Gene Report

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Basic Info

Approved Symbol	PITPNM2
Symbol Alias	RDGBA2, RDGB2, NIR3
Approved Name	phosphatidylinositol transfer protein, membrane-associated 2
Location	12q24.31
Position	chr12:122983480-123150015, -1
External Links	HGNC: 21044 Entrez Gene: 57605 Ensembl: ENSG00000090975 UCSC: uc001uej.1
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Shink, E.,2005(a)	Other variant: PITPNM2_GC18E01A	We found no polymorphisms associated with bipolar disorder in this gene.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 7)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005509	calcium ion binding	molecular function	NAS[10022914]	50
GO:0016021	integral component of membrane	cellular component	NAS[10022914]	219

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0008289	lipid binding	molecular function	IEA	8
GO:0008152	metabolic process	biological process	NAS[10022914]	50
GO:0012505	endomembrane system	cellular component	IEA	9
GO:0043231	intracellular membrane-bounded organelle	cellular component	IDA	34
GO:0006810	transport	biological process	IEA	47

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
PITPNM2	CPNE4	NO	in vitro;yeast 2-hybrid	12522145
PITPNM2	CPNE1	NO	in vitro	12522145
PITPNM2	PTK2B	YES	in vitro;in vivo;yeast 2-hybrid	10022914

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
PITPNM2_GC18E01A	point mutation		1 (0/1/0)

Gene related regions (count: 6)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
12q24.3	chr12:120300000-133275309	1 (1/0/0)
Chr 12	chr12:0-133275309	3 (0/3/0)
12q24	chr12:108600000-133275309	4 (1/1/2)
12q23-q24	chr12:95800000-133275309	3 (2/0/1)
12q24.31	chr12:120300000-125400000	1 (1/0/0)
12q	chr12:38200000-133851895	1 (1/0/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr12:122983480..123150015 View in gBrowse