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 3.2e-06
pancreatic cancer 1.200 9.6e-04
astrocytic glioma -1.700 6.0e-03
ependymoma -1.600 1.4e-02
glioblastoma multiforme -1.100 6.0e-18
oligodendroglioma -1.200 4.8e-16
atypical teratoid / rhabdoid tumor -1.500 1.8e-07
sonic hedgehog group medulloblastoma -1.300 2.9e-04
primitive neuroectodermal tumor -1.300 7.4e-06
lung cancer -1.100 4.0e-02
pancreatic carcinoma 1.200 9.6e-04
Pick disease -1.400 3.6e-03
ovarian cancer -1.800 1.4e-09

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.
20381070 2010 Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20038947 2011 Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies.
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17897319 2007 Integral and associated lysosomal membrane proteins.
17662945 2007 Coupling of rotation and catalysis in F(1)-ATPase revealed by single-molecule imaging and manipulation.
17081065 2006 Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14597263 2003 Neurotransmitter release: the dark side of the vacuolar-H+ATPase.
14580332 2003 Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes.
12788495 2003 Proton translocation driven by ATP hydrolysis in V-ATPases.
12670943 2003 Subunit rotation of vacuolar-type proton pumping ATPase: relative rotation of the G and C subunits.
12643545 Proteomic analysis of early melanosomes: identification of novel melanosomal proteins.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11836511 2002 The vacuolar (H+)-ATPases--nature's most versatile proton pumps.
10440860 1999 Animal plasma membrane energization by proton-motive V-ATPases.
10340843 1999 Introduction: V-ATPases 1992-1998.
10224039 1999 Structure and properties of the vacuolar (H+)-ATPases.
10221984 1999 Vacuolar and plasma membrane proton-adenosinetriphosphatases.
9442887 1997 Structure, function and regulation of the vacuolar (H+)-ATPase.
9210392 1997 The vacuolar H+-ATPase: a universal proton pump of eukaryotes.
7945239 1994 Heterogeneity of vacuolar H(+)-ATPase: differential expression of two human subunit B isoforms.
7706273 1995 Transcriptional regulation of the vacuolar H(+)-ATPase B2 subunit gene in differentiating THP-1 cells.
2874839 1986 Receptor-mediated endocytosis: the intracellular journey of transferrin and its receptor.
2145275 1990 An mRNA from human brain encodes an isoform of the B subunit of the vacuolar H(+)-ATPase.
1373501 1992 Selectively amplified expression of an isoform of the vacuolar H(+)-ATPase 56-kilodalton subunit in renal intercalated cells.