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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 Circadian entrainment 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.

No data available for Entrez Gene 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around SLC6A13 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC6A13 Gene

Chromosome:
12
Start:
220,621 bp from pter
End:
264,308 bp from pter
Size:
43,688 bases
Orientation:
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:
    Q9NSD5-S6A13_HUMAN
    Recommended name:
    Sodium- and chloride-dependent GABA transporter 2
    Protein Accession:
    Q9NSD5
    Secondary Accessions:
    • B4DJL1
    • Q8TCC2
    • Q8WW56

    Protein attributes for SLC6A13 Gene

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

    Alternative splice isoforms for SLC6A13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC6A13 Gene

Post-translational modifications for SLC6A13 Gene

  • Glycosylation at Asn 173 and Asn 269
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC6A13 Gene

No data available for DME Specific Peptides for SLC6A13 Gene

Domains & Families for SLC6A13 Gene

Gene Families for SLC6A13 Gene

HGNC:
IUPHAR :

Protein Domains for SLC6A13 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NSD5

UniProtKB/Swiss-Prot:

S6A13_HUMAN :
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A13 subfamily.
Family:
  • 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.

Gene Ontology (GO) - Molecular Function for SLC6A13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005328 neurotransmitter:sodium symporter activity IEA --
GO:0005332 gamma-aminobutyric acid:sodium symporter activity TAS --
GO:0042165 neurotransmitter binding 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

  • Taconic Biosciences Mouse Models for SLC6A13

CRISPR Products

miRNA for SLC6A13 Gene

miRTarBase miRNAs that target SLC6A13

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for SLC6A13 Gene COMPARTMENTS Subcellular localization image for SLC6A13 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 2
cytoskeleton 1
mitochondrion 1

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:0043005 neuron projection IBA --
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

Interacting Proteins for SLC6A13 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000339260%0d%0a9606.ENSP00000244769%0d%0a9606.ENSP00000378965%0d%0a9606.ENSP00000215095%0d%0a9606.ENSP00000222812%0d%0a9606.ENSP00000376178%0d%0a
Selected Interacting proteins: ENSP00000339260 Q9NSD5-S6A13_HUMAN for SLC6A13 Gene via STRING IID

Gene Ontology (GO) - Biological Process for SLC6A13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006836 neurotransmitter transport IBA --
GO:0007268 chemical synaptic transmission IBA --
GO:0015812 gamma-aminobutyric acid transport IBA --
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
NNC 05-2090 hydrochloride Pharma GABA uptake inhibitor; moderately BGT-1 selective 0
NNC 711 Pharma Selective inhibitor of GAT-1 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
SNAP-5114
Inhibition, Inhibitor
sodium
  • Sodium
  • Sodium ion
7440-23-5
Tiagabine hydrochloride
145821-59-6

(5) Tocris Compounds for SLC6A13 Gene

Compound Action Cas Number
(S)-SNAP 5114 GABA uptake inhibitor 157604-55-2
CI 966 hydrochloride Selective inhibitor of GAT-1 110283-66-4
NNC 05-2090 hydrochloride GABA uptake inhibitor; moderately BGT-1 selective 184845-18-9
NNC 711 Selective inhibitor of GAT-1 145645-62-1
Tiagabine hydrochloride GABA uptake inhibitor; anticonvulsant 145821-59-6
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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: - - -
SP8:
SP9: -
SP10:
SP11:

ExUns: 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17a · 17b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for SLC6A13 Gene

GeneLoc Exon Structure for
SLC6A13
ECgene alternative splicing isoforms for
SLC6A13

Expression for SLC6A13 Gene

mRNA expression in normal human tissues 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:

SLC6A13

SOURCE GeneReport for Unigene cluster for SLC6A13 Gene:

Hs.504398

mRNA Expression by UniProt/SwissProt for SLC6A13 Gene:

Q9NSD5-S6A13_HUMAN
Tissue specificity: Expressed in brain, kidney, lung, liver and testis.
genes like me logo Genes that share expression patterns with SLC6A13: view

Primer Products

No data available for Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia SLC6A13 34
  • 89.79 (n)
  • 92.35 (a)
SLC6A13 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC6A13 34
  • 91.53 (n)
  • 93.02 (a)
SLC6A13 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc6a13 34
  • 88.04 (n)
  • 91.03 (a)
Slc6a13 16
Slc6a13 35
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC6A13 34
  • 99.61 (n)
  • 99.67 (a)
SLC6A13 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc6a13 34
  • 87.82 (n)
  • 91.53 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC6A13 35
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC6A13 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100858230 34
  • 80.09 (n)
  • 85.69 (a)
SLC6A13 35
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC6A13 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc6a13 34
  • 74.22 (n)
  • 80.2 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68654 34
zebrafish
(Danio rerio)
Actinopterygii LOC100332592 34
  • 71.66 (n)
  • 75.85 (a)
SLC6A13 35
  • 74 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7421 34
fruit fly
(Drosophila melanogaster)
Insecta CG10804 36
  • 35 (a)
CG1698 36
  • 36 (a)
CG1732 36
  • 51 (a)
CG4476 36
  • 36 (a)
CG5549 36
  • 41 (a)
CG8850 36
  • 36 (a)
ine 36
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea snf-1 36
  • 23 (a)
snf-11 36
  • 48 (a)
snf-12 36
  • 31 (a)
snf-2 36
  • 31 (a)
snf-3 36
  • 41 (a)
snf-4 36
  • 33 (a)
snf-5 36
  • 28 (a)
snf-6 36
  • 30 (a)
snf-9 36
  • 30 (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

ENSEMBL:
Gene Tree for SLC6A13 (if available)
TreeFam:
Gene Tree for SLC6A13 (if available)

Paralogs for SLC6A13 Gene

Pseudogenes.org 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
rs577294 - 224,027(+) GGAGA(C/T)GACAG reference, missense
rs1641509 -- 247,230(+) caaca(A/T)acacc intron-variant
rs7303797 -- 233,745(+) TGAGA(A/G)ATATT intron-variant
rs7303844 -- 244,567(+) tgcct(A/G)taatc intron-variant, upstream-variant-2KB
rs7311055 -- 243,173(+) cctgg(C/T)taatt 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)

Relevant External Links for SLC6A13 Gene

Human Gene Mutation Database (HGMD)
SLC6A13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC6A13

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: 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)
SLC6A13
Human Genome Epidemiology (HuGE) Navigator
SLC6A13
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC6A13
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. … Braeuner-Osborne H. (J. Biol. Chem. 2007) 3 4 22 65
  2. Sequence and chromosomal assignment of a human novel cDNA: similarity to gamma-aminobutyric acid transporter. (PMID: 11824941) Gong Y. … Minuk G.Y. (Can. J. Physiol. Pharmacol. 2001) 3 4 22 65
  3. High selectivity of the gamma-aminobutyric acid transporter 2 (GAT-2, SLC6A13) revealed by structure-based approach. (PMID: 22932902) Schlessinger A. … Sali A. (J. Biol. Chem. 2012) 3 4 65
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  5. New loci associated with kidney function and chronic kidney disease. (PMID: 20383146) KAPttgen A. … Fox C.S. (Nat. Genet. 2010) 3 46 65

Products for SLC6A13 Gene

Sources for SLC6A13 Gene

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