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
  • Sodium- And Chloride-Dependent GABA Transporter 2 3 4
  • GABA Transporter 2 2 3
  • GAT-2 3 4
  • GAT2 3 4
  • 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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 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 SLC6A12.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for SLC6A13 Gene

Genomics for SLC6A13 Gene

GeneHancer (GH) Regulatory Elements for SLC6A13 Gene

Promoters and enhancers for SLC6A13 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
GH12J000262 Promoter/Enhancer 0.8 EPDnew Ensembl 750.6 +1.0 1007 1.4 L3MBTL2 POLR2A MGA ZFHX2 VEZF1 SLC6A13 CCDC77 KDM5A LOC102723544
GH12J000263 Enhancer 0.5 Ensembl 750.6 +0.0 7 0.2 TEAD4 TRIM24 EP300 SOX6 CTBP1 IKZF1 TAL1 CBFA2T3 SLC6A13 SLC6A12 LOC101929384 ENSG00000255671 LOC102723544
GH12J000406 Enhancer 1.4 VISTA Ensembl ENCODE 10.7 -143.4 -143438 3.5 SMARCE1 ZNF362 L3MBTL2 DACH1 TEAD4 ZNF280D MAFK CBFA2T2 BACH1 SP7 CCDC77 RAD52 B4GALNT3 LOC102723544 SLC6A13 piR-35674-088 piR-32214-097
GH12J000143 Enhancer 1 Ensembl ENCODE dbSUPER 11.1 +119.8 119807 3.8 RAD21 ELF3 SP1 MAFK TFE3 SP5 ZNF644 KAT8 KMT2B ZNF316 IQSEC3 ENSG00000255671 LOC101929384 SLC6A12 SLC6A13 LOC102723544 LOC574538 piR-41525-097
GH12J000152 Enhancer 1 ENCODE dbSUPER 11 +111.5 111531 1.3 CTCF RBPJ MIXL1 RAD21 SP7 GLIS2 ZIC2 REST TRIM22 RXRB ENSG00000255671 LOC101929384 SLC6A12 SLC6A13 LOC574538 LOC102723544 IQSEC3 ENSG00000256694
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC6A13 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC6A13 gene promoter:
  • C/EBPbeta
  • GATA-6
  • NF-kappaB1
  • p53
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • STAT1
  • STAT3

Genomic Locations for SLC6A13 Gene

Genomic Locations for SLC6A13 Gene
43,688 bases
Minus strand
42,251 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

Suggested Antigen Peptide Sequences for SLC6A13 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59549, highly similar to Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13, mRNA (B4DJL1_HUMAN)
  • Transporter (F5H6S9_HUMAN)
  • Solute carrier family 6 member 13 (S6A13_HUMAN)

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 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.
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};

Phenotypes From GWAS Catalog for SLC6A13 Gene

Gene Ontology (GO) - Molecular Function for SLC6A13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005332 gamma-aminobutyric acid:sodium symporter activity IBA 21873635
GO:0015293 symporter activity IEA --
GO:0042165 neurotransmitter binding IBA 21873635
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

  • Taconic Biosciences Mouse Models for SLC6A13

CRISPR Products

miRNA for SLC6A13 Gene

miRTarBase miRNAs that target SLC6A13

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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 4
extracellular 2
cytosol 2
cytoskeleton 1
mitochondrion 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Cytosol (1)
  • Nucleoli (1)
  • Nucleus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC6A13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS,IBA --
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043005 neuron projection IBA 21873635
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

Gene Ontology (GO) - Biological Process for SLC6A13 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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
SKF 89976A hydrochloride Pharma Potent GABA uptake inhibitor. Penetrates blood brain barrier 0

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

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

(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

mRNA/cDNA for SLC6A13 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC6A13

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 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 32
  • 99.61 (n)
(Canis familiaris)
Mammalia SLC6A13 33 32
  • 91.53 (n)
(Bos Taurus)
Mammalia SLC6A13 33 32
  • 89.79 (n)
(Monodelphis domestica)
Mammalia SLC6A13 33
  • 89 (a)
(Mus musculus)
Mammalia Slc6a13 17 33 32
  • 88.04 (n)
(Rattus norvegicus)
Mammalia Slc6a13 32
  • 87.82 (n)
(Ornithorhynchus anatinus)
Mammalia SLC6A13 33
  • 73 (a)
(Gallus gallus)
Aves SLC6A13 33
  • 85 (a)
LOC100858230 32
  • 80.09 (n)
(Anolis carolinensis)
Reptilia SLC6A13 33
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia slc6a13 32
  • 74.22 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68654 32
(Danio rerio)
Actinopterygii SLC6A13 33
  • 74 (a)
LOC100332592 32
  • 71.66 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7421 32
fruit fly
(Drosophila melanogaster)
Insecta CG1732 34
  • 51 (a)
ine 34
  • 41 (a)
CG5549 34
  • 41 (a)
CG4476 34
  • 36 (a)
CG8850 34
  • 36 (a)
CG1698 34
  • 36 (a)
CG10804 34
  • 35 (a)
(Caenorhabditis elegans)
Secernentea snf-11 34
  • 48 (a)
snf-3 34
  • 41 (a)
snf-4 34
  • 33 (a)
snf-2 34
  • 31 (a)
snf-12 34
  • 31 (a)
snf-6 34
  • 30 (a)
snf-9 34
  • 30 (a)
snf-5 34
  • 28 (a)
snf-1 34
  • 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)
Evolutionary constrained regions (ECRs) for SLC6A13: view image

Paralogs for SLC6A13 Gene

(20) SIMAP similar genes for SLC6A13 Gene using alignment to 4 proteins:

  • S6A13_HUMAN
  • F5H5D9_HUMAN
  • F5H6S9_HUMAN 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 Variation AA Info Type
rs1236167026 uncertain-significance, not provided 235,092(-) G/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs139777154 uncertain-significance, not provided 222,623(-) C/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1000067491 -- 234,450(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000139930 -- 247,355(-) A/G genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000424385 -- 244,497(-) T/C genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant

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

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

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)

Additional Variant Information 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
glaucoma, primary open angle
  • poag
hypertension, essential
  • eht
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC6A13

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 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 23 56
  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 23 56
  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 56
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 43 56
  5. 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 43 56

Products for SLC6A13 Gene

Sources for SLC6A13 Gene