VMA21 (vacuolar ATPase assembly factor VMA21)

2014-11-01  

Identity

HGNC
VMA21
LOCATION
Xq28
LOCUSID
203547
ALIAS
MEAX,XMEA
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
233150262013VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.43
238502392013Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy.3

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