Property Summary

NCBI Gene PubMed Count 15
PubMed Score 1.00
PubTator Score 21.58

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
oligodendroglioma 1.600 6.6e-03
glioblastoma 1.200 6.5e-03
group 4 medulloblastoma 1.700 9.3e-06
medulloblastoma, large-cell 1.200 5.2e-03
acute quadriplegic myopathy 1.135 8.2e-05
pediatric high grade glioma 1.100 1.6e-03
inflammatory breast cancer 1.200 3.8e-04
ovarian cancer -1.700 9.6e-07

Gene RIF (2)

PMID Text
23850239 A Japanese family afflicted by X-linked myopathy with excessive autophagy displayed high urinary beta2 microglobulin without renal dysfunction. Decreased urine acidification in the distal convoluted tubules might be caused by the VMA21 gene mutation.
23315026 This study showed that LOC203547 is the human ortholog of Vma21p, and that hypomorphic mutations of the VMA21 gene disrupt autophagy and cause -linked Myopathy with Excessive Autophagy.

AA Sequence

MERPDKAALNALQPPEFRNESSLASTLKTLLFFTALMITVPIGLYFTTKSYIFEGALGMSNRDSYFYAAI      1 - 70
VAVVAVHVVLALFVYVAWNEGSRQWREGKQD                                            71 - 101
//

Text Mined References (22)

PMID Year Title
25683699 2015 Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy.
25644398 2015 X-linked myopathy with excessive autophagy: a failure of self-eating.
24488655 2014 Late adult-onset of X-linked myopathy with excessive autophagy.
23850239 2013 Elevated urinary ?2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy.
23315026 2013 VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.
21269460 2011 Initial characterization of the human central proteome.
20873370 2010 Retraction notice to: VMA21 Deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification.
20616343 2010 Impaired autophagy in sporadic inclusion-body myositis and in endoplasmic reticulum stress-provoked cultured human muscle fibers.
19379691 2009 VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification.
19379689 2009 VMA21 deficiency: a case of myocyte indigestion.
16381901 2006 The LIFEdb database in 2006.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15977643 2005 Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies.
15772651 2005 The DNA sequence of the human X chromosome.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
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.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11076863 2000 DNA cloning using in vitro site-specific recombination.
10805342 2000 X-linked vacuolar myopathies: two separate loci and refined genetic mapping.
10757644 2000 Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28.
2892402 1988 Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq.