Showing entry for Microcephalin


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT018555
Protein NameMicrocephalin
Uniport IdQ8NEM0
GeneMCPH1
Gene Id79648
DomainBRCT_2; Microcephalin; PTCB-BRCT
Pfam PF16589   PF12258   PF12738  
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:0060348 bone development
Biological Process GO:0021987 cerebral cortex development
Biological Process GO:0000132 establishment of mitotic spindle orientation
Biological Process GO:0000278 mitotic cell cycle
Biological Process GO:0071850 mitotic cell cycle arrest
Biological Process GO:0000122 negative regulation of transcription by RNA polymerase II
Biological Process GO:0097150 neuronal stem cell population maintenance
Biological Process GO:0071539 protein localization to centrosome
Biological Process GO:0046605 regulation of centrosome cycle
Biological Process GO:0060623 regulation of chromosome condensation
Biological Process GO:0050727 regulation of inflammatory response
Biological Process GO:0043549 regulation of kinase activity
molecular function GO:0042802 identical protein binding
cellular component GO:0005737 cytoplasm
cellular component GO:0005815 microtubule organizing center
cellular component GO:0005654 nucleoplasm
Reactome
Pathway Id Pathway Name
R-HSA-1640170 Cell Cycle
R-HSA-2299718 Condensation of Prophase Chromosomes
R-HSA-68875 Mitotic Prophase
R-HSA-68886 M Phase
R-HSA-69278 Cell Cycle, Mitotic
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0002792 BXGD000129 anaphylaxis Immune System Diseases
C0004114 BXGD000255 Astrocytoma Neoplasms
C0004352 BXGD000269 Autistic Disorder Mental Disorders
C0004936 BXGD000295 Mental disorders Mental Disorders
C0005586 BXGD000315 Bipolar Disorder Mental Disorders
C0005612 BXGD000317 Birth Weight Pathological Conditions, Signs and Symptoms
C0005684 BXGD000319 Malignant neoplasm of urinary bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0005695 BXGD000323 Bladder Neoplasm Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0005859 BXGD000342 Bloom Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
C0006012 BXGD000360 Borderline Personality Disorder Mental Disorders
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006287 BXGD000390 Bronchopulmonary Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007097 BXGD000424 Carcinoma Neoplasms
C0007131 BXGD000441 Non-Small Cell Lung Carcinoma Neoplasms; Respiratory Tract Diseases
C0007134 BXGD000443 Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0007137 BXGD000445 Squamous cell carcinoma Neoplasms
C0008626 BXGD000559 Congenital chromosomal disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
C0010709 BXGD000689 Cyst Pathological Conditions, Signs and Symptoms; Neoplasms
C0011570 BXGD000729 Mental Depression Behavior and Behavior Mechanisms
C0011581 BXGD000733 Depressive disorder Mental Disorders
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0017638 BXGD001132 Glioma Neoplasms
C0017654 BXGD001136 Glomerular Filtration Rate
C0020538 BXGD001422 Hypertensive disease Cardiovascular Diseases
C0020557 BXGD001432 Hypertriglyceridemia Nutritional and Metabolic Diseases
C0023434 BXGD001643 Chronic Lymphocytic Leukemia Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0023473 BXGD001661 Myeloid Leukemia, Chronic Neoplasms; Hemic and Lymphatic Diseases
C0023530 BXGD001683 Leukopenia Hemic and Lymphatic Diseases
C0024530 BXGD001783 Malaria Infections
C0024899 BXGD001812 Mastocytosis Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases
C0025268 BXGD001846 Multiple Endocrine Neoplasia Type 2a Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
C0025362 BXGD001866 Mental Retardation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0027627 BXGD002006 Neoplasm Metastasis Pathological Conditions, Signs and Symptoms; Neoplasms
C0027651 BXGD002009 Neoplasms Neoplasms
C0027819 BXGD002043 Neuroblastoma Neoplasms
C0027947 BXGD002061 Neutropenia Hemic and Lymphatic Diseases
C0029442 BXGD002151 Osteomalacia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
C0029882 BXGD002177 Otitis Media Otorhinolaryngologic Diseases
C0029883 BXGD002178 Otitis Media with Effusion Otorhinolaryngologic Diseases
C0030297 BXGD002204 Pancreatic Neoplasm Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0030567 BXGD002240 Parkinson Disease Nervous System Diseases
C0033975 BXGD002447 Psychotic Disorders Mental Disorders
C0035344 BXGD002541 Retinopathy of Prematurity Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0036341 BXGD002600 Schizophrenia Mental Disorders
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0036857 BXGD002638 Severe intellectual disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0038443 BXGD002757 Stress, Psychological Behavior and Behavior Mechanisms
C0040420 BXGD002861 Tonometry
C0042580 BXGD002992 Vesico-Ureteral Reflux Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0079731 BXGD003087 B-Cell Lymphomas Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0151889 BXGD003498 Hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0162770 BXGD003980 Right Ventricular Hypertrophy Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0175754 BXGD004015 Agenesis of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0178874 BXGD004037 Tumor Progression Pathological Conditions, Signs and Symptoms
C0235527 BXGD004753 Heart Failure, Right-Sided Cardiovascular Diseases
C0235974 BXGD004796 Pancreatic carcinoma Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0238462 BXGD004937 Medullary carcinoma of thyroid Neoplasms; Endocrine System Diseases
C0242379 BXGD005157 Malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C0265202 BXGD005461 Seckel syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
C0266294 BXGD005644 Unilateral agenesis of kidney Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0266483 BXGD005680 Pachygyria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0266491 BXGD005683 Neuronal heterotopia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0267026 BXGD005727 Actinic cheilitis Stomatognathic Diseases
C0271844 BXGD006269 Parathyroid hyperplasia Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases
C0272285 BXGD006336 Heparin-induced thrombocytopenia Hemic and Lymphatic Diseases
C0332840 BXGD006900 Amputated structure (morphologic abnormality) Wounds and Injuries
C0342791 BXGD007554 Carnitine-Acylcarnitine Translocase Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0344315 BXGD007666 Depressed mood Behavior and Behavior Mechanisms
C0346153 BXGD007781 Breast Cancer, Familial Neoplasms; Skin and Connective Tissue Diseases
C0346647 BXGD007832 Malignant neoplasm of pancreas Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0349204 BXGD007892 Nonorganic psychosis Mental Disorders
C0349588 BXGD007933 Short stature
C0376356 BXGD007991 Premenstrual Tension Pathological Conditions, Signs and Symptoms
C0398791 BXGD008233 Nijmegen Breakage Syndrome Nutritional and Metabolic Diseases
C0423109 BXGD008470 Upward slant of palpebral fissure
C0428883 BXGD008639 Diastolic blood pressure
C0431350 BXGD008668 Primary microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0521158 BXGD009130 Recurrent tumor
C0524620 BXGD009236 Metabolic Syndrome X Nutritional and Metabolic Diseases
C0555198 BXGD009432 Malignant Glioma Neoplasms
C0557874 BXGD009444 Global developmental delay
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0677886 BXGD009734 Epithelial ovarian cancer Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0684249 BXGD009790 Carcinoma of lung Neoplasms; Respiratory Tract Diseases
C0699885 BXGD009869 Carcinoma of bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0700095 BXGD009875 Central neuroblastoma Neoplasms; Nervous System Diseases
C0740457 BXGD010000 Malignant neoplasm of kidney Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0746883 BXGD010153 Febrile Neutropenia Hemic and Lymphatic Diseases
C0871470 BXGD011316 Systolic Pressure
C0917816 BXGD011419 Mental deficiency Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0919267 BXGD011426 ovarian neoplasm Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C1134719 BXGD011688 Invasive Ductal Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C1140680 BXGD011718 Malignant neoplasm of ovary Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C1176475 BXGD011798 Ductal Carcinoma Neoplasms
C1269955 BXGD012005 Tumor Cell Invasion
C1274103 BXGD012021 Oncogenic osteomalacia Neoplasms; Skin and Connective Tissue Diseases
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1306460 BXGD012362 Primary malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C1336076 BXGD012828 Sporadic Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C1378703 BXGD012933 Renal carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1442907 BXGD013063 Foreign body giant cell granuloma Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases; Wounds and Injuries
C1458155 BXGD013136 Mammary Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C1510586 BXGD013176 Autism Spectrum Disorders Mental Disorders
C1519670 BXGD013241 Tumor Angiogenesis Pathological Conditions, Signs and Symptoms
C1531647 BXGD013301 Cerebral ventriculomegaly Nervous System Diseases
C1535926 BXGD013322 Neurodevelopmental Disorders Mental Disorders
C1831619 BXGD013794 Phosphaturic Mesenchymal Tumor
C1833921 BXGD013946 Familial medullary thyroid carcinoma Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
C1837501 BXGD014241 Microcephaly, Primary Autosomal Recessive, 5 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1837503 BXGD014242 Small cerebral cortex
C1842981 BXGD014547 NEUROTICISM Behavior and Behavior Mechanisms
C1849172 BXGD015019 Frontal lobe hypoplasia
C1855081 BXGD015455 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1857679 BXGD015735 Sloping forehead
C1865017 BXGD016283 Thin upper lip vermilion
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2827407 BXGD017795 Infectious Otitis Media Otorhinolaryngologic Diseases
C2919142 BXGD017867 Short Stature, CTCAE
C2973725 BXGD018205 Pulmonary arterial hypertension Respiratory Tract Diseases; Cardiovascular Diseases
C3203102 BXGD018555 Idiopathic pulmonary arterial hypertension Respiratory Tract Diseases
C3278923 BXGD018748 Dilated ventricles (finding)
C3548479 BXGD019120 response to bronchodilator
C3711376 BXGD019383 Isodicentric Chromosome 15 Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C3711387 BXGD019391 Autosomal Recessive Primary Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3887650 BXGD019911 Adult Rickets Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C3888391 BXGD019969 Nonnuclear polymorphic congenital cataract
C4021085 BXGD020544 Abnormality of brain morphology
C4021741 BXGD020749 Abnormal cortical bone morphology
C4025613 BXGD021694 Increased rate of premature chromosome condensation
C4048306 BXGD021902 Multiple endocrine neoplasia Type 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
C4086152 BXGD022123 Childhood Astrocytoma Neoplasms
C4086165 BXGD022126 Childhood Neuroblastoma Neoplasms
C4551683 BXGD023389 Adrenal Gland Pheochromocytoma Neoplasms; Endocrine System Diseases
C4721414 BXGD023738 Mantle cell lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C4721610 BXGD023760 Carcinoma, Ovarian Epithelial Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000436 Glycerol 92.09
BXGC0003705 Chloride 35.45
BXGC0049447 acetate 59.01
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