Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6540
Gene name	Solute carrier family 6 member 13
Gene symbol	SLC6A13
Synonyms (NCBI Gene)	GAT-2GAT2GAT3
Chromosome	12
Chromosome location	12p13.33

Show/Hide all (4)

miRTarBase ID	miRNA	Experiments	Reference
MIRT526763	hsa-miR-4709-5p	PAR-CLIP	22012620
MIRT526762	hsa-miR-421	PAR-CLIP	22012620
MIRT526763	hsa-miR-4709-5p	PAR-CLIP	22012620
MIRT526762	hsa-miR-421	PAR-CLIP	22012620

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005283	Function	Amino acid:sodium symporter activity	IDA	17502375
GO:0005283	Function	Amino acid:sodium symporter activity	IEA
GO:0005308	Function	Creatine transmembrane transporter activity	ISS
GO:0005332	Function	Gamma-aminobutyric acid:sodium:chloride symporter activity	IBA
GO:0005332	Function	Gamma-aminobutyric acid:sodium:chloride symporter activity	IDA	17502375, 22932902
GO:0005332	Function	Gamma-aminobutyric acid:sodium:chloride symporter activity	IEA
GO:0005332	Function	Gamma-aminobutyric acid:sodium:chloride symporter activity	TAS
GO:0005369	Function	Taurine:sodium symporter activity	IEA
GO:0005369	Function	Taurine:sodium symporter activity	ISS
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	22932902
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006865	Process	Amino acid transport	IBA
GO:0008028	Function	Monocarboxylic acid transmembrane transporter activity	IDA	29175673
GO:0015171	Function	Amino acid transmembrane transporter activity	IDA	24842606
GO:0015185	Function	Gamma-aminobutyric acid transmembrane transporter activity	ISS
GO:0015293	Function	Symporter activity	IEA
GO:0015718	Process	Monocarboxylic acid transport	IDA	29175673
GO:0015734	Process	Taurine transmembrane transport	IEA
GO:0015734	Process	Taurine transmembrane transport	ISS
GO:0015881	Process	Creatine transmembrane transport	ISS
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0042995	Component	Cell projection	IBA
GO:0051936	Process	Gamma-aminobutyric acid reuptake	TAS
GO:0051939	Process	Gamma-aminobutyric acid import	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0089718	Process	Amino acid import across plasma membrane	IDA	24842606
GO:0098793	Component	Presynapse	IEA
GO:0150104	Process	Transport across blood-brain barrier	NAS	30280653

MIM	HGNC	e!Ensembl
615097	11046	ENSG00000010379

Q9NSD5

Protein name

Sodium- and chloride-dependent GABA transporter 2 (GAT-2) (Solute carrier family 6 member 13)

Protein function

Mediates sodium- and chloride-dependent transport of gamma-aminobutyric acid (GABA) (PubMed:17502375, PubMed:22932902). Mediates transport of beta-alanine (PubMed:17502375). Can also mediate transport of taurine and hypotaurine (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00209	SNF	32 → 556	Sodium:neurotransmitter symporter family	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, kidney, lung, liver and testis. {ECO:0000269|PubMed:11824941, ECO:0000269|PubMed:17502375}.

Sequence

MDSRVSGTTSNGETKPVYPVMEKKEEDGTLERGHWNNKMEFVLSVAGEIIGLGNVWRFPY
LCYKNGGGAFFIPYLVFLFTCGIPVFLLETALGQYTSQGGVTAWRKICPIFEGIGYASQM
IVILLNVYYIIVLAWALFYLFSSFTIDLPWGGCYHEWNTEHCMEFQKTNGSLNGTSENAT
SPVIEFWERRVLKISDGIQHLGALRWELALCLLLAWVICYFCIWKGVKSTGKVVYFTATF
PYLMLVVLLIRGVTLPGAAQGIQFYLYPNLTRLWDPQVWMDAGTQIFFSFAICLGCLTAL
GSYNKYHNNCYRDCIALCFLNSGTSFVAGFAIFSILGFMSQEQGVPISEVAESGPGLAFI
AYPRAVVMLPFSPLWACCFFFMVVLLGLDSQFVCVESLVTALVDMYPHVFRKKNRREVLI
LGVSVVSFLVGLIMLTEGGMYVFQLFDYYAASGMCLLFVAIFESLCVAWVYGAKRFYDNI
EDMIGYRPWPLIKYCWLFLTPAVCTATFLFSLIKYTPLTYNKKYTYPWWGDALGWLLALS
SMVCIPAWSLYRLGTLKGPFRERIRQLMCPAEDLPQRNPAGPSAPATPRTSLLRLTELES
HC

Sequence length

602

Interactions

View interactions

	KEGG		Reactome
	Synaptic vesicle cycle GABAergic synapse		Na+/Cl- dependent neurotransmitter transporters Reuptake of GABA

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	33218044	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	20398908		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Ischemia	Cerebral Ischemia	BEFREE	29148909		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36755802	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	26352407	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29160736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	20383146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	GWASDB_DG	20383146, 22479191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30787615		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	26352407	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30393201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29160736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	20383146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	PSYGENET_DG	20398908		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	29742425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20398908, 21367462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	20398908		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

SLC6A13 (solute carrier family 6 member 13)