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Aliases for VMA21 Gene

Aliases for VMA21 Gene

  • VMA21, Vacuolar ATPase Assembly Factor 2 3 5
  • Myopathy With Excessive Autophagy Protein 3 4
  • MEAX 3 4
  • XMEA 3 4
  • Vacuolar ATPase Assembly Integral Membrane Protein VMA21 3
  • VMA21 Vacuolar H+-ATPase Homolog (S. Cerevisiae) 2
  • Myopathy With Excessive Autophagy 2
  • VMA21 Vacuolar H+-ATPase Homolog 3

External Ids for VMA21 Gene

Previous HGNC Symbols for VMA21 Gene

  • MEAX

Previous GeneCards Identifiers for VMA21 Gene

  • GC0XP150315
  • GC0XP150564
  • GC0XP139424

Summaries for VMA21 Gene

Entrez Gene Summary for VMA21 Gene

  • This gene encodes a chaperone for assembly of lysosomal vacuolar ATPase.[provided by RefSeq, Jul 2012]

GeneCards Summary for VMA21 Gene

VMA21 (VMA21, Vacuolar ATPase Assembly Factor) is a Protein Coding gene. Diseases associated with VMA21 include Myopathy, X-Linked, With Excessive Autophagy and Danon Disease.

UniProtKB/Swiss-Prot for VMA21 Gene

  • Required for the assembly of the V0 complex of the vacuolar ATPase (V-ATPase) in the endoplasmic reticulum.

Additional gene information for VMA21 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VMA21 Gene

Genomics for VMA21 Gene

Regulatory Elements for VMA21 Gene

Enhancers for VMA21 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH151392 1.1 FANTOM5 ENCODE 5.3 -2.8 -2845 2.2 ZFP64 ZNF140 ZNF266 BMI1 ZNF697 ZNF433 ZNF202 RFX1 ZC3H11A REST VMA21 ENSG00000278724
GH0XH151395 1 ENCODE 5.8 +0.3 349 3.3 PKNOX1 ATF1 SIN3A ELK1 ZNF207 ATF7 SP3 REST ZNF518A ZNF592 VMA21 PIR62583
GH0XH151360 0.6 Ensembl 0.3 -36.2 -36215 0.2 CTCF ZNF654 SMC3 ZNF143 ZBTB8A RAD21 VMA21 ENSG00000278724
GH0XH151347 0.2 ENCODE 0.2 -49.4 -49412 0.2 VMA21 ENSG00000278724
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around VMA21 on UCSC Golden Path with GeneCards custom track

Promoters for VMA21 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000249454 885 2401 PKNOX1 ATF1 SIN3A ELK1 ZNF207 ATF7 REST ZNF518A ZNF592 KAT8

Genomic Locations for VMA21 Gene

Genomic Locations for VMA21 Gene
12,850 bases
Plus strand

Genomic View for VMA21 Gene

Genes around VMA21 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VMA21 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VMA21 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VMA21 Gene

Proteins for VMA21 Gene

  • Protein details for VMA21 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Vacuolar ATPase assembly integral membrane protein VMA21
    Protein Accession:
    Secondary Accessions:
    • A6NKV7
    • B3KUA9

    Protein attributes for VMA21 Gene

    101 amino acids
    Molecular mass:
    11354 Da
    Quaternary structure:
    • Associates with the V0 complex of the vacuolar ATPase (V-ATPase).

    Alternative splice isoforms for VMA21 Gene


neXtProt entry for VMA21 Gene

Post-translational modifications for VMA21 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for VMA21 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for VMA21 Gene

Domains & Families for VMA21 Gene

Gene Families for VMA21 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for VMA21 Gene


Suggested Antigen Peptide Sequences for VMA21 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the VMA21 family.
  • Belongs to the VMA21 family.
genes like me logo Genes that share domains with VMA21: view

Function for VMA21 Gene

Molecular function for VMA21 Gene

UniProtKB/Swiss-Prot Function:
Required for the assembly of the V0 complex of the vacuolar ATPase (V-ATPase) in the endoplasmic reticulum.

Phenotypes for VMA21 Gene

GenomeRNAi human phenotypes for VMA21:
genes like me logo Genes that share phenotypes with VMA21: view

Human Phenotype Ontology for VMA21 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for VMA21 Gene

miRTarBase miRNAs that target VMA21

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for VMA21 Gene

Localization for VMA21 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VMA21 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Multi-pass membrane protein. Cytoplasmic vesicle, COPII-coated vesicle membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for VMA21 gene
Compartment Confidence
endoplasmic reticulum 5
lysosome 4
plasma membrane 3

Gene Ontology (GO) - Cellular Components for VMA21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IDA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0012507 ER to Golgi transport vesicle membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with VMA21: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for VMA21 Gene

Pathways & Interactions for VMA21 Gene

SuperPathways for VMA21 Gene

No Data Available

Gene Ontology (GO) - Biological Process for VMA21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043462 regulation of ATPase activity TAS 25644398
GO:0070072 vacuolar proton-transporting V-type ATPase complex assembly TAS 25644398
genes like me logo Genes that share ontologies with VMA21: view

No data available for Pathways by source and SIGNOR curated interactions for VMA21 Gene

Drugs & Compounds for VMA21 Gene

No Compound Related Data Available

Transcripts for VMA21 Gene

Unigene Clusters for VMA21 Gene

VMA21 vacuolar H+-ATPase homolog (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for VMA21 Gene

No ASD Table

Relevant External Links for VMA21 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for VMA21 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for VMA21 Gene

Protein differential expression in normal tissues from HIPED for VMA21 Gene

This gene is overexpressed in Nasal epithelium (31.6), Breast (7.5), and Bone (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for VMA21 Gene

Protein tissue co-expression partners for VMA21 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of VMA21 Gene:


SOURCE GeneReport for Unigene cluster for VMA21 Gene:


Evidence on tissue expression from TISSUES for VMA21 Gene

  • Nervous system(3.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for VMA21 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
  • skeleton
  • femur
  • foot
  • hip
  • knee
  • lower limb
  • thigh
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with VMA21: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for VMA21 Gene

Orthologs for VMA21 Gene

This gene was present in the common ancestor of chordates.

Orthologs for VMA21 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia VMA21 33 34
  • 99.67 (n)
(Mus musculus)
Mammalia Vma21 34
  • 96 (a)
Vma21-ps 34
  • 93 (a)
(Bos Taurus)
Mammalia VMA21 33 34
  • 93.73 (n)
(Canis familiaris)
Mammalia VMA21 33 34
  • 92.41 (n)
(Ornithorhynchus anatinus)
Mammalia VMA21 34
  • 90 (a)
(Monodelphis domestica)
Mammalia VMA21 34
  • 83 (a)
(Gallus gallus)
Aves VMA21 34
  • 81 (a)
(Anolis carolinensis)
Reptilia VMA21 34
  • 82 (a)
(Danio rerio)
Actinopterygii VMA21 34
  • 67 (a)
Species where no ortholog for VMA21 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for VMA21 Gene

Gene Tree for VMA21 (if available)
Gene Tree for VMA21 (if available)

Paralogs for VMA21 Gene Pseudogenes for VMA21 Gene

genes like me logo Genes that share paralogs with VMA21: view

No data available for Paralogs for VMA21 Gene

Variants for VMA21 Gene

Sequence variations from dbSNP and Humsavar for VMA21 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs797044909 Pathogenic 151,403,744(+) AGGTA(A/G)TCTTA intron-variant
rs878854352 Pathogenic 151,403,604(+) TTCTG(A/C/T)TTTTC intron-variant
rs878854353 Pathogenic 151,404,909(+) TTCTC(G/T)TGATA intron-variant
rs878854354 Pathogenic 151,405,024(+) TGAAG(C/G)CTCAC reference, missense
rs878854355 Pathogenic 151,405,064(+) AGTGA(A/G)CATCA utr-variant-3-prime

Variation tolerance for VMA21 Gene

Residual Variation Intolerance Score: 65.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.32; 63.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VMA21 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for VMA21 Gene

Disorders for VMA21 Gene

MalaCards: The human disease database

(3) MalaCards diseases for VMA21 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
myopathy, x-linked, with excessive autophagy
  • x-linked myopathy with excessive autophagy
danon disease
  • antopol disease
  • muscular diseases
- elite association - COSMIC cancer census association via MalaCards
Search VMA21 in MalaCards View complete list of genes associated with diseases


  • Myopathy, X-linked, with excessive autophagy (MEAX) [MIM:310440]: A muscle disorder characterized by childhood early onset of a slowly progressive proximal limb muscle weakness (especially in legs) and elevation of serum creatine kinase, without evidence of cardiac, respiratory or central nervous system involvement. Histopathological analysis reveals diseased muscle fibers that are not necrotic, but show abnormal autophagic vacuolation as a manifestation of excessive autophagic activity in skeletal muscle cells. {ECO:0000269 PubMed:19379691, ECO:0000269 PubMed:23315026, ECO:0000269 PubMed:24488655, ECO:0000269 PubMed:25683699}. Note=The disease is caused by mutations affecting the gene represented in this entry. VMA21 deficiency results in an increase of lysosomal pH from 4.7 to 5.2, which reduces lysosomal degradative ability and blocks autophagy. This reduces cellular free amino acids, which upregulates the mTOR pathway and mTOR-dependent macroautophagy, resulting in proliferation of large and ineffective autolysosomes that engulf sections of cytoplasm, merge together, and vacuolate the cell. {ECO:0000269 PubMed:23315026}.

Relevant External Links for VMA21

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with VMA21: view

No data available for Genatlas for VMA21 Gene

Publications for VMA21 Gene

  1. VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. (PMID: 23315026) Ramachandran N … Minassian BA (Acta neuropathologica 2013) 3 4 60
  2. VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification. (PMID: 19379691) Ramachandran N … Minassian BA (Cell 2009) 2 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28. (PMID: 10757644) Villard L … Fontes M (European journal of human genetics : EJHG 2000) 2 3 60
  5. Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq. (PMID: 2892402) Saviranta P … de la Chapelle A (American journal of human genetics 1988) 2 3 60

Products for VMA21 Gene

Sources for VMA21 Gene

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