PMM2

Protein identityUniProt · HPA

UniProt accession

O15305

Gene

PMM2

Ensembl

ENSG00000140650

Chromosome

16

Canonical length

246 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Microtubules,Primary cilium,Primary cilium tip,Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

246 residues, UniProt reviewed canonical sequence.

>O15305|PMM2
     1  MAAPGPALCL FDVDGTLTAP RQKITKEMDD FLQKLRQKIK IGVVGGSDFE KVQEQLGNDV
    61  VEKYDYVFPE NGLVAYKDGK LLCRQNIQSH LGEALIQDLI NYCLSYIAKI KLPKKRGTFI
   121  EFRNGMLNVS PIGRSCSQEE RIEFYELDKK ENIRQKFVAD LRKEFAGKGL TFSIGGQISF
   181  DVFPDGWDKR YCLRHVENDG YKTIYFFGDK TMPGGNDHEI FTDPRTMGYS VTAPEDTRRI
   241  CELLFS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PMM2 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)

0.26

Highest tissue expression

51 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PMM2.

Disease | AllUniProt

Conditions PMM2 is implicated in, by any mechanism.

• Congenital disorder of glycosylation 1A (CDG1A) MIM:212065

Disease | GeneticClinVar

235 pathogenic / likely-pathogenic of 859 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• PMM2-congenital disorder of glycosylation
• PMM2-related disorder
• Inborn genetic diseases
• Cerebellar ataxia
• Congenital cerebellar hypoplasia

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)

1.88

gnomAD pLI

0

gnomAD missense Z

-1.39

DepMap mean gene effect

-0.24

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

• GDP-D-mannose biosynthetic process from fructose-6-phosphate
• GDP-mannose biosynthetic process
• GDP-mannose biosynthetic process from mannose
• glycoprotein biosynthetic process
• mannose metabolic process
• protein N-linked glycosylation

Molecular functions

• metal ion binding
• phosphomannomutase activity

Cellular components

• ciliary tip
• cilium
• cytosol
• microtubule cytoskeleton
• neuronal cell body
• nucleoplasm

Protein domainsUniProt · Pfam · InterPro

• Phosphomannomutase
• HAD-superfamily hydrolase, subfamily IIB
• HAD superfamily
• HAD-like superfamily
• Phosphomannomutase, cap domain
• Eukaryotic phosphomannomutase

KeywordsUniProt

• Acetylation
• Congenital disorder of glycosylation
• Cytoplasm
• Isomerase
• Magnesium
• Metal-binding