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SLC6A13 (solute carrier family 6 member 13)

Identity

Alias_namessolute carrier family 6 (neurotransmitter transporter, GABA), member 13
solute carrier family 6 (neurotransmitter transporter), member 13
Alias_symbol (synonym)GAT2
Other aliasGAT-2
GAT3
HGNC (Hugo) SLC6A13
LocusID (NCBI) 6540
Atlas_Id 55450
Location 12p13.33  [Link to chromosome band 12p13]
Location_base_pair Starts at 329787 and ends at 372039 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SLC6A13   11046
Cards
Entrez_Gene (NCBI)SLC6A13  6540  solute carrier family 6 member 13
AliasesGAT-2; GAT2; GAT3
GeneCards (Weizmann)SLC6A13
Ensembl hg19 (Hinxton)ENSG00000010379 [Gene_View]  chr12:329787-372039 [Contig_View]  SLC6A13 [Vega]
Ensembl hg38 (Hinxton)ENSG00000010379 [Gene_View]  chr12:329787-372039 [Contig_View]  SLC6A13 [Vega]
ICGC DataPortalENSG00000010379
TCGA cBioPortalSLC6A13
AceView (NCBI)SLC6A13
Genatlas (Paris)SLC6A13
WikiGenes6540
SOURCE (Princeton)SLC6A13
Genetics Home Reference (NIH)SLC6A13
Genomic and cartography
GoldenPath hg19 (UCSC)SLC6A13  -     chr12:329787-372039 -  12p13.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SLC6A13  -     12p13.33   [Description]    (hg38-Dec_2013)
EnsemblSLC6A13 - 12p13.33 [CytoView hg19]  SLC6A13 - 12p13.33 [CytoView hg38]
Mapping of homologs : NCBISLC6A13 [Mapview hg19]  SLC6A13 [Mapview hg38]
OMIM615097   
Gene and transcription
Genbank (Entrez)AF462445 AI802118 AK295904 AK296127 AK296209
RefSeq transcript (Entrez)NM_001190997 NM_001243392 NM_016615
RefSeq genomic (Entrez)NC_000012 NC_018923 NT_009759 NW_004929382
Consensus coding sequences : CCDS (NCBI)SLC6A13
Cluster EST : UnigeneHs.733878 [ NCBI ]
CGAP (NCI)Hs.733878
Alternative Splicing GalleryENSG00000010379
Gene ExpressionSLC6A13 [ NCBI-GEO ]   SLC6A13 [ EBI - ARRAY_EXPRESS ]   SLC6A13 [ SEEK ]   SLC6A13 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC6A13 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6540
GTEX Portal (Tissue expression)SLC6A13
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NSD5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NSD5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NSD5
Splice isoforms : SwissVarQ9NSD5
PhosPhoSitePlusQ9NSD5
Domaine pattern : Prosite (Expaxy)NA_NEUROTRAN_SYMP_1 (PS00610)    NA_NEUROTRAN_SYMP_2 (PS00754)    NA_NEUROTRAN_SYMP_3 (PS50267)   
Domains : Interpro (EBI)Na/ntran_symport    Na/ntran_symport_GABA_GAT2   
Domain families : Pfam (Sanger)SNF (PF00209)   
Domain families : Pfam (NCBI)pfam00209   
Conserved Domain (NCBI)SLC6A13
DMDM Disease mutations6540
Blocks (Seattle)SLC6A13
SuperfamilyQ9NSD5
Human Protein AtlasENSG00000010379
Peptide AtlasQ9NSD5
HPRD10239
IPIIPI00009914   IPI01011143   IPI00797000   IPI01013169   IPI00383031   IPI01014288   
Protein Interaction databases
DIP (DOE-UCLA)Q9NSD5
IntAct (EBI)Q9NSD5
FunCoupENSG00000010379
BioGRIDSLC6A13
STRING (EMBL)SLC6A13
ZODIACSLC6A13
Ontologies - Pathways
QuickGOQ9NSD5
Ontology : AmiGOneurotransmitter:sodium symporter activity  gamma-aminobutyric acid:sodium symporter activity  gamma-aminobutyric acid:sodium symporter activity  plasma membrane  integral component of plasma membrane  neurotransmitter transport  synaptic transmission  gamma-aminobutyric acid transport  neurotransmitter binding  neuron projection  transmembrane transport  extracellular exosome  
Ontology : EGO-EBIneurotransmitter:sodium symporter activity  gamma-aminobutyric acid:sodium symporter activity  gamma-aminobutyric acid:sodium symporter activity  plasma membrane  integral component of plasma membrane  neurotransmitter transport  synaptic transmission  gamma-aminobutyric acid transport  neurotransmitter binding  neuron projection  transmembrane transport  extracellular exosome  
Pathways : KEGGGABAergic synapse   
NDEx NetworkSLC6A13
Atlas of Cancer Signalling NetworkSLC6A13
Wikipedia pathwaysSLC6A13
Orthology - Evolution
OrthoDB6540
GeneTree (enSembl)ENSG00000010379
Phylogenetic Trees/Animal Genes : TreeFamSLC6A13
HOVERGENQ9NSD5
HOGENOMQ9NSD5
Homologs : HomoloGeneSLC6A13
Homology/Alignments : Family Browser (UCSC)SLC6A13
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC6A13 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC6A13
dbVarSLC6A13
ClinVarSLC6A13
1000_GenomesSLC6A13 
Exome Variant ServerSLC6A13
ExAC (Exome Aggregation Consortium)SLC6A13 (select the gene name)
Genetic variants : HAPMAP6540
Genomic Variants (DGV)SLC6A13 [DGVbeta]
DECIPHER (Syndromes)12:329787-372039  ENSG00000010379
CONAN: Copy Number AnalysisSLC6A13 
Mutations
ICGC Data PortalSLC6A13 
TCGA Data PortalSLC6A13 
Broad Tumor PortalSLC6A13
OASIS PortalSLC6A13 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC6A13  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC6A13
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SLC6A13
DgiDB (Drug Gene Interaction Database)SLC6A13
DoCM (Curated mutations)SLC6A13 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC6A13 (select a term)
intoGenSLC6A13
Cancer3DSLC6A13(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615097   
Orphanet
MedgenSLC6A13
Genetic Testing Registry SLC6A13
NextProtQ9NSD5 [Medical]
TSGene6540
GENETestsSLC6A13
Huge Navigator SLC6A13 [HugePedia]
snp3D : Map Gene to Disease6540
BioCentury BCIQSLC6A13
ClinGenSLC6A13
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6540
Chemical/Pharm GKB GenePA35909
Clinical trialSLC6A13
Miscellaneous
canSAR (ICR)SLC6A13 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC6A13
EVEXSLC6A13
GoPubMedSLC6A13
iHOPSLC6A13
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:28:01 CET 2017

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