Showing entry for Dysferlin


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT005166
Protein NameDysferlin
Uniport IdO75923
GeneDYSF
Gene Id8291
DomainC2; FerA; FerB; FerI; Ferlin_C
Pfam PF00168   PF08165   PF08150   PF08151   PF16165  
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:0001525 angiogenesis
Biological Process GO:0071470 cellular response to osmotic stress
Biological Process GO:0050663 cytokine secretion
Biological Process GO:0045444 fat cell differentiation
Biological Process GO:0006071 glycerol metabolic process
Biological Process GO:0019915 lipid storage
Biological Process GO:0002281 macrophage activation involved in immune response
Biological Process GO:0061025 membrane fusion
Biological Process GO:0002280 monocyte activation involved in immune response
Biological Process GO:0006936 muscle contraction
Biological Process GO:0048747 muscle fiber development
Biological Process GO:0010629 negative regulation of gene expression
Biological Process GO:1901842 negative regulation of high voltage-gated calcium channel activity
Biological Process GO:0050765 negative regulation of phagocytosis
Biological Process GO:0042177 negative regulation of protein catabolic process
Biological Process GO:1902915 negative regulation of protein polyubiquitination
Biological Process GO:0007009 plasma membrane organization
Biological Process GO:0001778 plasma membrane repair
Biological Process GO:0045785 positive regulation of cell adhesion
Biological Process GO:0001938 positive regulation of endothelial cell proliferation
Biological Process GO:0090023 positive regulation of neutrophil chemotaxis
Biological Process GO:0090279 regulation of calcium ion import
Biological Process GO:0043403 skeletal muscle tissue regeneration
Biological Process GO:0033292 T-tubule organization
Biological Process GO:0006906 vesicle fusion
molecular function GO:0043014 alpha-tubulin binding
molecular function GO:0005544 calcium-dependent phospholipid binding
molecular function GO:0005509 calcium ion binding
molecular function GO:0008017 microtubule binding
molecular function GO:0005543 phospholipid binding
cellular component GO:0034451 centriolar satellite
cellular component GO:0031410 cytoplasmic vesicle
cellular component GO:0030659 cytoplasmic vesicle membrane
cellular component GO:0005769 early endosome
cellular component GO:0030139 endocytic vesicle
cellular component GO:0005768 endosome
cellular component GO:0070062 extracellular exosome
cellular component GO:0005794 Golgi apparatus
cellular component GO:0016021 integral component of membrane
cellular component GO:0030027 lamellipodium
cellular component GO:0005770 late endosome
cellular component GO:0098857 membrane microdomain
cellular component GO:0005874 microtubule
cellular component GO:0005634 nucleus
cellular component GO:0005886 plasma membrane
cellular component GO:0042383 sarcolemma
cellular component GO:0030315 T-tubule
Reactome
Pathway Id Pathway Name
R-HSA-397014 Muscle contraction
R-HSA-397014 Muscle contraction
R-HSA-445355 Smooth Muscle Contraction
R-HSA-445355 Smooth Muscle Contraction
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0002395 BXGD000111 Alzheimer's Disease Nervous System Diseases; Mental Disorders
C0002726 BXGD000125 Amyloidosis Nutritional and Metabolic Diseases
C0003811 BXGD000222 Cardiac Arrhythmia Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0005890 BXGD000345 Body Height
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0007222 BXGD000454 Cardiovascular Diseases Cardiovascular Diseases
C0008489 BXGD000546 Chorea Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic Diseases
C0011633 BXGD000742 Dermatomyositis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0013264 BXGD000808 Muscular Dystrophy, Duchenne Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0015672 BXGD001011 Fatigue Pathological Conditions, Signs and Symptoms
C0018798 BXGD001223 Congenital Heart Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0018800 BXGD001225 Cardiomegaly Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0018801 BXGD001226 Heart failure Cardiovascular Diseases
C0018802 BXGD001227 Congestive heart failure Cardiovascular Diseases
C0021704 BXGD001510 Intelligence Behavior and Behavior Mechanisms
C0022821 BXGD001590 Kyphosis deformity of spine Musculoskeletal Diseases
C0023893 BXGD001716 Liver Cirrhosis, Experimental Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0024003 BXGD001726 Lordosis Musculoskeletal Diseases
C0026769 BXGD001930 Multiple Sclerosis Immune System Diseases; Nervous System Diseases
C0026847 BXGD001940 Spinal Muscular Atrophy Nervous System Diseases
C0026848 BXGD001941 Myopathy Musculoskeletal Diseases; Nervous System Diseases
C0026850 BXGD001942 Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0027121 BXGD001973 Myositis Musculoskeletal Diseases; Nervous System Diseases
C0027126 BXGD001976 Myotonic Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0027721 BXGD002029 Lipoid nephrosis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0027868 BXGD002053 Neuromuscular Diseases Nervous System Diseases
C0030297 BXGD002204 Pancreatic Neoplasm Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0030552 BXGD002238 Paresis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0033626 BXGD002412 Protein Deficiency Nutritional and Metabolic Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0039273 BXGD002806 Talipes cavus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0041234 BXGD002901 Chagas Disease Infections
C0042023 BXGD002948 Increased frequency of micturition Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0085615 BXGD003206 Right bundle branch block Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0085655 BXGD003226 Polymyositis Musculoskeletal Diseases; Nervous System Diseases
C0087031 BXGD003319 Juvenile-Onset Still Disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0162429 BXGD003942 Malnutrition Nutritional and Metabolic Diseases
C0162770 BXGD003980 Right Ventricular Hypertrophy Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0205858 BXGD004135 General Paralysis Infections; Nervous System Diseases
C0221054 BXGD004381 Welander Distal Myopathy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0221056 BXGD004383 Adult type dermatomyositis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0221629 BXGD004467 Proximal muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0231531 BXGD004498 Muscle fibrillation Nervous System Diseases
C0232197 BXGD004536 Fibrillation Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0234958 BXGD004702 Muscle degeneration Musculoskeletal Diseases
C0239067 BXGD004961 Difficulty walking up stairs Pathological Conditions, Signs and Symptoms
C0240953 BXGD005067 Winged scapula
C0241005 BXGD005072 Creatine phosphokinase serum increased
C0241237 BXGD005088 Difficulty standing Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0265673 BXGD005563 Congenital kyphosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0268425 BXGD005943 Alstrom Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C0270960 BXGD006141 Congenital myopathy (disorder) Musculoskeletal Diseases; Nervous System Diseases
C0279702 BXGD006685 Conventional (Clear Cell) Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0311394 BXGD006884 Difficulty walking Pathological Conditions, Signs and Symptoms
C0339528 BXGD007261 X-linked retinitis pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0410158 BXGD008408 Muscle damage
C0410173 BXGD008409 Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
C0410174 BXGD008410 Fukuyama Type Congenital Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C0427055 BXGD008601 Facial Paresis Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
C0427063 BXGD008602 Shoulder girdle weakness
C0427064 BXGD008603 Pelvic girdle weakness Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0427065 BXGD008604 Distal muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0427144 BXGD008607 Toe-walking gait
C0429087 BXGD008647 Electrocardiogram: P-R interval
C0522055 BXGD009189 Electrocardiogram abnormal Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0558845 BXGD009459 Reflex, Ankle, Absent Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0560346 BXGD009475 Difficulty running Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0577655 BXGD009536 Quadriceps weakness Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0586738 BXGD009611 Calf muscle weakness Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0596887 BXGD009648 mathematical ability
C0686353 BXGD009833 Muscular Dystrophies, Limb-Girdle Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0700251 BXGD009883 Brachial Plexus Neuropathies Nervous System Diseases
C0750403 BXGD010235 Proximal weakness
C0751336 BXGD010392 Distal Muscular Dystrophies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0751713 BXGD010564 Inclusion Body Myopathy, Sporadic Musculoskeletal Diseases; Nervous System Diseases
C0877009 BXGD011326 Muscle fibrosis
C0878544 BXGD011368 Cardiomyopathies Cardiovascular Diseases
C0917713 BXGD011404 Becker Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1263858 BXGD011901 Muscular dystrophy congenital, merosin negative Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1285162 BXGD012167 Degenerative disorder Pathological Conditions, Signs and Symptoms
C1389118 BXGD012966 Peroneal muscle atrophy
C1832525 BXGD013850 Limb-girdle muscular dystrophy type 2F Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
C1832567 BXGD013853 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1834536 BXGD013977 Weakness of the intrinsic hand muscles
C1836057 BXGD014076 Muscle fiber splitting
C1836156 BXGD014085 Progressive proximal muscle weakness
C1836296 BXGD014105 Muscle Weakness Lower Limb Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1836450 BXGD014117 Distal lower limb muscle weakness
C1837323 BXGD014220 Decreased Achilles reflex
C1838681 BXGD014337 Rapidly progressive
C1843057 BXGD014552 Calf muscle hypertrophy
C1843570 BXGD014595 Tip-toe gait
C1843637 BXGD014597 Neck flexor weakness
C1843700 BXGD014604 Increased variability in muscle fiber diameter
C1847532 BXGD014873 MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1848736 BXGD014970 Distal amyotrophy
C1849097 BXGD015006 Loss of ability to walk
C1849955 BXGD015094 Limited elbow movement
C1850794 BXGD015178 Proximal amyotrophy
C1850808 BXGD015179 Miyoshi myopathy
C1850816 BXGD015180 Decreased/absent ankle reflexes
C1850830 BXGD015181 Exercise-induced myalgia Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1850889 BXGD015185 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1851542 BXGD015217 Limited hip movement
C1852502 BXGD015286 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT Musculoskeletal Diseases; Stomatognathic Diseases
C1853698 BXGD015351 Rippling muscle disease Musculoskeletal Diseases; Nervous System Diseases
C1854494 BXGD015409 Slow progression
C1858025 BXGD015760 Spinal rigidity
C1858127 BXGD015775 Limb-girdle muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1858593 BXGD015813 Limb-girdle muscular dystrophy, type 2E Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
C1861922 BXGD016094 CAMPOMELIC DYSPLASIA Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1864716 BXGD016245 Intrinsic hand muscle atrophy
C1866010 BXGD016360 Proximal muscle weakness in lower limbs
C1866012 BXGD016361 Proximal muscle weakness in upper limbs
C1866021 BXGD016363 Increased connective tissue
C1866141 BXGD016379 Foot dorsiflexor weakness
C1866934 BXGD016427 Reduced tendon reflexes Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1869123 BXGD016553 Limb-girdle muscular dystrophy type 2A Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1968606 BXGD016720 Limited knee flexion/extension
C2230441 BXGD016958 Triceps weakness
C2827469 BXGD017798 Coronary Microvascular Disease
C2931687 BXGD018048 Dysferlinopathy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C2931852 BXGD018079 Clear-cell metastatic renal cell carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C2936331 BXGD018106 Sarcoglycanopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
C2936332 BXGD018107 Alpha-Sarcoglycanopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
C2936349 BXGD018109 Plaque, Amyloid Pathological Conditions, Signs and Symptoms
C3150620 BXGD018314 Distal upper limb muscle weakness
C3266262 BXGD018600 Multiple Chronic Conditions Pathological Conditions, Signs and Symptoms
C3495559 BXGD018994 Juvenile arthritis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C3714758 BXGD019431 Juvenile psoriatic arthritis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C4021581 BXGD020683 Distal upper limb amyotrophy
C4021726 BXGD020735 EMG: myopathic abnormalities Musculoskeletal Diseases; Nervous System Diseases
C4021979 BXGD020855 Muscular edema Pathological Conditions, Signs and Symptoms
C4022631 BXGD020941 Absent muscle fiber dysferlin
C4022792 BXGD020999 Reduced ejection fraction
C4023375 BXGD021167 Tibialis atrophy
C4024612 BXGD021343 Tibialis muscle weakness
C4273680 BXGD022335 Autosomal recessive limb girdle muscular dystrophy type 2B
C4477022 BXGD022906 Finger flexor weakness
C4551973 BXGD023459 Miyoshi Muscular Dystrophy 1 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C4552091 BXGD023485 Polyarthritis, Juvenile, Rheumatoid Factor Negative Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C4704862 BXGD023681 Polyarthritis, Juvenile, Rheumatoid Factor Positive Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002586 Calcium 40.08
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