Showing entry for Disks large homolog 3


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT019376
Protein NameDisks large homolog 3
Uniport IdQ92796
GeneDLG3
Gene Id1741
DomainGuanylate_kin; PDZ; PDZ_assoc; SH3_1
Pfam PF00625   PF00595   PF10600   PF00018  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
3. Environmental Information Processing 3.2 Signal transduction hsa04390 Hippo signaling pathway
4. Cellular Processes 4.3 Cellular community - eukaryotes hsa04530 Tight junction
6. Human Diseases 6.9 Infectious diseases: Viral hsa05165 Human papillomavirus infection
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0098609 cell-cell adhesion
Biological Process GO:0001736 establishment of planar polarity
Biological Process GO:0045197 establishment or maintenance of epithelial cell apical/basal polarity
Biological Process GO:0000165 MAPK cascade
Biological Process GO:0008285 negative regulation of cell population proliferation
Biological Process GO:0010923 negative regulation of phosphatase activity
Biological Process GO:0061098 positive regulation of protein tyrosine kinase activity
Biological Process GO:0043113 receptor clustering
Biological Process GO:0097120 receptor localization to synapse
Biological Process GO:2000310 regulation of NMDA receptor activity
Biological Process GO:0099072 regulation of postsynaptic membrane neurotransmitter receptor levels
molecular function GO:0035255 ionotropic glutamate receptor binding
molecular function GO:0019900 kinase binding
molecular function GO:0030165 PDZ domain binding
molecular function GO:0019902 phosphatase binding
molecular function GO:0008022 protein C-terminus binding
molecular function GO:0019903 protein phosphatase binding
molecular function GO:0098919 structural constituent of postsynaptic density
molecular function GO:0031625 ubiquitin protein ligase binding
cellular component GO:0032281 AMPA glutamate receptor complex
cellular component GO:0016323 basolateral plasma membrane
cellular component GO:0005923 bicellular tight junction
cellular component GO:0030054 cell junction
cellular component GO:0005829 cytosol
cellular component GO:0043198 dendritic shaft
cellular component GO:0005615 extracellular space
cellular component GO:0098978 glutamatergic synapse
cellular component GO:0030426 growth cone
cellular component GO:0043025 neuronal cell body
cellular component GO:0005886 plasma membrane
cellular component GO:0099092 postsynaptic density, intracellular component
Reactome
Pathway Id Pathway Name
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-112316 Neuronal System
R-HSA-112316 Neuronal System
R-HSA-1266738 Developmental Biology
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-162582 Signal Transduction
R-HSA-168256 Immune System
R-HSA-373760 L1CAM interactions
R-HSA-422475 Axon guidance
R-HSA-438064 Post NMDA receptor activation events
R-HSA-438066 Unblocking of NMDA receptors, glutamate binding and activation
R-HSA-438066 Unblocking of NMDA receptors, glutamate binding and activation
R-HSA-442742 CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling
R-HSA-442755 Activation of NMDA receptors and postsynaptic events
R-HSA-442755 Activation of NMDA receptors and postsynaptic events
R-HSA-442982 Ras activation upon Ca2+ influx through NMDA receptor
R-HSA-447038 NrCAM interactions
R-HSA-451306 Ionotropic activity of kainate receptors
R-HSA-451308 Activation of Ca-permeable Kainate Receptor
R-HSA-451326 Activation of kainate receptors upon glutamate binding
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-5683057 MAPK family signaling cascades
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-6794361 Neurexins and neuroligins
R-HSA-6794361 Neurexins and neuroligins
R-HSA-6794362 Protein-protein interactions at synapses
R-HSA-6794362 Protein-protein interactions at synapses
R-HSA-8849932 Synaptic adhesion-like molecules
R-HSA-9607240 FLT3 Signaling
R-HSA-9609736 Assembly and cell surface presentation of NMDA receptors
R-HSA-9617324 Negative regulation of NMDA receptor-mediated neuronal transmission
R-HSA-9620244 Long-term potentiation
R-HSA-9675108 Nervous system development
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0002395 BXGD000111 Alzheimer's Disease Nervous System Diseases; Mental Disorders
C0004352 BXGD000269 Autistic Disorder Mental Disorders
C0005586 BXGD000315 Bipolar Disorder Mental Disorders
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007131 BXGD000441 Non-Small Cell Lung Carcinoma Neoplasms; Respiratory Tract Diseases
C0007758 BXGD000475 Cerebellar Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
C0013132 BXGD000799 Drooling Stomatognathic Diseases
C0013421 BXGD000837 Dystonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0014394 BXGD000914 Enuresis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0015469 BXGD000996 Facial paralysis Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
C0016202 BXGD001050 Flatfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0016667 BXGD001072 Fragile X Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0017636 BXGD001131 Glioblastoma Neoplasms
C0020179 BXGD001363 Huntington Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0020429 BXGD001378 Hyperalgesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0024433 BXGD001771 Macrostomia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0025037 BXGD001822 Meckel Diverticulum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive 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
C0026267 BXGD001896 Mitral Valve Prolapse Syndrome Cardiovascular Diseases
C0026351 BXGD001900 Moderate intellectual disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026650 BXGD001913 Movement Disorders Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
C0027765 BXGD002033 nervous system disorder Nervous System Diseases
C0028754 BXGD002082 Obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0030193 BXGD002191 Pain Pathological Conditions, Signs and Symptoms
C0034194 BXGD002472 Pyloric Stenosis Digestive System Diseases
C0034935 BXGD002497 Babinski Reflex
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
C0037769 BXGD002701 West Syndrome Nervous System Diseases
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0041696 BXGD002932 Unipolar Depression Mental Disorders
C0042024 BXGD002949 Urinary Incontinence Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0085136 BXGD003131 Central Nervous System Neoplasms Neoplasms; Nervous System Diseases
C0085584 BXGD003195 Encephalopathies Nervous System Diseases
C0151825 BXGD003481 Bone pain Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0220775 BXGD004344 RUSSELL-SILVER SYNDROME, X-LINKED Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0221355 BXGD004447 Macrocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0233514 BXGD004584 Abnormal behavior Behavior and Behavior Mechanisms
C0235991 BXGD004802 Small for gestational age (disorder) Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
C0239174 BXGD004969 Late tooth eruption
C0265252 BXGD005483 Coffin-Lowry syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0265339 BXGD005523 Borjeson-Forssman-Lehmann syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
C0266449 BXGD005670 Congenital anomaly of brain Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases
C0278878 BXGD006609 Adult Glioblastoma Neoplasms
C0279530 BXGD006628 Malignant Bone Neoplasm Neoplasms; Musculoskeletal Diseases
C0280474 BXGD006748 Childhood Glioblastoma Neoplasms
C0302511 BXGD006849 Small for gestational age fetus Pathological Conditions, Signs and Symptoms
C0334579 BXGD007120 Anaplastic astrocytoma Neoplasms
C0348374 BXGD007870 Malignant Central Nervous System Neoplasm Neoplasms; Nervous System Diseases
C0392885 BXGD008071 High density lipoprotein measurement
C0423110 BXGD008471 Downward slant of palpebral fissure
C0426429 BXGD008564 Broad nasal tip
C0428472 BXGD008630 Serum HDL cholesterol measurement
C0432072 BXGD008718 Dysmorphic features
C0454644 BXGD008850 Delayed speech and language development Behavior and Behavior Mechanisms
C0494475 BXGD009030 Tonic - clonic seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0525045 BXGD009255 Mood Disorders Mental Disorders
C0557874 BXGD009444 Global developmental delay
C0585442 BXGD009593 Osteosarcoma of bone Neoplasms
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0683322 BXGD009782 Mental impairment
C0796135 BXGD010802 Renpenning syndrome 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0796206 BXGD010812 Atkin syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0796207 BXGD010813 MENTAL RETARDATION, X-LINKED 2 (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0796215 BXGD010814 Mental Retardation, X-Linked 9 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0796220 BXGD010815 MENTAL RETARDATION, X-LINKED 14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0796221 BXGD010816 MENTAL RETARDATION, X-LINKED 15
C0796224 BXGD010817 MENTAL RETARDATION, X-LINKED 18
C0796225 BXGD010818 Mental Retardation, X-Linked 19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0796226 BXGD010819 MENTAL RETARDATION, X-LINKED 20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0796229 BXGD010820 MENTAL RETARDATION, X-LINKED 23 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0796237 BXGD010821 Mental Retardation, X-Linked 30 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0796241 BXGD010823 MENTAL RETARDATION, X-LINKED 34 (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0796244 BXGD010824 MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0796249 BXGD010825 Mental Retardation, X-Linked 47 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0796250 BXGD010826 PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0856975 BXGD011127 Autistic behavior Behavior and Behavior Mechanisms
C1136249 BXGD011715 Mental Retardation, X-Linked Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1263846 BXGD011897 Attention deficit hyperactivity disorder Mental Disorders
C1269683 BXGD012001 Major Depressive Disorder Mental Disorders
C1269955 BXGD012005 Tumor Cell Invasion
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1377665 BXGD012925 Childhood Central Nervous System Neoplasm Neoplasms; Nervous System Diseases
C1377678 BXGD012926 Adult Central Nervous System Neoplasm Neoplasms; Nervous System Diseases
C1621958 BXGD013468 Glioblastoma Multiforme Neoplasms
C1836542 BXGD014129 Depressed nasal bridge
C1839082 BXGD014357 MENTAL RETARDATION, X-LINKED 89 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1839130 BXGD014358 Dystonia 3, Torsion, X-Linked Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1839739 BXGD014400 Thick lower lip vermilion
C1845142 BXGD014715 MENTAL RETARDATION, X-LINKED 91 (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1845144 BXGD014716 Mental Retardation, X-Linked 92 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1845181 BXGD014725 MENTAL RETARDATION, X-LINKED 78 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1845286 BXGD014737 MENTAL RETARDATION, X-LINKED 82 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1845297 BXGD014738 MENTAL RETARDATION, X-LINKED 84 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1845333 BXGD014739 Mental Retardation, X-Linked 45 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1845499 BXGD014748 MENTAL RETARDATION, X-LINKED 77 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1845526 BXGD014749 Mental Retardation, X-Linked 46 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1845531 BXGD014750 MENTAL RETARDATION, X-LINKED 81 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1845672 BXGD014758 Mental Retardation, X-Linked 63 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1845810 BXGD014759 MENTAL RETARDATION, X-LINKED 42 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1845860 BXGD014761 MENTAL RETARDATION, X-LINKED 73 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1845862 BXGD014762 Creatine deficiency, X-linked Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1845889 BXGD014765 MENTAL RETARDATION, X-LINKED 53 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1845977 BXGD014769 X- linked recessive
C1846038 BXGD014778 MENTAL RETARDATION, X-LINKED 72 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1846151 BXGD014787 Widened subarachnoid space
C1846174 BXGD014790 Mental Retardation, X-Linked 58 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1848087 BXGD014903 MENTAL RETARDATION, X-LINKED 50 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1848207 BXGD014916 Poor speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1849340 BXGD015039 Long palpebral fissure
C1853242 BXGD015322 Midface retrusion
C1858036 BXGD015763 Periorbital fullness
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1865014 BXGD016282 Long philtrum
C1865017 BXGD016283 Thin upper lip vermilion
C1970841 BXGD016847 MENTAL RETARDATION, X-LINKED 93 (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C2678034 BXGD017393 MENTAL RETARDATION, X-LINKED 95 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C2749020 BXGD017614 Mental Retardation, X-Linked, Znf711-Related Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C2931498 BXGD018030 Mental Retardation, X-Linked 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C3161330 BXGD018511 Profound intellectual disabilities Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3275408 BXGD018662 MENTAL RETARDATION, X-LINKED 96
C3275443 BXGD018665 MENTAL RETARDATION, X-LINKED 90 (disorder)
C3275444 BXGD018666 MENTAL RETARDATION, X-LINKED 88 (disorder)
C3501611 BXGD019023 Mental Retardation, X-Linked Nonsyndromic Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3806730 BXGD019525 MENTAL RETARDATION, X-LINKED 98
C3806746 BXGD019526 MENTAL RETARDATION, X-LINKED 99
C3887939 BXGD019930 MENTAL RETARDATION, X-LINKED 41
C3887959 BXGD019933 MENTAL RETARDATION, X-LINKED 49
C3890167 BXGD020018 MENTAL RETARDATION, X-LINKED 100
C4021538 BXGD020660 Mild neurosensory hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C4021608 BXGD020695 Shortening of all distal phalanges of the fingers
C4021620 BXGD020699 Clinodactyly of the 2nd toe
C4024664 BXGD021362 Moderate sensorineural hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C4316903 BXGD022711 Absence Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4551563 BXGD023351 Microcephaly (physical finding)
C4551570 BXGD023357 2-3 toe syndactyly
C4552072 BXGD023482 X-linked infantile spasms Nervous System Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000436 Glycerol 92.09
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