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

  Ortholog (8)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA Inparanoid
Cow OMA Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid

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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