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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 Show/Hide all (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 Show/Hide all (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 Pathway Reactome Pathway
SNARE interactions in vesicular transport Serotonin Neurotransmitter Release Cycle
Synaptic vesicle cycle Norepinephrine Neurotransmitter Release Cycle
Insulin secretion trans-Golgi Network Vesicle Budding
Vasopressin-regulated water reabsorption Glutamate Neurotransmitter Release Cycle
Salivary secretion 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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (1 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe neurodevelopmental delay Pathogenic rs1598265441 RCV000824682
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
MAJOR DEPRESSIVE DISORDER — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VAMP2-related disorder Likely benign; Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (54)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26134228
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 32812023 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 25445064, 28130000, 28461697
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic behavior Autism GENOMICS_ENGLAND_DG 30929742
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 30929742, 32906212 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 18628682
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 30672978
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 19861515, 35068871, 37674210 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 30672978
★★★★★
★☆☆☆☆
Found in Text Mining only
Central visual impairment Central Visual Impairment GENOMICS_ENGLAND_DG 30929742
★★★★★
★☆☆☆☆
Found in Text Mining only