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Aliases for PMM2 Gene

Aliases for PMM2 Gene

  • Phosphomannomutase 2 2 3 5
  • Mannose-6-Phosphate Isomerase 2 3
  • Phosphomannose Isomerase 1 2 3
  • EC 5.4.2.8 4 63
  • PMM 2 3 4
  • CDG1a 3
  • PMI1 3
  • CDGS 3
  • CDG1 3
  • PMI 3

External Ids for PMM2 Gene

Previous HGNC Symbols for PMM2 Gene

  • CDG1

Previous GeneCards Identifiers for PMM2 Gene

  • GC16P008695
  • GC16P008991
  • GC16P008858
  • GC16P008799
  • GC16P008885

Summaries for PMM2 Gene

Entrez Gene Summary for PMM2 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]

GeneCards Summary for PMM2 Gene

PMM2 (Phosphomannomutase 2) is a Protein Coding gene. Diseases associated with PMM2 include congenital disorder of glycosylation, type ia and perrault syndrome 5. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. GO annotations related to this gene include phosphomannomutase activity. An important paralog of this gene is PMM1.

UniProtKB/Swiss-Prot for PMM2 Gene

  • Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.

Gene Wiki entry for PMM2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PMM2 Gene

Genomics for PMM2 Gene

Regulatory Elements for PMM2 Gene

Genomic Location for PMM2 Gene

Chromosome:
16
Start:
8,788,823 bp from pter
End:
8,855,197 bp from pter
Size:
66,375 bases
Orientation:
Plus strand

Genomic View for PMM2 Gene

Genes around PMM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PMM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PMM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PMM2 Gene

Proteins for PMM2 Gene

  • Protein details for PMM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15305-PMM2_HUMAN
    Recommended name:
    Phosphomannomutase 2
    Protein Accession:
    O15305
    Secondary Accessions:
    • A8K672
    • B7Z6R0
    • D3DUF3

    Protein attributes for PMM2 Gene

    Size:
    246 amino acids
    Molecular mass:
    28082 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for PMM2 Gene

    Alternative splice isoforms for PMM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PMM2 Gene

Proteomics data for PMM2 Gene at MOPED

Post-translational modifications for PMM2 Gene

  • Ubiquitination at Lys 202
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for PMM2 Gene

Gene Families for PMM2 Gene

Protein Domains for PMM2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O15305

UniProtKB/Swiss-Prot:

PMM2_HUMAN :
  • Belongs to the eukaryotic PMM family.
Family:
  • Belongs to the eukaryotic PMM family.
genes like me logo Genes that share domains with PMM2: view

Function for PMM2 Gene

Molecular function for PMM2 Gene

GENATLAS Biochemistry:
phosphomannomutase type 2,catalyzing the second step in the conversion of fructose-6P to GDP-mannose,expressed in liver,heart,pancreas,weakly in brain,involved in the glycosylation of glycoconjugates
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=16 uM for alpha-D-mannose 1-phosphate {ECO:0000269 PubMed:16540464}; KM=13.5 uM for alpha-D-glucose 1-phosphate {ECO:0000269 PubMed:16540464};
UniProtKB/Swiss-Prot CatalyticActivity:
Alpha-D-mannose 1-phosphate = D-mannose 6-phosphate.
UniProtKB/Swiss-Prot Function:
Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.

Enzyme Numbers (IUBMB) for PMM2 Gene

genes like me logo Genes that share phenotypes with PMM2: view

Human Phenotype Ontology for PMM2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PMM2 Gene

MGI Knock Outs for PMM2:

Animal Model Products

miRNA for PMM2 Gene

miRTarBase miRNAs that target PMM2

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for PMM2 Gene

Localization for PMM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PMM2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PMM2 Gene COMPARTMENTS Subcellular localization image for PMM2 gene
Compartment Confidence
cytosol 5
extracellular 5
endoplasmic reticulum 2
golgi apparatus 2
nucleus 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PMM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with PMM2: view

Pathways & Interactions for PMM2 Gene

genes like me logo Genes that share pathways with PMM2: view

UniProtKB/Swiss-Prot O15305-PMM2_HUMAN

  • Pathway: Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6-phosphate: step 2/2.

Gene Ontology (GO) - Biological Process for PMM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation TAS 9140401
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0008152 metabolic process IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with PMM2: view

No data available for SIGNOR curated interactions for PMM2 Gene

Drugs & Compounds for PMM2 Gene

(2) Drugs for PMM2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Alpha-D-Glucose 1,6-bisphosphate Experimental Pharma 0
D-Mannose 1-phosphate Experimental Pharma 0

(3) Additional Compounds for PMM2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Mannose 6-phosphate
  • alpha-D-Mannose-6-P
  • alpha-D-Mannose-6-phosphate
  • alpha-delta-Mannose-6-P
  • alpha-delta-Mannose-6-phosphate
  • D-Mannose 6-phosphate
3672-15-9
genes like me logo Genes that share compounds with PMM2: view

Transcripts for PMM2 Gene

Unigene Clusters for PMM2 Gene

Phosphomannomutase 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PMM2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - -
SP6: -
SP7: -
SP8:
SP9: - -
SP10:

Relevant External Links for PMM2 Gene

GeneLoc Exon Structure for
PMM2
ECgene alternative splicing isoforms for
PMM2

Expression for PMM2 Gene

mRNA expression in normal human tissues for PMM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PMM2 Gene

This gene is overexpressed in Oral epithelium (7.9) and Salivary gland (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PMM2 Gene



SOURCE GeneReport for Unigene cluster for PMM2 Gene Hs.625732

genes like me logo Genes that share expression patterns with PMM2: view

Protein tissue co-expression partners for PMM2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PMM2 Gene

Orthologs for PMM2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PMM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PMM2 36
  • 99 (a)
OneToOne
PMM2 35
  • 94.35 (n)
  • 93.22 (a)
cow
(Bos Taurus)
Mammalia PMM2 36
  • 93 (a)
OneToOne
PMM2 35
  • 87.62 (n)
  • 93.47 (a)
dog
(Canis familiaris)
Mammalia PMM2 35
  • 89.43 (n)
  • 93.9 (a)
PMM2 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pmm2 16
Pmm2 36
  • 90 (a)
OneToOne
Pmm2 35
  • 87.87 (n)
  • 91.63 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 87 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia PMM2 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pmm2 35
  • 88.01 (n)
  • 93.72 (a)
chicken
(Gallus gallus)
Aves PMM2 35
  • 77.28 (n)
  • 85.31 (a)
PMM2 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PMM2 36
  • 78 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.27399 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pmm1 35
  • 72.98 (n)
  • 74.9 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8332 35
zebrafish
(Danio rerio)
Actinopterygii pmm2 36
  • 68 (a)
OneToOne
pmm2 35
  • 70.14 (n)
  • 72.92 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011353 35
  • 59.35 (n)
  • 59.49 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10688 35
  • 59.08 (n)
  • 56.22 (a)
CG10688 36
  • 51 (a)
OneToMany
CG10688 37
  • 55 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_F52B11.2 35
  • 57.95 (n)
  • 56.43 (a)
F52B11.2 37
  • 50 (a)
F52B11.2 36
  • 53 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR236W 35
  • 53.97 (n)
  • 56.9 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC53 36
  • 56 (a)
OneToMany
SEC53 38
SEC53 35
  • 57.22 (n)
  • 59.58 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D05709g 35
  • 56.62 (n)
  • 59.41 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6965 35
soybean
(Glycine max)
eudicotyledons Gma.3992 35
thale cress
(Arabidopsis thaliana)
eudicotyledons PMM 35
  • 60.91 (n)
  • 61.73 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.3523 35
corn
(Zea mays)
Liliopsida Zm.7133 35
rice
(Oryza sativa)
Liliopsida Os.8518 35
Os04g0682300 35
  • 59.67 (n)
  • 60.49 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.29895 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02829 35
  • 55.56 (n)
  • 57.72 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pmm1 35
  • 58.58 (n)
  • 60 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3780 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 63 (a)
OneToMany
Species with no ortholog for PMM2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PMM2 Gene

ENSEMBL:
Gene Tree for PMM2 (if available)
TreeFam:
Gene Tree for PMM2 (if available)

Paralogs for PMM2 Gene

Paralogs for PMM2 Gene

Pseudogenes.org Pseudogenes for PMM2 Gene

genes like me logo Genes that share paralogs with PMM2: view

Variants for PMM2 Gene

Sequence variations from dbSNP and Humsavar for PMM2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
VAR_006093 Congenital disorder of glycosylation 1A (CDG1A)
VAR_006094 Congenital disorder of glycosylation 1A (CDG1A)
VAR_006095 Congenital disorder of glycosylation 1A (CDG1A)
VAR_006096 Congenital disorder of glycosylation 1A (CDG1A)
VAR_006097 Congenital disorder of glycosylation 1A (CDG1A)

Structural Variations from Database of Genomic Variants (DGV) for PMM2 Gene

Variant ID Type Subtype PubMed ID
nsv905307 CNV Gain 21882294
nsv457394 CNV Gain 19166990
dgv341n27 CNV Gain 19166990
dgv2597n71 CNV Gain 21882294
dgv2598n71 CNV Gain 21882294
nsv457398 CNV Gain 19166990
nsv905311 CNV Gain 21882294
nsv905320 CNV Gain 21882294
esv271413 CNV Insertion 20981092
esv1354772 CNV Insertion 17803354
nsv521109 CNV Loss 19592680
esv24810 CNV Loss 19812545
esv27013 CNV Gain 19812545
nsv905321 CNV Gain 21882294
nsv833135 CNV Loss 17160897

Variation tolerance for PMM2 Gene

Residual Variation Intolerance Score: 72.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.64; 45.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PMM2 Gene

HapMap Linkage Disequilibrium report
PMM2
Human Gene Mutation Database (HGMD)
PMM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PMM2 Gene

Disorders for PMM2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for PMM2 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type ia
  • carbohydrate-deficient glycoprotein syndrome type ia
perrault syndrome 5
  • prlts5
shaheen syndrome
  • shns
congenital disorder of glycosylation, type in
  • congenital disorder of glycosylation
acid-labile subunit, deficiency of
  • acid-labile subunit deficiency
- elite association - COSMIC cancer census association via MalaCards
Search PMM2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PMM2_HUMAN
  • Congenital disorder of glycosylation 1A (CDG1A) [MIM:212065]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Congenital disorder of glycosylation type 1A is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism. {ECO:0000269 PubMed:10066032, ECO:0000269 PubMed:10571956, ECO:0000269 PubMed:10602363, ECO:0000269 PubMed:10801058, ECO:0000269 PubMed:11058895, ECO:0000269 PubMed:11058896, ECO:0000269 PubMed:11350185, ECO:0000269 PubMed:12357336, ECO:0000269 PubMed:15844218, ECO:0000269 PubMed:17307006, ECO:0000269 PubMed:9140401, ECO:0000269 PubMed:9497260, ECO:0000269 PubMed:9781039}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PMM2

Genetic Association Database (GAD)
PMM2
Human Genome Epidemiology (HuGE) Navigator
PMM2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PMM2
genes like me logo Genes that share disorders with PMM2: view

No data available for Genatlas for PMM2 Gene

Publications for PMM2 Gene

  1. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). (PMID: 9140401) Matthijs G. … van Schaftingen E. (Nat. Genet. 1997) 2 3 4 23 67
  2. Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. (PMID: 19235233) Vega A.I. … PAcrez B. (Hum. Mutat. 2009) 3 23
  3. Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2. (PMID: 17166182) Quelhas D. … Azevedo L. (Ann. Hum. Genet. 2007) 3 23
  4. Characterization of two unusual truncating PMM2 mutations in two CDG- Ia patients. (PMID: 17307006) Schollen E. … Matthijs G. (Mol. Genet. Metab. 2007) 3 23
  5. Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype. (PMID: 17451957) Coman D. … Appleton D. (J Clin Neurosci 2007) 3 23

Products for PMM2 Gene

Sources for PMM2 Gene

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