ATP6V1B2 (ATPase H+ transporting V1 subunit B2)

2017-10-01  

Identity

HGNC
ATP6V1B2
LOCATION
8p21.3
LOCUSID
526
ALIAS
ATP6B1B2,ATP6B2,DOOD,HO57,VATB,VPP3,Vma2,ZLS2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 526
MIM: 606939
HGNC: 854
Ensembl: ENSG00000147416

Variants:

dbSNP: 526
ClinVar: 526
TCGA: ENSG00000147416
COSMIC: ATP6V1B2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147416ENST00000276390P21281
ENSG00000147416ENST00000276390A0A140VK65
ENSG00000147416ENST00000519667H0YC04
ENSG00000147416ENST00000520830H0YAT8
ENSG00000147416ENST00000521442H0YC45
ENSG00000147416ENST00000523478E5RGH6

Expression (GTEx)

0
50
100
150
200
250
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
Oxidative phosphorylationKEGGko00190
mTOR signaling pathwayKEGGko04150
Vibrio cholerae infectionKEGGko05110
Epithelial cell signaling in Helicobacter pylori infectionKEGGko05120
Oxidative phosphorylationKEGGhsa00190
mTOR signaling pathwayKEGGhsa04150
Vibrio cholerae infectionKEGGhsa05110
Epithelial cell signaling in Helicobacter pylori infectionKEGGhsa05120
Metabolic pathwaysKEGGhsa01100
Collecting duct acid secretionKEGGko04966
Collecting duct acid secretionKEGGhsa04966
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Rheumatoid arthritisKEGGko05323
Rheumatoid arthritisKEGGhsa05323
Synaptic vesicle cycleKEGGko04721
Synaptic vesicle cycleKEGGhsa04721
V-type ATPase, eukaryotesKEGGhsa_M00160
V-type ATPase, eukaryotesKEGGM00160
ROS, RNS production in phagocytesREACTOMER-HSA-1222556
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Signal TransductionREACTOMER-HSA-162582
Signaling by Insulin receptorREACTOMER-HSA-74752
Insulin receptor recyclingREACTOMER-HSA-77387
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Iron uptake and transportREACTOMER-HSA-917937
Transferrin endocytosis and recyclingREACTOMER-HSA-917977
Ion channel transportREACTOMER-HSA-983712

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
257133632015Mutations in early follicular lymphoma progenitors are associated with suppressed antigen presentation.83
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
259155982015Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.45
203810702010Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia.22
249131932014De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.13
293108262018Changes in V-ATPase subunits of human urinary exosomes reflect the renal response to acute acid/alkali loading and the defects in distal renal tubular acidosis.9
278243602016Association of ATP6V1B2 rs1106634 with lifetime risk of depression and hippocampal neurocognitive deficits: possible novel mechanisms in the etiopathology of depression.3
307204632019Follicular lymphoma-associated mutations in vacuolar ATPase ATP6V1B2 activate autophagic flux and mTOR.2
312571462019A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability.2
308214272019Presence of serum autoantibodies to vacuolar H<sup>+</sup> -ATPase in patients with renal tubular acidosis.0

Citation

Dessen P

ATP6V1B2 (ATPase H+ transporting V1 subunit B2)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57086/atp6v1b2