VMA21 (vacuolar ATPase assembly factor VMA21)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
203547
Gene name Gene Name - the full gene name approved by the HGNC.
Vacuolar ATPase assembly factor VMA21
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
VMA21
Synonyms (NCBI Gene) Gene synonyms aliases
MEAX, XMEA
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MEAX
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq28
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a chaperone for assembly of lysosomal vacuolar ATPase.[provided by RefSeq, Jul 2012]
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 29127204, 32296183
GO:0005764 Component Lysosome IDA
GO:0005773 Component Vacuole IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane IBA 21873635
GO:0012507 Component ER to Golgi transport vesicle membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300913 22082 ENSG00000160131
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Myopathy Myopathy rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166
View all (81 more)
Myopathy with excessive autophagy, x-linked X-linked myopathy with excessive autophagy rs797044909, rs878854352, rs878854353, rs878854354, rs878854355, rs878854356, rs1556035617, rs878854357 23315026, 19379691, 25809233
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Myopathy With Excessive Autophagy, X-Linked X-linked myopathy with excessive autophagy GenCC
Show/Hide Text Mining Associations (19)
Associations from Text Mining
Disease Name Relationship Type References
Cholestasis Associate 32145091
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 32145091
Fatty Liver Associate 32145091
Heart Diseases Associate 39973400
Hypercholesterolemia Associate 32145091
Hypertension Associate 39973400
Hypertrophy Left Ventricular Associate 39973400
Immunologic Deficiency Syndromes Associate 19379689
Kidney Diseases Associate 23850239
Liver Diseases Associate 32145091