VMA22

Protein identityUniProt · HPA

UniProt accession

Q96NT0

Gene

VMA22

Ensembl

ENSG00000136710

Chromosome

2

Canonical length

180 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Vesicles,Plasma membrane

OverviewNCBI Gene

The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) vesicles in some human cells. The encoded protein shares some homology with the yeast V-ATPase assembly factor Vma22p, and the orthologous protein in mouse promotes cell proliferation and suppresses cell death. Defects in this gene are a cause of congenital disorder of glycosylation, type IIo in humans. [provided by RefSeq, Mar 2016]

Canonical amino-acid sequenceUniProt

180 residues, UniProt reviewed canonical sequence.

>Q96NT0|VMA22
     1  MAALDLRAEL DSLVLQLLGD LEELEGKRTV LNARVEEGWL SLAKARYAMG AKSVGPLQYA
    61  SHMEPQVCLH ASEAQEGLQK FKVVRAGVHA PEEVGPREAG LRRRKGPTKT PEPESSEAPQ
   121  DPLNWFGILV PHSLRQAQAS FRDGLQLAAD IASLQNRIDW GRSQLRGLQE KLKQLEPGAA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against VMA22 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

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.42

Highest tissue expression

40 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about VMA22.

Disease | AllUniProt

Conditions VMA22 is implicated in, by any mechanism.

• Congenital disorder of glycosylation 2O (CDG2O) MIM:616828

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 60 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• CCDC115-CDG
• Congenital disorders of glycosylation type II

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)

1.78

gnomAD pLI

0

DepMap mean gene effect

-0.69

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cellular response to increased oxygen levels
• intracellular iron ion homeostasis
• lysosomal lumen acidification
• lysosomal protein catabolic process
• vacuolar proton-transporting V-type ATPase complex assembly

Molecular functions

• unfolded protein binding

Cellular components

• COPI-coated vesicle
• endoplasmic reticulum
• endoplasmic reticulum-Golgi intermediate compartment
• endosome
• lysosome
• membrane
• vacuolar proton-transporting V-type ATPase complex

Protein domainsUniProt · Pfam · InterPro

• Vma22/CCDC115
• Vma22/CCDC115

KeywordsUniProt

• Coiled coil
• Congenital disorder of glycosylation
• Cytoplasmic vesicle
• Endoplasmic reticulum
• Endosome
• Lysosome

InteractionsUniProt · HPA

Protein binding partners of VMA22 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ATP6V0A2
• RARS1