• Gene id: 57084

Gene Summary

• Gene Symbol: SLC17A6   Gene   UCSC   Ensembl
• Aliases: DNPI, VGLUT2
• Gene name: solute carrier family 17 member 6
• Alternate names: vesicular glutamate transporter 2, differentiation-associated BNPI, differentiation-associated Na(+)-dependent inorganic phosphate cotransporter, differentiation-associated Na-dependent inorganic phosphate cotransporter, solute carrier family 17 (sodium-depen,
• Gene location: 11p14.3 (22338380: 22379502)     Exons: 12     NC_000011.10
• OMIM: 607563

Protein Summary

• Protein general information: Q9P2U8  
  • Name: Vesicular glutamate transporter 2 (VGluT2) (Differentiation associated BNPI) (Differentiation associated Na(+) dependent inorganic phosphate cotransporter) (Solute carrier family 17 member 6)
  • Length: 582  
  • Mass: 64392
  • Tissue specificity: Predominantly expressed in adult brain. Expressed in amygdala, caudate nucleus, cerebral cortex, frontal lobe, hippocampus, medulla, occipital lobe, putamen, spinal cord, substantia nigra, subthalamic nucleus, temporal lobe and thalamu
• Sequence:

  MESVKQRILAPGKEGLKNFAGKSLGQIYRVLEKKQDTGETIELTEDGKPLEVPERKAPLCDCTCFGLPRRYIIAI
  MSGLGFCISFGIRCNLGVAIVDMVNNSTIHRGGKVIKEKAKFNWDPETVGMIHGSFFWGYIITQIPGGYIASRLA
  ANRVFGAAILLTSTLNMLIPSAARVHYGCVIFVRILQGLVEGVTYPACHGIWSKWAPPLERSRLATTSFCGSYAG
  AVIAMPLAGILVQYTGWSSVFYVYGSFGMVWYMFWLLVSYESPAKHPTITDEERRYIEESIGESANLLGAMEKFK
  TPWRKFFTSMPVYAIIVANFCRSWTFYLLLISQPAYFEEVFGFEISKVGMLSAVPHLVMTIIVPIGGQIADFLRS
  KQILSTTTVRKIMNCGGFGMEATLLLVVGYSHTRGVAISFLVLAVGFSGFAISGFNVNHLDIAPRYASILMGISN
  GVGTLSGMVCPIIVGAMTKNKSREEWQYVFLIAALVHYGGVIFYAIFASGEKQPWADPEETSEEKCGFIHEDELD
  EETGDITQNYINYGTTKSYGATTQANGGWPSGWEKKEEFVQGEVQDSHSYKDRVDYS

• Structural information:
  • Interpro: IPR011701  IPR020846  IPR036259  
  • Prosite: PS50850
  • STRING: ENSP00000263160
• Other Databases: GeneCards:  SLC17A6  Malacards:  SLC17A6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098700	neurotransmitter loading into synaptic vesicle	IBA	biological process
GO:0050803	regulation of synapse structure or activity	IBA	biological process
GO:0035249	synaptic transmission, glutamatergic	IBA	biological process
GO:0030285	integral component of synaptic vesicle membrane	IBA	cellular component
GO:0022857	transmembrane transporter activity	IBA	molecular function
GO:0006820	anion transport	IBA	biological process
GO:0005326	neurotransmitter transmembrane transporter activity	IBA	molecular function
GO:0060076	excitatory synapse	IBA	cellular component
GO:0030672	synaptic vesicle membrane	IBA	cellular component
GO:0016021	integral component of membrane	IBA	cellular component
GO:0005313	L-glutamate transmembrane transporter activity	IBA	molecular function
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0006814	sodium ion transport	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0015293	symporter activity	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	TAS	biological process
GO:0030672	synaptic vesicle membrane	TAS	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0098700	neurotransmitter loading into synaptic vesicle	IMP	biological process
GO:0015813	L-glutamate transmembrane transport	IEA	biological process
GO:1990384	hyaloid vascular plexus regression	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04723	Retrograde endocannabinoid signaling
hsa04724	Glutamatergic synapse
hsa04721	Synaptic vesicle cycle
hsa05033	Nicotine addiction

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray