Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9217
Gene name Gene Name - the full gene name approved by the HGNC.
VAMP associated protein B and C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
VAPB
Synonyms (NCBI Gene) Gene synonyms aliases
ALS8, VAMP-B, VAP-B
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.32
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs74315431 C>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs281875284 C>T Pathogenic, not-provided Coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT050461 hsa-miR-22-3p CLASH 23622248
MIRT043683 hsa-miR-342-3p CLASH 23622248
MIRT043365 hsa-miR-331-3p CLASH 23622248
MIRT042809 hsa-miR-339-5p CLASH 23622248
MIRT042170 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 9920726, 16227268, 18160438, 18555774, 19289470, 19515777, 19615732, 21976701, 22131369, 23736259, 25616068, 25910212, 26496610, 26618866, 28377464, 28514442, 29858488, 30659099, 30741634, 31515488, 32296183, 32344433, 32814053, 33124732, 33961781, 35156780, 35271311, 36012204
GO:0005737 Component Cytoplasm IDA 25468996
GO:0005783 Component Endoplasmic reticulum IDA 15372378, 16891305, 18713837
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605704 12649 ENSG00000124164
Protein
UniProt ID O95292
Protein name Vesicle-associated membrane protein-associated protein B/C (VAMP-B/VAMP-C) (VAMP-associated protein B/C) (VAP-B/VAP-C)
Protein function Endoplasmic reticulum (ER)-anchored protein that mediates the formation of contact sites between the ER and endosomes via interaction with FFAT motif-containing proteins such as STARD3 or WDR44 (PubMed:32344433, PubMed:33124732). Interacts with
PDB 2MDK , 3IKK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00635 Motile_Sperm 7 113 MSP (Major sperm protein) domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Isoform 1 predominates.
Sequence
MAKVEQVLSLEPQHELKFRGPFTDVVTTNLKLGNPTDRNVCFKVKTTAPRRYCVRPNSGI
IDAGASINVSVMLQPFDYDPNEKSKHKFMVQSMFAPTDTSDMEAVWKEAKPED
LMDSKLR
CVFELPAENDKPHDVEINKIISTTASKTETPIVSKSLSSSLDDTEVKKVMEECKRLQGEV
QRLREENKQFKEEDGLRMRKTVQSNSPISALAPTGKEEGLSTRLLALVVLFFIVGVIIGK
IAL
Sequence length 243
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cholesterol metabolism
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases
  Sphingolipid de novo biosynthesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis, Dominant, amyotrophic lateral sclerosis type 8 N/A N/A ClinVar, GenCC
Cervical Cancer Cervical cancer N/A N/A GWAS
Spinal Muscular Atrophy adult-onset proximal spinal muscular atrophy, autosomal dominant N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 15372378, 16729899, 20207736, 20577002, 21685205, 22245675, 22878164, 23755159, 23881933, 24885147, 25409455, 30143980, 31077962, 31936602, 34948065
View all (2 more)
Amyotrophic lateral sclerosis 1 Associate 16729899, 20577002, 26186194, 31936602, 33972508
Amyotrophic lateral sclerosis 1 Stimulate 33972508
Amyotrophic Lateral Sclerosis 8 Associate 31936602, 34948065, 36722478
Breast Neoplasms Associate 21247443
Genetic Diseases Inborn Associate 24212516
Liver Neoplasms Associate 25409455, 40650266
Motor Neuron Disease Associate 20207736, 24212516
Muscular Atrophy Spinal Stimulate 15372378, 33972508
Muscular Atrophy Spinal Associate 24212516, 33972508, 34133501