Seroatlas · Human Serome Atlas

VMA21

Vacuolar ATPase assembly integral membrane protein VMA21

Also known as: MEAX, VMA21_HUMAN, XMEA

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q3ZAQ7
Gene: VMA21
Ensembl: ENSG00000160131
Chromosome: X
Canonical length: 101 aa
Protein class: Disease related genes, Human disease related genes, Predicted membrane proteins

OverviewNCBI Gene

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

Canonical amino-acid sequenceUniProt

101 residues, UniProt reviewed canonical sequence.

>Q3ZAQ7|VMA21
     1  MERPDKAALN ALQPPEFRNE SSLASTLKTL LFFTALMITV PIGLYFTTKS YIFEGALGMS
    61  NRDSYFYAAI VAVVAVHVVL ALFVYVAWNE GSRQWREGKQ D

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against VMA21 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 2
Mean surface accessibility (rSASA): 0.48
Highest tissue expression: 22 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 22 nTPM
hypothalamus: 19 nTPM
cerebral cortex: 17 nTPM
midbrain: 15 nTPM
retina: 15 nTPM
hippocampal formation: 14 nTPM

Single-cell type

kupffer cells: 169 nCPM
hofbauer cells: 161 nCPM
monocytes: 101 nCPM
monocyte progenitors: 97 nCPM
gastric progenitor cells: 87 nCPM
extravillous trophoblasts: 83 nCPM

Immune cell

intermediate monocyte: 14 nTPM
myeloid DC: 14 nTPM
non-classical monocyte: 13 nTPM
NK-cell: 13 nTPM
classical monocyte: 12 nTPM
plasmacytoid DC: 12 nTPM

Brain region

hypothalamus: 45 nTPM
midbrain: 40 nTPM
pons: 39 nTPM
medulla oblongata: 38 nTPM
spinal cord: 38 nTPM
white matter: 36 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about VMA21.

Disease | AllUniProt

Conditions VMA21 is implicated in, by any mechanism.

Myopathy, X-linked, with excessive autophagy (MEAX) MIM:310440

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 118 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

X-linked myopathy with excessive autophagy
Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.11
gnomAD pLI: 0.57
gnomAD missense Z: 0.78
DepMap mean gene effect: -0.36
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

Vacuolar ATPase assembly integral membrane protein Vma21
VMA21-like domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of VMA21 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads VMA21 as an antibody target. Whether an autoantibody or antibody against VMA21 could matter depends on whether native VMA21 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

VMA21 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label VMA21 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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