Gene Report

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Basic Info

Approved Symbol	SLC9A3
Previous Symbol	NHE3
Approved Name	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3
Previous Name	solute carrier family 9 (sodium/hydrogen exchanger), isoform 3, "solute carrier family 9 (sodium/hydrogen exchanger), member 3"
Location	5p15.3
Position	chr5:473310-524332, -1
External Links	HGNC: 11073 Entrez Gene: 6550 Ensembl: ENSG00000066230 UCSC: uc003jbe.2
No. of Studies	1 (Positive: 1; Negative: 0; 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
Noor A., 2014		Selected stringent CNV related to this gene is validated by qPCR from BD case data.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 15)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006811	ion transport	biological process	TAS	18
GO:0030165	PDZ domain binding	molecular function	ISS	16
GO:0016021	integral component of membrane	cellular component	IEA	219
GO:0005886	plasma membrane	cellular component	IDA; ISS; TAS	360

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006885	regulation of pH	biological process	IEA	1
GO:1902600	hydrogen ion transmembrane transport	biological process	IEA	4
GO:0035725	sodium ion transmembrane transport	biological process	IEA; ISS	8
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0005515	protein binding	molecular function	IPI[16159897]	563
GO:0031526	brush border membrane	cellular component	ISS	5
GO:0005903	brush border	cellular component	ISS	2
GO:0009986	cell surface	cellular component	ISS	40
GO:0016324	apical plasma membrane	cellular component	IEA	24
GO:0015385	sodium:proton antiporter activity	molecular function	ISS	1
GO:0070062	extracellular vesicular exosome	cellular component	IDA[16501490]	176

Gene related KEGG pathways (count: 0)

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
SLC9A3	SHANK2	YES	in vitro;in vivo;yeast 2-hybrid	16293618
SLC9A3	MAST2	NO	in vitro;in vivo	16159897
SLC9A3	PDZK1	NO	in vitro;yeast 2-hybrid	14531806
SLC9A3	SLC9A3R1	NO	in vitro;yeast 2-hybrid	14580213
SLC9A3	LRP2	NO	in vitro;in vivo	10364184
SLC9A3	SLC9A3R2	NO	in vitro;in vivo;yeast 2-hybrid	9748260

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Abdul Noor[2014]_7	chr5:409381-706343 (NCBI Build 36/hg18)	297000	5p15.33	duplication

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 5	chr5:0-181538259	3 (0/2/1)
5p15.33	chr5:0-4400000	1 (0/0/1)
5pter-p15.1	chr5:0-18400000	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr5:473310..524332 View in gBrowse