Gene Report

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Basic Info

Approved Symbol	PLXNA2
Previous Symbol	PLXN2
Symbol Alias	OCT, FLJ11751, FLJ30634, KIAA0463
Approved Name	plexin A2
Name Alias	plexin 2, "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"
Location	1q32.2
Position	chr1:208022242-208244320, -1
External Links	HGNC: 9100 Entrez Gene: 5362 Ensembl: ENSG00000076356 UCSC: uc001hgz.3
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
Hattori, E.,2009	SNP: rs6540451	After the two-stage analysis, markers in this gene remained nominally significant (allelic P<0.05) with the same allele being consistently over-represented in both the first and the follow-up stages.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 15)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007411	axon guidance	biological process	TAS	60
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0005887	integral component of plasma membrane	cellular component	ISS	158

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0060174	limb bud formation	biological process	IEA	2
GO:0001756	somitogenesis	biological process	IEA	3
GO:0030334	regulation of cell migration	biological process	ISS	9
GO:0017154	semaphorin receptor activity	molecular function	ISS	1
GO:0021935	cerebellar granule cell precursor tangential migration	biological process	IEA	1
GO:0005622	intracellular	cellular component	IEA	17
GO:0060037	pharyngeal system development	biological process	IEA	1
GO:0051642	centrosome localization	biological process	IEA	2
GO:0071526	semaphorin-plexin signaling pathway	biological process	ISS	2
GO:0005515	protein binding	molecular function	IPI[12372285]	563
GO:0002116	semaphorin receptor complex	cellular component	TAS[19909241]	1
GO:0021915	neural tube development	biological process	IEA	3

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04360	Axon guidance	16

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 6)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
PLXNA2	UBAP2L	NO	yeast 2-hybrid	12421765
PLXNA2	KIAA1199	NO	yeast 2-hybrid	12421765
PLXNA2	IFT80	NO	yeast 2-hybrid	12421765
PLXNA2	FNBP4	NO	yeast 2-hybrid	12421765
PLXNA2	DHX37	NO	yeast 2-hybrid	12421765
PLXNA2	HACE1	NO	yeast 2-hybrid	12421765

Related other genetic factors

Gene related SNPs (count: 11)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs6540451	chr1:208052012 - 208052012(1)	intron_variant	1(1/0/0)

rs_ID	Location	Functional Annotation
rs12136725	chr1:208043487 - 208043487(1)	intron_variant; upstream_gene_variant
rs7514550	chr1:208048303 - 208048303(1)	intron_variant
rs6659522	chr1:208025755 - 208025755(1)	3_prime_UTR_variant; downstream_gene_variant
rs556625	chr1:208022636 - 208022636(1)	3_prime_UTR_variant; downstream_gene_variant
rs6662281	chr1:208066988 - 208066988(1)	intron_variant
rs11118980	chr1:208065562 - 208065562(1)	intron_variant
rs752525	chr1:208063881 - 208063881(1)	intron_variant
rs7552683	chr1:208058343 - 208058343(1)	intron_variant
rs753264	chr1:208056031 - 208056031(1)	intron_variant
rs2078332	chr1:208054011 - 208054011(1)	intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
1q31-q32	chr1:185800000-214400000	1 (0/1/0)
Chr 1	chr1:0-248956422	2 (0/2/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr1:208022242..208244320 View in gBrowse