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P32243

- OTX2_HUMAN

UniProt

P32243 - OTX2_HUMAN

Protein

Homeobox protein OTX2

Gene

OTX2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 148 (01 Oct 2014)
      Sequence version 1 (01 Oct 1993)
      Previous versions | rss
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    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. protein binding Source: UniProtKB
    3. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB
    4. 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. positive regulation of embryonic development Source: UniProtKB
    12. positive regulation of gastrulation Source: UniProtKB
    13. positive regulation of transcription, DNA-templated Source: UniProtKB
    14. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    15. primitive streak formation Source: UniProtKB
    16. protein complex assembly Source: UniProtKB
    17. regulation of fibroblast growth factor receptor signaling pathway Source: UniProtKB
    18. regulation of smoothened signaling pathway Source: UniProtKB
    19. somite rostral/caudal axis specification Source: Ensembl

    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-SubCell
    4. protein complex Source: UniProtKB

    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

    ArrayExpressiP32243.
    BgeeiP32243.
    CleanExiHS_OTX2.
    GenevestigatoriP32243.

    Organism-specific databases

    HPAiHPA000633.

    Interactioni

    Protein-protein interaction databases

    BioGridi111055. 6 interactions.
    IntActiP32243. 3 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.
    HOGENOMiHOG000082677.
    HOVERGENiHBG004028.
    KOiK09326.
    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

    MMSYLKQPPY AVNGLSLTTS GMDLLHPSVG YPATPRKQRR ERTTFTRAQL    50
    DVLEALFAKT RYPDIFMREE VALKINLPES RVQVWFKNRR AKCRQQQQQQ 100
    QNGGQNKVRP AKKKTSPARE VSSESGTSGQ FTPPSSTSVP TIASSSAPVS 150
    IWSPASISPL SDPLSTSSSC MQRSYPMTYT QASGYSQGYA GSTSYFGGMD 200
    CGSYLTPMHH QLPGPGATLS PMGTNAVTSH LNQSPASLST QGYGASSLGF 250
    NSTTDCLDYK DQTASWKLNF NADCLDYKDQ TSSWKFQVL 289
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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. 3 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.
    HOGENOMi HOG000082677.
    HOVERGENi HBG004028.
    KOi K09326.
    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

    ArrayExpressi P32243.
    Bgeei P32243.
    CleanExi HS_OTX2.
    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

    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 1, 2014
    This is version 148 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