VAMP8 Gene (Protein Coding)

Vesicle Associated Membrane Protein 8

GC02P085561
GIFtS:
42
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] See more...

Aliases for VAMP8 Gene

Aliases for VAMP8 Gene

  • Vesicle Associated Membrane Protein 8 2 3 5
  • EDB 2 3 4
  • Vesicle-Associated Membrane Protein 8 3 4
  • Endobrevin 2 4
  • VAMP-8 3 4
  • Vesicle-Associated Membrane Protein 8 (Endobrevin) 3
  • VAMP8 5

External Ids for VAMP8 Gene

Previous GeneCards Identifiers for VAMP8 Gene

  • GC02P085700
  • GC02P086098
  • GC02P085779
  • GC02P085716
  • GC02P085658
  • GC02P085788
  • GC02P085701

Summaries for VAMP8 Gene

Entrez Gene Summary for VAMP8 Gene

  • 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]

GeneCards Summary for VAMP8 Gene

VAMP8 (Vesicle Associated Membrane Protein 8) is a Protein Coding gene. Diseases associated with VAMP8 include Hemophagocytic Lymphohistiocytosis, Familial, 5 and Hermansky-Pudlak Syndrome. Among its related pathways are wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include syntaxin binding and SNAP receptor activity. An important paralog of this gene is VAMP3.

UniProtKB/Swiss-Prot Summary for VAMP8 Gene

  • SNAREs, soluble N-ethylmaleimide-sensitive factor-attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion. VAMP8 is a SNARE involved in autophagy through the direct control of autophagosome membrane fusion with the lysososome membrane via its interaction with the STX17-SNAP29 binary t-SNARE complex (PubMed:23217709, PubMed:25686604). Also required for dense-granule secretion in platelets (PubMed:12130530). Plays also a role in regulated enzyme secretion in pancreatic acinar cells (By similarity). Involved in the abscission of the midbody during cell division, which leads to completely separate daughter cells (By similarity). Involved in the homotypic fusion of early and late endosomes (By similarity). Participates also in the activation of type I interferon antiviral response through a TRIM6-dependent mechanism (PubMed:31694946).

Gene Wiki entry for VAMP8 Gene

Additional gene information for VAMP8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VAMP8 Gene

Genomics for VAMP8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for VAMP8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VAMP8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VAMP8

Top Transcription factor binding sites by QIAGEN in the VAMP8 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • E2F
  • E2F-1
  • FosB
  • JunB
  • JunD
  • Msx-1
  • Olf-1

Genomic Locations for VAMP8 Gene

Latest Assembly
chr2:85,561,562-85,582,031
(GRCh38/hg38)
Size:
20,470 bases
Orientation:
Plus strand

Previous Assembly
chr2:85,804,709-85,809,154
(GRCh37/hg19 by Entrez Gene)
Size:
4,446 bases
Orientation:
Plus strand

chr2:85,788,685-85,809,154
(GRCh37/hg19 by Ensembl)
Size:
20,470 bases
Orientation:
Plus strand

Genomic View for VAMP8 Gene

Genes around VAMP8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VAMP8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VAMP8 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for VAMP8 Gene

Proteins for VAMP8 Gene

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  3. Assay products for research

  • Protein details for VAMP8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BV40-VAMP8_HUMAN
    Recommended name:
    Vesicle-associated membrane protein 8
    Protein Accession:
    Q9BV40
    Secondary Accessions:
    • O60625
    • Q53SP9
    • Q6IB09

    Protein attributes for VAMP8 Gene

    Size:
    100 amino acids
    Molecular mass:
    11438 Da
    Quaternary structure:
    • Forms a SNARE complex composed of VAMP8, SNAP29 and STX17 involved in fusion of autophagosome with lysosome (PubMed:25686604). Found in a number of SNARE complexes with NAPA, SNAP23, SNAP25, STX1A, STX4, STX7, STX8 and VTI1B (PubMed:12130530). Interacts with PICALM (By similarity). SNARE complex formation and binding by PICALM are mutually exclusive processes for VAMP8 (By similarity). Interacts with SBF2/MTMR13 (PubMed:25648148). Interacts with RAB21 (in GTP-bound form) in response to starvation; the interaction probably regulates VAMP8 endolysosomal trafficking (PubMed:25648148). Interacts with STX17; this interaction is increased in the absence of TMEM39A (PubMed:31806350). Interacts with TRIM6 (PubMed:31694946).

    Three dimensional structures from OCA and Proteopedia for VAMP8 Gene

neXtProt entry for VAMP8 Gene

Protein Expression for VAMP8 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for VAMP8 Gene

  • Ubiquitination at Lys24, Lys47, Lys59, and Lys64
  • Modification sites at PhosphoSitePlus

Other Protein References for VAMP8 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for VAMP8 Gene

Domains & Families for VAMP8 Gene

Gene Families for VAMP8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for VAMP8 Gene

InterPro:
Blocks:
  • Synaptobrevin
ProtoNet:

Suggested Antigen Peptide Sequences for VAMP8 Gene

GenScript: Design optimal peptide antigens:
  • Endobrevin (VAMP8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BV40

UniProtKB/Swiss-Prot:

VAMP8_HUMAN :
  • Belongs to the synaptobrevin family.
Family:
  • Belongs to the synaptobrevin family.
genes like me logo Genes that share domains with VAMP8: view

Function for VAMP8 Gene

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  6. Cell Lines for research

Molecular function for VAMP8 Gene

UniProtKB/Swiss-Prot Function:
SNAREs, soluble N-ethylmaleimide-sensitive factor-attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion. VAMP8 is a SNARE involved in autophagy through the direct control of autophagosome membrane fusion with the lysososome membrane via its interaction with the STX17-SNAP29 binary t-SNARE complex (PubMed:23217709, PubMed:25686604). Also required for dense-granule secretion in platelets (PubMed:12130530). Plays also a role in regulated enzyme secretion in pancreatic acinar cells (By similarity). Involved in the abscission of the midbody during cell division, which leads to completely separate daughter cells (By similarity). Involved in the homotypic fusion of early and late endosomes (By similarity). Participates also in the activation of type I interferon antiviral response through a TRIM6-dependent mechanism (PubMed:31694946).
GENATLAS Biochemistry:
vesicle associated membrane protein 8,endobrevin,member of the VAMP synaptobrevin protein family (soluble N ethylmaleimide-sensitive factor-attachment protein receptor,SNARE protein),associated with the early endosome,involved in regulating membrane traffic

Phenotypes From GWAS Catalog for VAMP8 Gene

Gene Ontology (GO) - Molecular Function for VAMP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005484 SNAP receptor activity IBA 21873635
GO:0005515 protein binding IPI 22118466
GO:0019869 chloride channel inhibitor activity IDA 18570918
GO:0019905 syntaxin binding IBA 21873635
genes like me logo Genes that share ontologies with VAMP8: view
genes like me logo Genes that share phenotypes with VAMP8: view

Animal Models for VAMP8 Gene

MGI Knock Outs for VAMP8:
  • Vamp8 Vamp8<tm1.1Hong>
  • Vamp8 Vamp8<tm1Hong>
  • Vamp8 Vamp8<tm1b(EUCOMM)Hmgu>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VAMP8

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for VAMP8 Gene

Localization for VAMP8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VAMP8 Gene

Lysosome membrane. Single-pass type IV membrane protein. Early endosome membrane. Single-pass type IV membrane protein. Late endosome membrane. Single-pass type IV membrane protein. Cell membrane. Single-pass type IV membrane protein. Note=Perinuclear vesicular structures of the early and late endosomes, coated pits, and trans-Golgi (By similarity). Sub-tight junctional domain in retinal pigment epithelium cells. Midbody region during cytokinesis. Lumenal oriented, apical membranes of nephric tubular cell (By similarity). Cycles through the apical but not through the basolateral plasma membrane (By similarity). Apical region of acinar cells; in zymogen granule membranes (By similarity). {ECO:0000250 UniProtKB:Q9WUF4}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for VAMP8 gene
Compartment Confidence
plasma membrane 5
endosome 5
cytosol 5
lysosome 5
extracellular 4
mitochondrion 3
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Plasma membrane (2)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for VAMP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 18253931
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA,IDA 23217709
GO:0005768 endosome IEA --
GO:0005769 early endosome TAS 9614193
genes like me logo Genes that share ontologies with VAMP8: view

Pathways & Interactions for VAMP8 Gene

genes like me logo Genes that share pathways with VAMP8: view

Pathways by source for VAMP8 Gene

3 GeneGo (Thomson Reuters) pathways for VAMP8 Gene
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
  • wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)

Gene Ontology (GO) - Biological Process for VAMP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0006892 post-Golgi vesicle-mediated transport TAS --
GO:0006906 vesicle fusion IBA 21873635
GO:0006914 autophagy IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with VAMP8: view

No data available for SIGNOR curated interactions for VAMP8 Gene

Drugs & Compounds for VAMP8 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for VAMP8 Gene

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mRNA/cDNA for VAMP8 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VAMP8

Alternative Splicing Database (ASD) splice patterns (SP) for VAMP8 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d
SP1:
SP2: -
SP3: - -
SP4:

Relevant External Links for VAMP8 Gene

GeneLoc Exon Structure for
VAMP8

Expression for VAMP8 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for VAMP8 Gene

mRNA expression in normal human tissues for VAMP8 Gene
mRNA expression by BioGPS for VAMP8 GenemRNA expression by GTEx for VAMP8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for VAMP8 Gene

This gene is overexpressed in Nasal epithelium (17.5), Monocytes (8.0), Peripheral blood mononuclear cells (7.9), and NK cells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for VAMP8 Gene



Protein tissue co-expression partners for VAMP8 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VAMP8

SOURCE GeneReport for Unigene cluster for VAMP8 Gene:

Hs.714302

mRNA Expression by UniProt/SwissProt for VAMP8 Gene:

Q9BV40-VAMP8_HUMAN
Tissue specificity: Platelets.

Evidence on tissue expression from TISSUES for VAMP8 Gene

  • Lung(4.7)
  • Nervous system(3.5)
  • Kidney(3.1)
  • Blood(3)
  • Eye(3)
  • Skin(2.9)
  • Pancreas(2.9)
  • Spleen(2.9)
  • Lymph node(2.8)
  • Bone marrow(2.7)
  • Liver(2.7)
  • Intestine(2.7)
  • Heart(2.4)
  • Stomach(2.3)
  • Adrenal gland(2.2)
  • Thyroid gland(2.2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with VAMP8: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for VAMP8 Gene

Orthologs for VAMP8 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for VAMP8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia VAMP8 30 31
  • 99.33 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia VAMP8 30 31
  • 91.33 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia VAMP8 30 31
  • 87.41 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia VAMP8 31
  • 86 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Vamp8 30 17 31
  • 84.67 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Vamp8 30
  • 84.01 (n)
Lizard
(Anolis carolinensis)
 Reptilia VAMP8 31
  • 67 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia vamp8 30
  • 71 (n)
Zebrafish
(Danio rerio)
 Actinopterygii vamp8 30 31
  • 67.41 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea vamp-8 31
  • 32 (a)
 OneToMany
vamp-7 31
  • 13 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SNC1 31
  • 21 (a)
 ManyToMany
SNC2 31
  • 21 (a)
 ManyToMany
Species where no ortholog for VAMP8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for VAMP8 Gene

ENSEMBL:
Gene Tree for VAMP8 (if available)
TreeFam:
Gene Tree for VAMP8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VAMP8: view image

Paralogs for VAMP8 Gene

Paralogs for VAMP8 Gene

(6) SIMAP similar genes for VAMP8 Gene using alignment to 3 proteins:

  • VAMP8_HUMAN
  • B8ZZT4_HUMAN
  • C9JXZ5_HUMAN
genes like me logo Genes that share paralogs with VAMP8: view

Variants for VAMP8 Gene

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dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for VAMP8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for VAMP8 Gene

Residual Variation Intolerance Score: 65.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.16; 3.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VAMP8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
VAMP8

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for VAMP8 Gene

Disorders for VAMP8 Gene

MalaCards: The human disease database

(4) MalaCards diseases for VAMP8 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
hemophagocytic lymphohistiocytosis, familial, 5
  • fhl5
hermansky-pudlak syndrome
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
hemophagocytic lymphohistiocytosis, familial, 4
  • fhl4
leukodystrophy, hypomyelinating, 6
  • hld6
- elite association - COSMIC cancer census association via MalaCards
Search VAMP8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for VAMP8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with VAMP8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for VAMP8 Gene

Publications for VAMP8 Gene

  1. Endobrevin, a novel synaptobrevin/VAMP-like protein preferentially associated with the early endosome. (PMID: 9614193) Wong SH … Hong W (Molecular biology of the cell 1998) 2 3 4 23
  2. Endobrevin maps to chromosome 2 in human and chromosome 6 in mouse. (PMID: 9878266) Bui TD … Hong W (Genomics 1998) 2 3 23
  3. The ER-Localized Transmembrane Protein TMEM39A/SUSR2 Regulates Autophagy by Controlling the Trafficking of the PtdIns(4)P Phosphatase SAC1. (PMID: 31806350) Miao G … Zhang H (Molecular cell 2020) 3 4
  4. VAMP8 Contributes to the TRIM6-Mediated Type I Interferon Antiviral Response during West Nile Virus Infection. (PMID: 31694946) van Tol S … Rajsbaum R (Journal of virology 2020) 3 4
  5. ATG14 promotes membrane tethering and fusion of autophagosomes to endolysosomes. (PMID: 25686604) Diao J … Zhong Q (Nature 2015) 3 4

ExternalLinks

View latest publications for VAMP8 gene in Mastermind

Products for VAMP8 Gene

  • Addgene plasmids for VAMP8

Sources for VAMP8 Gene