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Aliases for SLC6A13 Gene

Aliases for SLC6A13 Gene

  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 13 2 3
  • Solute Carrier Family 6 (Neurotransmitter Transporter, GABA), Member 13 2 3
  • GABA Transporter 2 2 3
  • GAT-2 3 4
  • GAT2 3 4
  • Solute Carrier Family 6 Member 13 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 (Neurotransmitter Transporter), Member 13) is a Protein Coding gene. Diseases associated with SLC6A13 include neovascular glaucoma and globe disease. 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. 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 SLC6A4.

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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for SLC6A13 Gene at MOPED

Post-translational modifications for SLC6A13 Gene

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

Other Protein References for SLC6A13 Gene

Antibody Products

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 IBA --
genes like me logo Genes that share ontologies with SLC6A13: view

Phenotypes for SLC6A13 Gene

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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC6A13

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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 4
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:0016021 integral component of membrane --
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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for SLC6A13 Gene

Gene Ontology (GO) - Biological Process for SLC6A13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006836 neurotransmitter transport IBA --
GO:0007268 synaptic transmission TAS --
GO:0007269 neurotransmitter secretion TAS --
GO:0015812 gamma-aminobutyric acid transport IBA --
GO:0055085 transmembrane transport TAS --
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

(1) Drugs for SLC6A13 Gene - From: DrugBank

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

(8) Additional Compounds for SLC6A13 Gene - From: IUPHAR, HMDB, Tocris, and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
SNAP-5114
Inhibition, Inhibitor
sodium
  • Sodium
  • Sodium ion
7440-23-5
(+-)-Nipecotic acid
60252-41-7
(S)-SNAP 5114
157604-55-2
CI 966 hydrochloride
110283-66-4
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC6A13

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 and MOPED for SLC6A13 Gene



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

In Situ Assay 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 35
  • 89.79 (n)
  • 92.35 (a)
SLC6A13 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC6A13 35
  • 91.53 (n)
  • 93.02 (a)
SLC6A13 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc6a13 35
  • 88.04 (n)
  • 91.03 (a)
Slc6a13 16
Slc6a13 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC6A13 35
  • 99.61 (n)
  • 99.67 (a)
SLC6A13 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc6a13 35
  • 87.82 (n)
  • 91.53 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC6A13 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC6A13 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100858230 35
  • 80.09 (n)
  • 85.69 (a)
SLC6A13 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC6A13 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc6a13 35
  • 74.22 (n)
  • 80.2 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68654 35
zebrafish
(Danio rerio)
Actinopterygii LOC100332592 35
  • 71.66 (n)
  • 75.85 (a)
SLC6A13 36
  • 74 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7421 35
fruit fly
(Drosophila melanogaster)
Insecta CG10804 37
  • 35 (a)
CG1698 37
  • 36 (a)
CG1732 37
  • 51 (a)
CG4476 37
  • 36 (a)
CG5549 37
  • 41 (a)
CG8850 37
  • 36 (a)
ine 37
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea snf-1 37
  • 23 (a)
snf-11 37
  • 48 (a)
snf-12 37
  • 31 (a)
snf-2 37
  • 31 (a)
snf-3 37
  • 41 (a)
snf-4 37
  • 33 (a)
snf-5 37
  • 28 (a)
snf-6 37
  • 30 (a)
snf-9 37
  • 30 (a)
Species with no ortholog for SLC6A13:
  • 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

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 MAF
rs124440 -- 223,496(+) TTAGG(C/G)ACTGG intron-variant
rs476646 -- 227,968(-) GCTTC(A/G)TTCTA intron-variant
rs482628 -- 247,445(+) tgaag(C/T)aataa intron-variant
rs485514 -- 231,742(+) CTCAT(C/T)AATGC intron-variant
rs487252 -- 247,938(+) aatca(C/G)taaaa intron-variant

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

Variant ID Type Subtype PubMed ID
nsv428269 CNV Gain+Loss 18775914
nsv832302 CNV Gain 17160897
nsv898557 CNV Gain 21882294
nsv898560 CNV Loss 21882294
nsv468947 CNV Gain 19166990
nsv898561 CNV Gain 21882294
nsv523142 CNV Gain 19592680
nsv470253 CNV Gain 18288195
esv1006737 CNV Gain 20482838
nsv898563 CNV Gain 21882294
dgv451e1 CNV Complex 17122850
dgv452e1 CNV Complex 17122850
nsv570 CNV Loss 18451855
esv2252314 CNV Deletion 18987734
nsv898564 CNV Loss 21882294
esv34939 CNV Loss 17911159

Variation tolerance for SLC6A13 Gene

Residual Variation Intolerance Score: 39.62% 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

HapMap Linkage Disequilibrium report
SLC6A13
Human Gene Mutation Database (HGMD)
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
neovascular glaucoma
  • secondary angle-closure glaucoma with rubeosis
globe disease
endophthalmitis
glaucoma 1, open angle, e
  • primary open angle glaucoma
- elite association

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) 23 67
  2. GABA transporters in the mammalian cerebral cortex: localization, development and pathological implications. (PMID: 15210304) Conti F. … Melone M. (Brain Res. Brain Res. Rev. 2004) 23 67
  3. 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) 23 67
  4. Glial transporters for glutamate, glycine, and GABA: II. GABA transporters. (PMID: 11241581) Gadea A. … LA^pez-ColomAc A.M. (J. Neurosci. Res. 2001) 23 67
  5. Immunoreactivity for multiple GABA transporters (GAT-1, GAT-2, GAT-3) in the gerbil pineal gland. (PMID: 10353341) Redecker P. (Neurosci. Lett. 1999) 23 67

Products for SLC6A13 Gene

Sources for SLC6A13 Gene

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