ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	SLC6A1
Symbol Alias	GAT1, GABATR, GABATHG
Approved Name	solute carrier family 6 (neurotransmitter transporter, GABA), member 1
Location	3p25-p24
Position	chr3:11034410-11080935, +
External Links	HGNC: 11042 Entrez Gene: 6529 Ensembl: ENSG00000157103 UCSC: uc010hdq.2
No. of Studies	1 (significant: 0; non-significant: 1; trend: 0)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Brookes K, 2006	UNPHASED TDT P-value=0.0934, global P-value=0.916, WHAP TDT P_sum P-value=0.477, no SNP with nominal P-value<0.05 located in this gene	Non-significant

Gene related SNPs (count: 9)

Literature-origin SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs1728818	Chr3:11032992(Fwd)	upstream_gene_variant	1(0/1/0)
rs2601126	Chr3:11036624(Fwd)	intron_variant; nc_transcript_variant	1(1/0/0)

LD-proxies (count: 7)

rs_ID	Location	Functional Annotation
rs2675156	Chr3:11033828(Fwd)	upstream_gene_variant
rs1710873	Chr3:11032829(Fwd)	upstream_gene_variant
rs2697149	Chr3:11036480(Fwd)	intron_variant; nc_transcript_variant
rs2697150	Chr3:11036150(Fwd)	intron_variant; nc_transcript_variant
rs1710898	Chr3:11037760(Fwd)	intron_variant; nc_transcript_variant
rs2697148	Chr3:11036580(Fwd)	intron_variant; nc_transcript_variant
rs1728816	Chr3:11037778(Fwd)	intron_variant; nc_transcript_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 24)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 24)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0032355	response to estradiol stimulus	Biological Process		18
GO:0032229	negative regulation of synaptic transmission, GABAergic	Biological Process		3
GO:0051260	protein homooligomerization	Biological Process		34
GO:0042220	response to cocaine	Biological Process		11
GO:0016020	membrane	Cellular Component	TAS[2387399]	139
GO:0014074	response to purine-containing compound	Biological Process		2
GO:0030424	axon	Cellular Component		35
GO:0016021	integral to membrane	Cellular Component	TAS[8530094]	845
GO:0051939	gamma-aminobutyric acid import	Biological Process		1
GO:0051592	response to calcium ion	Biological Process		9
GO:0055085	transmembrane transport	Biological Process		82
GO:0005887	integral to plasma membrane	Cellular Component		220
GO:0006810	transport	Biological Process	NAS[8530094]	62
GO:0005332	gamma-aminobutyric acid:sodium symporter activity	Molecular Function		1
GO:0005886	plasma membrane	Cellular Component		772
GO:0005328	neurotransmitter:sodium symporter activity	Molecular Function		1
GO:0010288	response to lead ion	Biological Process		1
GO:0014054	positive regulation of gamma-aminobutyric acid secretion	Biological Process		3
GO:0009744	response to sucrose stimulus	Biological Process		2
GO:0009986	cell surface	Cellular Component		70
GO:0007612	learning	Biological Process		13
GO:0009636	response to toxin	Biological Process		15
GO:0007268	synaptic transmission	Biological Process		96
GO:0007269	neurotransmitter secretion	Biological Process		18

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with SLC6A1 (count: 26)

Gene Symbol	Pathway Count	Pathway List
SLC6A3	8	response to cocaine; axon; integral to membrane; transmembrane transport; integral to plasma membrane; transport; plasma membrane; synaptic transmission;
SLC18A2	7	response to cocaine; membrane; transmembrane transport; integral to plasma membrane; plasma membrane; synaptic transmission; neurotransmitter secretion;
HTR6	6	response to estradiol stimulus; integral to plasma membrane; plasma membrane; positive regulation of gamma-aminobutyric acid secretion; learning; synaptic transmission;
SLC1A3	6	membrane; integral to membrane; transmembrane transport; plasma membrane; cell surface; synaptic transmission;
SLC6A2	6	membrane; transmembrane transport; integral to plasma membrane; transport; plasma membrane; synaptic transmission;
HTR3A	6	integral to membrane; transmembrane transport; integral to plasma membrane; transport; plasma membrane; synaptic transmission;
NRXN1	6	integral to membrane; integral to plasma membrane; plasma membrane; cell surface; learning; neurotransmitter secretion;
GRIN2B	6	integral to plasma membrane; transport; plasma membrane; cell surface; learning; synaptic transmission;
GHR	5	response to estradiol stimulus; integral to membrane; integral to plasma membrane; plasma membrane; cell surface;
SLC34A2	5	response to estradiol stimulus; integral to membrane; transmembrane transport; integral to plasma membrane; plasma membrane;
SLC6A4	5	response to estradiol stimulus; protein homooligomerization; integral to plasma membrane; plasma membrane; response to toxin;
HTR1B	5	negative regulation of synaptic transmission, GABAergic; response to cocaine; integral to plasma membrane; plasma membrane; synaptic transmission;
AQP4	5	protein homooligomerization; transmembrane transport; integral to plasma membrane; transport; plasma membrane;
SYT1	5	protein homooligomerization; integral to membrane; plasma membrane; synaptic transmission; neurotransmitter secretion;
DRD2	5	response to cocaine; axon; integral to plasma membrane; plasma membrane; response to toxin;
ABCC1	5	membrane; transmembrane transport; integral to plasma membrane; transport; plasma membrane;
ACHE	5	membrane; axon; plasma membrane; cell surface; synaptic transmission;
ADCY4	5	membrane; integral to membrane; transmembrane transport; plasma membrane; synaptic transmission;
SLC4A3	5	membrane; transmembrane transport; integral to plasma membrane; transport; plasma membrane;
GRM7	5	axon; integral to membrane; integral to plasma membrane; plasma membrane; synaptic transmission;
SLC5A7	5	integral to membrane; transmembrane transport; plasma membrane; synaptic transmission; neurotransmitter secretion;
GABRA5	5	transmembrane transport; integral to plasma membrane; transport; plasma membrane; synaptic transmission;
GABRB3	5	transmembrane transport; integral to plasma membrane; transport; plasma membrane; synaptic transmission;
HTR3B	5	transmembrane transport; integral to plasma membrane; transport; plasma membrane; synaptic transmission;
GRIK1	5	integral to plasma membrane; transport; plasma membrane; positive regulation of gamma-aminobutyric acid secretion; synaptic transmission;
GRIN2A	5	integral to plasma membrane; transport; plasma membrane; cell surface; synaptic transmission;

Genes shared at least 2 KEGG pathways with SLC6A1 (count: 0)

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Region: chr3:11034410..11080935 View in gBrowse