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SLC6A11 (solute carrier family 6 member 11)
Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6538
Gene nameGene Name - the full gene name approved by the HGNC.
Solute carrier family 6 member 11
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SLC6A11
SynonymsGene synonyms aliases
GAT-3, GAT3, GAT4
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p25.3
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in this gene may result in epilepsy, behavioral problems, or int
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005332 Function Gamma-aminobutyric acid:sodium symporter activity IBA 21873635
GO:0005737 Component Cytoplasm IEA
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane IBA 21873635
GO:0007420 Process Brain development IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P48066
Protein name Sodium- and chloride-dependent GABA transporter 3 (GAT-3) (Solute carrier family 6 member 11)
Protein function Mediates sodium- and chloride-dependent transport of gamma-aminobutyric acid (GABA) (PubMed:7874447). Can also mediate transport of beta-alanine and to a lower extent that of taurine and hypotaurine (By similarity). {ECO:0000250|UniProtKB:P31650
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00209 SNF
50 → 576
Sodium:neurotransmitter symporter family
 Family
Sequence
Sequence length 632
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Synaptic vesicle cycle
GABAergic synapse 		  Na+/Cl- dependent neurotransmitter transporters
Creatine metabolism
Reuptake of GABA
Associated diseases
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Melanoma melanoma rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050 21499247
Rheumatoid arthritis Rheumatoid Arthritis rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212 22491018
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 21367462

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