VAMP2 vesicle associated membrane protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: VAMP2provided by HGNC
Official Full Name: vesicle associated membrane protein 2provided by HGNC
Primary source: HGNC:HGNC:12643
See related: Ensembl:ENSG00000220205 MIM:185881; AllianceGenome:HGNC:12643
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SYB2; VAMP-2; NEDHAHM
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 involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is thought to participate in neurotransmitter release at a step between docking and fusion. The protein forms a stable complex with syntaxin, synaptosomal-associated protein, 25 kD, and synaptotagmin. It also forms a distinct complex with synaptophysin. It is a likely candidate gene for familial infantile myasthenia (FIMG) because of its map location and because it encodes a synaptic vesicle protein of the type that has been implicated in the pathogenesis of FIMG. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 159.3), ovary (RPKM 45.0) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (8159147..8162948, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (8064587..8068400, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (8062465..8066266, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Evaluation of cerebrospinal fluid levels of synaptic vesicle protein, VAMP-2, across the sporadic Alzheimer's disease continuum.
Title: Evaluation of cerebrospinal fluid levels of synaptic vesicle protein, VAMP-2, across the sporadic Alzheimer's disease continuum.
Non-coding variants in VAMP2 and SNAP25 affect gene expression: potential implications in migraine susceptibility.
Title: Non-coding variants in VAMP2 and SNAP25 affect gene expression: potential implications in migraine susceptibility.
alpha-Synuclein Disrupts Vesicle Fusion by Two Mutant-Specific Mechanisms.
Title: α-Synuclein Disrupts Vesicle Fusion by Two Mutant-Specific Mechanisms.
Hepatitis B core antigen modulates exosomal miR-135a to target vesicle-associated membrane protein 2 promoting chemoresistance in hepatocellular carcinoma.
Title: Hepatitis B core antigen modulates exosomal miR-135a to target vesicle-associated membrane protein 2 promoting chemoresistance in hepatocellular carcinoma.
Oligomeric alpha-Syn and SNARE complex proteins in peripheral extracellular vesicles of neural origin are biomarkers for Parkinson's disease.
Title: Oligomeric α-Syn and SNARE complex proteins in peripheral extracellular vesicles of neural origin are biomarkers for Parkinson's disease.
The neuronal calcium sensor Synaptotagmin-1 and SNARE proteins cooperate to dilate fusion pores.
Title: The neuronal calcium sensor Synaptotagmin-1 and SNARE proteins cooperate to dilate fusion pores.
Amyloid-beta Peptides Disrupt Interactions Between VAMP-2 and SNAP-25 in Neuronal Cells as Determined by FRET/FLIM.
Title: Amyloid-β Peptides Disrupt Interactions Between VAMP-2 and SNAP-25 in Neuronal Cells as Determined by FRET/FLIM.
VAMP-2 is a surrogate cerebrospinal fluid marker of Alzheimer-related cognitive impairment in adults with Down syndrome.
Title: VAMP-2 is a surrogate cerebrospinal fluid marker of Alzheimer-related cognitive impairment in adults with Down syndrome.
Dlg4 and Vamp2 are involved in comorbid epilepsy and attention-deficit hyperactivity disorder: A microarray data study.
Title: Dlg4 and Vamp2 are involved in comorbid epilepsy and attention-deficit hyperactivity disorder: A microarray data study.
Ceramide induces a multicomponent intracellular calcium increase triggering the acrosome secretion in human sperm.
Title: Ceramide induces a multicomponent intracellular calcium increase triggering the acrosome secretion in human sperm.

Submit: New GeneRIF Correction See all GeneRIFs (48)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements MedGen: C5231491 OMIM: 618760 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH44899 (e-PCR)
- UniSTS:32299

RH55329 (e-PCR)
- UniSTS:14475

WIAF-1699 (e-PCR)
- UniSTS:38906

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SNAP receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables SNARE binding	ISS Inferred from Sequence or Structural Similarity more info
enables calcium-dependent protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables calmodulin binding	ISS Inferred from Sequence or Structural Similarity more info
enables phospholipid binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables syntaxin binding	IPI Inferred from Physical Interaction more info	PubMed
enables syntaxin binding	ISS Inferred from Sequence or Structural Similarity more info
enables syntaxin-1 binding	IBA Inferred from Biological aspect of Ancestor more info
enables syntaxin-1 binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in Golgi to plasma membrane protein transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in SNARE complex assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium-ion regulated exocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to insulin stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in eosinophil degranulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in exocytosis	TAS Traceable Author Statement more info	PubMed
involved_in long-term synaptic potentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in membrane fusion	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in mucus secretion	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in natural killer cell degranulation	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in neutrophil degranulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of intracellular protein transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein-containing complex assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of delayed rectifier potassium channel activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of exocytosis	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in regulation of histamine secretion by mast cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of vesicle-mediated transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to glucose	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic vesicle endocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic vesicle exocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic vesicle exocytosis	TAS Traceable Author Statement more info	PubMed
involved_in vesicle fusion	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle fusion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle-mediated transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of SNARE complex	IBA Inferred from Biological aspect of Ancestor more info
part_of SNARE complex	IDA Inferred from Direct Assay more info	PubMed
part_of SNARE complex	TAS Traceable Author Statement more info	PubMed
located_in clathrin-coated endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in clathrin-coated vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	TAS Traceable Author Statement more info
located_in clathrin-sculpted glutamate transport vesicle membrane	TAS Traceable Author Statement more info
located_in clathrin-sculpted monoamine transport vesicle membrane	TAS Traceable Author Statement more info
located_in cytoplasmic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection	ISS Inferred from Sequence or Structural Similarity more info
located_in neuron projection terminus	ISS Inferred from Sequence or Structural Similarity more info
located_in perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in secretory granule	ISS Inferred from Sequence or Structural Similarity more info
NOT located_in secretory granule membrane	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule membrane	TAS Traceable Author Statement more info
located_in synapse	ISS Inferred from Sequence or Structural Similarity more info
located_in synaptic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in synaptic vesicle	TAS Traceable Author Statement more info	PubMed
located_in synaptic vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in synaptic vesicle membrane	TAS Traceable Author Statement more info
part_of synaptobrevin 2-SNAP-25-syntaxin-1a complex	ISS Inferred from Sequence or Structural Similarity more info
part_of synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex	ISS Inferred from Sequence or Structural Similarity more info
part_of synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex	ISS Inferred from Sequence or Structural Similarity more info
located_in trans-Golgi network	ISS Inferred from Sequence or Structural Similarity more info
located_in vesicle	IDA Inferred from Direct Assay more info	PubMed
part_of voltage-gated potassium channel complex	ISS Inferred from Sequence or Structural Similarity more info
located_in zymogen granule membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: vesicle-associated membrane protein 2

Names: synaptobrevin 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001330125.1 → NP_001317054.1 vesicle-associated membrane protein 2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and the 5' coding region compared to variant 1. The encoded isoform (2) has a longer and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC129492, BU625107

Consensus CDS

CCDS82064.1

UniProtKB/TrEMBL

F8WCA0, J3QRU4

Related

ENSP00000418572.1, ENST00000488857.5

Conserved Domains (1) summary

cd15870
Location:32 → 94

R-SNARE_VAMP2; SNARE motif of VAMP2
NM_014232.3 → NP_055047.2 vesicle-associated membrane protein 2 isoform 1

See identical proteins and their annotated locations for NP_055047.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AC129492, AK021522, AK225777, BU625107

Consensus CDS

CCDS32561.1

UniProtKB/Swiss-Prot

P19065, P63027, Q9BUC2

UniProtKB/TrEMBL

J3QRU4

Related

ENSP00000314214.6, ENST00000316509.11

Conserved Domains (1) summary

cd15870
Location:30 → 92

R-SNARE_VAMP2; SNARE motif of VAMP2