SLC6A12 - solute carrier family 6 member 12 Gene

Homo sapiens

Also known as BGT1; GAT2; BGT-1

Gene ID: 6539 | Gene type: protein coding

About SLC6A12

Cytogenetic location: 12p13.33 Genomic coordinates (GRCh38): 12:183,848-214,157 (from NCBI)

This gene has 17 transcripts (splice variants), 198 orthologues and 19 paralogues. Biased expression in liver (RPKM 12.1), kidney (RPKM 10.0) and 5 other tissues.

Summary

Enables monocarboxylic acid transmembrane transporter activity. Involved in monocarboxylic acid transport. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. Predicted to be active in neuron projection. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

SLC6A12 Products(4)

mRNA	Protein	Name
NM_001122847.3	NP_001116319.1	sodium- and chloride-dependent betaine transporter
NM_001122848.3	NP_001116320.1	sodium- and chloride-dependent betaine transporter
NM_001206931.2	NP_001193860.1	sodium- and chloride-dependent betaine transporter
NM_003044.5	NP_003035.3	sodium- and chloride-dependent betaine transporter

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables gamma-aminobutyric acid:sodium:chloride symporter activity	IDA IDA: Inferred from direct assay	7589472	GOA
enables monocarboxylic acid transmembrane transporter activity	IDA IDA: Inferred from direct assay	29175673	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21525870	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in gamma-aminobutyric acid transport	IDA IDA: Inferred from direct assay	7589472	GOA
involved in monocarboxylic acid transport	IDA IDA: Inferred from direct assay	29175673	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC6A12 Protein Structure

SNF

0
100
200
300
400
500
614 a.a.

Protein Preferred Names

Protein Names

sodium- and chloride-dependent betaine transporter

Na(+)/Cl(-) betaine/GABA transporter

SLC6A12 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SLC6A12	P48065	REL	Homo sapiens	Q04864	Validated Y2H	25416956
Intra	SLC6A12	P48065	REL	Homo sapiens	Q04864	Y2H Array	25416956
Intra	SLC6A12	P48065	REL	Homo sapiens	Q04864	Y2H Prey Pooling	25416956
Intra	SLC6A12	P48065	SCRIB	Homo sapiens	Q14160	Ub Reconstruction	21525870
Intra	SLC6A12	P48065	CD79A	Homo sapiens	P11912	Y2H Prey Pooling	32296183
Intra	SLC6A12	P48065	CD79A	Homo sapiens	P11912	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Spinocerebellar Ataxia 11

Spinocerebellar Ataxia Type 11	SCA11
Spinocerebellar Ataxia-11	Ataxia, Spinocerebellar, Type 11

Syringomyelia

Hydromyelia

Hyperekplexia

Hereditary Hyperekplexia	Kok Disease
Congenital Stiff Man Syndrome	Familial Startle Disease
Sthe	Stiff-Baby Syndrome
Hereditary Hyperexplexia	Startle Disease
Exaggerated Startle Reaction	Hyperexplexia Hereditary
Startle Disease, Familial	Startle Reaction, Exaggerated
Stiff-Man Syndrome, Congenital	Stiff-Person Syndrome, Congenital
Congenital Stiff-Man Syndrome	Congenital Stiff-Person Syndrome
Familial Hyperekplexia	Startle Syndrome
Stiff Baby Syndrome	Hyperekplexia, Hereditary
Stiff-Person Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13298	SLC6A12 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SLC6A12	VGNC	VGNC:46455
Bos taurus	SLC6A12	VGNC	VGNC:34915
Mus musculus	SLC6A12	MGD	MGI:95628
Rattus norvegicus	SLC6A12	RGD	RGD:620255

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