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; AllianceGenome:HGNC:12647
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
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (85577586..85582031)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (85579646..85584091)
105.20220307	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?

The STX17-SNAP47-VAMP7/VAMP8 complex is the default SNARE complex mediating autophagosome-lysosome fusion.
Title: The STX17-SNAP47-VAMP7/VAMP8 complex is the default SNARE complex mediating autophagosome-lysosome fusion.
VAMP8 suppresses the metastasis via DDX5/beta-catenin signal pathway in osteosarcoma.
Title: VAMP8 suppresses the metastasis via DDX5/β-catenin signal pathway in osteosarcoma.
Oxidative Stress Impairs Autophagy via Inhibition of Lysosomal Transport of VAMP8.
Title: Oxidative Stress Impairs Autophagy via Inhibition of Lysosomal Transport of VAMP8.
Prefused lysosomes cluster on autophagosomes regulated by VAMP8.
Title: Prefused lysosomes cluster on autophagosomes regulated by VAMP8.
Stimulating TRPM7 suppresses cancer cell proliferation and metastasis by inhibiting autophagy.
Title: Stimulating TRPM7 suppresses cancer cell proliferation and metastasis by inhibiting autophagy.
mTOR-mediated phosphorylation of VAMP8 and SCFD1 regulates autophagosome maturation.
Title: mTOR-mediated phosphorylation of VAMP8 and SCFD1 regulates autophagosome maturation.
Organelle tethering, pore formation and SNARE compensation in the late endocytic pathway.
Title: Organelle tethering, pore formation and SNARE compensation in the late endocytic pathway.
Association of KLK3, VAMP8 and MDM4 Genetic Variants within microRNA Binding Sites with Prostate Cancer: Evidence from Serbian Population.
Title: Association of KLK3, VAMP8 and MDM4 Genetic Variants within microRNA Binding Sites with Prostate Cancer: Evidence from Serbian Population.
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.

Submit: New GeneRIF Correction See all GeneRIFs (36)

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

EBI GWAS Catalog

Description
Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in SNARE complex assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in autophagosome maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in autophagosome membrane docking	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to virus	IEA Inferred from Electronic Annotation more info
NOT involved_in eosinophil degranulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mucus secretion	IBA Inferred from Biological aspect of Ancestor more info
involved_in mucus secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of secretion by cell	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in neutrophil degranulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of histamine secretion by mast cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein localization to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within symbiont entry into host cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle fusion	IBA Inferred from Biological aspect of Ancestor 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
located_in azurophil granule membrane	IDA Inferred from Direct Assay more info	PubMed
located_in azurophil granule membrane	TAS Traceable Author Statement more info
located_in clathrin-coated endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome	TAS Traceable Author Statement more info	PubMed
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in late endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in mucin granule	IBA Inferred from Biological aspect of Ancestor more info
located_in mucin granule	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in phagocytic vesicle membrane	TAS Traceable Author Statement more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in recycling endosome	IDA Inferred from Direct Assay more info	PubMed
located_in recycling endosome membrane	TAS Traceable Author Statement more info
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 specific granule membrane	TAS Traceable Author Statement more info
located_in tertiary granule membrane	TAS Traceable Author Statement more info
located_in vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in zymogen granule membrane	IEA Inferred from Electronic Annotation more info

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

O60625, Q53SP9, Q6IB09, 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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

85577586..85582031

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017005170.2 → 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