• Gene id: 9152

Gene Summary

• Gene Symbol: SLC6A5   Gene   UCSC   Ensembl
• Aliases: GLYT-2, GLYT2, HKPX3, NET1
• Gene name: solute carrier family 6 member 5
• Alternate names: sodium- and chloride-dependent glycine transporter 2, solute carrier family 6 (neurotransmitter transporter, glycine), member 5,
• Gene location: 11p15.1 (20599493: 20659284)     Exons: 16     NC_000011.10
• Gene summary(Entrez): This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glyc
• OMIM: 607852

Protein Summary

• Protein general information: Q9Y345  
  • Name: Sodium and chloride dependent glycine transporter 2 (GlyT 2) (GlyT2) (Solute carrier family 6 member 5)
  • Length: 797  
  • Mass: 87434
  • Tissue specificity: Expressed in medulla, and to a lesser extent in spinal cord and cerebellum.
• Sequence:

  MDCSAPKEMNKLPANSPEAAAAQGHPDGPCAPRTSPEQELPAAAAPPPPRVPRSASTGAQTFQSADARACEAERP
  GVGSCKLSSPRAQAASAALRDLREAQGAQASPPPGSSGPGNALHCKIPFLRGPEGDANVSVGKGTLERNNTPVVG
  WVNMSQSTVVLATDGITSVLPGSVATVATQEDEQGDENKARGNWSSKLDFILSMVGYAVGLGNVWRFPYLAFQNG
  GGAFLIPYLMMLALAGLPIFFLEVSLGQFASQGPVSVWKAIPALQGCGIAMLIISVLIAIYYNVIICYTLFYLFA
  SFVSVLPWGSCNNPWNTPECKDKTKLLLDSCVISDHPKIQIKNSTFCMTAYPNVTMVNFTSQANKTFVSGSEEYF
  KYFVLKISAGIEYPGEIRWPLALCLFLAWVIVYASLAKGIKTSGKVVYFTATFPYVVLVILLIRGVTLPGAGAGI
  WYFITPKWEKLTDATVWKDAATQIFFSLSAAWGGLITLSSYNKFHNNCYRDTLIVTCTNSATSIFAGFVIFSVIG
  FMANERKVNIENVADQGPGIAFVVYPEALTRLPLSPFWAIIFFLMLLTLGLDTMFATIETIVTSISDEFPKYLRT
  HKPVFTLGCCICFFIMGFPMITQGGIYMFQLVDTYAASYALVIIAIFELVGISYVYGLQRFCEDIEMMIGFQPNI
  FWKVCWAFVTPTILTFILCFSFYQWEPMTYGSYRYPNWSMVLGWLMLACSVIWIPIMFVIKMHLAPGRFIERLKL
  VCSPQPDWGPFLAQHRGERYKNMIDPLGTSSLGLKLPVKDLELGTQC

• Structural information:
  • Interpro: IPR000175  IPR037272  
  • Prosite: PS00610 PS00754 PS50267
  • STRING: ENSP00000434364
• Other Databases: GeneCards:  SLC6A5  Malacards:  SLC6A5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060012	synaptic transmission, glycinergic	IBA	biological process
GO:1903804	glycine import across plasma membrane	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0015375	glycine:sodium symporter activity	IBA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0015375	glycine:sodium symporter activity	TAS	molecular function
GO:0016021	integral component of membrane	TAS	cellular component
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0015375	glycine:sodium symporter activity	IDA	molecular function
GO:1903804	glycine import across plasma membrane	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0060012	synaptic transmission, glycinergic	IMP	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0015816	glycine transport	IEA	biological process
GO:0099056	integral component of presynaptic membrane	IEA	cellular component
GO:0098690	glycinergic synapse	IEA	cellular component
GO:0015187	glycine transmembrane transporter activity	IEA	molecular function
GO:0001504	neurotransmitter uptake	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04721	Synaptic vesicle cycle

Diseases

Associated diseases	References
Hyperekplexia	KEGG:H00769
Hyperekplexia	KEGG:H00769
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray