VMA12

Protein identityUniProt · HPA

UniProt accession

Q8N511

Gene

VMA12

Ensembl

ENSG00000244045

Chromosome

17

Canonical length

208 aa

Protein class

Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

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) in some human cells. The encoded protein shares some homology with the yeast protein Vma12. Defects in this gene are a cause of congenital disorder of glycosylation, type IIp. [provided by RefSeq, Mar 2016]

Canonical amino-acid sequenceUniProt

208 residues, UniProt reviewed canonical sequence.

>Q8N511|VMA12
     1  MASSLLAGER LVRALGPGGE LEPERLPRKL RAELEAALGK KHKGGDSSSG PQRLVSFRLI
    61  RDLHQHLRER DSKLYLHELL EGSEIYLPEV VKPPRNPELV ARLEKIKIQL ANEEYKRITR
   121  NVTCQDTRHG GTLSDLGKQV RSLKALVITI FNFIVTVVAA FVCTYLGSQY IFTEMASRVL
   181  AALIVASVVG LAELYVMVRA MEGELGEL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against VMA12 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)

0.43

Highest tissue expression

15 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about VMA12.

Disease | AllUniProt

Conditions VMA12 is implicated in, by any mechanism.

• Congenital disorder of glycosylation 2P (CDG2P) MIM:616829

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 84 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• TMEM199-CDG
• Congenital disorders of glycosylation type II
• TMEM199-related disorder

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)

1.46

gnomAD pLI

0

DepMap mean gene effect

-0.51

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% 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

• oxysterol binding

Cellular components

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

Protein domainsUniProt · Pfam · InterPro

• ATPase, vacuolar ER assembly factor, Vma12
• Endoplasmic reticulum-based factor for assembly of V-ATPase

KeywordsUniProt

• Acetylation
• Congenital disorder of glycosylation
• Cytoplasmic vesicle
• Endoplasmic reticulum
• Membrane
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of VMA12 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ATP6V0A2
• STX4