SLC6A13 - solute carrier family 6 member 13 Gene

Homo sapiens

Also known as GAT2; GAT3; GAT-2

Gene ID: 6540 | Gene type: protein coding

About SLC6A13

Cytogenetic location: 12p13.33 Genomic coordinates (GRCh38): 12:220,622-262,836 (from NCBI)

This gene has 12 transcripts (splice variants), 251 orthologues and 19 paralogues. Biased expression in kidney (RPKM 28.5) and liver (RPKM 1.5).

Summary

Enables amino acid transmembrane transporter activity and monocarboxylic acid transmembrane transporter activity. Involved in amino acid import across plasma membrane and monocarboxylic acid transport. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]

SLC6A13 Products(3)

mRNA	Protein	Name
NM_001190997.3	NP_001177926.1	sodium- and chloride-dependent GABA transporter 2 isoform 2
NM_001243392.2	NP_001230321.1	sodium- and chloride-dependent GABA transporter 2 isoform 3
NM_016615.5	NP_057699.2	sodium- and chloride-dependent GABA transporter 2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables amino acid transmembrane transporter activity	IDA IDA: Inferred from direct assay	24842606	GOA
enables amino acid:sodium symporter activity	IDA IDA: Inferred from direct assay	17502375	GOA
enables gamma-aminobutyric acid:sodium:chloride symporter activity	IDA IDA: Inferred from direct assay	17502375	GOA
enables monocarboxylic acid transmembrane transporter activity	IDA IDA: Inferred from direct assay	29175673	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in amino acid import across plasma membrane	IDA IDA: Inferred from direct assay	24842606	GOA
involved in monocarboxylic acid transport	IDA IDA: Inferred from direct assay	29175673	GOA
acts upstream of nitrogen compound transport	IDA IDA: Inferred from direct assay	24842606	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	22932902	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

SLC6A13 Protein Structure

SNF

0
100
200
300
400
500
602 a.a.

Protein Preferred Names

Protein Names

sodium- and chloride-dependent GABA transporter 2

GABA transport protein

Related Diseases

Diseases

Alias

Giant Axonal Neuropathy 1, Autosomal Recessive

Giant Axonal Neuropathy	Giant Axonal Neuropathy 1
Gan	GAN1
Giant Axonal Neuropathy-1	Neuropathy, Giant Axonal
Giant Axonal Disease	Neuropathy, Axonal, Giant, Type 1

Iminoglycinuria

Iminoglycinuria, Digenic

Childhood Absence Epilepsy

Pyknolepsy	Petit Mal Epilepsy
Absence Seizures	Absence Seizure
Petit Mal Seizure	Absence Epilepsy, Childhood
Pykno-Epilepsy	Epilepsy, Absence
Absence Epilepsy	Pycnolepsy

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-RS13299	SLC6A13 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SLC6A13	VGNC	VGNC:34916
Felis catus	SLC6A13	VGNC	VGNC:65410
Canis familiaris	SLC6A13	VGNC	VGNC:46456
Rattus norvegicus	SLC6A13	RGD	RGD:620788
Mus musculus	SLC6A13	MGD	MGI:95629

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