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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Adult-onset proximal spinal muscular atrophy, autosomal dominant Pathogenic rs74315431 RCV002254542
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis type 8 Pathogenic rs74315431, rs281875284 RCV000005073
RCV000023467
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 8 CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Dominant Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 15372378, 16187141, 16891305, 17804640, 18263603, 18322265, 18555774, 18759352, 20207736, 20227395, 20577002, 21144830, 21685205, 21998752, 22105541
View all (14 more)
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 15372378, 16729899, 20207736, 20577002, 21685205, 22245675, 22878164, 23755159, 23881933, 24885147, 25409455, 30143980, 31077962, 31936602, 34948065
View all (2 more)
Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis LHGDN 18322265
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis ORPHANET_DG 23941283
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis HPO_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis 1 Amyotrophic lateral sclerosis Pubtator 16729899, 20577002, 26186194, 31936602, 33972508 Associate
★☆☆☆☆
Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1 Lateral Sclerosis BEFREE 19183264, 27978769
★☆☆☆☆
Found in Text Mining only
Amyotrophic lateral sclerosis 1 Amyotrophic lateral sclerosis Pubtator 33972508 Stimulate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis 8 Amyotrophic lateral sclerosis Pubtator 31936602, 34948065, 36722478 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations