication
Corresponds to variant rs786205224 [ dbSNP | Ensembl ].
VAR_073793
Natural varianti89 – 891R → G in MCOPS5. 1 Publication
Corresponds to variant rs104894464 [ dbSNP | Ensembl ].
VAR_029354
Natural varianti90 – 901R → 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
VAR_065952
Natural varianti133 – 1331P → T in MCOPS5. 1 Publication
Corresponds to variant rs376333965 [ dbSNP | Ensembl ].
VAR_029355
Natural varianti134 – 1341P → A in MCOPS5. 1 Publication
Corresponds to variant rs753783256 [ dbSNP | Ensembl ].
VAR_029356
Natural varianti225 – 2251N → S in CPHD6; acts as a dominant inhibitor of the HESX1 gene. 1 Publication
Corresponds to variant rs370761964 [ dbSNP | Ensembl ].
VAR_065953

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei32 – 321P → PGPWASCPA in isoform 2. 2 PublicationsVSP_021006

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

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. Positions 39-106.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111055. 7 interactions.
IntActiP32243. 4 interactions.
MINTiMINT-2861458.
STRINGi9606.ENSP00000343819.

PTM databases

iPTMnetiP32243.
PhosphoSiteiP32243.

Polymorphism and mutation databases

BioMutaiOTX2.

Proteomic databases

EPDiP32243.
PaxDbiP32243.
PeptideAtlasiP32243.
PRIDEiP32243.

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.
GeneCardsiOTX2.
GeneReviewsiOTX2.
HGNCiHGNC:8522. OTX2.
HPAiHPA000633.
MalaCardsiOTX2.
MIMi600037. gene.
610125. phenotype.
613986. phenotype.
neXtProtiNX_P32243.
Orphaneti990. Agnathia - holoprosencephaly - situs inversus.
95494. Combined pituitary hormone deficiencies, genetic forms.
2542. Isolated anophthalmia - microphthalmia.
3157. Septo-optic dysplasia.
178364. Syndromic microphthalmia type 5.
PharmGKBiPA32849.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2251. Eukaryota.
ENOG4111XIJ. LUCA.
GeneTreeiENSGT00820000126963.
HOGENOMiHOG000082677.
HOVERGENiHBG004028.
InParanoidiP32243.
KOiK18490.
OMAiQNKVRPP.
PhylomeDBiP32243.
TreeFamiTF351179.

Enzyme and pathway databases

SIGNORiP32243.

Miscellaneous databases

GeneWikiiOrthodenticle_homeobox_2.
GenomeRNAii5015.
PROiP32243.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165588.
CleanExiHS_OTX2.
ExpressionAtlasiP32243. baseline and differential.
GenevisibleiP32243. HS.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR003022. Otx2_TF.
IPR003025. Otx_TF.
IPR013851. Otx_TF_C.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF03529. TF_Otx. 1 hit.
[Graphical view]
PRINTSiPR01257. OTX2HOMEOBOX.
PR01255. OTXHOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiOTX2_HUMAN
AccessioniPrimary (citable) accession number: P32243
Secondary accession number(s): B2RAN5
, Q6GTV3, Q9HAW3, Q9P2R1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: October 1, 1993
Last modified: September 7, 2016
This is version 164 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 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  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. 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.