SV2C (synaptic vesicle glycoprotein 2C)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 22987
Gene name Synaptic vesicle glycoprotein 2C
Gene symbol SV2C
Synonyms (NCBI Gene)
SLC22B3
Chromosome 5
Chromosome location 5q13.3
miRNA miRNA information provided by mirtarbase database.
34
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (34)
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (17)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610291 30670 ENSG00000122012
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  ECM-receptor interaction   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 Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lung cancer Uncertain significance rs146415005 RCV005932375
SV2C-related disorder Likely benign; Benign rs768222996, rs143178564, rs66963762, rs2270927, rs10070440, rs31244, rs368119717, rs372729641, rs190593094, rs2531192108, rs777282920, rs562854902, rs183714782, rs113489031 RCV003909486
RCV003921871
RCV003974071
RCV003979718
RCV003984746
RCV003984790
RCV003951870
RCV003959695
RCV003961432
RCV003951447
RCV003951470
RCV003956903
RCV003976833
RCV003936058
Show/Hide Text Mining Associations (11)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 33588752
Breast Neoplasms Associate 23244111
Cognition Disorders Associate 29324989
Diabetes Gestational Associate 33858444
Epilepsy Associate 33588752
Heredodegenerative Disorders Nervous System Associate 33588752
Hypertension Associate 25117820
Neuroblastoma Associate 33588752
Neurodegenerative Diseases Associate 29324989
Parkinson Disease Associate 33588752, 39973496