SV2C (synaptic vesicle glycoprotein 2C)

Gene

• Entrez ID: 22987
• Gene name: Synaptic vesicle glycoprotein 2C
• Gene symbol: SV2C
• Synonyms (NCBI Gene): SLC22B3
• Chromosome: 5
• Chromosome location: 5q13.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT621947	hsa-miR-6758-5p	HITS-CLIP	23824327
MIRT621946	hsa-miR-6856-5p	HITS-CLIP	23824327
MIRT621945	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT621944	hsa-miR-520g-5p	HITS-CLIP	23824327
MIRT621943	hsa-miR-517-5p	HITS-CLIP	23824327
MIRT621942	hsa-miR-1301-5p	HITS-CLIP	23824327
MIRT621941	hsa-miR-6502-5p	HITS-CLIP	23824327
MIRT621940	hsa-miR-518d-5p	HITS-CLIP	23824327
MIRT621939	hsa-miR-518e-5p	HITS-CLIP	23824327
MIRT621938	hsa-miR-518f-5p	HITS-CLIP	23824327
MIRT621937	hsa-miR-519a-5p	HITS-CLIP	23824327
MIRT621936	hsa-miR-519b-5p	HITS-CLIP	23824327
MIRT621935	hsa-miR-519c-5p	HITS-CLIP	23824327
MIRT621934	hsa-miR-520c-5p	HITS-CLIP	23824327
MIRT621933	hsa-miR-522-5p	HITS-CLIP	23824327
MIRT621932	hsa-miR-523-5p	HITS-CLIP	23824327
MIRT621931	hsa-miR-526a	HITS-CLIP	23824327
MIRT621947	hsa-miR-6758-5p	HITS-CLIP	23824327
MIRT621946	hsa-miR-6856-5p	HITS-CLIP	23824327
MIRT621945	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT621944	hsa-miR-520g-5p	HITS-CLIP	23824327
MIRT621943	hsa-miR-517-5p	HITS-CLIP	23824327
MIRT621942	hsa-miR-1301-5p	HITS-CLIP	23824327
MIRT621941	hsa-miR-6502-5p	HITS-CLIP	23824327
MIRT621940	hsa-miR-518d-5p	HITS-CLIP	23824327
MIRT621939	hsa-miR-518e-5p	HITS-CLIP	23824327
MIRT621938	hsa-miR-518f-5p	HITS-CLIP	23824327
MIRT621937	hsa-miR-519a-5p	HITS-CLIP	23824327
MIRT621936	hsa-miR-519b-5p	HITS-CLIP	23824327
MIRT621935	hsa-miR-519c-5p	HITS-CLIP	23824327
MIRT621934	hsa-miR-520c-5p	HITS-CLIP	23824327
MIRT621933	hsa-miR-522-5p	HITS-CLIP	23824327
MIRT621932	hsa-miR-523-5p	HITS-CLIP	23824327
MIRT621931	hsa-miR-526a	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	24240280
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008021	Component	Synaptic vesicle	TAS	15217342
GO:0016020	Component	Membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	TAS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0045202	Component	Synapse	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0098691	Component	Dopaminergic synapse	IEA
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IEA

Other IDs

• MIM: 610291
• HGNC: 30670
• e!Ensembl: ENSG00000122012

Protein

• UniProt ID: Q496J9
• Protein name: Synaptic vesicle glycoprotein 2C
• Protein function: Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles. {ECO:0
• PDB: 4JRA, 5JLV, 5MOY, 6ES1, 7UIA, 7UIB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00083	Sugar_tr	117 → 428	Sugar (and other) transporter	Family
  PF13599	Pentapeptide_4	496 → 573	Pentapeptide repeats (9 copies)	Repeat
  PF07690	MFS_1	566 → 725	Major Facilitator Superfamily	Family

• Sequence:

  MEDSYKDRTSLMKGAKDIAREVKKQTVKKVNQAVDRAQDEYTQRSYSRFQDEEDDDDYYP
  AGETYNGEANDDEGSSEATEGHDEDDEIYEGEYQGIPSMNQAKDSIVSVGQPKGDEYKDR
  RELESERRADEEELAQQYELIIQECGHGRFQWALFFVLGMALMADGVEVFVVGFVLPSAE
  TDLCIPNSGSGWLGSIVYLGMMVGAFFWGGLADKVGRKQSLLICMSVNGFFAFLSSFVQG
  YGFFLFCRLLSGFGIGGAIPTVFSYFAEVLAREKRGEHLSWLCMFWMIGGIYASAMAWAI
  IPHYGWSFSMGSAYQFHSWRVFVIVCALPCVSSVVALTFMPESPRFLLEVGKHDEAWMIL
  KLIHDTNMRARGQPEKVFTVNKIKTPKQIDELIEIESDTGTWYRRCFVRIRTELYGIWLT
  FMRCFNYPVRDNTIKLTIVWFTLSFGYYGLSVWFPDVIKPLQSDEYALLTRNVERDKYAN
  FTINFTMENQIHTGMEYDNGRFIGVKFKSVTFKDSVFKSCTFEDVTSVNTYFKNCTFIDT
  VFDNTDFEPYKFIDSEFKNCSFFHNKTGCQITFDDDYSAYWIYFVNFLGTLAVLPGNIVS
  ALLMDRIGRLTMLGGSMVLSGISCFFLWFGTSESMMIGMLCLYNGLTISAWNSLDVVTVE
  LYPTDRRATGFGFLNALCKAAAVLGNLIFGSLVSITKSIPILLASTVLVCGGLVGLCLPD
  TRTQVLM

• Sequence length: 727

Pathways

KEGG:

ECM-receptor interaction

Reactome:

Toxicity of botulinum toxin type D (BoNT/D)
Toxicity of botulinum toxin type A (BoNT/A)
Toxicity of botulinum toxin type F (BoNT/F)

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SV2C-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	33588752	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	25117820		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23244111	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	29324989	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	33858444	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	18977120		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33588752	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29713895		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	25117820	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	25117820, 28774501		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23244111		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28774501, 29274878		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	33588752	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	29324989	Associate	★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	28774501		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	23032990, 28246328, 29274878, 31394034		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	33588752, 39973496	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	BEFREE	28774501		★☆☆☆☆ Found in Text Mining only