Showing entry for Gephyrin


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT021172
Protein NameGephyrin
Uniport IdQ9NQX3
GeneGPHN
Gene Id10243
DomainMoCF_biosynth; MoeA_C; MoeA_N
Pfam PF00994   PF03454   PF03453  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.8 Metabolism of cofactors and vitamins hsa00790 Folate biosynthesis
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
5. Organismal Systems 5.6 Nervous system hsa04727 GABAergic synapse
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0007529 establishment of synaptic specificity at neuromuscular junction
Biological Process GO:0097112 gamma-aminobutyric acid receptor clustering
Biological Process GO:0072579 glycine receptor clustering
Biological Process GO:0018315 molybdenum incorporation into molybdenum-molybdopterin complex
Biological Process GO:0032324 molybdopterin cofactor biosynthetic process
Biological Process GO:0006777 Mo-molybdopterin cofactor biosynthetic process
Biological Process GO:0098970 postsynaptic neurotransmitter receptor diffusion trapping
Biological Process GO:0010038 response to metal ion
molecular function GO:0005524 ATP binding
molecular function GO:0046872 metal ion binding
molecular function GO:0061598 molybdopterin adenylyltransferase activity
molecular function GO:0043546 molybdopterin cofactor binding
molecular function GO:0061599 molybdopterin molybdotransferase activity
molecular function GO:0008940 nitrate reductase activity
cellular component GO:0099144 anchored component of synaptic membrane
cellular component GO:0005737 cytoplasm
cellular component GO:0005856 cytoskeleton
cellular component GO:0005829 cytosol
cellular component GO:0030425 dendrite
cellular component GO:0005886 plasma membrane
cellular component GO:0014069 postsynaptic density
cellular component GO:0045211 postsynaptic membrane
cellular component GO:0099572 postsynaptic specialization
cellular component GO:0099634 postsynaptic specialization membrane
Reactome
Pathway Id Pathway Name
R-HSA-1430728 Metabolism
R-HSA-196849 Metabolism of water-soluble vitamins and cofactors
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-947581 Molybdenum cofactor biosynthesis
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000786 BXGD000010 Spontaneous abortion Female Urogenital Diseases and Pregnancy Complications
C0001430 BXGD000054 Adenoma Neoplasms
C0001956 BXGD000092 Alcohol Use Disorder Chemically-Induced Disorders; Mental Disorders
C0001973 BXGD000095 Alcoholic Intoxication, Chronic Chemically-Induced Disorders; Mental Disorders
C0002063 BXGD000099 Alkalosis Nutritional and Metabolic Diseases
C0002395 BXGD000111 Alzheimer's Disease Nervous System Diseases; Mental Disorders
C0003467 BXGD000194 Anxiety Behavior and Behavior Mechanisms
C0003469 BXGD000195 Anxiety Disorders Mental Disorders
C0003578 BXGD000211 Apnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0004352 BXGD000269 Autistic Disorder Mental Disorders
C0005890 BXGD000345 Body Height
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0009171 BXGD000587 Cocaine Abuse Chemically-Induced Disorders; Mental Disorders
C0009178 BXGD000589 Cocaine withdrawal Chemically-Induced Disorders; Mental Disorders
C0013404 BXGD000833 Dyspnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0014556 BXGD000932 Epilepsy, Temporal Lobe Nervous System Diseases
C0014868 BXGD000965 Esophagitis Digestive System Diseases
C0015644 BXGD001008 Muscular fasciculation Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0015967 BXGD001030 Fever Pathological Conditions, Signs and Symptoms
C0017168 BXGD001101 Gastroesophageal reflux disease Digestive System Diseases
C0019294 BXGD001314 Hernia, Inguinal Pathological Conditions, Signs and Symptoms
C0020429 BXGD001378 Hyperalgesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0023418 BXGD001642 leukemia Neoplasms
C0023465 BXGD001656 Acute monocytic leukemia Neoplasms
C0023493 BXGD001672 Adult T-Cell Lymphoma/Leukemia Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0026826 BXGD001935 Muscle Hypertonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026837 BXGD001937 Muscle Rigidity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System 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
C0036341 BXGD002600 Schizophrenia Mental Disorders
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037317 BXGD002689 Sleep disturbances Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0038663 BXGD002778 Suicide attempt Behavior and Behavior Mechanisms
C0085648 BXGD003221 Synovial Cyst Neoplasms
C0085762 BXGD003251 Alcohol abuse Chemically-Induced Disorders; Mental Disorders
C0086439 BXGD003284 Hypokinesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0149782 BXGD003365 Squamous cell carcinoma of lung Neoplasms; Respiratory Tract Diseases
C0151818 BXGD003480 Opisthotonus Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0151889 BXGD003498 Hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0152013 BXGD003516 Adenocarcinoma of lung (disorder) Neoplasms
C0162298 BXGD003933 Joint stiffness Musculoskeletal Diseases
C0220787 BXGD004345 Endotracheal aspiration
C0221170 BXGD004400 Muscular stiffness Nervous System Diseases
C0221333 BXGD004441 Hypouricemia Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0232466 BXGD004543 Feeding difficulties
C0234166 BXGD004628 Hyperexplexia Nervous System Diseases
C0235946 BXGD004789 Cerebral atrophy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0236736 BXGD004825 Cocaine-Related Disorders Chemically-Induced Disorders; Mental Disorders
C0266464 BXGD005676 Polymicrogyria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0266470 BXGD005678 Cerebellar Hypoplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0268119 BXGD005821 Combined molybdoflavoprotein enzyme deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0268624 BXGD006014 Sulfite oxidase deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0270850 BXGD006117 Idiopathic generalized epilepsy Nervous System Diseases
C0279629 BXGD006660 Adult Acute Monoblastic Leukemia Neoplasms
C0279645 BXGD006669 Childhood Acute Monoblastic Leukemia
C0392885 BXGD008071 High density lipoprotein measurement
C0393719 BXGD008128 Nocturnal epilepsy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0410702 BXGD008447 Adolescent idiopathic scoliosis Musculoskeletal Diseases
C0424605 BXGD008535 Developmental delay (disorder) Mental Disorders
C0457334 BXGD008888 Acute monoblastic leukemia Neoplasms
C0494475 BXGD009030 Tonic - clonic seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0524528 BXGD009229 Pervasive Development Disorder Mental Disorders
C0543888 BXGD009300 Epileptic encephalopathy Nervous System Diseases
C0557874 BXGD009444 Global developmental delay
C0575081 BXGD009512 Gait abnormality Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0600427 BXGD009706 Cocaine Dependence Chemically-Induced Disorders; Mental Disorders
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0700198 BXGD009877 Pulmonary aspiration Respiratory Tract Diseases
C0700201 BXGD009880 Dyssomnias Nervous System Diseases; Mental Disorders
C0748605 BXGD010200 nocturnal seizures
C0751122 BXGD010325 Infantile Severe Myoclonic Epilepsy Nervous System Diseases
C0850703 BXGD010905 Frequent falls Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0851578 BXGD010925 Sleep Disorders Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C1136249 BXGD011715 Mental Retardation, X-Linked Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1258666 BXGD011825 Myxoid cyst Neoplasms; Skin and Connective Tissue Diseases
C1263846 BXGD011897 Attention deficit hyperactivity disorder Mental Disorders
C1269683 BXGD012001 Major Depressive Disorder Mental Disorders
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1306503 BXGD012363 Congenital exomphalos Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1332977 BXGD012569 Childhood Leukemia Neoplasms
C1445953 BXGD013080 Poor eye contact Mental Disorders
C1510586 BXGD013176 Autism Spectrum Disorders Mental Disorders
C1535926 BXGD013322 Neurodevelopmental Disorders Mental Disorders
C1740801 BXGD013744 Exaggerated startle response
C1835614 BXGD014039 Hereditary Hyperexplexia Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1836038 BXGD014073 Poor head control Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1837461 BXGD014234 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
C1839333 BXGD014369 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 Nervous System Diseases
C1848529 BXGD014935 Hypoplasia of the pons
C1853743 BXGD015358 Muscular hypotonia of the trunk Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1854990 BXGD015447 Molybdenum Cofactor Deficiency, Complementation Group C Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1963221 BXGD016690 Aspiration, CTCAE
C2712334 BXGD017486 Actual Aspiration
C2827071 BXGD017792 Unintentional Material Aspiration
C3489393 BXGD018928 Hiatal Hernia Pathological Conditions, Signs and Symptoms
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3806447 BXGD019511 Increased urinary taurine
C4317109 BXGD022725 Epileptic Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4551915 BXGD023441 Gait Disturbance, CTCAE
C4553743 BXGD023548 Spasticity, CTCAE
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0004269 Propanoic acid 74.08
BXGC0005995 Imidazole 68.08
BXGC0006368 Formic acid 46.03
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