PMM2 Gene (Protein Coding)

Phosphomannomutase 2

GC16P008788
GIFtS:
47
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 RefSe... See more...

Aliases for PMM2 Gene

Aliases for PMM2 Gene

  • Phosphomannomutase 2 2 3 4 5
  • Mannose-6-Phosphate Isomerase 2 3
  • Phosphomannose Isomerase 1 2 3
  • EC 5.4.2.8 4 51
  • CDG1a 2 3
  • PMM 2 3 4
  • CDGS 2 3
  • PMI1 2 3
  • PMI 2 3
  • CDG1 3
  • PMM2 5

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 Cerebral Atrophy. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include phosphomannomutase activity. An important paralog of this gene is PMM1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for PMM2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PMM2 Gene

Genomics for PMM2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PMM2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PMM2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PMM2

Top Transcription factor binding sites by QIAGEN in the PMM2 gene promoter:
  • AML1a
  • AP-4
  • AREB6
  • c-Ets-1
  • C/EBPalpha
  • COMP1
  • FOXJ2
  • FOXJ2 (long isoform)
  • Pax-2
  • Pax-2a

Genomic Locations for PMM2 Gene

Genomic Locations for PMM2 Gene
chr16:8,788,823-8,849,326
(GRCh38/hg38)
Size:
60,504 bases
Orientation:
Plus strand
chr16:8,882,680-8,943,194
(GRCh37/hg19)
Size:
60,515 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 Structure • Gene Density

RefSeq DNA sequence for PMM2 Gene

Proteins for PMM2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for PMM2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for PMM2 Gene

O15305:
  • IQDLINYCLSYIA
  • NVSPIGR
  • KYDYVFPENGLVAY
  • RGTFIEFR
  • YKTIYFFGDKT
  • DGTLTAPRQKIT
  • KIGVVGGSDFEK
  • LFDVDGTLT
  • ISFDVFP
  • LTFSIGGQIS
  • GGNDHEI

Post-translational modifications for PMM2 Gene

  • Ubiquitination at Lys202
  • Modification sites at PhosphoSitePlus

Other Protein References for PMM2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for PMM2
  • Boster Bio Antibodies for PMM2

Domains & Families for PMM2 Gene

Gene Families for PMM2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PMM2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PMM2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50559, highly similar to Phosphomannomutase 2 (EC 5.4.2.8) (B7Z419_HUMAN)
  • cDNA FLJ50693, highly similar to Phosphomannomutase 2 (EC 5.4.2.8) (B7Z6R0_HUMAN)
  • Phosphomannomutase 2 (PMM2_HUMAN)

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for PMM2 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=alpha-D-mannose 1-phosphate = D-mannose 6-phosphate; Xref=Rhea:RHEA:11140, ChEBI:CHEBI:58409, ChEBI:CHEBI:58735; EC=5.4.2.8;.
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};
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

Enzyme Numbers (IUBMB) for PMM2 Gene

Phenotypes From GWAS Catalog for PMM2 Gene

Gene Ontology (GO) - Molecular Function for PMM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004615 phosphomannomutase activity IEA,IBA 21873635
GO:0005515 protein binding IPI 25416956
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with PMM2: view
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:
  • Pmm2 Pmm2<tm2.1Cknr>
  • Pmm2 Pmm2<tm1b(EUCOMM)Hmgu>
  • Pmm2 Pmm2<tm1Cthl>

Animal Model Products

CRISPR Products

miRNA for PMM2 Gene

miRTarBase miRNAs that target PMM2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PMM2

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PMM2 gene
Compartment Confidence
cytosol 5
nucleus 4
endoplasmic reticulum 2
golgi apparatus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PMM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0043025 neuronal cell body 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:0006013 mannose metabolic process IBA 21873635
GO:0006486 protein glycosylation TAS 9140401
GO:0006487 protein N-linked glycosylation IBA 21873635
GO:0009298 GDP-mannose biosynthetic process IEA,TAS --
GO:0045047 protein targeting to ER IBA 21873635
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

Products:

  1. Drug

(4) Drugs for PMM2 Gene - From: HMDB and Novoseek

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
Mannose 6-phosphate Investigational Pharma 0

(1) Additional Compounds for PMM2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PMM2: view

Transcripts for PMM2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PMM2 Gene

1 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PMM2

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

Expression for PMM2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PMM2 Gene

mRNA expression in normal human tissues for PMM2 Gene
mRNA expression by GTEx for PMM2 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for PMM2 Gene



Protein tissue co-expression partners for PMM2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PMM2

SOURCE GeneReport for Unigene cluster for PMM2 Gene:

Hs.625732

Evidence on tissue expression from TISSUES for PMM2 Gene

  • Liver(4.6)
  • Pancreas(4.4)
  • Nervous system(3.8)
  • Intestine(3.5)
  • Skin(3)
  • Kidney(2.9)
  • Blood(2.2)
  • Heart(2.2)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PMM2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • thyroid
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • placenta
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PMM2: view

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 30 31
  • 94.35 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PMM2 30 31
  • 89.43 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Pmm2 30
  • 88.01 (n)
Mouse
(Mus musculus)
 Mammalia Pmm2 30 17 31
  • 87.87 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PMM2 30 31
  • 87.62 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 87 (a)
 OneToMany
-- 31
  • 85 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia PMM2 31
  • 81 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves PMM2 30 31
  • 77.28 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PMM2 31
  • 78 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia pmm1 30
  • 72.98 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.27399 30
Zebrafish
(Danio rerio)
 Actinopterygii pmm2 30 31
  • 70.14 (n)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.8332 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP011353 30
  • 59.35 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG10688 30 31 32
  • 59.08 (n)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea CELE_F52B11.2 30
  • 57.95 (n)
F52B11.2 31 32
  • 53 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SEC53 30 31 33
  • 57.22 (n)
 OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0D05709g 30
  • 56.62 (n)
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_ABR236W 30
  • 53.97 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons PMM 30
  • 60.91 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.6965 30
Soybean
(Glycine max)
 eudicotyledons Gma.3992 30
Rice
(Oryza sativa)
 Liliopsida Os04g0682300 30
  • 59.67 (n)
Os.8518 30
Barley
(Hordeum vulgare)
 Liliopsida Hv.3523 30
Wheat
(Triticum aestivum)
 Liliopsida Ta.29895 30
Corn
(Zea mays)
 Liliopsida Zm.7133 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 63 (a)
 OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes pmm1 30
  • 58.58 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU02829 30
  • 55.56 (n)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.3780 30
Species where no ortholog for PMM2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PMM2: view image

Paralogs for PMM2 Gene

Paralogs for PMM2 Gene

(1) SIMAP similar genes for PMM2 Gene using alignment to 12 proteins:

  • PMM2_HUMAN
  • B7Z419_HUMAN
  • B7Z6R0_HUMAN
  • F5H0W0_HUMAN
  • H3BM92_HUMAN
  • H3BNY9_HUMAN
  • H3BPH4_HUMAN
  • H3BR08_HUMAN
  • H3BRM0_HUMAN
  • H3BT06_HUMAN
  • H3BV34_HUMAN
  • H3BV55_HUMAN

Pseudogenes.org Pseudogenes for PMM2 Gene

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

Variants for PMM2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PMM2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
639185 Pathogenic/Likely Pathogenic: Congenital disorder of glycosylation, type Ia; not provided 8,847,766(+) G/T MISSENSE_VARIANT
639844 Conflicting Interpretations: Congenital disorder of glycosylation, type Ia; not provided 8,797,953(+) G/A INTRON_VARIANT
641858 Likely Pathogenic: Congenital disorder of glycosylation, type Ia 8,847,771(+) C/G NONSENSE
642547 Uncertain Significance: Congenital disorder of glycosylation, type Ia 8,813,012(+) T/A MISSENSE_VARIANT
651739 Pathogenic: Congenital disorder of glycosylation, type Ia 8,813,015(+) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PMM2 Gene

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

Variant ID Type Subtype PubMed ID
dgv341n27 CNV gain 19166990
dgv4906n54 CNV gain 21841781
esv1354772 CNV insertion 17803354
esv24810 CNV loss 19812545
esv27013 CNV gain 19812545
esv2763129 CNV gain 21179565
esv3307137 CNV mobile element insertion 20981092
esv3420459 CNV insertion 20981092
esv3432665 CNV insertion 20981092
esv3570287 CNV gain 25503493
esv3582005 CNV loss 25503493
esv3637841 CNV gain 21293372
esv3637845 CNV gain 21293372
esv3637846 CNV gain 21293372
esv3637849 CNV loss 21293372
esv3637850 CNV gain 21293372
nsv1036281 CNV gain 25217958
nsv1036523 CNV gain 25217958
nsv1043528 CNV gain 25217958
nsv1047172 CNV gain 25217958
nsv1134496 CNV deletion 24896259
nsv457394 CNV gain 19166990
nsv457398 CNV gain 19166990
nsv521109 CNV loss 19592680
nsv571424 CNV gain 21841781
nsv571427 CNV gain 21841781
nsv571428 CNV gain 21841781
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)

Additional Variant Information for PMM2 Gene

Human Gene Mutation Database (HGMD)
PMM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PMM2

SNP Genotyping and Copy Number Assay Products

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

Disorders for PMM2 Gene

MalaCards: The human disease database

(40) MalaCards diseases for PMM2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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 form of congenital disorder of glycosylation, 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. CDG1A 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:10527672, 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.

Additional Disease Information for PMM2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (Nature genetics 1997) 2 3 4 23
  2. Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients. (PMID: 17307006) Schollen E … Matthijs G (Molecular genetics and metabolism 2007) 3 4 23
  3. A new insight into PMM2 mutations in the French population. (PMID: 15844218) Le Bizec C … Seta N (Human mutation 2005) 3 4 23
  4. DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). (PMID: 12357336) Schollen E … Matthijs G (European journal of human genetics : EJHG 2002) 3 4 23
  5. Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry. (PMID: 11350185) Westphal V … Freeze HH (Molecular genetics and metabolism 2001) 3 4 23

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