VMA21 (vacuolar ATPase assembly factor VMA21)

2014-11-01  

Identity

HGNC
LOCATION
Xq28
LOCUSID
ALIAS
MEAX,XMEA
FUSION GENES

Other Information

Locus ID:

NCBI: 203547
MIM: 300913
HGNC: 22082
Ensembl: ENSG00000160131

Variants:

dbSNP: 203547
ClinVar: 203547
TCGA: ENSG00000160131
COSMIC: VMA21

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160131ENST00000330374Q3ZAQ7
ENSG00000160131ENST00000370361Q3ZAQ7

Expression (GTEx)

0
5
10
15
20
25
30

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
377566222023Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis.0
377566222023Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis.0
352875452022Follicular lymphoma-associated mutations in the V-ATPase chaperone VMA21 activate autophagy creating a targetable dependency.6
352875452022Follicular lymphoma-associated mutations in the V-ATPase chaperone VMA21 activate autophagy creating a targetable dependency.6
343508332021circ_VMA21 protects WI-38 cells against LPS-induced apoptotic and inflammatory injury by acting on the miR-409-3p/KLF4 axis.3
345075592021Hsa_circ_0001361 facilitates the progress of lung adenocarcinoma cells via targeting miR-525-5p/VMA21 axis.9
343508332021circ_VMA21 protects WI-38 cells against LPS-induced apoptotic and inflammatory injury by acting on the miR-409-3p/KLF4 axis.3
345075592021Hsa_circ_0001361 facilitates the progress of lung adenocarcinoma cells via targeting miR-525-5p/VMA21 axis.9
312978662020lncRNA ZFPM2-AS1 promotes proliferation via miR-18b-5p/VMA21 axis in lung adenocarcinoma.29
321450912020Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.24
325352492020Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families.2
312978662020lncRNA ZFPM2-AS1 promotes proliferation via miR-18b-5p/VMA21 axis in lung adenocarcinoma.29
321450912020Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.24
325352492020Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families.2
233150262013VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.66

Citation

Dessen P

VMA21 (vacuolar ATPase assembly factor VMA21)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75611/vma21-(vacuolar-atpase-assembly-factor-vma21)