Property Summary

NCBI Gene PubMed Count 37
PubMed Score 23.21
PubTator Score 10.89

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
hepatocellular carcinoma 1.300 0.000
pancreatic cancer 1.200 0.001
astrocytic glioma -1.700 0.006
ependymoma -1.600 0.014
glioblastoma multiforme -1.100 0.000
oligodendroglioma -1.200 0.000
atypical teratoid / rhabdoid tumor -1.500 0.000
sonic hedgehog group medulloblastoma -1.300 0.000
primitive neuroectodermal tumor -1.300 0.000
lung cancer -1.100 0.040
pancreatic carcinoma 1.200 0.001
Pick disease -1.400 0.004
ovarian cancer -1.800 0.000

Synonym

Accession P21281 B2R5Z3 D3DSQ5 Q14544 Q15859 Q96IR0 V-ATPase subunit B 2
Symbols DOOD
HO57
VATB
VPP3
Vma2
ZLS2
ATP6B2
ATP6B1B2

Gene

Gene RIF (5)

PMID Text
25915598 A missense mutation in ATP6V1B2 associated with Zimmermann-Laband syndrome.
24913193 The ATP6V1B2 p.Arg506X is a haploinsufficient mutation and resulted in abnormal acidification in lysosomes.
23874603 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 (ATP6V1B2) expression by HIV-1 Vpr in Vpr transduced macrophages
20381070 This protein has been found differentially expressed in the anterior cingulate cortex from patients with schizophrenia
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence

MALRAMRGIVNGAAPELPVPTGGPAVGAREQALAVSRNYLSQPRLTYKTVSGVNGPLVILDHVKFPRYAE      1 - 70
IVHLTLPDGTKRSGQVLEVSGSKAVVQVFEGTSGIDAKKTSCEFTGDILRTPVSEDMLGRVFNGSGKPID     71 - 140
RGPVVLAEDFLDIMGQPINPQCRIYPEEMIQTGISAIDGMNSIARGQKIPIFSAAGLPHNEIAAQICRQA    141 - 210
GLVKKSKDVVDYSEENFAIVFAAMGVNMETARFFKSDFEENGSMDNVCLFLNLANDPTIERIITPRLALT    211 - 280
TAEFLAYQCEKHVLVILTDMSSYAEALREVSAAREEVPGRRGFPGYMYTDLATIYERAGRVEGRNGSITQ    281 - 350
IPILTMPNDDITHPIPDLTGYITEGQIYVDRQLHNRQIYPPINVLPSLSRLMKSAIGEGMTRKDHADVSN    351 - 420
QLYACYAIGKDVQAMKAVVGEEALTSDDLLYLEFLQKFERNFIAQGPYENRTVFETLDIGWQLLRIFPKE    421 - 490
MLKRIPQSTLSEFYPRDSAKH                                                     491 - 511
//

Text Mined References (39)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25915598 2015 Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
25416956 2014 A proteome-scale map of the human interactome network.
24913193 2014 De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.
23620142 2013 Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22982048 2012 Lipofuscin is formed independently of macroautophagy and lysosomal activity in stress-induced prematurely senescent human fibroblasts.
21269460 2011 Initial characterization of the human central proteome.
20889312 2010 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
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