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	6539
Gene name	Solute carrier family 6 member 12
Gene symbol	SLC6A12
Synonyms (NCBI Gene)	BGT-1BGT1GAT2
Chromosome	12
Chromosome location	12p13.33

Show/Hide all (16)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017112	hsa-miR-335-5p	Microarray	18185580
MIRT043673	hsa-miR-342-3p	CLASH	23622248
MIRT1365858	hsa-miR-150	CLIP-seq
MIRT1365859	hsa-miR-3127-3p	CLIP-seq
MIRT1365860	hsa-miR-4713-5p	CLIP-seq
MIRT1365861	hsa-miR-532-3p	CLIP-seq
MIRT2459826	hsa-miR-342-5p	CLIP-seq
MIRT2459827	hsa-miR-3925-3p	CLIP-seq
MIRT2459828	hsa-miR-4257	CLIP-seq
MIRT2459829	hsa-miR-4474-3p	CLIP-seq
MIRT2459830	hsa-miR-4664-5p	CLIP-seq
MIRT2459831	hsa-miR-520a-5p	CLIP-seq
MIRT2459832	hsa-miR-525-5p	CLIP-seq
MIRT2459833	hsa-miR-550a	CLIP-seq
MIRT2459834	hsa-miR-760	CLIP-seq
MIRT2459835	hsa-miR-766	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003333	Process	Amino acid transmembrane transport	IEA
GO:0005332	Function	Gamma-aminobutyric acid:sodium:chloride symporter activity	IBA
GO:0005332	Function	Gamma-aminobutyric acid:sodium:chloride symporter activity	IDA	7589472, 7861179
GO:0005332	Function	Gamma-aminobutyric acid:sodium:chloride symporter activity	IEA
GO:0005515	Function	Protein binding	IPI	21525870, 24550280, 25416956, 32296183
GO:0005886	Component	Plasma membrane	IBA
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:0006865	Process	Amino acid transport	TAS
GO:0008028	Function	Monocarboxylic acid transmembrane transporter activity	IDA	29175673
GO:0015171	Function	Amino acid transmembrane transporter activity	TAS
GO:0015293	Function	Symporter activity	IEA
GO:0015718	Process	Monocarboxylic acid transport	IDA	29175673
GO:0015812	Process	Gamma-aminobutyric acid transport	IDA	7589472, 7861179
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	7861179
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0031460	Process	Glycine betaine transport	ISS
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0042995	Component	Cell projection	IBA
GO:0051936	Process	Gamma-aminobutyric acid reuptake	TAS
GO:0098793	Component	Presynapse	IEA

MIM	HGNC	e!Ensembl
603080	11045	ENSG00000111181

P48065

Protein name

Sodium- and chloride-dependent betaine transporter (BGT-1) (Na(+)/Cl(-) betaine/GABA transporter) (Solute carrier family 6 member 12)

Protein function

Transporter that mediates cellular uptake of betaine and GABA in a sodium- and chloride-dependent process (PubMed:7589472). May have a role in regulation of GABAergic transmission in the brain through the reuptake of GABA into presynaptic termin

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00209	SNF	36 → 561	Sodium:neurotransmitter symporter family	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in kidney, liver, heart, skeletal muscle, placenta, and a widespread distribution in the brain. {ECO:0000269|PubMed:7589472}.

Sequence

MDGKVAVQECGPPAVSWVPEEGEKLDQEDEDQVKDRGQWTNKMEFVLSVAGEIIGLGNVW
RFPYLCYKNGGGAFFIPYFIFFFVCGIPVFFLEVALGQYTSQGSVTAWRKICPLFQGIGL
ASVVIESYLNVYYIIILAWALFYLFSSFTSELPWTTCNNFWNTEHCTDFLNHSGAGTVTP
FENFTSPVMEFWERRVLGITSGIHDLGSLRWELALCLLLAWVICYFCIWKGVKSTGKVVY
FTATFPYLMLVILLIRGVTLPGAYQGIIYYLKPDLFRLKDPQVWMDAGTQIFFSFAICQG
CLTALGSYNKYHNNCYKDCIALCFLNSATSFVAGFVVFSILGFMSQEQGVPISEVAESGP
GLAFIAFPKAVTMMPLSQLWSCLFFIMLIFLGLDSQFVCVECLVTASIDMFPRQLRKSGR
RELLILTIAVMCYLIGLFLVTEGGMYIFQLFDYYASSGICLLFLSLFEVVCISWVYGADR
FYDNIEDMIGYRPWPLVKISWLFLTPGLCLATFLFSLSKYTPLKYNNVYVYPPWGYSIGW
FLALSSMVCVPLFVVITLLKTRGPFRKRLRQLITPDSSLPQPKQHPCLDGSAGRNFGPSP
TREGLIAGEKETHL

Sequence length

614

Interactions

View interactions

	KEGG		Reactome
	Synaptic vesicle cycle GABAergic synapse		Amino acid transport across the plasma membrane Na+/Cl- dependent neurotransmitter transporters Creatine metabolism 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 (2)

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.
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (19)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthma	Asthma	BEFREE	20597903		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	25918132		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	BEFREE	12111824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	20597903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	27873492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26800787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31932766	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	20026354, 31108110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30393201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	31830527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	31830527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	27873492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26800787, 27873492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26800787, 27873492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	11191352		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	27873492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21145444, 21367462, 25312391		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	21145444, 21367462, 25312391		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	31932766	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

SLC6A12 (solute carrier family 6 member 12)