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Aliases for VAPB Gene

Aliases for VAPB Gene

  • VAMP (Vesicle-Associated Membrane Protein)-Associated Protein B And C 2 3 5
  • VAMP-Associated 33 KDa Protein 3
  • VAMP-Associated Protein B/C 4
  • VAMP-B/VAMP-C 4
  • VAP-B/VAP-C 4
  • VAMP-B 3
  • VAP-B 3
  • ALS8 3

External Ids for VAPB Gene

Previous GeneCards Identifiers for VAPB Gene

  • GC20P056692
  • GC20P057602
  • GC20P057649
  • GC20P056397
  • GC20P056964
  • GC20P053747

Summaries for VAPB Gene

Entrez Gene Summary for VAPB Gene

  • The protein encoded by this gene is a type IV membrane protein found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking. [provided by RefSeq, Jul 2008]

GeneCards Summary for VAPB Gene

VAPB (VAMP (Vesicle-Associated Membrane Protein)-Associated Protein B And C) is a Protein Coding gene. Diseases associated with VAPB include spinal muscular atrophy, late-onset, finkel type and amyotrophic lateral sclerosis 8. Among its related pathways are Metabolism and Sphingolipid metabolism. GO annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is VAPA.

UniProtKB/Swiss-Prot for VAPB Gene

  • Participates in the endoplasmic reticulum unfolded protein response (UPR) by inducing ERN1/IRE1 activity. Involved in cellular calcium homeostasis regulation.

Gene Wiki entry for VAPB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VAPB Gene

Genomics for VAPB Gene

Regulatory Elements for VAPB Gene

Enhancers for VAPB Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around VAPB on UCSC Golden Path with GeneCards custom track

Promoters for VAPB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around VAPB on UCSC Golden Path with GeneCards custom track

Genomic Location for VAPB Gene

Chromosome:
20
Start:
58,389,119 bp from pter
End:
58,451,101 bp from pter
Size:
61,983 bases
Orientation:
Plus strand

Genomic View for VAPB Gene

Genes around VAPB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for VAPB Gene

Proteins for VAPB Gene

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

    Protein Symbol:
    O95292-VAPB_HUMAN
    Recommended name:
    Vesicle-associated membrane protein-associated protein B/C
    Protein Accession:
    O95292
    Secondary Accessions:
    • A2A2F2
    • O95293
    • Q9P0H0

    Protein attributes for VAPB Gene

    Size:
    243 amino acids
    Molecular mass:
    27228 Da
    Quaternary structure:
    • Homodimer, and heterodimer with VAPA. Interacts with VAMP1 and VAMP2. Interacts with HCV NS5A and NS5B. Interacts (via MSP domain) with ZFYVE27. Interacts with RMDN3.

    Three dimensional structures from OCA and Proteopedia for VAPB Gene

    Alternative splice isoforms for VAPB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VAPB Gene

Proteomics data for VAPB Gene at MOPED

Post-translational modifications for VAPB Gene

  • Ubiquitination at Lys 155
  • Modification sites at PhosphoSitePlus

Other Protein References for VAPB Gene

Antibody Products

No data available for DME Specific Peptides for VAPB Gene

Domains & Families for VAPB Gene

Protein Domains for VAPB Gene

Graphical View of Domain Structure for InterPro Entry

O95292

UniProtKB/Swiss-Prot:

VAPB_HUMAN :
  • Contains 1 MSP domain.
  • Belongs to the VAMP-associated protein (VAP) (TC 9.B.17) family.
Domain:
  • Contains 1 MSP domain.
Family:
  • Belongs to the VAMP-associated protein (VAP) (TC 9.B.17) family.
genes like me logo Genes that share domains with VAPB: view

No data available for Gene Families for VAPB Gene

Function for VAPB Gene

Molecular function for VAPB Gene

UniProtKB/Swiss-Prot Function:
Participates in the endoplasmic reticulum unfolded protein response (UPR) by inducing ERN1/IRE1 activity. Involved in cellular calcium homeostasis regulation.

Gene Ontology (GO) - Molecular Function for VAPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008017 microtubule binding IDA 18713837
genes like me logo Genes that share ontologies with VAPB: view
genes like me logo Genes that share phenotypes with VAPB: view

Human Phenotype Ontology for VAPB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for VAPB Gene

MGI Knock Outs for VAPB:

Animal Model Products

  • Taconic Biosciences Mouse Models for VAPB

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for VAPB Gene

Localization for VAPB Gene

Subcellular locations from UniProtKB/Swiss-Prot for VAPB Gene

Endoplasmic reticulum membrane; Single-pass type IV membrane protein. Note=Present in mitochondria-associated membranes that are endoplasmic reticulum membrane regions closely apposed to the outer mitochondrial membrane. {ECO:0000269 PubMed:22131369}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for VAPB Gene COMPARTMENTS Subcellular localization image for VAPB gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
cytosol 3
mitochondrion 2
nucleus 2
cytoskeleton 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for VAPB Gene

Pathways & Interactions for VAPB Gene

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

Pathways by source for VAPB Gene

Gene Ontology (GO) - Biological Process for VAPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006987 activation of signaling protein activity involved in unfolded protein response IDA 20940299
GO:0019048 modulation by virus of host morphology or physiology IDA 16227268
GO:0030148 sphingolipid biosynthetic process TAS --
GO:0030968 endoplasmic reticulum unfolded protein response IEA,IMP 16891305
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with VAPB: view

No data available for SIGNOR curated interactions for VAPB Gene

Drugs & Compounds for VAPB Gene

No Compound Related Data Available

Transcripts for VAPB Gene

Unigene Clusters for VAPB Gene

VAMP (vesicle-associated membrane protein)-associated protein B and C:
Representative Sequences:

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9
SP1: - - -
SP2: - - -
SP3:
SP4: - - - -
SP5: - - - - - - -
SP6:

Relevant External Links for VAPB Gene

GeneLoc Exon Structure for
VAPB
ECgene alternative splicing isoforms for
VAPB

Expression for VAPB Gene

mRNA expression in normal human tissues for VAPB Gene

Protein differential expression in normal tissues from HIPED for VAPB Gene

This gene is overexpressed in Brain (6.6).

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



SOURCE GeneReport for Unigene cluster for VAPB Gene Hs.182625

mRNA Expression by UniProt/SwissProt for VAPB Gene

O95292-VAPB_HUMAN
Tissue specificity: Ubiquitous. Isoform 1 predominates.
genes like me logo Genes that share expression patterns with VAPB: view

Protein tissue co-expression partners for VAPB Gene

- Elite partner

Primer Products

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

Orthologs for VAPB Gene

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

Orthologs for VAPB Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia VAPB 35
  • 91.5 (n)
  • 95.88 (a)
VAPB 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VAPB 35
  • 92.59 (n)
  • 96.3 (a)
VAPB 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vapb 35
  • 87.52 (n)
  • 90.12 (a)
Vapb 16
Vapb 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia VAPB 35
  • 99.86 (n)
  • 100 (a)
VAPB 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vapb 35
  • 85.46 (n)
  • 88.48 (a)
oppossum
(Monodelphis domestica)
Mammalia VAPB 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VAPB 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves VAPB 35
  • 83.4 (n)
  • 87.24 (a)
VAPB 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VAPB 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76271 35
MGC76271 35
  • 74.34 (n)
  • 82.43 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.29271 35
zebrafish
(Danio rerio)
Actinopterygii vapb 35
  • 71.49 (n)
  • 75.21 (a)
wufa96d05 35
vapb 36
  • 75 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Vap-33-1 37
  • 56 (a)
Vap-33-1 35
  • 47.13 (n)
  • 40.52 (a)
fan 36
  • 23 (a)
ManyToMany
Vap-33-1 36
  • 34 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000626 35
  • 50.35 (n)
  • 41.84 (a)
worm
(Caenorhabditis elegans)
Secernentea F33D11.11 37
  • 36 (a)
vpr-1 35
  • 44.96 (n)
  • 36.13 (a)
vpr-1 36
  • 31 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SCS2 36
  • 19 (a)
ManyToMany
SCS22 36
  • 26 (a)
ManyToMany
Species with no ortholog for VAPB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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 VAPB Gene

ENSEMBL:
Gene Tree for VAPB (if available)
TreeFam:
Gene Tree for VAPB (if available)

Paralogs for VAPB Gene

Paralogs for VAPB Gene

(2) SIMAP similar genes for VAPB Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for VAPB Gene

genes like me logo Genes that share paralogs with VAPB: view

Variants for VAPB Gene

Sequence variations from dbSNP and Humsavar for VAPB Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs74315431 Amyotrophic lateral sclerosis 8 (ALS8), Spinal muscular atrophy, proximal, adult, autosomal dominant (SMAPAD) 58,418,318(+) TGAGG(C/T)CCAAC nc-transcript-variant, reference, missense
rs281875284 Amyotrophic lateral sclerosis 8 (ALS8) 58,418,289(+) GAAGA(C/T)TACAG nc-transcript-variant, reference, missense
rs7400 -- 58,445,500(-) ATAGT(C/G)AAACA nc-transcript-variant, utr-variant-3-prime
rs12512 -- 58,445,288(-) GACCT(A/G)GGCGC nc-transcript-variant, utr-variant-3-prime
rs1028544 -- 58,429,747(-) CTGCA(A/G)TTTAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834019 CNV Loss 17160897
esv2722621 CNV Deletion 23290073
nsv3428 CNV Loss 18451855

Variation tolerance for VAPB Gene

Residual Variation Intolerance Score: 46% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.96; 19.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VAPB Gene

HapMap Linkage Disequilibrium report
VAPB
Human Gene Mutation Database (HGMD)
VAPB

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

Disorders for VAPB Gene

MalaCards: The human disease database

(15) MalaCards diseases for VAPB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spinal muscular atrophy, late-onset, finkel type
  • spinal muscular atrophy, proximal, adult, autosomal dominant
amyotrophic lateral sclerosis 8
  • amyotrophic lateral sclerosis type 8
vapb-related amyotrophic lateral sclerosis
  • amyotrophic lateral sclerosis 8
adult-onset proximal spinal muscular atrophy, autosomal dominant
  • finkel disease
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
- elite association - COSMIC cancer census association via MalaCards
Search VAPB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

VAPB_HUMAN
  • Amyotrophic lateral sclerosis 8 (ALS8) [MIM:608627]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:15372378, ECO:0000269 PubMed:20940299}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinal muscular atrophy, proximal, adult, autosomal dominant (SMAPAD) [MIM:182980]: A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAPAD is characterized by proximal muscle weakness that begins in the lower limbs and then progresses to upper limbs, onset in late adulthood (after third decade) and a benign course. Most of the patients remain ambulatory 10 to 40 years after clinical onset. {ECO:0000269 PubMed:15372378}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for VAPB

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

No data available for Genatlas for VAPB Gene

Publications for VAPB Gene

  1. Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMP-associated) proteins. (PMID: 9920726) Nishimura Y. … Tanaka T. (Biochem. Biophys. Res. Commun. 1999) 2 3 4 67
  2. Novel splice variants of the amyotrophic lateral sclerosis-associated gene VAPB expressed in human tissues. (PMID: 20227395) Nachreiner T. … KrA1ttgen A. (Biochem. Biophys. Res. Commun. 2010) 3 23
  3. Human VAP-C negatively regulates hepatitis C virus propagation. (PMID: 19515777) Kukihara H. … Matsuura Y. (J. Virol. 2009) 3 23
  4. hVAPB, the causative gene of a heterogeneous group of motor neuron diseases in humans, is functionally interchangeable with its Drosophila homologue DVAP-33A at the neuromuscular junction. (PMID: 17947296) Chai A. … Pennetta G. (Hum. Mol. Genet. 2008) 3 23
  5. The amyotrophic lateral sclerosis 8 protein VAPB is cleaved, secreted, and acts as a ligand for Eph receptors. (PMID: 18555774) Tsuda H. … Bellen H.J. (Cell 2008) 3 23

Products for VAPB Gene

Sources for VAPB Gene

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