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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6539
Gene name Gene Name - the full gene name approved by the HGNC.	Solute carrier family 6 member 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SLC6A12
Synonyms (NCBI Gene) Gene synonyms aliases	BGT-1, BGT1, GAT2
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	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(15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003333	Process	Amino acid transmembrane transport	IEA
GO:0005332	Function	Gamma-aminobutyric acid:sodium symporter activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	21525870, 24550280, 25416956, 32296183
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	IEA
GO:0006836	Process	Neurotransmitter transport	IEA
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:0015718	Process	Monocarboxylic acid transport	IDA	29175673
GO:0015812	Process	Gamma-aminobutyric acid transport	IEA
GO:0016021	Component	Integral component of membrane	TAS	7861179
GO:0035725	Process	Sodium ion transmembrane transport	IBA	21873635
GO:0043005	Component	Neuron projection	IBA	21873635

MIM	HGNC	e!Ensembl
603080	11045	ENSG00000111181

Protein

UniProt ID

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

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	21367462, 21145444, 25312391

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Asthma	Asthma		25918132	ClinVar

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text Mining
Developmental Disabilities	Associate	31932766
Schizophrenia	Associate	31932766

SLC6A12 (solute carrier family 6 member 12)