Property Summary

NCBI Gene PubMed Count 15
Grant Count 7
R01 Count 7
Funding $468,666.15
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 0.007
glioblastoma 1.200 0.006
group 4 medulloblastoma 1.700 0.000
medulloblastoma, large-cell 1.200 0.005
acute quadriplegic myopathy 1.135 0.000
pediatric high grade glioma 1.100 0.002
inflammatory breast cancer 1.200 0.000
ovarian cancer -1.700 0.000

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.
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