• Gene id: 22987

Gene Summary

• Gene Symbol: SV2C   Gene   UCSC   Ensembl
• Gene name: synaptic vesicle glycoprotein 2C
• Alternate names: synaptic vesicle glycoprotein 2C, synaptic vesicle protein 2C,
• Gene location: 5q13.3 (75847462: 76353938)     Exons: 4     NC_000005.10
• OMIM: 610291

Protein Summary

• Protein general information: Q496J9  
  • Name: Synaptic vesicle glycoprotein 2C
  • Length: 727  
  • Mass: 82342
• Sequence:

  MEDSYKDRTSLMKGAKDIAREVKKQTVKKVNQAVDRAQDEYTQRSYSRFQDEEDDDDYYPAGETYNGEANDDEGS
  SEATEGHDEDDEIYEGEYQGIPSMNQAKDSIVSVGQPKGDEYKDRRELESERRADEEELAQQYELIIQECGHGRF
  QWALFFVLGMALMADGVEVFVVGFVLPSAETDLCIPNSGSGWLGSIVYLGMMVGAFFWGGLADKVGRKQSLLICM
  SVNGFFAFLSSFVQGYGFFLFCRLLSGFGIGGAIPTVFSYFAEVLAREKRGEHLSWLCMFWMIGGIYASAMAWAI
  IPHYGWSFSMGSAYQFHSWRVFVIVCALPCVSSVVALTFMPESPRFLLEVGKHDEAWMILKLIHDTNMRARGQPE
  KVFTVNKIKTPKQIDELIEIESDTGTWYRRCFVRIRTELYGIWLTFMRCFNYPVRDNTIKLTIVWFTLSFGYYGL
  SVWFPDVIKPLQSDEYALLTRNVERDKYANFTINFTMENQIHTGMEYDNGRFIGVKFKSVTFKDSVFKSCTFEDV
  TSVNTYFKNCTFIDTVFDNTDFEPYKFIDSEFKNCSFFHNKTGCQITFDDDYSAYWIYFVNFLGTLAVLPGNIVS
  ALLMDRIGRLTMLGGSMVLSGISCFFLWFGTSESMMIGMLCLYNGLTISAWNSLDVVTVELYPTDRRATGFGFLN
  ALCKAAAVLGNLIFGSLVSITKSIPILLASTVLVCGGLVGLCLPDTRTQVLM

• Structural information:
  • Interpro: IPR001646  IPR011701  IPR020846  IPR005828  IPR036259   IPR005829  IPR022308  
  • Prosite: PS50850
  • PDB: 4JRA 5JLV 5MOY 6ES1
  • PDBsum: 4JRA 5JLV 5MOY 6ES1
  • DIP: 60687
  • STRING: ENSP00000423541
• Other Databases: GeneCards:  SV2C  Malacards:  SV2C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008021	synaptic vesicle	TAS	cellular component
GO:0043005	neuron projection	IBA	cellular component
GO:0016021	integral component of membrane	IBA	cellular component
GO:0030672	synaptic vesicle membrane	IBA	cellular component
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030672	synaptic vesicle membrane	TAS	cellular component
GO:0030672	synaptic vesicle membrane	TAS	cellular component
GO:0030672	synaptic vesicle membrane	TAS	cellular component
GO:0030672	synaptic vesicle membrane	TAS	cellular component
GO:0030672	synaptic vesicle membrane	TAS	cellular component
GO:0030672	synaptic vesicle membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0030285	integral component of synaptic vesicle membrane	IEA	cellular component
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04512	ECM-receptor interaction

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq