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Aliases for SLC6A11 Gene

Aliases for SLC6A11 Gene

  • Solute Carrier Family 6 Member 11 2 3 4 5
  • Solute Carrier Family 6 (Neurotransmitter Transporter, GABA), Member 11 2 3
  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 11 2 3
  • GABA Transporter 3 2 3
  • GAT-3 3 4
  • GAT3 3 4
  • Sodium- And Chloride-Dependent GABA Transporter 3 3
  • GABT3 4
  • GAT4 3

External Ids for SLC6A11 Gene

Previous GeneCards Identifiers for SLC6A11 Gene

  • GC03P010787
  • GC03P010832
  • GC03P010792

Summaries for SLC6A11 Gene

Entrez Gene Summary for SLC6A11 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 intellectual problems. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

GeneCards Summary for SLC6A11 Gene

SLC6A11 (Solute Carrier Family 6 Member 11) is a Protein Coding gene. Diseases associated with SLC6A11 include Tricuspid Valve Stenosis and Pulmonary Valve Insufficiency. Among its related pathways are Benzodiazepine Pathway, Pharmacodynamics and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include neurotransmitter:sodium symporter activity and gamma-aminobutyric acid:sodium symporter activity. An important paralog of this gene is SLC6A13.

UniProtKB/Swiss-Prot for SLC6A11 Gene

  • Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals.

Tocris Summary for SLC6A11 Gene

  • GABA transporters are sodium- and chloride-dependent members of the solute carrier family 6 (SLC6) that mediate the rapid removal of GABA and maintain low extracellular levels. Four 12-TM domain transporters have been identified and localized to neurons and glia.

Additional gene information for SLC6A11 Gene

No data available for CIViC summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC6A11 Gene

Genomics for SLC6A11 Gene

GeneHancer (GH) Regulatory Elements for SLC6A11 Gene

Promoters and enhancers for SLC6A11 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J010815 Promoter/Enhancer 1.1 EPDnew Ensembl 650.7 +0.2 163 1.1 BRD4 DRAP1 RNF2 MAX DMAP1 ZBTB8A ZNF48 POLR2A MXD3 ZBTB26 SLC6A11 LOC105376950
GH03J010955 Enhancer 0.6 ENCODE dbSUPER 10.3 +140.2 140208 2.5 ZNF184 ZFP36 ZIC2 SLC6A1 SLC6A1-AS1 SLC6A11 LOC105376950
GH03J011154 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 2.1 +338.9 338881 2 RAD21 ZNF335 GLIS2 EGR1 ZNF143 RCOR1 DEK EGR2 SP3 ZNF654 HRH1 LOC105376951 ATG7 SLC6A1 SLC6A11 VGLL4 LOC102723663
GH03J010925 Enhancer 0.4 dbSUPER 5.7 +111.0 111001 4 BCOR ZMYM3 LOC105376950 SLC6A11
GH03J010994 Enhancer 0.4 FANTOM5 dbSUPER 3.8 +178.3 178318 0.2 SLC6A1 ATP2B2 SLC6A11 SLC6A1-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC6A11 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC6A11 gene promoter:
  • Lmo2
  • Meis-1b
  • Meis-1a
  • Meis-1
  • HNF-4alpha1
  • C/EBPalpha
  • Ik-1
  • PPAR-gamma1
  • PPAR-gamma2
  • Pax-2a

Genomic Locations for SLC6A11 Gene

Genomic Locations for SLC6A11 Gene
125,272 bases
Plus strand
124,535 bases
Plus strand

Genomic View for SLC6A11 Gene

Genes around SLC6A11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC6A11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC6A11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC6A11 Gene

Proteins for SLC6A11 Gene

  • Protein details for SLC6A11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Sodium- and chloride-dependent GABA transporter 3
    Protein Accession:
    Secondary Accessions:
    • B2R6U6
    • Q8IYC9

    Protein attributes for SLC6A11 Gene

    632 amino acids
    Molecular mass:
    70606 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC6A11 Gene


neXtProt entry for SLC6A11 Gene

Post-translational modifications for SLC6A11 Gene

  • Glycosylation at posLast=198198, posLast=190190, and isoforms=2187
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC6A11 Gene

No data available for DME Specific Peptides for SLC6A11 Gene

Domains & Families for SLC6A11 Gene

Gene Families for SLC6A11 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for SLC6A11 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A11 subfamily.
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A11 subfamily.
genes like me logo Genes that share domains with SLC6A11: view

Function for SLC6A11 Gene

Molecular function for SLC6A11 Gene

UniProtKB/Swiss-Prot Function:
Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals.

Phenotypes From GWAS Catalog for SLC6A11 Gene

Gene Ontology (GO) - Molecular Function for SLC6A11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IBA --
GO:0005328 neurotransmitter:sodium symporter activity IEA --
GO:0005332 gamma-aminobutyric acid:sodium symporter activity TAS --
GO:0015293 symporter activity IEA --
GO:0042165 neurotransmitter binding IEA --
genes like me logo Genes that share ontologies with SLC6A11: view
genes like me logo Genes that share phenotypes with SLC6A11: view

Animal Models for SLC6A11 Gene

MGI Knock Outs for SLC6A11:

Animal Model Products

miRNA for SLC6A11 Gene

miRTarBase miRNAs that target SLC6A11

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC6A11 Gene

Localization for SLC6A11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC6A11 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC6A11 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytosol 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SLC6A11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS 1400419
genes like me logo Genes that share ontologies with SLC6A11: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC6A11 Gene

Pathways & Interactions for SLC6A11 Gene

genes like me logo Genes that share pathways with SLC6A11: view

Pathways by source for SLC6A11 Gene

1 PharmGKB pathway for SLC6A11 Gene
1 KEGG pathway for SLC6A11 Gene

Interacting Proteins for SLC6A11 Gene

Gene Ontology (GO) - Biological Process for SLC6A11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006836 neurotransmitter transport IEA --
GO:0007420 brain development IEA --
GO:0015812 gamma-aminobutyric acid transport IEA --
GO:0042493 response to drug IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC6A11: view

No data available for SIGNOR curated interactions for SLC6A11 Gene

Drugs & Compounds for SLC6A11 Gene

(8) Drugs for SLC6A11 Gene - From: DrugBank, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Clobazam Approved, Illicit Pharma Transporter, other 22
Guvacine Experimental Pharma Target, inhibitor 0
(S)-SNAP 5114 Pharma GABA uptake inhibitor 0
CI 966 hydrochloride Pharma Selective inhibitor of GAT-1 0
Guvacine hydrochloride Pharma Specific GABA uptake inhibitor 0

(4) Additional Compounds for SLC6A11 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Na(+)
  • Na+
  • SODIUM ion
(+-)-Nipecotic acid

(5) Tocris Compounds for SLC6A11 Gene

Compound Action Cas Number
(+-)-Nipecotic acid GABA uptake inhibitor 60252-41-7
(S)-SNAP 5114 GABA uptake inhibitor 157604-55-2
CI 966 hydrochloride Selective inhibitor of GAT-1 110283-66-4
Guvacine hydrochloride Specific GABA uptake inhibitor 6027-91-4
SKF 89976A hydrochloride Potent GABA uptake inhibitor. Penetrates blood brain barrier 85375-15-1
genes like me logo Genes that share compounds with SLC6A11: view

Transcripts for SLC6A11 Gene

mRNA/cDNA for SLC6A11 Gene

Unigene Clusters for SLC6A11 Gene

Solute carrier family 6 (neurotransmitter transporter, GABA), member 11:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A11 Gene

No ASD Table

Relevant External Links for SLC6A11 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SLC6A11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC6A11 Gene

mRNA differential expression in normal tissues according to GTEx for SLC6A11 Gene

This gene is overexpressed in Brain - Substantia nigra (x8.3), Brain - Hypothalamus (x7.4), and Brain - Nucleus accumbens (basal ganglia) (x5.7).

Protein differential expression in normal tissues from HIPED for SLC6A11 Gene

This gene is overexpressed in Fetal Brain (32.1), Frontal cortex (11.2), and Retina (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC6A11 Gene

Protein tissue co-expression partners for SLC6A11 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC6A11 Gene:


SOURCE GeneReport for Unigene cluster for SLC6A11 Gene:


mRNA Expression by UniProt/SwissProt for SLC6A11 Gene:

Tissue specificity: Widespread distribution in the brain.

Evidence on tissue expression from TISSUES for SLC6A11 Gene

  • Nervous system(4.5)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with SLC6A11: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC6A11 Gene

Orthologs for SLC6A11 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC6A11 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SLC6A11 34 33
  • 99.31 (n)
(Canis familiaris)
Mammalia SLC6A11 34 33
  • 91.27 (n)
(Monodelphis domestica)
Mammalia SLC6A11 34
  • 91 (a)
(Bos Taurus)
Mammalia SLC6A11 34 33
  • 90.21 (n)
(Rattus norvegicus)
Mammalia Slc6a11 33
  • 87.29 (n)
(Mus musculus)
Mammalia Slc6a11 16 34 33
  • 86.76 (n)
(Gallus gallus)
Aves SLC6A11 34 33
  • 76.02 (n)
(Anolis carolinensis)
Reptilia SLC6A11 34
  • 89 (a)
(Danio rerio)
Actinopterygii SLC6A11 34
  • 82 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1732 35
  • 52 (a)
ine 35
  • 41 (a)
CG5549 35
  • 40 (a)
CG10804 35
  • 38 (a)
CG8850 35
  • 37 (a)
BG:DS03431.1 35
  • 36 (a)
CG1698 35
  • 36 (a)
CG7075 35
  • 35 (a)
CG4476 35
  • 35 (a)
(Caenorhabditis elegans)
Secernentea snf-11 35
  • 48 (a)
snf-3 35
  • 39 (a)
snf-2 35
  • 32 (a)
snf-9 35
  • 31 (a)
snf-6 35
  • 30 (a)
snf-5 35
  • 28 (a)
snf-8 35
  • 23 (a)
Species where no ortholog for SLC6A11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SLC6A11 Gene

Gene Tree for SLC6A11 (if available)
Gene Tree for SLC6A11 (if available)
Evolutionary constrained regions (ECRs) for SLC6A11: view image

Paralogs for SLC6A11 Gene

(19) SIMAP similar genes for SLC6A11 Gene using alignment to 2 proteins:

  • S6A11_HUMAN
genes like me logo Genes that share paralogs with SLC6A11: view

Variants for SLC6A11 Gene

Sequence variations from dbSNP and Humsavar for SLC6A11 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000027304 -- 10,939,785(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000049530 -- 10,816,643(+) G/GG intron_variant
rs1000076021 -- 10,894,032(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000076839 -- 10,932,948(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000084600 -- 10,939,745(+) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC6A11 Gene

Variant ID Type Subtype PubMed ID
dgv762e201 CNV deletion 23290073
esv2657761 CNV deletion 23128226
esv3595282 CNV loss 21293372
esv3595283 CNV loss 21293372
esv3595284 CNV loss 21293372
esv4117 OTHER complex 18987735
nsv1003810 CNV gain 25217958
nsv1073204 CNV deletion 25765185
nsv1118962 CNV deletion 24896259
nsv1121603 CNV deletion 24896259
nsv3696 CNV insertion 18451855
nsv436362 CNV deletion 17901297
nsv436869 CNV insertion 17901297
nsv476634 CNV novel sequence insertion 20440878
nsv522643 CNV loss 19592680
nsv998764 CNV gain 25217958

Variation tolerance for SLC6A11 Gene

Residual Variation Intolerance Score: 15.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.92; 48.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC6A11 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A11 Gene

Disorders for SLC6A11 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SLC6A11 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
tricuspid valve stenosis
  • tricuspid stenosis
pulmonary valve insufficiency
  • pulmonary incompetence
pulmonary valve disease
  • pulmonary valve disorder
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC6A11

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC6A11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC6A11 Gene

Publications for SLC6A11 Gene

  1. Cloning of the human homologue of the GABA transporter GAT-3 and identification of a novel inhibitor with selectivity for this site. (PMID: 7874447) Borden LA … Weinshank RL (Receptors & channels 1994) 2 3 4 58
  2. Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. (PMID: 22491018) Wang J … Platt A (The pharmacogenomics journal 2013) 3 44 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PMID: 20424473) Yokoyama K … Hosoya T (Nephron. Clinical practice 2010) 3 44 58
  5. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) Gratacòs M … Psychiatric Genetics Network Group (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 44 58

Products for SLC6A11 Gene

Sources for SLC6A11 Gene

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