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P32243

- OTX2_HUMAN

UniProt

P32243 - OTX2_HUMAN

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Protein

Homeobox protein OTX2

Gene

OTX2

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. eukaryotic initiation factor 4E binding Source: UniProtKB
  2. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB
  3. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: UniProtKB

GO - Biological processi

  1. axon guidance Source: UniProtKB
  2. cell fate specification Source: Ensembl
  3. diencephalon morphogenesis Source: Ensembl
  4. dorsal/ventral pattern formation Source: Ensembl
  5. endoderm development Source: Ensembl
  6. eye photoreceptor cell fate commitment Source: Ensembl
  7. forebrain development Source: UniProtKB
  8. inner ear morphogenesis Source: Ensembl
  9. metencephalon development Source: Ensembl
  10. midbrain development Source: UniProtKB
  11. neuron fate determination Source: Ensembl
  12. positive regulation of embryonic development Source: UniProtKB
  13. positive regulation of gastrulation Source: UniProtKB
  14. positive regulation of transcription, DNA-templated Source: UniProtKB
  15. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  16. primitive streak formation Source: UniProtKB
  17. protein complex assembly Source: UniProtKB
  18. regulation of fibroblast growth factor receptor signaling pathway Source: UniProtKB
  19. regulation of smoothened signaling pathway Source: UniProtKB
  20. somite rostral/caudal axis specification Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:8522. OTX2.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. cytoplasm Source: Ensembl
  2. growth cone Source: UniProtKB
  3. nucleus Source: UniProtKB-KW
  4. protein complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125]: Patients 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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti89 – 891R → G in MCOPS5. 1 Publication
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
VAR_029355
Natural varianti134 – 1341P → A in MCOPS5. 1 Publication
VAR_029356
Pituitary hormone deficiency, combined, 6 (CPHD6) [MIM:613986]: Combined 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti225 – 2251N → S in CPHD6; acts as a dominant inhibitor of the HESX1 gene. 1 Publication
VAR_065953

Keywords - Diseasei

Disease mutation, Microphthalmia

Organism-specific databases

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.

PTM / Processingi

Molecule processing

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

Proteomic databases

PaxDbiP32243.
PRIDEiP32243.

PTM databases

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

BgeeiP32243.
CleanExiHS_OTX2.
ExpressionAtlasiP32243. baseline and differential.
GenevestigatoriP32243.

Organism-specific databases

HPAiHPA000633.

Interactioni

Protein-protein interaction databases

BioGridi111055. 6 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

eggNOGiNOG245767.
GeneTreeiENSGT00760000118908.
HOGENOMiHOG000082677.
HOVERGENiHBG004028.
InParanoidiP32243.
KOiK18490.
OMAiNRRAKCH.
OrthoDBiEOG74J98P.
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. Align

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 varianti89 – 891R → G in MCOPS5. 1 Publication
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
VAR_029355
Natural varianti134 – 1341P → A in MCOPS5. 1 Publication
VAR_029356
Natural varianti225 – 2251N → S in CPHD6; acts as a dominant inhibitor of the HESX1 gene. 1 Publication
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.4. 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 .
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 ]
UniGenei Hs.288655.
Hs.741558.

3D structure databases

ProteinModelPortali P32243.
SMRi P32243. Positions 39-106.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111055. 6 interactions.
IntActi P32243. 4 interactions.
MINTi MINT-2861458.
STRINGi 9606.ENSP00000343819.

PTM databases

PhosphoSitei P32243.

Proteomic databases

PaxDbi P32243.
PRIDEi P32243.

Protocols and materials databases

DNASUi 5015.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000339475 ; ENSP00000343819 ; ENSG00000165588 . [P32243-2 ]
ENST00000408990 ; ENSP00000386185 ; ENSG00000165588 . [P32243-1 ]
ENST00000555006 ; ENSP00000452336 ; ENSG00000165588 . [P32243-1 ]
GeneIDi 5015.
KEGGi hsa:5015.
UCSCi uc001xcp.4. human. [P32243-1 ]

Organism-specific databases

CTDi 5015.
GeneCardsi GC14M057267.
GeneReviewsi OTX2.
HGNCi HGNC:8522. OTX2.
HPAi HPA000633.
MIMi 600037. gene.
610125. phenotype.
613986. phenotype.
neXtProti NX_P32243.
Orphaneti 990. Agnathia - holoprosencephaly - situs inversus.
95494. Combined pituitary hormone deficiencies, genetic forms.
2542. Isolated anophthalmia - microphthalmia.
3157. Septo-optic dysplasia.
178364. Syndromic microphthalmia type 5.
PharmGKBi PA32849.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG245767.
GeneTreei ENSGT00760000118908.
HOGENOMi HOG000082677.
HOVERGENi HBG004028.
InParanoidi P32243.
KOi K18490.
OMAi NRRAKCH.
OrthoDBi EOG74J98P.
PhylomeDBi P32243.
TreeFami TF351179.

Miscellaneous databases

GeneWikii Orthodenticle_homeobox_2.
GenomeRNAii 5015.
NextBioi 19304.
PROi P32243.
SOURCEi Search...

Gene expression databases

Bgeei P32243.
CleanExi HS_OTX2.
ExpressionAtlasi P32243. baseline and differential.
Genevestigatori P32243.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR003022. Otx2_TF.
IPR003025. Otx_TF.
IPR013851. Otx_TF_C.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
PF03529. TF_Otx. 1 hit.
[Graphical view ]
PRINTSi PR01257. OTX2HOMEOBOX.
PR01255. OTXHOMEOBOX.
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo."
    Simeone A., Acampora D., Mallamaci A., Stornaiuolo A., D'Apice M.R., Nigro V., Boncinelli E.
    EMBO J. 12:2735-2747(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  2. Perrault I., Rozet J.-M., Gerber S., Munnich A., Kaplan J.
    Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "Elements regulating the transcription of human interstitial retinoid-binding protein (IRBP) gene in cultured retinoblastoma cells."
    Fong S.L., Fong W.B.
    Curr. Eye Res. 18:283-291(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Retina.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Cerebellum.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Eye.
  7. Kitano T., Kobayakawa H., Saitou N.
    Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 171-283.
  8. Cited for: VARIANTS MCOPS5 GLY-89; THR-133 AND ALA-134.
  9. "Expression of the homeobox genes PAX6, OTX2, and OTX1 in the early human fetal retina."
    Larsen K.B., Lutterodt M., Rath M.F., Moeller M.
    Int. J. Dev. Neurosci. 27:485-492(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: DEVELOPMENTAL STAGE.
  10. "A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency."
    Diaczok D., Romero C., Zunich J., Marshall I., Radovick S.
    J. Clin. Endocrinol. Metab. 93:4351-4359(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CPHD6 SER-225, CHARACTERIZATION OF VARIANT CPHD6 SER-225.
  11. "A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency."
    Ashkenazi-Hoffnung L., Lebenthal Y., Wyatt A.W., Ragge N.K., Dateki S., Fukami M., Ogata T., Phillip M., Gat-Yablonski G.
    Hum. Genet. 127:721-729(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MCOPS5 SER-90, CHARACTERIZATION OF VARIANT MCOPS5 SER-90.

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: October 29, 2014
This is version 149 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

External Data

Dasty 3