Protein: P32243

UniprotKB AC UniprotKB ID Gene name Full name Species Curated set
P32243 (Uniprot) OTX2_HUMAN OTX2 Homeobox protein OTX2 human No
Uniprot: 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'.
MoonDB Dissimilar Functions
GO ID 1 Function 1 Module ID 1 GO ID 2 Function 2 Module ID 2 Association Probability (PrOnto) Interaction Probability (PrOnto)
GO:0036211 protein modification process 330 GO:0006396 RNA processing 426 5.60e-03 3.14e-16
Biological Processes
Module ID (MoonGO) GO ID (BP) GO Name
64 GO:0016070 RNA metabolic process
64 GO:0010467 gene expression
64 GO:0060255 regulation of macromolecule metabolic process
70 GO:0051252 regulation of RNA metabolic process
70 GO:0010468 regulation of gene expression
70 GO:0006351 transcription, DNA-templated
218 GO:0060255 regulation of macromolecule metabolic process
330 GO:0006464 cellular protein modification process
330 GO:0006796 phosphate-containing compound metabolic process
330 GO:0031325 positive regulation of cellular metabolic process
330 GO:0010604 positive regulation of macromolecule metabolic process
330 GO:0051173 positive regulation of nitrogen compound metabolic process
330 GO:2000112 regulation of cellular macromolecule biosynthetic process
330 GO:0010468 regulation of gene expression
330 GO:0019219 regulation of nucleobase-containing compound metabolic process
330 GO:0051246 regulation of protein metabolic process
330 GO:0007165 signal transduction
330 GO:0006351 transcription, DNA-templated
426 GO:0008380 RNA splicing
426 GO:0006397 mRNA processing
426 GO:0051252 regulation of RNA metabolic process
426 GO:2000112 regulation of cellular macromolecule biosynthetic process
426 GO:0010468 regulation of gene expression
426 GO:0006351 transcription, DNA-templated
492 GO:0044271 cellular nitrogen compound biosynthetic process
492 GO:0051252 regulation of RNA metabolic process
492 GO:2000112 regulation of cellular macromolecule biosynthetic process
492 GO:0010468 regulation of gene expression
643 GO:0044267 cellular protein metabolic process
725 GO:0051252 regulation of RNA metabolic process
725 GO:0010468 regulation of gene expression
836 GO:0007165 signal transduction
Cellular Components
Module ID (MoonGO) GO ID (CC) GO Name
64 GO:0005634 nucleus
70 GO:0005654 nucleoplasm
218 GO:0005634 nucleus
330 GO:0005829 cytosol
330 GO:0005654 nucleoplasm
332 GO:0005634 nucleus
426 GO:0005654 nucleoplasm
492 GO:0044428 nuclear part
642 GO:0005634 nucleus
643 GO:0005634 nucleus
678 GO:0043232 intracellular non-membrane-bounded organelle
725 GO:0005829 cytosol
725 GO:0031981 nuclear lumen
836 GO:0005634 nucleus
GO ID (BP) GO Name Evidence Code (GO EC)
GO:0006366 transcription from RNA polymerase II promoter IEA
GO:0006461 protein complex assembly IDA
GO:0007411 axon guidance IDA
GO:0008589 regulation of smoothened signaling pathway TAS
GO:0030900 forebrain development TAS
GO:0030901 midbrain development TAS
GO:0040019 positive regulation of embryonic development ISS
GO:0040036 regulation of fibroblast growth factor receptor signaling pathway TAS
GO:0045893 positive regulation of transcription, DNA-templated ISS
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IDA
GO:0071542 dopaminergic neuron differentiation TAS
GO:0090009 primitive streak formation ISS
GO:2000543 positive regulation of gastrulation ISS
GO ID (CC) GO Name Evidence Code (GO EC)
GO:0005634 nucleus IDA
GO:0030426 growth cone IDA
GO:0043234 protein complex IDA
No pairs of PrOnto dissimilar CC GO terms found.
PMID Article Title
8101484 A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo.
10372988 Elements regulating the transcription of human interstitial retinoid-binding protein (IRBP) gene in cultured retinoblastoma cells.
14702039 Complete sequencing and characterization of 21,243 full-length human cDNAs.
15489334 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15846561 Heterozygous mutations of OTX2 cause severe ocular malformations.
18728160 A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.
19414065 Expression of the homeobox genes PAX6, OTX2, and OTX1 in the early human fetal retina.
19956411 A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.
20396904 A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency.
22577225 OTX2 mutations contribute to the otocephaly-dysgnathia complex.
22715480 A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve.
24167467 Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2.
25293953 OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.
OMIM ID Disease Name
610125 Microphthalmia, syndromic, 5
610125 Retinal dystrophy, early-onset, with or without pituitary dysfunction
613986 Pituitary hormone deficiency, combined, 6
Domain Name Domain ID Source
Homeobox_dom IPR001356 InterPro
Otx2_TF IPR003022 InterPro
Otx_TF IPR003025 InterPro
Homeobox-like_sf IPR009057 InterPro
Otx_TF_C IPR013851 InterPro
Homeobox_CS IPR017970 InterPro
Homeobox PF00046 Pfam
TF_Otx PF03529 Pfam
OTXHOMEOBOX PR01255 PRINTS
OTX2HOMEOBOX PR01257 PRINTS
HOMEOBOX_1 PS00027 PROSITE
HOMEOBOX_2 PS50071 PROSITE
HOX SM00389 SMART
SSF46689 SSF46689 SUPFAM
homeodomain cd00086 CDD