VAMP8 vesicle associated membrane protein 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: VAMP8provided by HGNC
Official Full Name: vesicle associated membrane protein 8provided by HGNC
Primary source: HGNC:HGNC:12647
See related: Ensembl:ENSG00000118640 MIM:603177
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: EDB; VAMP-8
Summary: This gene encodes an integral membrane protein that belongs to the synaptobrevin/vesicle-associated membrane protein subfamily of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs). The encoded protein is involved in the fusion of synaptic vesicles with the presynaptic membrane.[provided by RefSeq, Jun 2010]
Expression: Ubiquitous expression in colon (RPKM 79.3), placenta (RPKM 77.9) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p11.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
109.20210226	current	GRCh38.p13 (GCF_000001405.39)	2	NC_000002.12 (85577535..85582031)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (85804709..85809154)

Chromosome 2 - NC_000002.12 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?

Decoding three distinct states of the Syntaxin17 SNARE motif in mediating autophagosome-lysosome fusion.
Title: Decoding three distinct states of the Syntaxin17 SNARE motif in mediating autophagosome-lysosome fusion.
data show that defects in adaptor protein complex 3-dependent maturation of Weibel-Palade bodies impairs exocytosis by affecting the recruitment of VAMP8.
Title: Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells.
these results provide evidence that TRIM6 contributes to the antiviral response against WNV and identify VAMP8 as a novel regulator of the IFN-I system.
Title: VAMP8 Contributes to the TRIM6-Mediated Type I Interferon Antiviral Response during West Nile Virus Infection.
autophagic degradation critically determines the production of HBV virions and HBsAg; this is controlled by the SNAP29-VAMP8 interaction
Title: Synaptosomal-associated protein 29 is required for the autophagic degradation of hepatitis B virus.
Findings indicate that patients with low vesicle associated membrane protein 8 (VAMP8)/low rab GTP-binding protein RAB37 (RAB37) expression profile showed significantly high risk of death even after adjusting for tumor metastasis parameter.
Title: VAMP8, a vesicle-SNARE required for RAB37-mediated exocytosis, possesses a tumor metastasis suppressor function.
The rs1010 SNP genotypes AG (p = 0.028) and GG (p = 0.016) were associated with increased susceptibility to Pulmonary Tuberculosis.
Title: Association of <i>VAMP8</i> rs1010 Polymorphism with Host Susceptibility to Pulmonary Tuberculosis in a Chinese Han Population.
our study suggested that VAMP8 gene variants might not contribute to glioma susceptibility and associated with glioma in the Chinese Han population.
Title: No association of VAMP8 gene polymorphisms with glioma in a Chinese Han population.
Vesicle-associated membrane protein 8 as a novel oncogene by promoting cell proliferation and therapeutic resistance in glioma. Targeting VAMP8 may serve as a potential therapeutic regimen for the treatment of glioma.
Title: VAMP8 facilitates cellular proliferation and temozolomide resistance in human glioma cells.
Starvation-induced MTMR13 and RAB21 activity regulates VAMP8 to promote autophagosome-lysosome fusion.
Title: Starvation-induced MTMR13 and RAB21 activity regulates VAMP8 to promote autophagosome-lysosome fusion.
Cytotoxic granule exocytosis is a sequential, multivesicle fusion process requiring VAMP8-mediated recycling endosome fusion before cytotoxic granule fusion.
Title: VAMP8-dependent fusion of recycling endosomes with the plasma membrane facilitates T lymphocyte cytotoxicity.

Submit: New GeneRIF Correction See all GeneRIFs (28)

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
Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. GeneReviews: 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

G59843 (e-PCR)
- UniSTS:136992

D2S2607 (e-PCR)
- UniSTS:83023

RH98261 (e-PCR)
- UniSTS:88777

Homology

Homologs of the VAMP8 gene: The VAMP8 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, zebrafish, and frog.
Orthologs from Annotation Pipeline: 215 organisms have orthologs with human gene VAMP8
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
SNAP receptor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
chloride channel inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
syntaxin binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Process	Evidence Code	Pubs
SNARE complex assembly	IBA Inferred from Biological aspect of Ancestor more info	PubMed
antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS Traceable Author Statement more info
autophagosome maturation	IMP Inferred from Mutant Phenotype more info	PubMed
autophagosome membrane docking	IDA Inferred from Direct Assay more info	PubMed
defense response to virus	IEA Inferred from Electronic Annotation more info
NOT eosinophil degranulation	IMP Inferred from Mutant Phenotype more info	PubMed
membrane organization	TAS Traceable Author Statement more info
mucus secretion	IBA Inferred from Biological aspect of Ancestor more info	PubMed
mucus secretion	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of secretion by cell	IDA Inferred from Direct Assay more info	PubMed
NOT neutrophil degranulation	IMP Inferred from Mutant Phenotype more info	PubMed
neutrophil degranulation	TAS Traceable Author Statement more info
positive regulation of histamine secretion by mast cell	IMP Inferred from Mutant Phenotype more info	PubMed
post-Golgi vesicle-mediated transport	TAS Traceable Author Statement more info
protein transport	IEA Inferred from Electronic Annotation more info
regulation of protein localization to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
vesicle fusion	IBA Inferred from Biological aspect of Ancestor more info	PubMed
viral entry into host cell	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
SNARE complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
SNARE complex	IDA Inferred from Direct Assay more info	PubMed
azurophil granule membrane	IDA Inferred from Direct Assay more info	PubMed
azurophil granule membrane	TAS Traceable Author Statement more info
clathrin-coated vesicle membrane	TAS Traceable Author Statement more info
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	IDA Inferred from Direct Assay more info	PubMed
early endosome	TAS Traceable Author Statement more info	PubMed
early endosome membrane	IEA Inferred from Electronic Annotation more info
extracellular exosome	HDA more info	PubMed
integral component of membrane	IEA Inferred from Electronic Annotation more info
late endosome membrane	IDA Inferred from Direct Assay more info	PubMed
lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
membrane	IDA Inferred from Direct Assay more info	PubMed
mucin granule	IBA Inferred from Biological aspect of Ancestor more info	PubMed
mucin granule	IDA Inferred from Direct Assay more info	PubMed
perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
phagocytic vesicle membrane	TAS Traceable Author Statement more info
plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
recycling endosome	IDA Inferred from Direct Assay more info	PubMed
recycling endosome membrane	TAS Traceable Author Statement more info
secretory granule membrane	IDA Inferred from Direct Assay more info	PubMed
secretory granule membrane	TAS Traceable Author Statement more info
specific granule membrane	TAS Traceable Author Statement more info
tertiary granule membrane	TAS Traceable Author Statement more info
vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: vesicle-associated membrane protein 8

Names: vesicle-associated membrane protein 8 (endobrevin)

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.

Genomic

NG_022887.1 RefSeqGene

Range

5096..9541

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003761.5 → NP_003752.2 vesicle-associated membrane protein 8

See identical proteins and their annotated locations for NP_003752.2

Status: REVIEWED

Source sequence(s)

BC001634, BM702226, BX092149

Consensus CDS

CCDS1979.1

UniProtKB/Swiss-Prot

Q9BV40

Related

ENSP00000263864.5, ENST00000263864.10

Conserved Domains (1) summary

cd15868
Location:10 → 77

R-SNARE_VAMP8; SNARE motif of VAMP8

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p13 Primary Assembly

Range

85577535..85582031

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017005170.1 → XP_016860659.1 vesicle-associated membrane protein 8 isoform X1

UniProtKB/TrEMBL

B8ZZT4

Related

ENSP00000387094.1, ENST00000409760.1

Conserved Domains (1) summary

cl22856
Location:10 → 55

SNARE; SNARE motif