Gene Gene information from NCBI Gene database.
Entrez ID 9217
Gene name VAMP associated protein B and C
Gene symbol VAPB
Synonyms (NCBI Gene)
ALS8VAMP-BVAP-B
Chromosome 20
Chromosome location 20q13.32
Summary 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.
2
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.
1206
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605704 12649 ENSG00000124164
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
737
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adult-onset proximal spinal muscular atrophy, autosomal dominant Pathogenic rs74315431 RCV002254542
Amyotrophic lateral sclerosis type 8 Pathogenic rs74315431, rs281875284 RCV000005073
RCV000023467
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs6070466 RCV005897470
Amyotrophic Lateral Sclerosis, Dominant Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity rs138225455, rs886056830, rs574681539, rs765965868, rs886056808, rs546898989, rs566283411, rs780911883, rs143261907, rs750250276, rs562701720, rs386815633, rs3069390, rs546553846, rs750324709
View all (2 more)
RCV000368563
RCV000295455
RCV000328737
RCV000308817
RCV000333178
RCV000375322
RCV000353224
RCV000355038
RCV000328637
RCV000400097
RCV000298656
RCV000260456
RCV000381968
RCV000353309
RCV000363767
RCV000362262
RCV000304828
RCV000276168
RCV000405957
RCV000338743
RCV000316542
Nonpapillary renal cell carcinoma Uncertain significance rs748371538 RCV005912423
Sarcoma Benign rs6070466 RCV005897471
Associations from Text MiningDisease 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