• Gene id: 6539

Gene Summary

• Gene Symbol: SLC6A12   Gene   UCSC   Ensembl
• Aliases: BGT-1, BGT1, GAT2
• Gene name: solute carrier family 6 member 12
• Alternate names: sodium- and chloride-dependent betaine transporter, Na(+)/Cl(-) betaine/GABA transporter, betaine/GABA transporter-1, gamma-aminobutyric acid transporter, solute carrier family 6 (neurotransmitter transporter), member 12, solute carrier family 6 (neurotransmit,
• Gene location: 12p13.33 (214156: 190080)     Exons: 19     NC_000012.12

Protein Summary

• Protein general information: P48065  
  • Name: Sodium and chloride dependent betaine transporter (BGT 1) (Na(+)/Cl( ) betaine/GABA transporter) (Solute carrier family 6 member 12)
  • Length: 614  
  • Mass: 69368
  • Tissue specificity: Liver, heart, skeletal muscle, placenta, and a widespread distribution in the brain.
• Sequence:

  MDGKVAVQECGPPAVSWVPEEGEKLDQEDEDQVKDRGQWTNKMEFVLSVAGEIIGLGNVWRFPYLCYKNGGGAFF
  IPYFIFFFVCGIPVFFLEVALGQYTSQGSVTAWRKICPLFQGIGLASVVIESYLNVYYIIILAWALFYLFSSFTS
  ELPWTTCNNFWNTEHCTDFLNHSGAGTVTPFENFTSPVMEFWERRVLGITSGIHDLGSLRWELALCLLLAWVICY
  FCIWKGVKSTGKVVYFTATFPYLMLVILLIRGVTLPGAYQGIIYYLKPDLFRLKDPQVWMDAGTQIFFSFAICQG
  CLTALGSYNKYHNNCYKDCIALCFLNSATSFVAGFVVFSILGFMSQEQGVPISEVAESGPGLAFIAFPKAVTMMP
  LSQLWSCLFFIMLIFLGLDSQFVCVECLVTASIDMFPRQLRKSGRRELLILTIAVMCYLIGLFLVTEGGMYIFQL
  FDYYASSGICLLFLSLFEVVCISWVYGADRFYDNIEDMIGYRPWPLVKISWLFLTPGLCLATFLFSLSKYTPLKY
  NNVYVYPPWGYSIGWFLALSSMVCVPLFVVITLLKTRGPFRKRLRQLITPDSSLPQPKQHPCLDGSAGRNFGPSP
  TREGLIAGEKETHL

• Structural information:
  • Interpro: IPR000175  IPR002983  IPR037272  
  • Prosite: PS00610 PS00754 PS50267
  • STRING: ENSP00000399136
• Other Databases: GeneCards:  SLC6A12  Malacards:  SLC6A12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005332	gamma-aminobutyric acid:sodium symporter activity	IBA	molecular function
GO:0042165	neurotransmitter binding	IBA	molecular function
GO:0043005	neuron projection	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005332	gamma-aminobutyric acid:sodium symporter activity	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0015171	amino acid transmembrane transporter activity	TAS	molecular function
GO:0006865	amino acid transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0003333	amino acid transmembrane transport	IEA	biological process
GO:0015812	gamma-aminobutyric acid transport	IEA	biological process
GO:0015812	gamma-aminobutyric acid transport	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04727	GABAergic synapse
hsa04721	Synaptic vesicle cycle

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq