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 name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 6 member 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC6A11
Synonyms (NCBI Gene) Gene synonyms aliases
GAT-3, GAT3, GAT4
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p25.3
Summary Summary 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
Show/Hide all(16)
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 IDs Other 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
607952 11044 ENSG00000132164
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
Tissue specificity TISSUE SPECIFICITY: Widespread distribution in the brain. {ECO:0000269|PubMed:7874447}.
Sequence
Sequence length 632
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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 Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Melanoma melanoma rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340
View all (64 more)		 21499247
Rheumatoid arthritis Rheumatoid Arthritis rs587776843 22491018
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)		 21367462
Show/Hide Text Mining Associations (9)
Associations from Text Mining
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 22543975
Carcinoma Non Small Cell Lung Associate 34518802
Epilepsy Associate 39923323
Epileptic Syndromes Associate 39923323
Mental Disorders Associate 16470700
Neoplasm Metastasis Associate 32881299
Neoplasms Associate 32881299
Obesity Associate 16470700
Seizures Associate 39923323