Showing entry for SH3 and cysteine-rich domain-containing protein 3


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT025769
Protein NameSH3 and cysteine-rich domain-containing protein 3
Uniport IdQ96MF2
GeneSTAC3
Gene Id246329
DomainC1_1; SH3_1; SH3_2; STAC2_u1
Pfam PF00130   PF00018   PF07653  
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:0035556 intracellular signal transduction
Biological Process GO:0007274 neuromuscular synaptic transmission
Biological Process GO:1903078 positive regulation of protein localization to plasma membrane
Biological Process GO:1901387 positive regulation of voltage-gated calcium channel activity
Biological Process GO:0003009 skeletal muscle contraction
Biological Process GO:0048741 skeletal muscle fiber development
molecular function GO:0042802 identical protein binding
molecular function GO:0046872 metal ion binding
cellular component GO:0005829 cytosol
cellular component GO:0031234 extrinsic component of cytoplasmic side of plasma membrane
cellular component GO:0005654 nucleoplasm
cellular component GO:0045202 synapse
cellular component GO:0030315 T-tubule
cellular component GO:0005891 voltage-gated calcium channel complex
Reactome
Pathway Id Pathway Name
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0003886 BXGD000238 Arthrogryposis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0005744 BXGD000330 Blepharophimosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0007820 BXGD000491 Cerebrovascular Disorders Nervous System Diseases; Cardiovascular Diseases
C0008925 BXGD000575 Cleft Palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0009081 BXGD000581 Congenital clubfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0013362 BXGD000817 Dysarthria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0017168 BXGD001101 Gastroesophageal reflux disease Digestive System Diseases
C0018777 BXGD001217 Conductive hearing loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0019209 BXGD001305 Hepatomegaly Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0023893 BXGD001716 Liver Cirrhosis, Experimental Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0023903 BXGD001720 Liver neoplasms Digestive System Diseases; Neoplasms
C0024591 BXGD001789 Malignant hyperpyrexia due to anesthesia Pathological Conditions, Signs and Symptoms
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0025990 BXGD001884 Micrognathism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0026106 BXGD001889 Mild Mental Retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026764 BXGD001928 Multiple Myeloma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026848 BXGD001941 Myopathy Musculoskeletal Diseases; Nervous System Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0035229 BXGD002516 Respiratory Insufficiency Respiratory Tract Diseases
C0086437 BXGD003282 Joint laxity Musculoskeletal Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0151888 BXGD003497 Hyporeflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0221060 BXGD004384 Mobius Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases
C0221356 BXGD004448 Brachycephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221369 BXGD004453 Acquired Camptodactyly
C0232466 BXGD004543 Feeding difficulties
C0236734 BXGD004823 Caffeine related disorders
C0238358 BXGD004917 Hypokalemic periodic paralysis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0239234 BXGD004974 Low set ears
C0240635 BXGD005047 Byzanthine arch palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C0270960 BXGD006141 Congenital myopathy (disorder) Musculoskeletal Diseases; Nervous System Diseases
C0270971 BXGD006146 Floppy infant syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0332615 BXGD006898 Myopathic facies
C0333068 BXGD006920 Flexion contracture Musculoskeletal Diseases
C0333751 BXGD006966 Muscle fiber atrophy
C0345392 BXGD007732 Congenital kyphoscoliosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0345904 BXGD007745 Malignant neoplasm of liver Digestive System Diseases; Neoplasms
C0349588 BXGD007933 Short stature
C0423110 BXGD008471 Downward slant of palpebral fissure
C0423112 BXGD008472 Short palpebral fissure
C0423113 BXGD008473 Telecanthus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0427055 BXGD008601 Facial Paresis Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
C0432072 BXGD008718 Dysmorphic features
C0520947 BXGD009126 Clumsiness - motor delay Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0541794 BXGD009262 Skeletal muscle atrophy
C0575158 BXGD009515 Kyphoscoliosis deformity of spine Musculoskeletal Diseases
C0600033 BXGD009682 Acquired Kyphoscoliosis Musculoskeletal Diseases
C0679427 BXGD009777 myeloblastosis Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
C0685409 BXGD009810 Congenital Camptodactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1301937 BXGD012300 Talipes Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1609528 BXGD013441 Restrictive deficit on pulmonary function testing Respiratory Tract Diseases
C1850625 BXGD015160 Native American myopathy Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C1850746 BXGD015174 Myopathy, congenital nonprogressive with Moebius and Robin sequences Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C1853242 BXGD015322 Midface retrusion
C1854301 BXGD015391 Motor delay Mental Disorders
C1857025 BXGD015666 Progressive congenital scoliosis Musculoskeletal Diseases
C1861443 BXGD016046 Facial hemangioma Neoplasms
C1865916 BXGD016355 Bilateral ptosis Eye Diseases
C1866195 BXGD016385 Downturned corners of mouth
C1866934 BXGD016427 Reduced tendon reflexes Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2919142 BXGD017867 Short Stature, CTCAE
C4023051 BXGD021084 Abnormality of skeletal muscle fiber size
C4023175 BXGD021136 Submucous cleft soft palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C4025138 BXGD021564 Multiple skeletal anomalies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4551488 BXGD023314 Bifid uvula
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0003705 Chloride 35.45
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