SLC6A12 (solute carrier family 6 member 12)

Gene

• Entrez ID: 6539
• Gene name: Solute carrier family 6 member 12
• Gene symbol: SLC6A12
• Synonyms: BGT-1, BGT1, GAT2
• Chromosome: 12
• Chromosome location: 12p13.33

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 603080
• HGNC: 11045
• e!Ensembl: 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

• Sequence:

  MDGKVAVQECGPPAVSWVPEEGEKLDQEDEDQVKDRGQWTNKMEFVLSVAGEIIGLGNVW
  RFPYLCYKNGGGAFFIPYFIFFFVCGIPVFFLEVALGQYTSQGSVTAWRKICPLFQGIGL
  ASVVIESYLNVYYIIILAWALFYLFSSFTSELPWTTCNNFWNTEHCTDFLNHSGAGTVTP
  FENFTSPVMEFWERRVLGITSGIHDLGSLRWELALCLLLAWVICYFCIWKGVKSTGKVVY
  FTATFPYLMLVILLIRGVTLPGAYQGIIYYLKPDLFRLKDPQVWMDAGTQIFFSFAICQG
  CLTALGSYNKYHNNCYKDCIALCFLNSATSFVAGFVVFSILGFMSQEQGVPISEVAESGP
  GLAFIAFPKAVTMMPLSQLWSCLFFIMLIFLGLDSQFVCVECLVTASIDMFPRQLRKSGR
  RELLILTIAVMCYLIGLFLVTEGGMYIFQLFDYYASSGICLLFLSLFEVVCISWVYGADR
  FYDNIEDMIGYRPWPLVKISWLFLTPGLCLATFLFSLSKYTPLKYNNVYVYPPWGYSIGW
  FLALSSMVCVPLFVVITLLKTRGPFRKRLRQLITPDSSLPQPKQHPCLDGSAGRNFGPSP
  TREGLIAGEKETHL

• Sequence length: 614

Pathways

KEGG:

Synaptic vesicle cycle
GABAergic synapse

Reactome:

Amino acid transport across the plasma membrane
Na+/Cl- dependent neurotransmitter transporters
Creatine metabolism
Reuptake of GABA

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	25918132
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	21367462, 21145444, 25312391