CAPN3 and DYSF

Data Source:
HPRD (in vivo)

		CAPN3	DYSF
Description		calpain 3	dysferlin
Image
GO Annotations	Cellular Component	Intracellular Anatomical Structure Nucleus Cytoplasm Cytosol Plasma Membrane Myofibril Z Disc T-tubule Protein-containing Complex	Endosome Early Endosome Late Endosome Plasma Membrane Integral Component Of Membrane Endocytic Vesicle T-tubule Cytoplasmic Vesicle Membrane Cytoplasmic Vesicle Centriolar Satellite Sarcolemma Extracellular Exosome
	Molecular Function	Catalytic Activity Calcium-dependent Cysteine-type Endopeptidase Activity Calcium Ion Binding Protein Binding Peptidase Activity Cysteine-type Peptidase Activity Structural Constituent Of Muscle Sodium Ion Binding Titin Binding Ligase Regulator Activity Molecular Adaptor Activity	Calcium Ion Binding Protein Binding Phospholipid Binding Calcium-dependent Phospholipid Binding
	Biological Process	Proteolysis Apoptotic Process Muscle Organ Development Positive Regulation Of Satellite Cell Activation Involved In Skeletal Muscle Regeneration Response To Muscle Activity Protein Catabolic Process Myofibril Assembly Protein Destabilization Negative Regulation Of Protein Sumoylation Negative Regulation Of Apoptotic Process Regulation Of I-kappaB Kinase/NF-kappaB Signaling Sarcomere Organization Regulation Of Myoblast Differentiation Positive Regulation Of Proteolysis Negative Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription, DNA-templated Muscle Cell Cellular Homeostasis Regulation Of Catalytic Activity Positive Regulation Of NF-kappaB Transcription Factor Activity Positive Regulation Of Release Of Sequestered Calcium Ion Into Cytosol Response To Calcium Ion Muscle Structure Development Protein-containing Complex Assembly G1 To G0 Transition Involved In Cell Differentiation Cellular Response To Calcium Ion Cellular Response To Salt Stress Protein Localization To Membrane Self Proteolysis Calcium-dependent Self Proteolysis	Plasma Membrane Repair Monocyte Activation Involved In Immune Response Macrophage Activation Involved In Immune Response Vesicle Fusion Muscle Contraction Plasma Membrane Organization T-tubule Organization Negative Regulation Of Phagocytosis Membrane Fusion
Pathways		Degradation of the extracellular matrix	Smooth Muscle Contraction Smooth Muscle Contraction
Drugs		L-aminocarnityl-succinyl-leucyl-argininal-diethylacetal
Diseases		Calpainopathy; Limb-girdle muscular dystrophy 2A (LGMD2A) Limb-girdle muscular dystrophy (LGMD)	Distal muscular dystrophies, including: Welander distal myopathy (WDM); Tibial muscular dystrophy (TMD); Nonaka distal myopathy with rimmed vacuoles (DMRV); Miyoshi myopathy (MM); Laing myopathy (MPD1); Distal nebulin myopathy (DNM); Distal desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Distal myotilinopathy (MFM3); Distal zaspopathy (MFM4); Distal myopathy 3 (MPD2, VCPDM) Dysferlinopathies, including: Miyoshi myopathy (MM); Limb-girdle muscular dystrophy (LGMD) 2B; Distal myopathy with anterior tibial onset (DMAT) Limb-girdle muscular dystrophy (LGMD)
GWAS		Fibrinogen levels ( 28107422 26561523) Granulocyte percentage of myeloid white cells ( 27863252) HDL cholesterol levels ( 30698716) HDL cholesterol levels in current drinkers ( 30698716) HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) ( 30698716) HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) ( 30698716) Metabolite levels ( 23823483) Monocyte count ( 27863252) Monocyte percentage of white cells ( 32888494 27863252) Triglyceride levels ( 32203549 30698716) Triglyceride levels in current drinkers ( 30698716) Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) ( 30698716) Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) ( 30698716) Triglyceride levels x short total sleep time interaction (2df test) ( 31719535) Triglycerides ( 24097068 25961943 20686565)	Asthma ( 32296059) Extremely high intelligence ( 29520040) General cognitive ability ( 29844566) Hip circumference adjusted for BMI ( 28552196) Nonalcoholic steatohepatitis-derived hepatocellular carcinoma ( 29385134) PR interval in Tripanosoma cruzi seropositivity ( 24324551) Protein quantitative trait loci ( 18464913) Urate levels in overweight individuals ( 25811787)
Interacting Genes		30 interacting genes: AMOT C1QTNF9 CCDC102B CEP76 CMYA5 CRYAB DYSF EXOC8 FLNC FNDC3B GTPBP3 KANK2 MAP1LC3C MMP2 MYBPC1 MYBPH NECAB2 NTAQ1 OSGIN1 POMP PREPL PSMC3 PSMD1 RNF167 RUFY3 TFCP2 TRIM55 TRIM63 TTN YWHAQ	40 interacting genes: AKAP1 ANKRD1 ANXA1 ANXA2 APPL1 CAPN3 CAV3 CMYA5 COL12A1 COL6A3 DGKD DHX15 DNAJB6 EEF1A1 EEF1G FAM120A GNL3 KARS1 KIF1B MORF4L1 MYBPC1 MYBPC2 MYH3 MYOM1 MYOM2 NPHP3 OPTN OS9 PHF1 PLP1 RNF10 RNF2 SAMHD1 SGCG SLC12A6 SNAPIN TAF1 XIRP2 XRCC6 ZNF23
Entrez ID		825	8291
HPRD ID		00255	04307
Ensembl ID		ENSG00000092529	ENSG00000135636
Uniprot IDs		A0A0S2Z3E1 P20807	O75923
PDB IDs		1Y9V 4OKH 6BDT 6BGP 6BJD 6BKJ	4CAH 4CAI 4IHB 4IQH
Enriched GO Terms of Interacting Partners?
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