Human Phenotype Ontology 
Grandparent Node:
expandAbnormal muscle fiber morphology (HP:0004303)help
Parent Node:
expandAbnormal muscle fiber protein expression (HP:0030089)help
..Starting node
..expandAbnormal muscle fiber calpain-3 (HP:0030119)help
Term ID: 30119
Name: Abnormal muscle fiber calpain-3
Synonym: Abnormal muscle fibre calpain-3
Definition: A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates.
Comments:
Reference: HP:0030119
Genes and Diseases:
 
       Child Nodes:
........expandAbsent muscle fiber calpain-3 (HP:0030120) help
........expandReduced muscle fiber calpain-3 (HP:0030121) help

 Sister Nodes: 
..expandAbnormal muscle fiber alpha dystroglycan (HP:0030112) help
..expandAbnormal muscle fiber alpha sarcoglycan (HP:0030100) help
..expandAbnormal muscle fiber beta sarcoglycan (HP:0030103) help
..expandAbnormal muscle fiber delta sarcoglycan (HP:0030105) help
..expandAbnormal muscle fiber desmin (HP:0030224) help
..expandAbnormal muscle fiber dysferlin (HP:0030113) help
..expandAbnormal muscle fiber dystrophin expression (HP:0030096) help
..expandAbnormal muscle fiber emerin (HP:0030116) help
..expandAbnormal muscle fiber gamma sarcoglycan (HP:0030104) help
..expandAbnormal muscle fiber lamin A/C (HP:0030123) help
..expandAbnormal muscle fiber laminin beta 1 (HP:0030093) help
..expandAbnormal muscle fiber merosin expression (HP:0030090) help
..expandAbnormal muscle fiber myotilin (HP:0030226) help
..expandAbnormal muscle fiber valosin-containing protein (HP:0030228) help
..expandReduced muscle collagen VI (HP:0030095) help
..expandReduced muscle fiber perlecan (HP:0030122) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030119HP:0030119Abnormal muscle fiber calpain-30 CL E G H
HP:0030119HP:0030121Reduced muscle fiber calpain-31 CL E G H
HP:0030119HP:0030120Absent muscle fiber calpain-31 CL E G H


Genes (0) :

Diseases (0) :
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.