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Aliases for SLC6A13 Gene

Aliases for SLC6A13 Gene

  • Solute Carrier Family 6 Member 13 2 3 4 5
  • Solute Carrier Family 6 (Neurotransmitter Transporter, GABA), Member 13 2 3
  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 13 2 3
  • GABA Transporter 2 2 3
  • GAT-2 3 4
  • GAT2 3 4
  • Sodium- And Chloride-Dependent GABA Transporter 2 3
  • GABA Transport Protein 3
  • GAT3 3

External Ids for SLC6A13 Gene

Previous GeneCards Identifiers for SLC6A13 Gene

  • GC12M000184
  • GC12M000329

Summaries for SLC6A13 Gene

GeneCards Summary for SLC6A13 Gene

SLC6A13 (Solute Carrier Family 6 Member 13) is a Protein Coding gene. Diseases associated with SLC6A13 include Traumatic Glaucoma and Neovascular Glaucoma. Among its related pathways are GABAergic synapse and Neurotransmitter Release Cycle. 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 SLC6A12.

UniProtKB/Swiss-Prot for SLC6A13 Gene

  • Sodium-dependent GABA and taurine transporter. In presynaptic terminals, regulates GABA signaling termination through GABA uptake. May also be involved in beta-alanine transport.

Tocris Summary for SLC6A13 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 SLC6A13 Gene

No data available for Entrez Gene Summary , CIViC summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC6A13 Gene

Genomics for SLC6A13 Gene

Regulatory Elements for SLC6A13 Gene

Enhancers for SLC6A13 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H000406 1.8 VISTA Ensembl ENCODE 10.7 -143.5 -143521 3.3 ATF1 ARNT GLI4 BRCA1 ZNF2 TCF12 ZNF766 GATA2 ATF7 FOS CCDC77 RAD52 B4GALNT3 SLC6A13 LOC102723544 LOC105369594 PIR37877
GH12H000152 1.1 ENCODE dbSUPER 11 +111.5 111532 1.3 RB1 ARID4B RAD21 GLIS2 ZNF366 ZNF143 ATF7 MIXL1 THAP11 ZNF654 ENSG00000255671 LOC101929384 SLC6A12 SLC6A13 LOC574538 LOC102723544 IQSEC3 ENSG00000256694
GH12H000144 1 ENCODE dbSUPER 11.1 +119.6 119552 3 ELF3 SAP130 MAX ZNF644 RAD21 TEAD3 ZNF316 MAFK ZNF3 TFE3 IQSEC3 ENSG00000255671 LOC101929384 SLC6A12 SLC6A13 LOC102723544 LOC574538 LOC105379613
GH12H000532 0.7 ENCODE dbSUPER 10.4 -268.7 -268673 1.9 ZSCAN5C ZNF169 B4GALNT3 SLC6A13 SLC6A12 LOC100049716 GC12M000504 PIR41391
GH12H000236 0.8 ENCODE 9 +26.9 26901 1.3 ELF3 DRAP1 ZNF792 SAP130 TAF1 MAX CEBPG RAD21 RARA YY1 SLC6A13 CCDC77 GC12P000235 GC12M000239
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC6A13 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SLC6A13 Gene

Genomic Locations for SLC6A13 Gene
43,688 bases
Minus strand

Genomic View for SLC6A13 Gene

Genes around SLC6A13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC6A13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC6A13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC6A13 Gene

Proteins for SLC6A13 Gene

  • Protein details for SLC6A13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Sodium- and chloride-dependent GABA transporter 2
    Protein Accession:
    Secondary Accessions:
    • B4DJL1
    • Q8TCC2
    • Q8WW56

    Protein attributes for SLC6A13 Gene

    602 amino acids
    Molecular mass:
    68009 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAF64247.1; Type=Frameshift; Positions=542; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC6A13 Gene


neXtProt entry for SLC6A13 Gene

Post-translational modifications for SLC6A13 Gene

  • Glycosylation at Asn173 and Asn269
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC6A13 Gene

Domains & Families for SLC6A13 Gene

Gene Families for SLC6A13 Gene

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

Protein Domains for SLC6A13 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A13 subfamily.
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A13 subfamily.
genes like me logo Genes that share domains with SLC6A13: view

Function for SLC6A13 Gene

Molecular function for SLC6A13 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=3.7 uM for GABA {ECO:0000269 PubMed:17502375}; KM=20.2 uM for beta-alanine {ECO:0000269 PubMed:17502375};
UniProtKB/Swiss-Prot Function:
Sodium-dependent GABA and taurine transporter. In presynaptic terminals, regulates GABA signaling termination through GABA uptake. May also be involved in beta-alanine transport.

Phenotypes From GWAS Catalog for SLC6A13 Gene

Gene Ontology (GO) - Molecular Function for SLC6A13 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 --
genes like me logo Genes that share ontologies with SLC6A13: view
genes like me logo Genes that share phenotypes with SLC6A13: view

Animal Models for SLC6A13 Gene

MGI Knock Outs for SLC6A13:

Animal Model Products

miRNA for SLC6A13 Gene

miRTarBase miRNAs that target SLC6A13

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC6A13 Gene

Localization for SLC6A13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC6A13 Gene

Cell 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 SLC6A13 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 2
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC6A13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with SLC6A13: view

Pathways & Interactions for SLC6A13 Gene

genes like me logo Genes that share pathways with SLC6A13: view

Pathways by source for SLC6A13 Gene

1 PharmGKB pathway for SLC6A13 Gene
1 KEGG pathway for SLC6A13 Gene

Gene Ontology (GO) - Biological Process for SLC6A13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IBA --
GO:0006836 neurotransmitter transport IEA --
GO:0015812 gamma-aminobutyric acid transport IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC6A13: view

No data available for SIGNOR curated interactions for SLC6A13 Gene

Drugs & Compounds for SLC6A13 Gene

(5) Drugs for SLC6A13 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guvacine Experimental Pharma Target, inhibitor 0

(4) Additional Compounds for SLC6A13 Gene - From: HMDB, IUPHAR, and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Inhibition, Inhibitor
  • Sodium
  • Sodium ion

(5) Tocris Compounds for SLC6A13 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 SLC6A13: view

Transcripts for SLC6A13 Gene

Unigene Clusters for SLC6A13 Gene

Solute carrier family 6 (neurotransmitter transporter, GABA), member 13:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A13 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a ·
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - -
SP4: - - - -
SP5: - - - - - - - -
SP6: - - - - - -
SP7: - - -
SP9: -

ExUns: 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17a · 17b

Relevant External Links for SLC6A13 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SLC6A13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC6A13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC6A13 Gene

This gene is overexpressed in Kidney - Cortex (x24.0) and Liver (x6.8).

Protein differential expression in normal tissues from HIPED for SLC6A13 Gene

This gene is overexpressed in Cerebrospinal fluid (53.6) and Spinal cord (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC6A13 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC6A13 Gene:


SOURCE GeneReport for Unigene cluster for SLC6A13 Gene:


mRNA Expression by UniProt/SwissProt for SLC6A13 Gene:

Tissue specificity: Expressed in brain, kidney, lung, liver and testis.

Evidence on tissue expression from TISSUES for SLC6A13 Gene

  • Kidney(4.8)
  • Nervous system(4.8)
  • Liver(4.4)
  • Blood(2.1)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with SLC6A13: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC6A13 Gene

Orthologs for SLC6A13 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC6A13 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SLC6A13 33 34
  • 99.61 (n)
(Canis familiaris)
Mammalia SLC6A13 33 34
  • 91.53 (n)
(Bos Taurus)
Mammalia SLC6A13 33 34
  • 89.79 (n)
(Monodelphis domestica)
Mammalia SLC6A13 34
  • 89 (a)
(Mus musculus)
Mammalia Slc6a13 33 16 34
  • 88.04 (n)
(Rattus norvegicus)
Mammalia Slc6a13 33
  • 87.82 (n)
(Ornithorhynchus anatinus)
Mammalia SLC6A13 34
  • 73 (a)
(Gallus gallus)
Aves SLC6A13 34
  • 85 (a)
LOC100858230 33
  • 80.09 (n)
(Anolis carolinensis)
Reptilia SLC6A13 34
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia slc6a13 33
  • 74.22 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68654 33
(Danio rerio)
Actinopterygii SLC6A13 34
  • 74 (a)
LOC100332592 33
  • 71.66 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7421 33
fruit fly
(Drosophila melanogaster)
Insecta CG1732 35
  • 51 (a)
CG5549 35
  • 41 (a)
ine 35
  • 41 (a)
CG1698 35
  • 36 (a)
CG4476 35
  • 36 (a)
CG8850 35
  • 36 (a)
CG10804 35
  • 35 (a)
(Caenorhabditis elegans)
Secernentea snf-11 35
  • 48 (a)
snf-3 35
  • 41 (a)
snf-4 35
  • 33 (a)
snf-12 35
  • 31 (a)
snf-2 35
  • 31 (a)
snf-6 35
  • 30 (a)
snf-9 35
  • 30 (a)
snf-5 35
  • 28 (a)
snf-1 35
  • 23 (a)
Species where no ortholog for SLC6A13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for SLC6A13 Gene

Gene Tree for SLC6A13 (if available)
Gene Tree for SLC6A13 (if available)

Paralogs for SLC6A13 Gene Pseudogenes for SLC6A13 Gene

genes like me logo Genes that share paralogs with SLC6A13: view

Variants for SLC6A13 Gene

Sequence variations from dbSNP and Humsavar for SLC6A13 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000067491 -- 234,450(+) GCCTA(C/T)GGAGT intron-variant
rs1000139930 -- 247,355(+) CACAT(A/G)TGTAC intron-variant
rs1000424385 -- 244,497(+) CAGCC(C/T)GGGCA intron-variant, upstream-variant-2KB
rs1000484777 -- 222,845(+) GCAGT(C/T)ACTTC intron-variant
rs1000747709 -- 221,923(+) TATCT(A/G)GCACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC6A13 Gene

Variant ID Type Subtype PubMed ID
nsv832302 CNV gain 17160897
nsv570 CNV deletion 18451855
nsv556861 CNV loss 21841781
nsv556857 CNV gain 21841781
nsv556855 CNV loss 21841781
nsv523142 CNV gain 19592680
nsv470253 CNV gain 18288195
nsv468947 CNV gain 19166990
nsv428269 CNV gain+loss 18775914
nsv1147796 CNV deletion 26484159
nsv1144602 CNV deletion 24896259
nsv1141222 CNV deletion 24896259
nsv1121482 CNV deletion 24896259
nsv1050912 CNV gain 25217958
nsv1050781 CNV loss 25217958
nsv1035539 CNV gain 25217958
esv3628229 CNV loss 21293372
esv3628228 CNV loss 21293372
esv3628226 CNV gain 21293372
esv3628221 CNV gain 21293372
esv3580006 CNV loss 25503493
esv34939 CNV loss 17911159
esv2759875 CNV gain+loss 17122850
esv2252314 CNV deletion 18987734
dgv1330n100 CNV gain 25217958

Variation tolerance for SLC6A13 Gene

Residual Variation Intolerance Score: 39.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.19; 61.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC6A13 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 SLC6A13 Gene

Disorders for SLC6A13 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SLC6A13 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
traumatic glaucoma
  • glaucoma associated with ocular trauma
neovascular glaucoma
  • secondary angle-closure glaucoma with rubeosis
globe disease
glaucoma 1, open angle, e
  • primary open angle glaucoma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC6A13

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SLC6A13: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC6A13 Gene

Publications for SLC6A13 Gene

  1. Cloning and characterization of a functional human gamma-aminobutyric acid (GABA) transporter, human GAT-2. (PMID: 17502375) Christiansen B … Braüner-Osborne H (The Journal of biological chemistry 2007) 3 4 22 60
  2. Sequence and chromosomal assignment of a human novel cDNA: similarity to gamma-aminobutyric acid transporter. (PMID: 11824941) Gong Y … Minuk GY (Canadian journal of physiology and pharmacology 2001) 3 4 22 60
  3. High selectivity of the γ-aminobutyric acid transporter 2 (GAT-2, SLC6A13) revealed by structure-based approach. (PMID: 22932902) Schlessinger A … Sali A (The Journal of biological chemistry 2012) 3 4 60
  4. 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 45 60
  5. New loci associated with kidney function and chronic kidney disease. (PMID: 20383146) Köttgen A … Fox CS (Nature genetics 2010) 3 45 60

Products for SLC6A13 Gene

Sources for SLC6A13 Gene

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