VAPB (VAMP associated protein B and C)

2013-03-01  

Identity

HGNC
VAPB
LOCATION
20q13.32
LOCUSID
9217
ALIAS
ALS8,VAMP-B,VAP-B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9217
MIM: 605704
HGNC: 12649
Ensembl: ENSG00000124164

Variants:

dbSNP: 9217
ClinVar: 9217
TCGA: ENSG00000124164
COSMIC: VAPB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124164ENST00000395802O95292
ENSG00000124164ENST00000475243O95292
ENSG00000124164ENST00000475243Q53XM7
ENSG00000124164ENST00000520497E5RK64

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Sphingolipid de novo biosynthesisREACTOMER-HSA-1660661

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
373811782024ARTC1-mediated VAPB ADP-ribosylation regulates calcium homeostasis.0
382675772024Motion of VAPB molecules reveals ER-mitochondria contact site subdomains.3
383959652024Stimulating VAPB-PTPIP51 ER-mitochondria tethering corrects FTD/ALS mutant TDP43 linked Ca(2+) and synaptic defects.1
386052782024Phosphorylation of ELYS promotes its interaction with VAPB at decondensing chromosomes during mitosis.1
373811782024ARTC1-mediated VAPB ADP-ribosylation regulates calcium homeostasis.0
382675772024Motion of VAPB molecules reveals ER-mitochondria contact site subdomains.3
383959652024Stimulating VAPB-PTPIP51 ER-mitochondria tethering corrects FTD/ALS mutant TDP43 linked Ca(2+) and synaptic defects.1
386052782024Phosphorylation of ELYS promotes its interaction with VAPB at decondensing chromosomes during mitosis.1
375091822023Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPB(P56S).0
379456952023Neurodegeneration-associated protein VAPB regulates proliferation in medulloblastoma.1
375091822023Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPB(P56S).0
379456952023Neurodegeneration-associated protein VAPB regulates proliferation in medulloblastoma.1
328183832022lncRNA DANCR Promotes Proliferation and Metastasis of Breast Cancer Cells Through Sponging miR-4319 and Upregulating VAPB.10
350199372022Regulating peroxisome-ER contacts via the ACBD5-VAPB tether by FFAT motif phosphorylation and GSK3β.18
359509592022Alteration of Vesicle-Associated Membrane Protein-Binding Protein B in α-Synuclein Aggregates in Lewy Body Disease.0

Citation

Dessen P

VAPB (VAMP associated protein B and C)

Atlas Genet Cytogenet Oncol Haematol. 2013-03-01

Online version: http://atlasgeneticsoncology.org/gene/53207