OTX2
entrez
5015
canonical
uniprot
P32243
canonical
ensembl
ENSG00000165588
resolver
ensp
ENSP00000343819
resolver
ensp
ENSP00000386185
resolver
ensp
ENSP00000450468
resolver
ensp
ENSP00000451357
resolver
ensp
ENSP00000452336
resolver
ensp
ENSP00000474486
resolver
ensp
ENSP00000500115
resolver
enst
ENST00000554559
resolver
enst
ENST00000554788
resolver
genesymbol
OTX2
resolver
hgnc
HGNC:8522
resolver
uniprot
B2RAN5
resolver
uniprot
F1T0C9
resolver
uniprot
F1T0D0
resolver
uniprot
F1T0D1
resolver
uniprot
G3V252
resolver
uniprot
Q6GTV3
resolver
uniprot
Q9HAW3
resolver
uniprot
Q9P2R1
resolver
uniprot_entry
F1T0C9_HUMAN
resolver
uniprot_entry
F1T0D0_HUMAN
resolver
uniprot_entry
F1T0D1_HUMAN
resolver
uniprot_entry
G3V252_HUMAN
resolver
uniprot_entry
OTX2_HUMAN
resolver
uniprot_sec
B2RAN5
resolver
uniprot_sec
Q6GTV3
resolver
uniprot_sec
Q9HAW3
resolver
uniprot_sec
Q9P2R1
resolver
amino_acid_sequence
MMSYLKQPPYAVNGLSLTTSGMDLLHPSVGYPATPRKQRRERTTFTRAQLDVLEALFAKTRYPDIFMREEVALKINLPESRVQVWFKNRRAKCRQQQQQQQNGGQNKVRPAKKKTSPAREVSSESGTSGQFTPPSSTSVPTIASSSAPVSIWSPASISPLSDPLSTSSSCMQRSYPMTYTQASGYSQGYAGSTSYFGGMDCGSYLTPMHHQLPGPGATLSPMGTNAVTSHLNQSPASLSTQGYGASSLGFNSTTDCLDYKDQTASWKLNFNADCLDYKDQTSSWKFQVL
uniprot
proteins
disease_involvement
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. {ECO:0000269|PubMed:15846561, ECO:0000269|PubMed:20396904, ECO:0000269|PubMed:22577225, ECO:0000269|PubMed:24167467}. Note=The disease is caused by variants 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. {ECO:0000269|PubMed:18728160, ECO:0000269|PubMed:22715480}. Note=The disease is caused by variants 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 pituitary dysfunction. {ECO:0000269|PubMed:19956411, ECO:0000269|PubMed:25293953}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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'. {ECO:0000269|PubMed:22715480}.
uniprot
proteins
mass_dalton
31636
uniprot
proteins
protein_family
Bicoid subfamily
uniprot
proteins
protein_family
Paired homeobox family
uniprot
proteins
pubmed
10372988
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15846561
uniprot
proteins
pubmed
18728160
uniprot
proteins
pubmed
19414065
uniprot
proteins
pubmed
19956411
uniprot
proteins
pubmed
20396904
uniprot
proteins
pubmed
22577225
uniprot
proteins
pubmed
22715480
uniprot
proteins
pubmed
24167467
uniprot
proteins
pubmed
25293953
uniprot
proteins
pubmed
8101484
uniprot
proteins
sequence_length
289
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19414065}.
uniprot
proteins