Gene Gene information from NCBI Gene database.
Entrez ID 203547
Gene name Vacuolar ATPase assembly factor VMA21
Gene symbol VMA21
Synonyms (NCBI Gene)
MEAXXMEA
Chromosome X
Chromosome location Xq28
Summary This gene encodes a chaperone for assembly of lysosomal vacuolar ATPase.[provided by RefSeq, Jul 2012]
SNPs SNP information provided by dbSNP.
8
SNP ID Visualize variation Clinical significance Consequence
rs797044909 A>G Pathogenic Intron variant
rs878854352 A>C,T Pathogenic Intron variant
rs878854353 T>G Pathogenic Intron variant
rs878854354 G>C Pathogenic Missense variant, coding sequence variant
rs878854355 A>G Likely-pathogenic 3 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
1411
miRTarBase ID miRNA Experiments Reference
MIRT019237 hsa-miR-331-3p Sequencing 20371350
MIRT028052 hsa-miR-93-5p Sequencing 20371350
MIRT031550 hsa-miR-16-5p Proteomics 18668040
MIRT043847 hsa-miR-330-3p CLASH 23622248
MIRT040777 hsa-miR-18a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 29127204, 32296183
GO:0005764 Component Lysosome IDA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300913 22082 ENSG00000160131
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q3ZAQ7
Protein name Vacuolar ATPase assembly integral membrane protein VMA21 (Myopathy with excessive autophagy protein)
Protein function Required for the assembly of the V0 complex of the vacuolar ATPase (V-ATPase) in the endoplasmic reticulum.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09446 VMA21 25 88 VMA21-like domain Domain
Sequence
Sequence length 101
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
X-linked myopathy with excessive autophagy Pathogenic; Likely pathogenic rs797044909, rs878854352, rs878854353, rs878854354, rs878854356, rs1556035617, rs878854357 RCV000190828
RCV000190827
RCV000190829
RCV000190830
RCV000190832
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
VMA21-related disorder Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31297866
★☆☆☆☆
Found in Text Mining only
Cholestasis Cholelithiasis Pubtator 32145091 Associate
★☆☆☆☆
Found in Text Mining only
Fatty Liver Fatty liver Pubtator 32145091 Associate
★☆☆☆☆
Found in Text Mining only
Glycogen Storage Disease Type IIb Glycogen Storage Disease BEFREE 25557463
★☆☆☆☆
Found in Text Mining only
Heart Diseases Heart disease Pubtator 39973400 Associate
★☆☆☆☆
Found in Text Mining only
Hypercholesterolemia Hypercholesterolemia Pubtator 32145091 Associate
★☆☆☆☆
Found in Text Mining only
Hypertension Hypertension Pubtator 39973400 Associate
★☆☆☆☆
Found in Text Mining only
Hypertrophy Left Ventricular Left ventricular disease Pubtator 39973400 Associate
★☆☆☆☆
Found in Text Mining only
Intervertebral Disc Degeneration Intervertebral Disc Degeneration BEFREE 29343508
★☆☆☆☆
Found in Text Mining only
Kidney Diseases Kidney disease Pubtator 23850239 Associate
★☆☆☆☆
Found in Text Mining only