Gene Report

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Basic Info

Approved Symbol	SLC6A2
Previous Symbol	NET1, NAT1, SLC6A5
Symbol Alias	NET
Approved Name	solute carrier family 6 (neurotransmitter transporter), member 2
Previous Name	solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2
Name Alias	norepinephrine transporter
Location	16q12.2
Position	chr16:55655604-55706192, 1
External Links	HGNC: 11048 Entrez Gene: 6530 Ensembl: ENSG00000103546 UCSC: uc021tio.1
No. of Studies	2 (Positive: 0; Negative: 2; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Stober, G.,1996	Other variant: SLC6A2_Val69Ile, SLC6A2_Thr99Ile, SLC6A2_Val245Ile, SLC6A2_Val449Ile, SLC6A2_Gly478Ser	The results indicated that presence of these variants is not causally related to major psychiatric diseases.	Negative	Comment on Study
Hadley, D.,1995	Other variant: SLC6A2_TaqI polymorphism	No evidence of linkage between manic-depression and the NET gene was found	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 19)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0016020	membrane	cellular component	TAS[2008212]	137
GO:0007268	synaptic transmission	biological process	TAS[2008212]	116
GO:0005887	integral component of plasma membrane	cellular component	IEA	158

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0045121	membrane raft	cellular component	IEA	22
GO:0015874	norepinephrine transport	biological process	IEA	1
GO:0006810	transport	biological process	TAS[2008212]	47
GO:0043005	neuron projection	cellular component	IEA	38
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0048265	response to pain	biological process	IEA	8
GO:0005334	norepinephrine:sodium symporter activity	molecular function	TAS[2008212]	1
GO:0008504	monoamine transmembrane transporter activity	molecular function	IDA[16024787]	5
GO:0043014	alpha-tubulin binding	molecular function	IEA	4
GO:0005515	protein binding	molecular function	IPI[11343649]	563
GO:0006836	neurotransmitter transport	biological process	IEA	5
GO:0048487	beta-tubulin binding	molecular function	IEA	4
GO:0015844	monoamine transport	biological process	IDA[16024787]	6
GO:0009986	cell surface	cellular component	IEA	40
GO:0042493	response to drug	biological process	IEA	57

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
SLC6A2	STX1A	NO	in vivo	12629174
SLC6A2	PPP2R1A	NO	in vivo	15963952

Related other genetic factors

Gene related SNPs (count: 8)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2242446	chr16:55656513 - 55656513(1)	5_prime_UTR_variant; intron_variant; upstream_gene_variant	1(0/1/0)
rs5569	chr16:55697923 - 55697923(1)	downstream_gene_variant; synonymous_variant; upstream_gene_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs17307291	chr16:55664598 - 55664598(1)	intron_variant
rs747107	chr16:55661809 - 55661809(1)	intron_variant
rs17247999	chr16:55666515 - 55666515(1)	intron_variant
rs12924088	chr16:55697252 - 55697252(1)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs11076111	chr16:55660639 - 55660639(1)	intron_variant
rs3785157	chr16:55695924 - 55695924(1)	downstream_gene_variant; intron_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 6)

Variant Name	Variant Type	No. of Studies (Positive/Negative/Trend)
SLC6A2_Gly478Ser	point mutation	1 (0/1/0)
SLC6A2_Thr99Ile	point mutation	1 (0/1/0)
SLC6A2_TaqI polymorphism	SNP	1 (0/1/0)
SLC6A2_Val449Ile	point mutation	1 (0/1/0)
SLC6A2_Val245Ile	point mutation	1 (0/1/0)
SLC6A2_Val69Ile	point mutation	1 (0/1/0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 16	chr16:0-90338345	5 (1/3/1)
16q12.2-23.1	chr16:52600000-79200000	1 (0/0/1)

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

Gene relationship with SZ

Reference	Description	Result Category
8950409	The results indicated that presence of these variants is not causally related to major psychiatric diseases.	Negative

Gene relationship with MDD

Reference	Description	Category in MDD	Link in MK4MDD
18081710	MPT analyses show significant associations of the norepinephrine transporter (NET, SLC6A2) -182 T/C (rs2242446) with recurrent depression [odds ratio, OR = 4.15 (1.91-9.02)]	Pos	SLC6A2
20351714	significantly more SNPs (19 out of 100; P = 0.039)than expected were associated while accounting for the linkage disequilibrium (LD) structure.	Pos	SLC6A2

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Region: chr16:55655604..55706192 View in gBrowse