Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	OTX2
Approved Name	orthodenticle homeobox 2
Previous Name	orthodenticle homolog 2 (Drosophila)
Location	14q22.3
Position	chr14:56799905-56810479, -1
External Links	HGNC: 8522 Entrez Gene: 5015 Ensembl: ENSG00000165588 UCSC: uc031qor.1
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Sabunciyan, S., 2007	SNP: rs28757218	The variations in OTX2 might confer risk for the development of bipolar disorder.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 29)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IEA	283
GO:0007411	axon guidance	biological process	IDA[16267555]	60

GO terms by database search (count: 27)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030900	forebrain development	biological process	TAS[15705863]	5
GO:0042706	eye photoreceptor cell fate commitment	biological process	IEA	1
GO:0005515	protein binding	molecular function	IPI[20530484]	563
GO:0005737	cytoplasm	cellular component	IEA	322
GO:0048852	diencephalon morphogenesis	biological process	IEA	1
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IDA[12559959]	91
GO:0040036	regulation of fibroblast growth factor receptor signaling pathway	biological process	TAS[15705863]	3
GO:0009953	dorsal/ventral pattern formation	biological process	IEA	3
GO:0090009	primitive streak formation	biological process	ISS	1
GO:0006461	protein complex assembly	biological process	IDA[20530484]	11
GO:0040019	positive regulation of embryonic development	biological process	ISS	1
GO:0043234	protein complex	cellular component	IDA[20530484]	27
GO:0030901	midbrain development	biological process	TAS[15705863]	6
GO:0046982	protein heterodimerization activity	molecular function	IEA	42
GO:0008589	regulation of smoothened signaling pathway	biological process	TAS[15705863]	7
GO:0042472	inner ear morphogenesis	biological process	IEA	8
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	molecular function	IDA[12559959]	23
GO:0045893	positive regulation of transcription, DNA-templated	biological process	ISS	58
GO:0022037	metencephalon development	biological process	IEA	1
GO:0008190	eukaryotic initiation factor 4E binding	molecular function	TAS[15705863]	1
GO:0030426	growth cone	cellular component	IDA[16267555]	22
GO:0007492	endoderm development	biological process	IEA	1
GO:2000543	positive regulation of gastrulation	biological process	ISS	2
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	molecular function	IDA[12559959]	18
GO:0048664	neuron fate determination	biological process	IEA	1
GO:0001708	cell fate specification	biological process	IEA	1
GO:0032525	somite rostral/caudal axis specification	biological process	IEA	1

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 3)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
OTX2	MITF	NO	in vitro	12663655
OTX2	FOXA2	NO	in vitro	10623575
OTX2	DMBX1	NO	in vitro	15890343

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs28757218	chr14:56805348 - 56805348(1)	intron_variant	1(1/0/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
14q22-24	chr14:50400000-78800000	1 (0/0/1)
Chr 14	chr14:0-107043718	2 (0/2/0)
14q22	chr14:50400000-57600000	1 (0/1/0)
14q12-q22.3	chr14:24100000-57600000	1 (1/0/0)
14q13.1-q24.1	chr14:32900000-69800000	1 (0/1/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
17541950	SNP rs28757218 is unlikely to be involved in the pathology of schizophrenia	Negative

Overlap with SZ from candidate gene intersection analysis (count: 0)

Gene relationship with MDD

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Region: chr14:56799905..56810479 View in gBrowse