ENSMUSG00000022711


Mus musculus

Features
Gene ID: ENSMUSG00000022711
  
Biological name :Pmm2
  
Synonyms : phosphomannomutase 2 / Pmm2 / Q9Z2M7
  
Possible biological names infered from orthology : O15305
  
Species: Mus musculus
  
Chr. number: 16
Strand: 1
Band: A1
Gene start: 8637674
Gene end: 8662467
  
Corresponding Affymetrix probe sets: 10433462 (MoGene1.0st)   1431464_a_at (Mouse Genome 430 2.0 Array)   1431938_a_at (Mouse Genome 430 2.0 Array)   1439953_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000023396
Ensembl peptide - ENSMUSP00000155554
NCBI entrez gene - 54128     See in Manteia.
MGI - MGI:1859214
RefSeq - XM_006522360
RefSeq - NM_016881
RefSeq Peptide - NP_058577
swissprot - Q545N8
swissprot - Q9Z2M7
Ensembl - ENSMUSG00000022711
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pmm2ENSDARG00000037654Danio rerio
 PMM2ENSGALG00000007326Gallus gallus
 PMM2ENSG00000140650Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Pmm1 / O35621 / phosphomannomutase 1 / Q92871*ENSMUSG0000002247464


Protein motifs (from Interpro)
Interpro ID Name
 IPR005002  Phosphomannomutase
 IPR006379  HAD-superfamily hydrolase, subfamily IIB
 IPR023214  HAD superfamily
 IPR036412  HAD-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006013 mannose metabolic process IBA
 biological_processGO:0006487 protein N-linked glycosylation IBA
 biological_processGO:0009298 GDP-mannose biosynthetic process IEA
 biological_processGO:0045047 protein targeting to ER IBA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0043025 neuronal cell body IDA
 molecular_functionGO:0004615 phosphomannomutase activity IEA
 molecular_functionGO:0016853 isomerase activity IEA


Pathways (from Reactome)
Pathway description
Synthesis of GDP-mannose


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Grin2atm1.1Jpleo/Grin2atm1.1Jpleo
Genetic Background: involves: 129S4/SvJae * C57BL/6 * FVB/N

 MP:0000278 abnormal myocardial fiber morphology "malformed or poorly developed cardiac muscle fibers, the multinucleated muscle cells of the heart" [J:18048]
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Allelic Composition: Grin2atm1.1Jpleo/Grin2atm1.1Jpleo
Genetic Background: involves: 129S4/SvJae * C57BL/6 * FVB/N

 MP:0000280 thin ventricular wall "decreased depth of the cardiac wall of the heart ventricles" [J:45302]
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Allelic Composition: Grin2atm1.1Jpleo/Grin2atm1.1Jpleo
Genetic Background: involves: 129S4/SvJae * C57BL/6 * FVB/N

 MP:0000702 enlarged lymph nodes "lymph nodes of increased size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Pdgfrbtm1b(EUCOMM)Hmgu/Pdgfrb+
Genetic Background: C57BL/6N-Pdgfrbtm1b(EUCOMM)Hmgu/H

 MP:0001258 decreased body length "decreased crown to tail distance compared to controls" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
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Allelic Composition: Tgm3we/Tgm3we-3J
Genetic Background: involves 129P3/J * C57BL/10 * NZB/BlNJ * UW

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Grin2atm1.1Jpleo/Grin2atm1.1Jpleo
Genetic Background: involves: 129S4/SvJae * C57BL/6 * FVB/N

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Grin2atm1.1Jpleo/Grin2atm1.1Jpleo
Genetic Background: involves: 129S4/SvJae * C57BL/6 * FVB/N

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Tgm3we/Tgm3we-3J
Genetic Background: involves 129P3/J * C57BL/10 * NZB/BlNJ * UW

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Grin2atm1.1Jpleo/Grin2atm1.1Jpleo
Genetic Background: involves: 129S4/SvJae * C57BL/6 * FVB/N

 MP:0002085 abnormal embryonic tissue morphology "structural abnormality or development of any embryonic tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tgm3we/Tgm3we-3J
Genetic Background: involves 129P3/J * C57BL/10 * NZB/BlNJ * UW

 MP:0002086 abnormal extraembryonic tissue morphology "structural abnormality or development of the membranes involved with embryonic protection and nutrition" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:40594, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Tgm3we/Tgm3we-3J
Genetic Background: involves 129P3/J * C57BL/10 * NZB/BlNJ * UW

 MP:0002092 abnormal eye morphology "abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Grin2atm1.1Jpleo/Grin2atm1.1Jpleo
Genetic Background: involves: 129S4/SvJae * C57BL/6 * FVB/N

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tgm3we/Tgm3we-3J
Genetic Background: involves 129P3/J * C57BL/10 * NZB/BlNJ * UW

 MP:0002607 decreased basophil count "lower than average number of basophils as measured by the percent of the total number of leukocytes" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, MPD:Mouse Phenome Database]
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Allelic Composition: Pdgfrbtm1b(EUCOMM)Hmgu/Pdgfrb+
Genetic Background: C57BL/6N-Pdgfrbtm1b(EUCOMM)Hmgu/H

 MP:0003718 maternal effect "expression of a phenotypic trait in an female animal s offspring that is dependent on the maternal genotype" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mafbtm1Jeng/Mafbtm1Jeng
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tgm3we/Tgm3we-3J
Genetic Background: involves 129P3/J * C57BL/10 * NZB/BlNJ * UW

 MP:0004144 hypotonia "decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness" [hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Pmm2tm1.1Jins/Pmm2tm2.1Jins
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0004261 abnormal embryonic neuroepithelium morphology "any structural anomaly in the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells" [ISBN:0838580343 "Kandel ER, et al. Principles of Neural Science, 3rd edition", MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Tgm3we/Tgm3we-3J
Genetic Background: involves 129P3/J * C57BL/10 * NZB/BlNJ * UW

 MP:0004701 decreased circulating insulin-like growth factor I level "reduced blood concentration of this polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pmm2tm1.1Jins/Pmm2tm2.1Jins
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0004703 abnormal vertebral column "any structural anomaly of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pmm2tm1.1Jins/Pmm2tm2.1Jins
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0004756 abnormal proximal convoluted tubule morphology "any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomeurlar capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule is reabsorbed into the peritubular capillaries, including approximately two-thirds of the filtered salt and water and all filtered organic solutes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pmm2tm1.1Jins/Pmm2tm2.1Jins
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0005012 decreased eosinophil count "fewer than normal eosinophil numbers " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Pdgfrbtm1b(EUCOMM)Hmgu/Pdgfrb+
Genetic Background: C57BL/6N-Pdgfrbtm1b(EUCOMM)Hmgu/H

 MP:0005033 abnormal trophoblast cells "anomaly of the cells covering the blastocyst that erode the uterine mucosa and contribute to the formation of the placenta " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, dlb:Donna Burkart , Mouse Genome Informatics Curator, J:57761]
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Allelic Composition: Tgm3we/Tgm3we-3J
Genetic Background: involves 129P3/J * C57BL/10 * NZB/BlNJ * UW

 MP:0005329 abnormal cardiac muscle morphology "anomalous structure of the involuntary muscle comprising the myocardium " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Tgm3we/Tgm3we-3J
Genetic Background: involves 129P3/J * C57BL/10 * NZB/BlNJ * UW

Allelic Composition: Pmm2tm1.1Jins/Pmm2tm2.1Jins
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0005565 increased blood urea nitrogen level "high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Pdgfrbtm1b(EUCOMM)Hmgu/Pdgfrb+
Genetic Background: C57BL/6N-Pdgfrbtm1b(EUCOMM)Hmgu/H

 MP:0005621 abnormal cell physiology "aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Tgm3we/Tgm3we-3J
Genetic Background: involves 129P3/J * C57BL/10 * NZB/BlNJ * UW

 MP:0009050 dilated proximal convoluted tubules "stretched or widened aperture of the luminal space of the convoluted portion of the duct system of the nephron that extends from the renal glomerular capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Pmm2tm1.1Jins/Pmm2tm2.1Jins
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0009642 abnormal blood homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of various functions or chemical or protein composition of the blood" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pmm2tm1.1Jins/Pmm2tm2.1Jins
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0010725 thin interventricular septum "decreased thickness of the wall between the two lower chambers of the heart" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pmm2tm1.1Jins/Pmm2tm2.1Jins
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0011091 complete prenatal lethality "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Grin2atm1.1Jpleo/Grin2atm1.1Jpleo
Genetic Background: involves: 129S4/SvJae * C57BL/6 * FVB/N

 MP:0011092 complete embryonic lethality "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
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Allelic Composition: Mafbtm1Jeng/Mafbtm1Jeng
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Pmm2tm2.1Cknr/Pmm2tm2.1Cknr
Genetic Background: involves: C57BL/6J

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Tgm3we/Tgm3we-3J
Genetic Background: involves 129P3/J * C57BL/10 * NZB/BlNJ * UW

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Grin2atm1.1Jpleo/Grin2atm1.1Jpleo
Genetic Background: involves: 129S4/SvJae * C57BL/6 * FVB/N

Allelic Composition: Pmm2tm1.1Jins/Pmm2tm2.1Jins
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0011260 abnormal head mesenchyme morphology "any structural anomaly of the primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells" [ISBN:0-683-40008-8]
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Allelic Composition: Tgm3we/Tgm3we-3J
Genetic Background: involves 129P3/J * C57BL/10 * NZB/BlNJ * UW

 MP:0011352 proximal convoluted tubule brush border loss "attenuation or degeneration of the microvillus brush border normally present on the luminal surface of epithelial cells of the proximal convoluted tubule; may be associated with renal tubular injury and/or cystic changes" [MGI:anna]
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Allelic Composition: Pmm2tm1.1Jins/Pmm2tm2.1Jins
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0012325 decreased circulating antithrombin level "lower than normal levels of the family of glycoproteins which neutralize the ability of thrombin to promote blood coagulation; low levels are associated with vein thrombosis and pulmonary embolism" [ISBN:0-683-40008-8, MPD:Molly]
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Allelic Composition: Pmm2tm1.1Jins/Pmm2tm2.1Jins
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0013292 embryonic lethality prior to organogenesis "death prior to the completion of embryo turning (Mus: E9-9.5)" [MGI:smb]
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Allelic Composition: Pdgfrbtm1b(EUCOMM)Hmgu/Pdgfrb+
Genetic Background: C57BL/6N-Pdgfrbtm1b(EUCOMM)Hmgu/H

 MP:0013293 embryonic lethality prior to tooth bud stage "death prior to the appearance of tooth buds (Mus: E12-E12.5)" [MGI:smb]
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Allelic Composition: Pdgfrbtm1b(EUCOMM)Hmgu/Pdgfrb+
Genetic Background: C57BL/6N-Pdgfrbtm1b(EUCOMM)Hmgu/H

 MP:0014045 Mallory bodies "stereotypical manifestations of hepatocyte injury that present as cytoplasmic inclusion bodies consisting of intermediate filament components (e.g., modified cytokeratins, chaperones and protein degradation machinery)" [PMID:17531973, PMID:7927209]
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Allelic Composition: Pmm2tm1.1Jins/Pmm2tm2.1Jins
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0030387 large posterior fontanelle "an abnormally increased size of the triangle-shaped membranous interval between the pair of parietal bones and the occipital bone for age-related norms; the posterior fontanelle is located at the lambda, at the junction between the sagittal suture and the lambdoid suture" [MGI:anna]
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Allelic Composition: Pmm2tm1.1Jins/Pmm2tm2.1Jins
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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