This gene encodes a transmembrane protein that is a member of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) family. The encoded protein localizes to late endosomes and lysosomes and is involved in the fusion of transport vesicles to their target membranes. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 201... See more...

Aliases for VAMP7 Gene

Aliases for VAMP7 Gene

  • Vesicle Associated Membrane Protein 7 2 3 5
  • Vesicle-Associated Membrane Protein 7 3 4
  • Synaptobrevin-Like Protein 1 3 4
  • Tetanus-Insensitive VAMP 3 4
  • Synaptobrevin-Like 1 2 3
  • VAMP-7 3 4
  • SYBL1 3 4
  • Tetanus Neurotoxin-Insensitive VAMP 3
  • TI-VAMP 3
  • Ti-VAMP 4
  • TIVAMP 3

External Ids for VAMP7 Gene

Previous HGNC Symbols for VAMP7 Gene

  • SYBL1

Previous GeneCards Identifiers for VAMP7 Gene

  • GC0XP154764
  • GC0XP155110
  • GC0XP143593

Summaries for VAMP7 Gene

Entrez Gene Summary for VAMP7 Gene

  • This gene encodes a transmembrane protein that is a member of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) family. The encoded protein localizes to late endosomes and lysosomes and is involved in the fusion of transport vesicles to their target membranes. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]

GeneCards Summary for VAMP7 Gene

VAMP7 (Vesicle Associated Membrane Protein 7) is a Protein Coding gene. Diseases associated with VAMP7 include Tetanus and 46,Xy Partial Gonadal Dysgenesis. Among its related pathways are Clathrin derived vesicle budding and Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include syntaxin binding and SNAP receptor activity. An important paralog of this gene is YKT6.

UniProtKB/Swiss-Prot Summary for VAMP7 Gene

  • Involved in the targeting and/or fusion of transport vesicles to their target membrane during transport of proteins from the early endosome to the lysosome. Required for heterotypic fusion of late endosomes with lysosomes and homotypic lysosomal fusion. Required for calcium regulated lysosomal exocytosis. Involved in the export of chylomicrons from the endoplasmic reticulum to the cis Golgi. Required for exocytosis of mediators during eosinophil and neutrophil degranulation, and target cell killing by natural killer cells. Required for focal exocytosis of late endocytic vesicles during phagosome formation.

Gene Wiki entry for VAMP7 Gene

Additional gene information for VAMP7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VAMP7 Gene

Genomics for VAMP7 Gene

GeneHancer (GH) Regulatory Elements for VAMP7 Gene

Promoters and enhancers for VAMP7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ155880 Promoter 1.8 EPDnew Ensembl CraniofacialAtlas 500.7 +0.2 221 2.2 ZBTB40 ZNF217 EP300 TCF12 POLR2G SP1 PHF8 JUND SIX5 ZIC2 VAMP7 piR-31162-550
GH0XJ155889 Enhancer 0.8 Ensembl 0.4 +6.2 6221 4.6 JUND FOS RFX1 MYC ZEB1 NFIC GABPA FOSL2 KLF13 JUN VAMP7 piR-31162-550
GH0XJ155876 Enhancer 0.4 Ensembl 0.7 -4.2 -4247 0.7 ATF7 SPI1 MEF2A CBX8 EBF1 DPH3P2 lnc-VAMP7-2 VAMP7
GH0XJ155890 Enhancer 0.4 Ensembl 0.4 +9.9 9921 1.6 NFE2 MAFG IKZF1 EMSY VAMP7 piR-31162-550
GH0XJ155896 Enhancer 0.3 Ensembl 0.4 +15.4 15420 0.6 ATF2 ATF7 piR-31162-550 VAMP7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VAMP7 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VAMP7

Top Transcription factor binding sites by QIAGEN in the VAMP7 gene promoter:
  • AREB6
  • Arnt
  • C/EBPbeta
  • Meis-1
  • Nkx2-5

Genomic Locations for VAMP7 Gene

Genomic Locations for VAMP7 Gene
chrX:155,881,280-155,943,769
(GRCh38/hg38)
Size:
62,490 bases
Orientation:
Plus strand
chrX:155,110,943-155,173,433
(GRCh37/hg19)
Size:
62,491 bases
Orientation:
Plus strand

Genomic View for VAMP7 Gene

Genes around VAMP7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VAMP7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VAMP7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VAMP7 Gene

Proteins for VAMP7 Gene

  • Protein details for VAMP7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51809-VAMP7_HUMAN
    Recommended name:
    Vesicle-associated membrane protein 7
    Protein Accession:
    P51809
    Secondary Accessions:
    • Q53GY7
    • Q7Z409
    • Q9H4A7

    Protein attributes for VAMP7 Gene

    Size:
    220 amino acids
    Molecular mass:
    24935 Da
    Quaternary structure:
    • Component of the SNARE complex composed of STX4, SNAP23 and VAMP7 that binds SYT7 during lysosomal exocytosis. Component of the SNARE complex composed of STX7, STX8, VAMP7 and VTI1B that is required for heterotypic fusion of late endosomes with lysosomes. May interact with STX17 (By similarity). Interacts with PICALM (PubMed:23741335). Interacts with RAB21 (PubMed:25648148).
    Miscellaneous:
    • The gene coding for this protein is located in the pseudoautosomal region 2 (PAR2) of X and Y chromosomes.
    • Loss-of-function mutant (antisense inhibition) displays impaired granzyme B release and target cell killing by natural killer cells.
    SequenceCaution:
    • Sequence=BI547528; Type=Miscellaneous discrepancy; Note=Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for VAMP7 Gene

    Alternative splice isoforms for VAMP7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VAMP7 Gene

Post-translational modifications for VAMP7 Gene

  • Ubiquitination at Lys125, Lys137, Lys160, and Lys172
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for VAMP7 Gene

Domains & Families for VAMP7 Gene

Gene Families for VAMP7 Gene

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

Protein Domains for VAMP7 Gene

Blocks:
  • Synaptobrevin
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for VAMP7 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54296, highly similar to Synaptobrevin-like protein 1 (B4DMB4_HUMAN)
  • Tetanus-insensitive VAMP (VAMP7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51809

UniProtKB/Swiss-Prot:

VAMP7_HUMAN :
  • Belongs to the synaptobrevin family.
Family:
  • Belongs to the synaptobrevin family.
genes like me logo Genes that share domains with VAMP7: view

Function for VAMP7 Gene

Molecular function for VAMP7 Gene

UniProtKB/Swiss-Prot Function:
Involved in the targeting and/or fusion of transport vesicles to their target membrane during transport of proteins from the early endosome to the lysosome. Required for heterotypic fusion of late endosomes with lysosomes and homotypic lysosomal fusion. Required for calcium regulated lysosomal exocytosis. Involved in the export of chylomicrons from the endoplasmic reticulum to the cis Golgi. Required for exocytosis of mediators during eosinophil and neutrophil degranulation, and target cell killing by natural killer cells. Required for focal exocytosis of late endocytic vesicles during phagosome formation.

Gene Ontology (GO) - Molecular Function for VAMP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding IBA 21873635
GO:0005484 SNAP receptor activity IBA 21873635
GO:0005515 protein binding IPI 16354670
GO:0019905 syntaxin binding IEA --
genes like me logo Genes that share ontologies with VAMP7: view
genes like me logo Genes that share phenotypes with VAMP7: view

Human Phenotype Ontology for VAMP7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for VAMP7 Gene

MGI Knock Outs for VAMP7:

Animal Model Products

CRISPR Products

miRNA for VAMP7 Gene

miRTarBase miRNAs that target VAMP7

Clone Products

  • Addgene plasmids for VAMP7

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for VAMP7 Gene

Localization for VAMP7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VAMP7 Gene

Cytoplasmic vesicle, secretory vesicle membrane; Single-pass type IV membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type IV membrane protein. Late endosome membrane; Single-pass type IV membrane protein. Lysosome membrane; Single-pass type IV membrane protein. Endoplasmic reticulum membrane; Single-pass type IV membrane protein. Cytoplasmic vesicle, phagosome membrane; Single-pass type IV membrane protein. Cell junction, synapse, synaptosome. Note=In immature neurons expression is localized in vesicular structures in axons and dendrites while in mature neurons it is localized to the somatodendritic region. Colocalizes with LAMP1 in kidney cells. Localization to the endoplasmic reticulum membrane was observed in the intestine but not in liver or kidney (By similarity). {ECO:0000250}.

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 VAMP7 gene
Compartment Confidence
plasma membrane 5
endosome 5
lysosome 5
golgi apparatus 5
endoplasmic reticulum 4
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for VAMP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IDA 18253931
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane TAS --
GO:0005768 endosome IEA --
genes like me logo Genes that share ontologies with VAMP7: view

Pathways & Interactions for VAMP7 Gene

genes like me logo Genes that share pathways with VAMP7: view

Pathways by source for VAMP7 Gene

1 GeneGo (Thomson Reuters) pathway for VAMP7 Gene
  • Transport Clathrin-coated vesicle cycle

Gene Ontology (GO) - Biological Process for VAMP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006887 exocytosis IBA 21873635
GO:0006888 ER to Golgi vesicle-mediated transport ISS 16495485
GO:0006892 post-Golgi vesicle-mediated transport TAS --
GO:0006906 vesicle fusion IDA 10888671
GO:0006911 phagocytosis, engulfment ISS 15133481
genes like me logo Genes that share ontologies with VAMP7: view

No data available for SIGNOR curated interactions for VAMP7 Gene

Drugs & Compounds for VAMP7 Gene

(2) Drugs for VAMP7 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884
genes like me logo Genes that share compounds with VAMP7: view

Transcripts for VAMP7 Gene

mRNA/cDNA for VAMP7 Gene

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

CRISPR Products

Clone Products

  • Addgene plasmids for VAMP7

Alternative Splicing Database (ASD) splice patterns (SP) for VAMP7 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b
SP1:
SP2: -

Relevant External Links for VAMP7 Gene

GeneLoc Exon Structure for
VAMP7

Expression for VAMP7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for VAMP7 Gene

Protein differential expression in normal tissues from HIPED for VAMP7 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.2), Bone (9.4), Monocytes (7.1), and Platelet (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for VAMP7 Gene



Protein tissue co-expression partners for VAMP7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VAMP7

SOURCE GeneReport for Unigene cluster for VAMP7 Gene:

Hs.24167

mRNA Expression by UniProt/SwissProt for VAMP7 Gene:

P51809-VAMP7_HUMAN
Tissue specificity: Detected in all tissues tested.

Evidence on tissue expression from TISSUES for VAMP7 Gene

  • Nervous system(4.8)
  • Skin(4.3)
  • Liver(4.2)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for VAMP7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • pituitary gland
Thorax:
  • breast
  • clavicle
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • urethra
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with VAMP7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for VAMP7 Gene

Orthologs for VAMP7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for VAMP7 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia VAMP7 31 30
  • 95.61 (n)
OneToOne
cow
(Bos Taurus)
Mammalia VAMP7 30
  • 94.85 (n)
chimpanzee
(Pan troglodytes)
Mammalia VAMP7 31 30
  • 94.04 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Vamp7 17 31 30
  • 92.88 (n)
rat
(Rattus norvegicus)
Mammalia Vamp7 30
  • 86.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia VAMP7 31
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia VAMP7 31
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves VAMP7 31 30
  • 84.7 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VAMP7 31
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vamp7 30
  • 78.48 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9516 30
zebrafish
(Danio rerio)
Actinopterygii sybl1 31 30
  • 72.6 (n)
OneToOne
zgc56506 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000700 30
  • 55.35 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1599 31 30
  • 54.59 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons VAMP714 30
  • 51.61 (n)
rice
(Oryza sativa)
Liliopsida Os10g0154000 30
  • 48.23 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToOne
Species where no ortholog for VAMP7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for VAMP7 Gene

ENSEMBL:
Gene Tree for VAMP7 (if available)
TreeFam:
Gene Tree for VAMP7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VAMP7: view image

Paralogs for VAMP7 Gene

(2) SIMAP similar genes for VAMP7 Gene using alignment to 2 proteins:

  • VAMP7_HUMAN
  • E5RH06_HUMAN
genes like me logo Genes that share paralogs with VAMP7: view

Variants for VAMP7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VAMP7 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
708966 Likely Benign: not provided 155,939,772(+) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
721652 Benign: not provided 155,900,534(+) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
777848 Benign: not provided 155,898,234(+) C/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
795813 Likely Benign: not provided 155,900,518(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for VAMP7 Gene

Structural Variations from Database of Genomic Variants (DGV) for VAMP7 Gene

Variant ID Type Subtype PubMed ID
dgv1407e199 CNV deletion 23128226
esv2657377 CNV deletion 23128226
nsv10001 CNV gain 18304495
nsv10043 CNV gain 18304495
nsv1153010 CNV duplication 26484159

Variation tolerance for VAMP7 Gene

Residual Variation Intolerance Score: 65.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.17; 23.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VAMP7 Gene

Human Gene Mutation Database (HGMD)
VAMP7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VAMP7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VAMP7 Gene

Disorders for VAMP7 Gene

MalaCards: The human disease database

(8) MalaCards diseases for VAMP7 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search VAMP7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for VAMP7

genes like me logo Genes that share disorders with VAMP7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for VAMP7 Gene

Publications for VAMP7 Gene

  1. A synaptobrevin-like gene in the Xq28 pseudoautosomal region undergoes X inactivation. (PMID: 8640232) D'Esposito M … D'Urso M (Nature genetics 1996) 2 3 4 54
  2. Uncoupling the functions of CALM in VAMP sorting and clathrin-coated pit formation. (PMID: 23741335) Sahlender DA … Robinson MS (PloS one 2013) 3 4 54
  3. Role of Varp, a Rab21 exchange factor and TI-VAMP/VAMP7 partner, in neurite growth. (PMID: 19745841) Burgo A … Galli T (EMBO reports 2009) 3 23 54
  4. Role of HRB in clathrin-dependent endocytosis. (PMID: 18819912) Chaineau M … Galli T (The Journal of biological chemistry 2008) 3 23 54
  5. Molecular basis for the sorting of the SNARE VAMP7 into endocytic clathrin-coated vesicles by the ArfGAP Hrb. (PMID: 18775314) Pryor PR … Luzio JP (Cell 2008) 3 23 54

Products for VAMP7 Gene

Sources for VAMP7 Gene