Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6844
Gene name Gene Name - the full gene name approved by the HGNC.
Vesicle associated membrane protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
VAMP2
Synonyms (NCBI Gene) Gene synonyms aliases
NEDHAHM, SYB2, VAMP-2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NEDHAHM
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
SP1 Activation 8774732
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000149 Function SNARE binding ISS
GO:0005484 Function SNAP receptor activity IBA 21873635
GO:0005515 Function Protein binding IPI 9920726, 10481273, 17196367, 17313651, 19478182, 19543288, 20798282, 22118466, 22172278, 25416956, 26635000, 32296183, 32814053
GO:0005516 Function Calmodulin binding ISS
GO:0005543 Function Phospholipid binding ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
185881 12643 ENSG00000220205
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autism Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
30929742
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
30929742
Mental retardation Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
30929742
Unknown
Disease term Disease name Evidence References Source
Mental depression Unipolar Depression, Major Depressive Disorder 24886127 ClinVar
Associations from Text Mining
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