• Gene id: 6540

Gene Summary

• Gene Symbol: SLC6A13   Gene   UCSC   Ensembl
• Aliases: GAT-2, GAT2, GAT3
• Gene name: solute carrier family 6 member 13
• Alternate names: sodium- and chloride-dependent GABA transporter 2, GABA transport protein, GABA transporter 2, solute carrier family 6 (neurotransmitter transporter), member 13, solute carrier family 6 (neurotransmitter transporter, GABA), member 13,
• Gene location: 12p13.33 (262929: 220620)     Exons: 20     NC_000012.12
• OMIM: 601901

Protein Summary

• Protein general information: Q9NSD5  
  • Name: Sodium and chloride dependent GABA transporter 2 (GAT 2) (Solute carrier family 6 member 13)
  • Length: 602  
  • Mass: 68009
  • Tissue specificity: Expressed in brain, kidney, lung, liver and testis. {ECO
• Sequence:

  MDSRVSGTTSNGETKPVYPVMEKKEEDGTLERGHWNNKMEFVLSVAGEIIGLGNVWRFPYLCYKNGGGAFFIPYL
  VFLFTCGIPVFLLETALGQYTSQGGVTAWRKICPIFEGIGYASQMIVILLNVYYIIVLAWALFYLFSSFTIDLPW
  GGCYHEWNTEHCMEFQKTNGSLNGTSENATSPVIEFWERRVLKISDGIQHLGALRWELALCLLLAWVICYFCIWK
  GVKSTGKVVYFTATFPYLMLVVLLIRGVTLPGAAQGIQFYLYPNLTRLWDPQVWMDAGTQIFFSFAICLGCLTAL
  GSYNKYHNNCYRDCIALCFLNSGTSFVAGFAIFSILGFMSQEQGVPISEVAESGPGLAFIAYPRAVVMLPFSPLW
  ACCFFFMVVLLGLDSQFVCVESLVTALVDMYPHVFRKKNRREVLILGVSVVSFLVGLIMLTEGGMYVFQLFDYYA
  ASGMCLLFVAIFESLCVAWVYGAKRFYDNIEDMIGYRPWPLIKYCWLFLTPAVCTATFLFSLIKYTPLTYNKKYT
  YPWWGDALGWLLALSSMVCIPAWSLYRLGTLKGPFRERIRQLMCPAEDLPQRNPAGPSAPATPRTSLLRLTELES
  HC

• Structural information:
  • Interpro: IPR000175  IPR002981  IPR037272  
  • Prosite: PS00610 PS00754 PS50267
  • STRING: ENSP00000339260
• Other Databases: GeneCards:  SLC6A13  Malacards:  SLC6A13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0150104	transport across blood-brain barrier	NAS	biological process
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:0006836	neurotransmitter transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0015812	gamma-aminobutyric acid transport	IEA	biological process
GO:0015812	gamma-aminobutyric acid transport	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04727	GABAergic synapse
hsa04721	Synaptic vesicle cycle

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R