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P32243 Proteins with novel repeats
Uniprot ID:P32243
Gene name: OTX2
Protein Family:"Paired homeobox family, Bicoid subfamily"
Protein name: Homeobox protein OTX2
Length : 289
Sequnce
>P32243 290 MMSYLKQPPYAVNGLSLTTSGMDLLHPSVGYPATPRKQRRERTTFTRAQLDVLEALFAKTRYPDIFMREEVALKINLPESRVQVWFKNRRAKCRQQQQQQQNGGQNKVRPAKKKTSPAREVSSESGTSGQFTPPSSTSVPTIASSSAPVSIWSPASISPLSDPLSTSSSCMQRSYPMTYTQASGYSQGYAGSTSYFGGMDCGSYLTPMHHQLPGPGATLSPMGTNAVTSHLNQSPASLSTQGYGASSLGFNSTTDCLDYKDQTASWKLNFNADCLDYKDQTSSWKFQVL
Repeated Sequence regions
Length: 18 residues : 2 times from 245 to 281 :0.85 region Length:37 AS-SLGFNSTTDCLDYKDQT ASWKLNFNA--DCLDYKDQT
Function
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'
Disease
"DISEASE: 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 Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: 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 Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Retinal dystrophy, early-onset, with or without pituitary dysfunction (RDEOP) [MIM:610125]: An 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 Note=The disease is caused by mutations affecting the gene represented in this entry"