Gene Gene information from NCBI Gene database.
Entrez ID 6844
Gene name Vesicle associated membrane protein 2
Gene symbol VAMP2
Synonyms (NCBI Gene)
NEDHAHMSYB2VAMP-2
Chromosome 17
Chromosome location 17p13.1
Summary The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involve
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs1598265382 T>G Pathogenic Missense variant, coding sequence variant
rs1598265384 A>G Pathogenic Missense variant, coding sequence variant
rs1598265387 A>G Pathogenic Missense variant, coding sequence variant
rs1598265438 ATG>- Pathogenic Inframe deletion, coding sequence variant
rs1598265441 ACC>- Pathogenic Coding sequence variant, splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
435
miRTarBase ID miRNA Experiments Reference
MIRT001758 hsa-miR-34a-5p Luciferase reporter assay 14697198
MIRT051508 hsa-let-7e-5p CLASH 23622248
MIRT437775 hsa-miR-206 Luciferase reporter assay 25481410
MIRT437775 hsa-miR-206 Luciferase reporter assay 25481410
MIRT437775 hsa-miR-206 Luciferase reporter assay 25481410
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SP1 Activation 8774732
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
74
GO ID Ontology Definition Evidence Reference
GO:0000149 Function SNARE binding ISS
GO:0005484 Function SNAP receptor activity IBA
GO:0005515 Function Protein binding IPI 9920726, 10481273, 17196367, 17313651, 19478182, 19543288, 20798282, 22118466, 22172278, 25416956, 26635000, 32296183, 32814053, 33961781, 37776851, 38225382
GO:0005516 Function Calmodulin binding ISS
GO:0005543 Function Phospholipid binding ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
185881 12643 ENSG00000220205
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P63027
Protein name Vesicle-associated membrane protein 2 (VAMP-2) (Synaptobrevin-2)
Protein function Involved in the targeting and/or fusion of transport vesicles to their target membrane (By similarity). Major SNARE protein of synaptic vesicles which mediates fusion of synaptic vesicles to release neurotransmitters. Essential for fast vesicula
PDB 3FIE , 3FII , 3RK2 , 3RK3 , 3RL0 , 7UDC , 9CKX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00957 Synaptobrevin 28 116 Synaptobrevin Family
Tissue specificity TISSUE SPECIFICITY: Nervous system and skeletal muscle. {ECO:0000269|PubMed:8760387}.
Sequence
Sequence length 116
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  SNARE interactions in vesicular transport
Synaptic vesicle cycle
Insulin secretion
Vasopressin-regulated water reabsorption
Salivary secretion
  Serotonin Neurotransmitter Release Cycle
Norepinephrine Neurotransmitter Release Cycle
trans-Golgi Network Vesicle Budding
Glutamate Neurotransmitter Release Cycle
Dopamine Neurotransmitter Release Cycle
Acetylcholine Neurotransmitter Release Cycle
Lysosome Vesicle Biogenesis
Golgi Associated Vesicle Biogenesis
Other interleukin signaling
Toxicity of botulinum toxin type D (BoNT/D)
Toxicity of botulinum toxin type B (BoNT/B)
Toxicity of botulinum toxin type F (BoNT/F)
Toxicity of tetanus toxin (TeNT)
Toxicity of botulinum toxin type G (BoNT/G)
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
GABA synthesis, release, reuptake and degradation
Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
15
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements Likely pathogenic; Pathogenic rs2507691218, rs1598265441, rs1598265387, rs1598265382, rs1598265384, rs1598265438 RCV003994625
RCV000999497
RCV000999494
RCV000999495
RCV000999496
RCV000999498
Severe neurodevelopmental delay Pathogenic rs1598265441 RCV000824682
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental disorder Uncertain significance rs2151865530 RCV002277692
VAMP2-related disorder Likely benign; Uncertain significance rs369941263, rs1317751622, rs201492595, rs376454310 RCV003936644
RCV003901588
RCV003926868
RCV003971652
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 30929742
Adenocarcinoma of Lung Associate 26134228, 33021972
Alzheimer Disease Associate 32812023
Autistic Disorder Associate 30929742, 32906212
Carcinoma Hepatocellular Associate 19861515, 35068871, 37674210
Carcinoma Non Small Cell Lung Associate 26134228
Cognition Disorders Associate 32906212
Developmental Disabilities Associate 30929742, 32906212
Diabetes Mellitus Type 2 Associate 28812028
Epilepsy Associate 27458546, 30929742, 32906212