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] See more...

Aliases for VAPB Gene

Aliases for VAPB Gene

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

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 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 Statin Pathway and Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is VAPA.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VAPB Gene

Genomics for VAPB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for VAPB 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
GH20J058388 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 273.6 +1.0 1023 4.1 LARP7 ZNF207 MYC NCOR1 IKZF1 ZNF592 KLF9 POLR2A NFIC ZIC2 VAPB lnc-APCDD1L-5 STX16 NELFCD PPP4R1L ENSG00000225806 ENSG00000254419 ENSG00000268649 HMGB1P1 GNAS-AS1
GH20J058401 Enhancer 1.1 Ensembl ENCODE 35.9 +16.0 15989 14.8 BCLAF1 NCOR1 ZNF600 CEBPA CEBPB SIX4 HOMEZ ARNT PRDM1 MAFF VAPB NELFCD STX16 PPP4R1L RAB22A ANKRD60 GNAS-AS1 piR-36260-049 APCDD1L
GH20J058432 Enhancer 0.8 Ensembl ENCODE 37.2 +44.0 43989 3.2 JUND YY1 FOXA2 RXRA ZBTB33 RBM22 HNF4A FOXA1 ZNF664 RAD21 HSALNG0131252 VAPB NELFCD STX16 GNAS-AS1 lnc-APCDD1L-2 APCDD1L
GH20J058436 Enhancer 0.7 ENCODE 36.5 +48.4 48392 1.3 ATF3 YY1 HOMEZ FOXA2 RXRA SAP130 TEAD3 ZBTB33 JUND FOSL2 VAPB HSALNG0131252 lnc-RAB22A-2 APCDD1L
GH20J058439 Enhancer 0.8 Ensembl ENCODE 30.8 +50.6 50590 1.6 MAFF PAX8 ZNF316 RBM22 ESRRA SIN3A NFE2 MAFK ETV1 MAFG VAPB PPP4R1L RAB22A HSALNG0131252 lnc-RAB22A-2 APCDD1L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the VAPB gene promoter:
  • C/EBPalpha
  • Cart-1
  • Chx10
  • FOXO3
  • FOXO3a
  • FOXO3b
  • Pbx1a
  • SRY
  • TBP
  • ZIC2

Genomic Locations for VAPB Gene

Latest Assembly
chr20:58,389,211-58,451,101
(GRCh38/hg38)
Size:
61,891 bases
Orientation:
Plus strand

Previous Assembly
chr20:56,964,285-57,026,157
(GRCh37/hg19 by Entrez Gene)
Size:
61,873 bases
Orientation:
Plus strand

chr20:56,964,178-57,026,157
(GRCh37/hg19 by Ensembl)
Size:
61,980 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 (PubMed:20940299). Interacts with VAMP1 and VAMP2 (PubMed:9920726, PubMed:20940299). Interacts (via MSP domain) with ZFYVE27 (PubMed:21976701, PubMed:19289470). Interacts with RMDN3 (PubMed:22131369). Interacts with KIF5A in a ZFYVE27-dependent manner (PubMed:21976701). Interacts with STARD3 (via FFAT motif) (PubMed:24105263). Interacts with STARD3NL (via FFAT motif) (PubMed:24105263). Interacts with CERT1 (PubMed:16895911). Interacts with PLEKHA3 and SACM1L to form a ternary complex (PubMed:30659099). Interacts with VPS13A (via FFAT motif) (PubMed:30741634).
    • (Microbial infection) Interacts with HCV protein NS5A and NS5B.

    Three dimensional structures from OCA and Proteopedia for VAPB Gene

    Alternative splice isoforms for VAPB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VAPB Gene

Post-translational modifications for VAPB Gene

  • Ubiquitination at Lys155
  • Modification sites at PhosphoSitePlus

Other Protein References for VAPB Gene

No data available for DME Specific Peptides for VAPB Gene

Domains & Families for VAPB Gene

Gene Families for VAPB Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for VAPB Gene

InterPro:
Blocks:
  • Major sperm protein (MSP) domain

Suggested Antigen Peptide Sequences for VAPB Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ13179 fis, clone NT2RP3003918, highly similar to Vesicle-associated membrane protein-associated protein B/C (Q53XM7_HUMAN)
  • Vesicle-associated membrane protein-associated protein B/C (VAPB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95292

UniProtKB/Swiss-Prot:

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

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.

Phenotypes From GWAS Catalog for VAPB Gene

Gene Ontology (GO) - Molecular Function for VAPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9920726
GO:0008017 microtubule binding IDA 18713837
GO:0019899 enzyme binding IPI 17540579
GO:0033149 FFAT motif binding IPI 24105263
GO:0042803 protein homodimerization activity IPI 9920726
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:
  • Vapb Vapb<tm1.2Ics>

Animal Models for research

  • Taconic Biosciences Mouse Models for VAPB

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
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 VAPB gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 4
mitochondrion 3
cytosol 3
cytoskeleton 2
peroxisome 2
nucleus 2
endosome 2
lysosome 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for VAPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IDA 25468996
GO:0005783 endoplasmic reticulum IEA,IDA 15372378
GO:0005789 endoplasmic reticulum membrane IEA,TAS --
GO:0005794 Golgi apparatus IDA 16227268
genes like me logo Genes that share ontologies with VAPB: view

Pathways & Interactions for VAPB Gene

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

SIGNOR curated interactions for VAPB Gene

Is activated by:

Gene Ontology (GO) - Biological Process for VAPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006874 cellular calcium ion homeostasis IMP 22131369
GO:0006888 ER to Golgi vesicle-mediated transport IMP 18713837
GO:0006986 response to unfolded protein IEA --
GO:0007029 endoplasmic reticulum organization IMP 18713837
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with VAPB: view

Drugs & Compounds for VAPB Gene

No Compound Related Data Available

Transcripts for VAPB Gene

mRNA/cDNA for VAPB Gene

2 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
6 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 VAPB

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

Expression for VAPB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for VAPB Gene



Protein tissue co-expression partners for VAPB Gene

- Elite partner

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

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.

Evidence on tissue expression from TISSUES for VAPB Gene

  • Nervous system(4.9)
  • Liver(4.5)
  • Heart(4.5)
  • Blood(4.4)
  • Adrenal gland(4.4)
  • Kidney(3.4)
  • Muscle(2.9)
  • Lung(2.7)
  • Skin(2.5)
  • Intestine(2.3)
  • Pancreas(2.3)
  • Stomach(2.2)
  • Thyroid gland(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • epiglottis
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • bronchus
  • clavicle
  • esophagus
  • heart
  • lung
  • scapula
  • trachea
Abdomen:
  • biliary tract
  • liver
  • stomach
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with VAPB: view

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
Chimpanzee
(Pan troglodytes)
Mammalia VAPB 29 30
  • 99.86 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia VAPB 29 30
  • 92.59 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia VAPB 30
  • 92 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia VAPB 30
  • 92 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia VAPB 29 30
  • 91.5 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Vapb 29 16 30
  • 87.52 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Vapb 29
  • 85.46 (n)
Chicken
(Gallus gallus)
Aves VAPB 29 30
  • 83.4 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia VAPB 30
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia MGC76271 29 29
  • 74.34 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.29271 29
Zebrafish
(Danio rerio)
Actinopterygii vapb 29 30
  • 71.49 (n)
OneToOne
wufa96d05 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000626 29
  • 50.35 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Vap-33-1 29 30 31
  • 47.13 (n)
ManyToMany
fan 30
  • 23 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea vpr-1 29 30
  • 44.96 (n)
OneToMany
F33D11.11 31
  • 36 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SCS22 30
  • 26 (a)
ManyToMany
SCS2 30
  • 19 (a)
ManyToMany
Species where no ortholog for VAPB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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 VAPB Gene

ENSEMBL:
Gene Tree for VAPB (if available)
TreeFam:
Gene Tree for VAPB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VAPB: view image
Alliance of Genome Resources:
Additional Orthologs for VAPB

Paralogs for VAPB Gene

Paralogs for VAPB Gene

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

  • VAPB_HUMAN
  • E5RK64_HUMAN
  • Q53XM7_HUMAN

Pseudogenes.org Pseudogenes for VAPB Gene

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

Variants for VAPB Gene

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

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
1009230 Uncertain Significance: Amyotrophic lateral sclerosis type 8; Spinal muscular atrophy, late-onset, finkel type 58,440,931(+) A/G
NM_004738.5(VAPB):c.421A>G (p.Ile141Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
1015007 Uncertain Significance: Amyotrophic lateral sclerosis type 8; Spinal muscular atrophy, late-onset, finkel type 58,389,494(+) C/T
NM_004738.5(VAPB):c.35C>T (p.Pro12Leu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1042871 Uncertain Significance: Amyotrophic lateral sclerosis type 8; Spinal muscular atrophy, late-onset, finkel type 58,444,138(+) C/A
NM_004738.5(VAPB):c.635C>A (p.Ala212Asp)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1044550 Uncertain Significance: Amyotrophic lateral sclerosis type 8; Spinal muscular atrophy, late-onset, finkel type 58,441,028(+) G/A
NM_004738.5(VAPB):c.518G>A (p.Cys173Tyr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
1047783 Uncertain Significance: Amyotrophic lateral sclerosis type 8; Spinal muscular atrophy, late-onset, finkel type 58,444,125(+) A/G
NM_004738.5(VAPB):c.622A>G (p.Ile208Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

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

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

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

Variant ID Type Subtype PubMed ID
esv2722621 CNV deletion 23290073
nsv1118919 CNV deletion 24896259
nsv1160685 CNV deletion 26073780
nsv3428 CNV deletion 18451855
nsv834019 CNV loss 17160897

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)

Additional Variant Information for VAPB Gene

Human Gene Mutation Database (HGMD)
VAPB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VAPB
Leiden Open Variation Database (LOVD)
VAPB

SNP Genotyping and Copy Number Assays for research

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

Disorders for VAPB Gene

MalaCards: The human disease database

(32) MalaCards diseases for VAPB Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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:16891305, ECO:0000269 PubMed:20940299, ECO:0000269 PubMed:22131369}. Note=The disease is caused by variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for VAPB

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 VAPB: view

No data available for Genatlas for VAPB Gene

Publications for VAPB Gene

  1. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. (PMID: 15372378) Nishimura AL … Zatz M (American journal of human genetics 2004) 3 4 22 72
  2. VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis. (PMID: 22131369) De Vos KJ … Miller CC (Human molecular genetics 2012) 3 4 72
  3. Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis. (PMID: 20940299) Chen HJ … de Belleroche JS (The Journal of biological chemistry 2010) 3 4 72
  4. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. (PMID: 20577002) Millecamps S … Meininger V (Journal of medical genetics 2010) 3 40 72
  5. Motor neuron disease-associated mutant vesicle-associated membrane protein-associated protein (VAP) B recruits wild-type VAPs into endoplasmic reticulum-derived tubular aggregates. (PMID: 17804640) Teuling E … Hoogenraad CC (The Journal of neuroscience : the official journal of the Society for Neuroscience 2007) 3 22 72

Products for VAPB Gene

Sources for VAPB Gene