Showing entry for Laforin


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT005370
Protein NameLaforin
Uniport IdO95278
GeneEPM2A
Gene Id7957
DomainCBM_20; DSPc
Pfam PF00686   PF00782  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0000045 autophagosome assembly
Biological Process GO:0006816 calcium ion transport
Biological Process GO:0016311 dephosphorylation
Biological Process GO:0014009 glial cell proliferation
Biological Process GO:0005978 glycogen biosynthetic process
Biological Process GO:0005977 glycogen metabolic process
Biological Process GO:0046959 habituation
Biological Process GO:0015813 L-glutamate transmembrane transport
Biological Process GO:0007005 mitochondrion organization
Biological Process GO:0045786 negative regulation of cell cycle
Biological Process GO:0035305 negative regulation of dephosphorylation
Biological Process GO:0010629 negative regulation of gene expression
Biological Process GO:0033137 negative regulation of peptidyl-serine phosphorylation
Biological Process GO:0010923 negative regulation of phosphatase activity
Biological Process GO:0035335 peptidyl-tyrosine dephosphorylation
Biological Process GO:0046838 phosphorylated carbohydrate dephosphorylation
Biological Process GO:0016239 positive regulation of macroautophagy
Biological Process GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
Biological Process GO:0006470 protein dephosphorylation
Biological Process GO:0001558 regulation of cell growth
Biological Process GO:2000465 regulation of glycogen (starch) synthase activity
Biological Process GO:0061136 regulation of proteasomal protein catabolic process
Biological Process GO:0042306 regulation of protein import into nucleus
Biological Process GO:0045859 regulation of protein kinase activity
Biological Process GO:1903076 regulation of protein localization to plasma membrane
Biological Process GO:1904666 regulation of ubiquitin protein ligase activity
Biological Process GO:0016055 Wnt signaling pathway
molecular function GO:0030246 carbohydrate binding
molecular function GO:0019203 carbohydrate phosphatase activity
molecular function GO:2001069 glycogen binding
molecular function GO:0016791 phosphatase activity
molecular function GO:0046983 protein dimerization activity
molecular function GO:0042803 protein homodimerization activity
molecular function GO:0004722 protein serine/threonine phosphatase activity
molecular function GO:0008138 protein tyrosine/serine/threonine phosphatase activity
molecular function GO:0004725 protein tyrosine phosphatase activity
molecular function GO:2001070 starch binding
cellular component GO:0005737 cytoplasm
cellular component GO:0098556 cytoplasmic side of rough endoplasmic reticulum membrane
cellular component GO:0005829 cytosol
cellular component GO:0030425 dendrite
cellular component GO:0005654 nucleoplasm
cellular component GO:0005634 nucleus
cellular component GO:0043204 perikaryon
cellular component GO:0005886 plasma membrane
Reactome
Pathway Id Pathway Name
R-HSA-1430728 Metabolism
R-HSA-1643685 Disease
R-HSA-3229121 Glycogen storage diseases
R-HSA-3322077 Glycogen synthesis
R-HSA-3785653 Myoclonic epilepsy of Lafora
R-HSA-5663084 Diseases of carbohydrate metabolism
R-HSA-5668914 Diseases of metabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-8982491 Glycogen metabolism
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0003635 BXGD000214 Apraxias Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0009241 BXGD000595 Cognition Disorders Mental Disorders
C0009676 BXGD000619 Confusion Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0011265 BXGD000708 Presenile dementia Nervous System Diseases; Mental Disorders
C0011581 BXGD000733 Depressive disorder Mental Disorders
C0013362 BXGD000817 Dysarthria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0014550 BXGD000930 Myoclonic Epilepsy Nervous System Diseases
C0017919 BXGD001150 Glycogen Storage Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0018681 BXGD001214 Headache Pathological Conditions, Signs and Symptoms
C0023186 BXGD001613 Learning Disorders Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0024299 BXGD001758 Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0026838 BXGD001938 Muscle Spasticity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0027066 BXGD001966 Myoclonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027404 BXGD001984 Narcolepsy Nervous System Diseases; Mental Disorders
C0027651 BXGD002009 Neoplasms Neoplasms
C0033975 BXGD002447 Psychotic Disorders Mental Disorders
C0035372 BXGD002544 Rett Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0036341 BXGD002600 Schizophrenia Mental Disorders
C0037317 BXGD002689 Sleep disturbances Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0038220 BXGD002740 Status Epilepticus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0085605 BXGD003200 Liver Failure Digestive System Diseases
C0085633 BXGD003216 Mood swings Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0149670 BXGD003345 Disorder of carbohydrate metabolism Nutritional and Metabolic Diseases
C0149958 BXGD003395 Complex partial seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0162672 BXGD003972 MERRF Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0200665 BXGD004045 Platelet mean volume determination (procedure)
C0206687 BXGD004242 Carcinoma, Endometrioid Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0233763 BXGD004611 Hallucinations, Visual Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0235946 BXGD004789 Cerebral atrophy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0270834 BXGD006114 Complex partial seizure with impairment of consciousness Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0270846 BXGD006116 Epileptic drop attack Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0349506 BXGD007912 Photosensitivity of skin Skin and Connective Tissue Diseases
C0376532 BXGD008000 Epilepsy, Rolandic Nervous System Diseases
C0476254 BXGD008984 Dyslexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0497327 BXGD009061 Dementia Nervous System Diseases; Mental Disorders
C0524851 BXGD009246 Neurodegenerative Disorders Nervous System Diseases
C0575081 BXGD009512 Gait abnormality Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0595948 BXGD009630 Atypical absence seizure Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0598798 BXGD009672 Lymphoid neoplasm Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0684276 BXGD009793 Hypsarrhythmia Nervous System Diseases
C0686619 BXGD009835 Secondary malignant neoplasm of lymph node Pathological Conditions, Signs and Symptoms; Neoplasms
C0700201 BXGD009880 Dyssomnias Nervous System Diseases; Mental Disorders
C0747651 BXGD010175 Recurrent aspiration pneumonia Infections; Respiratory Tract Diseases
C0751122 BXGD010325 Infantile Severe Myoclonic Epilepsy Nervous System Diseases
C0751383 BXGD010422 Juvenile Neuronal Ceroid Lipofuscinosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0751776 BXGD010585 Atypical Inclusion-Body Disease Nervous System Diseases
C0751777 BXGD010586 Familial Progressive Myoclonic Epilepsy Nervous System Diseases
C0751778 BXGD010587 Myoclonic Epilepsies, Progressive Nervous System Diseases
C0751779 BXGD010588 Action Myoclonus-Renal Failure Syndrome Nervous System Diseases
C0751780 BXGD010589 Biotin-Responsive Encephalopathy Nervous System Diseases
C0751781 BXGD010590 Dentatorubral-Pallidoluysian Atrophy Nervous System Diseases
C0751782 BXGD010591 May-White Syndrome Nervous System Diseases
C0751783 BXGD010592 Lafora Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0751784 BXGD010593 Lafora Body Disease, Late Onset Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0751785 BXGD010594 Unverricht-Lundborg Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0796206 BXGD010812 Atkin syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0851578 BXGD010925 Sleep Disorders Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0877017 BXGD011329 Generalized tonic-clonic seizures with focal onset Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0917808 BXGD011415 Vegetative State Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1269955 BXGD012005 Tumor Cell Invasion
C1272765 BXGD012016 Minimal deviation adenocarcinoma of endocervical type
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1332206 BXGD012504 Adult Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1332225 BXGD012515 Aggressive Non-Hodgkin Lymphoma
C1332979 BXGD012571 Childhood Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1838681 BXGD014337 Rapidly progressive
C1849186 BXGD015021 Severe photosensitivity Skin and Connective Tissue Diseases
C1850764 BXGD015175 EPILEPSY, PROGRESSIVE MYOCLONIC 2B Nervous System Diseases
C1850765 BXGD015176 Visual auras Nervous System Diseases
C1854838 BXGD015438 Progressive neurologic deterioration Mental Disorders
C3665346 BXGD019278 Unspecified visual loss Pathological Conditions, Signs and Symptoms; Eye Diseases
C3665347 BXGD019279 Visual Impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3665386 BXGD019284 Abnormal vision Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3806961 BXGD019528 Giant somatosensory evoked potentials
C4021759 BXGD020762 Generalized myoclonic seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4316903 BXGD022711 Absence Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4317109 BXGD022725 Epileptic Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4317153 BXGD022733 Simple partial occipital seizures Nervous System Diseases
C4476727 BXGD022856 Erratic myoclonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4551584 BXGD023362 Brain atrophy Nervous System Diseases
C4551915 BXGD023441 Gait Disturbance, CTCAE
C4553743 BXGD023548 Spasticity, CTCAE
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0005625 alpha-D-Glucopyranose 180.16
The  target protein-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compound? Number of compound in food, higher numbers indicate the food are more associated with the protein