Protein: P32243 | MoonDB v2.0

UniprotKB AC	UniprotKB ID	Gene name	Full name	Species	Curated set
P32243 (Uniprot)	OTX2_HUMAN	OTX2	Homeobox protein OTX2	human	No

Protein Function

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

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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

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MoonDB Network Modules

Biological Processes

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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

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Cellular Components

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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

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Protein GO Annotations

Biological Processes

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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

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Cellular Components

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GO ID (CC)	GO Name	Evidence Code (GO EC)
GO:0005634	nucleus	IDA
GO:0030426	growth cone	IDA
GO:0043234	protein complex	IDA

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Dissimilar Cellular Components (PrOnto)

No pairs of PrOnto dissimilar CC GO terms found.

All Protein Interactions

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Interactor	Also a MoonDB EMF protein
3BHS7_HUMAN	No
ASIC4_HUMAN	No
ATX1_HUMAN	Yes: P54253 (MoonDB)
AURKC_HUMAN	No
B4GN2_HUMAN	No
BNIP2_HUMAN	No
CDK3_HUMAN	No
CDK4_HUMAN	No
FA156_HUMAN	No
FA46B_HUMAN	No

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Publications Associated

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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.

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OMIM Diseases Associated

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OMIM ID	Disease Name
610125	Microphthalmia, syndromic, 5
610125	Retinal dystrophy, early-onset, with or without pituitary dysfunction
613986	Pituitary hormone deficiency, combined, 6

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Protein Domains Associated

Showing 1 to 10 of 15 entries

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Domain Name	Domain ID	Source
Homeobox	PF00046	Pfam
Homeobox-like_sf	IPR009057	InterPro
HOMEOBOX_1	PS00027	PROSITE
HOMEOBOX_2	PS50071	PROSITE
Homeobox_CS	IPR017970	InterPro
Homeobox_dom	IPR001356	InterPro
homeodomain	cd00086	CDD
HOX	SM00389	SMART
Otx2_TF	IPR003022	InterPro
OTX2HOMEOBOX	PR01257	PRINTS

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