Details of Drug-Metabolizing Enzyme (DME)

General Information of Drug-Metabolizing Enzyme (DME) (ID: DEBRX3L)

DME Name Phosphomannomutase 2 (PMM2)
Synonyms Alpha-D-phosphohexomutase 2; Alpha-phosphomannomutase 2; IMP-sensitive glucose-1,6-bisphosphatase 2; Phosphoglucomutase/phosphomannomutase 2; PMM 2; PMM2
Gene Name PMM2
UniProt ID
PMM2_HUMAN
INTEDE ID
DME0452
3D Structure
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2D Sequence (FASTA)
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3D Structure (PDB)
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Gene ID
5373
EC Number EC: 5.4.2.8
Isomerase
Mutase
Phosphomutase
EC: 5.4.2.8
Lineage Species: Homo sapiens
Kingdom: Metazoa
Phylum: Chordata
Class: Mammalia
Order: Primates
Family: Hominidae
Genus: Homo
Species: Homo sapiens
Sequence
MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDV
VEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFI
EFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISF
DVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGGNDHEIFTDPRTMGYSVTAPEDTRRI
CELLFS
Function This enzyme is involved in the synthesis of the GDP-mannose and dolichol- phosphate-mannose required for a number of critical mannosyl transfer reactions.
KEGG Pathway
Amino sugar and nucleotide sugar metabolism (hsa00520 )
Fructose and mannose metabolism (hsa00051 )
Metabolic pathways (hsa01100 )
Reactome Pathway
Synthesis of GDP-mannose (R-HSA-446205 )
Defective PMM2 causes PMM2-CDG (CDG-1a) (R-HSA-4043911 )

Molecular Interaction Atlas (MIA) of This DME

Molecular Interaction Atlas (MIA) Jump to Detail Molecular Interaction Atlas of This DME
2 Investigative Drug(s) Metabolized by This DME
Drug Name Drug ID Indication ICD 11 Highest Status REF
D-glucose 1-phosphate DMPW46G N. A. N. A. Investigative [1]
D-Mannose 1-Phosphate DM7O1IW Discovery agent N.A. Investigative [1]
Experimental Enzyme Kinetic Data of Drugs
Drug Name Indication Highest Status Kinetic Data REF
D-Mannose 1-Phosphate Discovery agent [N.A.] Investigative Km = 0.016 microM [1]

Molecular Expression Atlas (MEA) of This DME

Molecular Expression Atlas (MEA) Jump to Detail Molecular Expression Atlas of This DME
Disease Name ICD 11 Studied Tissue p-value Fold-Change Z-score
Acute myelocytic leukaemia 2B33.1 Bone marrow 9.05E-01 -8.75E-02 -1.51E-01
Alopecia ED70 Skin from scalp 9.78E-01 -6.06E-02 -1.77E-01
Alzheimer's disease 8A20 Entorhinal cortex 6.76E-06 -1.47E-01 -5.48E-01
Ankylosing spondylitis FA92.0 Pheripheral blood 8.85E-02 1.07E-01 2.90E-01
Aortic stenosis BB70 Calcified aortic valve 3.57E-01 4.67E-01 5.76E-01
Apnea 7A40 Hyperplastic tonsil 2.57E-01 -4.35E-01 -1.03E+00
Arthropathy FA00-FA5Z Peripheral blood 8.07E-01 -7.70E-02 -2.81E-01
Asthma CA23 Nasal and bronchial airway 2.32E-09 7.50E-01 8.30E-01
Atopic dermatitis EA80 Skin 2.01E-06 3.70E-01 1.42E+00
Autism 6A02 Whole blood 9.41E-03 -8.94E-02 -3.12E-01
Autoimmune uveitis 9A96 Peripheral monocyte 4.77E-01 1.61E-01 3.58E-01
Autosomal dominant monocytopenia 4B04 Whole blood 2.22E-01 -2.96E-01 -3.50E-01
Bacterial infection of gingival 1C1H Gingival tissue 1.49E-05 2.05E-01 5.98E-01
Batten disease 5C56.1 Whole blood 2.78E-01 9.34E-02 7.81E-01
Behcet's disease 4A62 Peripheral blood 2.38E-01 -4.57E-02 -2.36E-01
Bipolar disorder 6A60-6A6Z Prefrontal cortex 1.92E-01 1.91E-02 1.05E-01
Bladder cancer 2C94 Bladder tissue 8.24E-06 8.64E-01 3.40E+00
Breast cancer 2C60-2C6Z Breast tissue 1.62E-96 9.10E-01 1.85E+00
Cardioembolic stroke 8B11.20 Whole blood 1.21E-01 5.50E-02 1.96E-01
Cervical cancer 2C77 Cervical tissue 2.45E-02 -2.04E-01 -5.53E-01
Childhood onset rheumatic disease FA20.Z Peripheral blood 8.42E-01 5.40E-02 7.55E-02
Chronic hepatitis C 1E51.1 Whole blood 8.86E-01 2.97E-03 1.70E-02
Chronic obstructive pulmonary disease CA22 Lung tissue 3.29E-01 -2.17E-01 -4.18E-01
Chronic obstructive pulmonary disease CA22 Small airway epithelium 7.56E-02 1.48E-01 4.15E-01
Chronic rhinosinusitis CA0A Sinus mucosa tissue 6.73E-02 2.47E-01 1.11E+00
Colon cancer 2B90 Colon tissue 4.46E-19 3.68E-01 1.00E+00
Coronary artery disease BA80-BA8Z Peripheral blood 8.18E-02 1.81E-01 2.12E+00
Diffuse large B-cell lymphoma 2A81 Tonsil tissue 5.65E-01 -9.60E-03 -3.96E-02
Endometriosis GA10 Endometrium tissue 6.36E-01 2.48E-01 4.58E-01
Familial hypercholesterolemia 5C80.00 Peripheral blood 1.27E-01 9.09E-02 5.34E-01
Familial hypercholesterolemia 5C80.00 Whole blood 1.81E-10 8.40E-01 2.17E+00
Gastric cancer 2B72 Gastric tissue 1.94E-01 7.26E-01 8.54E-01
Glioblastopma 2A00.00 Nervous tissue 5.32E-87 5.78E-01 1.39E+00
Glioma 2A00.0Y-2A00.0Z Brain stem tissue 8.95E-01 -1.87E-01 -2.03E-01
Glioma 2A00.0Y-2A00.0Z White matter tissue 4.28E-03 9.01E-01 1.06E+00
Head and neck cancer 2D42 Head and neck tissue 5.58E-16 4.42E-01 1.07E+00
HIV-associated neurocognitive impairment 8A2Y-8A2Z White matter tissue 7.31E-01 8.44E-02 4.52E-01
Huntington's disease 8A01.10 Whole blood 9.18E-01 -3.94E-03 -1.73E-02
Idiopathic pulmonary fibrosis CB03.4 Lung tissue 4.79E-01 -8.91E-02 -2.04E-01
Immunodeficiency 4A00-4A20 Peripheral blood 4.80E-01 4.44E-02 2.29E-01
Influenza 1E30 Whole blood 3.73E-04 -1.21E+00 -9.40E+00
Interstitial cystitis GC00.3 Bladder tissue 4.17E-02 2.76E-01 1.05E+00
Intracranial aneurysm 8B01.0 Intracranial artery 8.42E-05 7.06E-01 2.76E+00
Irritable bowel syndrome DD91.0 Rectal colon tissue 8.86E-01 -1.20E-02 -2.81E-02
Ischemic stroke 8B11 Peripheral blood 5.94E-01 1.28E-02 4.05E-02
Juvenile idiopathic arthritis FA24 Peripheral blood 4.04E-07 -3.12E-01 -8.98E-01
Lateral sclerosis 8B60.4 Skin 9.70E-03 -3.55E-01 -4.44E+00
Lateral sclerosis 8B60.4 Cervical spinal cord 8.46E-01 -3.97E-02 -1.49E-01
Liver cancer 2C12.0 Liver tissue 9.52E-01 8.00E-02 1.23E-01
Liver failure DB99.7-DB99.8 Liver tissue 2.01E-01 -3.58E-01 -6.54E-01
Lung cancer 2C25 Lung tissue 4.49E-48 5.96E-01 1.65E+00
Lupus erythematosus 4A40 Whole blood 1.44E-06 3.30E-01 4.57E-01
Major depressive disorder 6A70-6A7Z Hippocampus 6.63E-01 -8.82E-03 -4.52E-02
Major depressive disorder 6A70-6A7Z Whole blood 2.57E-01 -1.60E-01 -3.37E-01
Melanoma 2C30 Skin 7.11E-01 -7.85E-02 -9.46E-02
Multiple myeloma 2A83.1 Peripheral blood 5.09E-01 -3.74E-01 -9.20E-01
Multiple myeloma 2A83.1 Bone marrow 3.12E-04 4.53E-01 2.12E+00
Multiple sclerosis 8A40 Plasmacytoid dendritic cells 6.15E-01 -5.57E-02 -6.93E-02
Myelodysplastic syndrome 2A36-2A3Z Bone marrow 3.40E-03 1.89E-01 5.43E-01
Myelofibrosis 2A20.2 Whole blood 5.01E-01 7.85E-02 2.71E-01
Myocardial infarction BA41-BA50 Peripheral blood 1.21E-02 -6.79E-01 -8.16E-01
Myopathy 8C70.6 Muscle tissue 4.97E-01 1.91E-01 3.72E-01
Neonatal sepsis KA60 Whole blood 2.68E-01 1.36E-01 3.27E-01
Neuroectodermal tumour 2A00.11 Brain stem tissue 1.03E-06 1.19E+00 3.15E+00
Non-alcoholic fatty liver disease DB92 Liver tissue 7.04E-01 5.49E-01 1.29E+00
Obesity related type 2 diabetes 5A11 Omental adipose tissue 4.38E-01 -7.95E-02 -1.21E-01
Olive pollen allergy CA08.00 Peripheral blood 6.84E-03 -5.99E-01 -2.80E+00
Oral cancer 2B6E Oral tissue 9.51E-05 5.68E-01 1.13E+00
Osteoarthritis FA00-FA0Z Synovial tissue 9.98E-02 6.60E-01 8.68E-01
Osteoporosis FB83.1 Bone marrow 1.60E-01 -2.96E-01 -9.73E-01
Ovarian cancer 2C73 Ovarian tissue 1.46E-03 7.58E-01 1.17E+00
Pancreatic cancer 2C10 Pancreas 2.71E-01 3.31E-03 9.45E-03
Parkinson's disease 8A00.0 Substantia nigra tissue 5.72E-02 -1.02E-01 -3.28E-01
Pediatric respiratory syncytial virus infection CA40.11 Peripheral blood 3.61E-01 6.84E-02 3.38E-01
Pituitary cancer 2D12 Pituitary tissue 1.28E-01 -4.38E-01 -8.29E-01
Pituitary gonadotrope tumour 2D12 Pituitary tissue 9.55E-03 -6.88E-01 -1.40E+00
Polycystic ovary syndrome 5A80.1 Vastus lateralis muscle 1.11E-01 -5.17E-02 -3.46E-01
Polycythemia vera 2A20.4 Whole blood 6.72E-01 -8.63E-03 -3.19E-02
Pompe disease 5C51.3 Biceps muscle 2.25E-03 4.43E-01 1.46E+00
Preterm birth KA21.4Z Myometrium 5.14E-01 1.08E-01 2.25E-01
Prostate cancer 2C82 Prostate 6.99E-07 1.14E+00 1.78E+00
Psoriasis EA90 Skin 5.29E-28 7.50E-01 1.75E+00
Rectal cancer 2B92 Rectal colon tissue 1.42E-01 1.18E-01 4.79E-01
Renal cancer 2C90-2C91 Kidney 6.44E-04 8.21E-01 1.39E+00
Retinoblastoma 2D02.2 Uvea 1.54E-10 1.69E+00 5.17E+00
Rheumatoid arthritis FA20 Synovial tissue 4.79E-05 9.22E-01 3.26E+00
Rhinovirus infection CA42.1 Nasal epithelium tissue 7.19E-01 -1.65E-02 -6.07E-02
Schizophrenia 6A20 Prefrontal cortex 2.35E-01 7.30E-02 7.18E-02
Schizophrenia 6A20 Superior temporal cortex 5.82E-01 1.73E-02 1.46E-01
Scleroderma 4A42.Z Whole blood 6.79E-01 1.11E-01 3.67E-01
Seizure 8A60-8A6Z Whole blood 7.78E-01 2.26E-01 5.05E-01
Sensitive skin EK0Z Skin 7.01E-01 0.00E+00 0.00E+00
Sepsis with septic shock 1G41 Whole blood 4.23E-09 -1.71E-01 -5.51E-01
Shwachman-Diamond syndrome 3A70.0 Bone marrow 9.32E-01 1.47E-01 3.72E-01
Sickle cell disease 3A51.0-3A51.3 Peripheral blood 3.66E-02 -2.51E-01 -9.07E-01
Simpson golabi behmel syndrome LD2C Adipose tissue 9.82E-02 -7.16E-01 -2.45E+00
Sjogren's syndrome 4A43.2 Salivary gland tissue 6.64E-01 -1.54E-01 -1.04E+00
Skin cancer 2C30-2C3Z Skin 6.66E-35 6.63E-01 1.27E+00
Thrombocythemia 3B63 Whole blood 9.87E-01 -1.26E-02 -4.31E-02
Thrombocytopenia 3B64 Whole blood 4.88E-01 1.88E-01 3.10E-01
Thyroid cancer 2D10 Thyroid 1.98E-06 2.10E-01 6.56E-01
Tibial muscular dystrophy 8C75 Muscle tissue 4.14E-05 5.66E-01 1.59E+00
Tuberous sclerosis complex LD2D.2 Perituberal tissue 6.73E-02 3.33E-01 1.49E+00
Type 2 diabetes 5A11 Liver tissue 2.10E-01 8.67E-04 3.29E-03
Ureter cancer 2C92 Urothelium 7.65E-01 5.22E-02 2.21E-01
Uterine cancer 2C78 Endometrium tissue 1.99E-04 -2.91E-01 -4.79E-01
Vitiligo ED63.0 Skin 2.63E-02 2.21E-01 1.52E+00
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⏷ Show the Full List of DME Expression Under 107 Diseases

References

1 The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a. J Biol Chem. 2006 May 26;281(21):14918-26.