CAPN3 - calpain 3 Gene

Also Known as p94; CANP3; LGMD2; nCL-1; CANPL3; LGMD2A; LGMDD4; LGMDR1

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 825

About CAPN3

Cytogenetic location: 15q15.1 Genomic coordinates (GRCh38): 15:42,359,501-42,412,317 (from NCBI)

This gene has 59 transcripts (splice variants), 292 orthologues, 20 paralogues and is associated with 4 phenotypes. Broad expression in bone marrow (RPKM 19.1), kidney (RPKM 13.9) and 24 other tissues.

Summary

Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008]

CAPN3 Products (6)

mRNA	Protein	Name
NM_000070.3	NP_000061.1	calpain-3 isoform a
NM_024344.2	NP_077320.1	calpain-3 isoform b
NM_173087.2	NP_775110.1	calpain-3 isoform c
NM_173088.2	NP_775111.1	calpain-3 isoform d
NM_173089.2	NP_775112.1	calpain-3 isoform e
NM_173090.2	NP_775113.1	calpain-3 isoform e

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables catalytic activity	IDA IDA: Inferred from direct assay	9642272	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables ligase regulator activity	IDA IDA: Inferred from direct assay	20694146	GOA
enables peptidase activity	IDA IDA: Inferred from direct assay	9642272	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20860623	GOA
enables titin binding	IPI IPI: Inferred from physical interaction	9642272	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in calcium-dependent self proteolysis	IDA IDA: Inferred from direct assay	12482600	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	18073330	GOA
involved in negative regulation of protein sumoylation	IDA IDA: Inferred from direct assay	20694146	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	18073330	GOA
involved in positive regulation of NF-kappaB transcription factor activity	IMP IMP: Inferred from mutant phenotype	18073330	GOA
involved in protein catabolic process	IDA IDA: Inferred from direct assay	27657329	GOA
involved in protein catabolic process	IMP IMP: Inferred from mutant phenotype	23357851	GOA
involved in protein destabilization	IMP IMP: Inferred from mutant phenotype	23357851	GOA
involved in proteolysis	IDA IDA: Inferred from direct assay	9642272	GOA
involved in regulation of canonical NF-kappaB signal transduction	IMP IMP: Inferred from mutant phenotype	18073330	GOA
involved in regulation of catalytic activity	IDA IDA: Inferred from direct assay	20694146	GOA
involved in self proteolysis	IDA IDA: Inferred from direct assay	9642272	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in cytoplasm	IDA IDA: Inferred from direct assay	19386580	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	27657329	GOA
located in nucleus	IDA IDA: Inferred from direct assay	19386580	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CAPN3 Protein Structure

Peptidase_C2

Calpain_III

EF-hand_8

EF-hand_6

0
200
400
600
821 a.a.

Protein Preferred Names	Protein Names
calpain-3	calpain p94, large [catalytic] subunit

CAPN3 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	CAPN3	P20807	TTN	Homo sapiens	Q8WZ42	Y2H	20860623
Intra	CAPN3	P20807	TTN	Homo sapiens	Q8WZ42	Y2H Fragment Pooling	23414517
Intra	CAPN3	P20807	OSGIN1	Homo sapiens	Q9UJX0	Validated Y2H	25416956
Intra	CAPN3	P20807	OSGIN1	Homo sapiens	Q9UJX0	Y2H Array	31515488
Intra	CAPN3	P20807	OSGIN1	Homo sapiens	Q9UJX0	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Calpainopathy Lgmd2a Muscular Dystrophy, Limb-Girdle, Type 2a Lgmd2 Muscular Dystrophy, Pelvofemoral LGMDR1 Muscular Dystrophy, Limb-Girdle, Type 2 Leyden-Moebius Muscular Dystrophy Limb-Girdle Muscular Dystrophy Type 2a Muscular Dystrophy Limb Girdle Type 2a, Erb Type Limb-Girdle Muscular Dystrophy, Type 2e Limb-Girdle Muscular Dystrophy Type 2 Limb-Girdle Muscular Dystrophy Type 2e Beta-Sarcoglycan Limb-Girdle Muscular Dystrophy Lgmd2e Muscular Dystrophy Limb-Girdle With Beta-Sarcoglycan Deficiency Leyden-Moebious Muscular Dystrophy Limb-Girdle Muscular Dystrophy 2a Limb-Girdle Muscular Dystrophy, Type 2a Limb-Girdle Muscular Dystrophy, Type 2s Dystrophy, Muscular, Limb-Girdle, Type 2e Dystrophy, Muscular, Limb-Girdle, Type 2s Muscular Dystrophy, Limb-Girdle, Type 2s Beta-Sarcoglycanopathy
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	LGMDD4 Muscular Dystrophy, Limb-Girdle, Type 1i Lgmd1i Dystrophy, Muscular, Limb-Girdle, Autosomal Dominant, Type 4
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a	Leyden-Moebius Muscular Dystrophy Lgmd2a Limb-Girdle Muscular Dystrophy Due To Calpain Deficiency Muscular Dystrophy, Limb-Girdle, Type 2a Pelvofemoral Muscular Dystrophy Primary Calpainopathy
Limb-Girdle Muscular Dystrophy	Lgmd Limb Girdle Muscular Dystrophy Muscular Dystrophies, Limb-Girdle Erb'S Muscular Dystrophy Leyden-Mbius Muscular Dystrophy Limb-Girdle Syndrome Myopathic Limb-Girdle Syndrome Limb Girdle Muscular Dystrophy Limb-Girdle Dystrophy, Muscular, Limb-Girdle Lgmd - [Limb-Girdle Muscular Dystrophy] Limb Girdle Muscle Dystrophy Limb-Girdle Myopathy
Progressive Muscular Atrophy	Progressive Spinal Muscular Atrophy Pure Progressive Muscular Atrophy Pma Hereditary Spinal Muscle Atrophy Pma - [Progressive Muscular Atrophy] Progressive Muscle Atrophy Progressive Spinal Muscle Atrophy Duchenne-Aran Atrophy Duchenne-Aran Muscle Atrophy Hereditary Sma - [Spinal Muscle Atrophy]
Paresthesia
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a Calpain-3-Related Lgmd R1 Lgmd Type 2a Lgmd2a Limb-Girdle Muscular Dystrophy Due To Calpain Deficiency Limb-Girdle Muscular Dystrophy Type 2a Primary Calpainopathy
Calpain-3-Related Limb-Girdle Muscular Dystrophy D4	Lgmd Type D4 Lgmd1i Limb-Girdle Muscular Dystrophy Type D4
Myopathy	Muscular Diseases Myopathies
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Muscular Dystrophy, Congenital, Lmna-Related	Congenital Muscular Dystrophy Congenital Muscular Dystrophy Due To Lmna Mutation MDCL L-Cmd Lmna-Related Congenital Muscular Dystrophy Muscular Dystrophy, Congenital Congenital Muscular Dystrophy Lmna-Related Lmna-Related Cmd Cmd Mdc Muscular Dystrophy Congenital Lmna-Related Dystrophy, Muscular, Congenital, Lmna-Related Dystrophy, Muscular, Congenital Hereditary Muscular Dystrophy Congenital Hereditary Muscular Dystrophy Congenital Progressive Muscular Dystrophy Hereditary Progressive Muscular Dystrophy
Migraine With Or Without Aura 1	Migraine Migraine With Or Without Aura, Susceptibility To, 1 Migraine Disorder Migraine Variant Migraines Migraine Disorders Mgr1 Mgau Ma Migraine With Or Without Aura Classic Migraine Common Migraine Disorder, Migraine Headache Migraine Headache Migrainous Migraine Headache Migraine Syndrome Headache Including Migraine Migraine, Susceptibility To
Isolated Elevated Serum Creatine Phosphokinase Levels	Elevated Serum Cpk Idiopathic Hyperckemia Isolated Hyperckemia Elevated Serum Creatine Phosphokinase H-Ck Idiopathic Persistent Elevation Of Serum Creatine Kinase
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Creatine Phosphokinase, Elevated Serum	Hyperckemia, Idiopathic Cpk, Elevated Serum Hyperckmia HYPCK
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b	Lgmd2b Lgmd3 Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency Limb-Girdle Muscular Dystrophy Type 3 Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Lgmd2b Muscular Dystrophy, Limb-Girdle, Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Beta-Sarcoglycanopathy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y Muscular Dystrophy, Limb-Girdle, Type 3 Lgmd3 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s LGMDR2 Muscular Dystrophy, Limb-Girdle, Type 2s Limb-Girdle Muscular Dystrophy Type 2b Lgmd2e Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency Muscular Dystrophy, Limb-Girdle, Type 2e Lgmd2s Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency Lgmd2y Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine Muscular Dystrophy, Limb-Girdle, Type 2y Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Dysferlin-Related Lgmd R2 Lgmd Due To Dysferlin Deficiency Lgmd Type 2b Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency Limb-Girdle Muscular Dystrophy 2b Limb-Girdle Muscular Dystrophy, Type 2b Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2 Dystrophy, Muscular, Limb-Girdle, Type 2b Limb-Girdle Muscular Dystrophy, Type 2e
Autosomal Dominant Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant
Muscular Dystrophy-Dystroglycanopathy , Type C, 5	Lgmd2i Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i MDDGC5 Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency Limb-Girdle Muscular Dystrophy Type 2i Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9 Lgmdr9 Muscular Dystrophy, Limb-Girdle, Type 2i Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related Fkrp-Related Limb-Girdle Muscular Dystrophy R9 Fkrp-Related Lgmd R9 Lgmd Due To Fkrp Deficiency Lgmd Type 2i Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related Muscular Dystrophy Limb-Girdle Type 2i Muscular Dystrophy-Dystroglycanopathy Type C 5 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5 Dystrophy, Muscular, Limb-Girdle, Type 2i
Miyoshi Muscular Dystrophy	Distal Myopathy Distal Muscular Dystrophy Miyoshi Myopathy Distal Myopathies Dystrophy, Muscular, Miyoshi Myopathy, Distal Distal Muscular Dystrophies
Myositis	Idiopathic Inflammatory Myopathy Idiopathic Inflammatory Myositis Iim Imm Idiopathic Inflammatory Myopathies Myopathy, Familial Idiopathic Inflammatory Inflammatory Disorder Of Muscle Idiopathic Inflammatory Myopathy, Familial Inflammatory Myopathy, Idiopathic Myopathies Idiopathic Inflammatory Familial Idiopathic Inflammatory Myopathy
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Muscular Dystrophy, Limb-Girdle, Type 2g Lgmd2g LGMDR7 Limb-Girdle Muscular Dystrophy, Type 2g Telethonin-Related Limb-Girdle Muscular Dystrophy R7 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g Lgmd Due To Telethonin Deficiency Lgmd Type 2g Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency Limb-Girdle Muscular Dystrophy Type 2g Telethonin-Related Lgmd R7 Limb-Girdle Muscular Dystrophy 2g Dystrophy, Muscular, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Sarcotubular Myopathy Lgmd2h Muscular Dystrophy, Limb-Girdle, Type 2h Limb-Girdle Muscular Dystrophy Type 2h LGMDR8 Muscular Dystrophy Hutterite Type Muscular Dystrophy, Hutterite Type Muscular Dystrophy Limb-Girdle Type 2h Trim32-Related Limb-Girdle Muscular Dystrophy R8 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Lgmd Due To Trim32 Deficiency Lgmd Type 2h Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency Trim32-Related Lgmd R8 Limb-Girdle Muscular Dystrophy 2h Dystrophy, Muscular, Limb-Girdle, Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j	Lgmd2j Muscular Dystrophy, Limb-Girdle, Type 2j
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Lgmd2e Muscular Dystrophy, Limb-Girdle, Type 2e LGMDR4 Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Beta-Sarcoglycan-Related Lgmd R4 Beta-Sarcoglycanopathy Lgmd Due To Beta-Sarcoglycan Deficiency Lgmd Type 2e Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency Limb-Girdle Muscular Dystrophy Type 2e Limb-Girdle Muscular Dystrophy 2e
Tibial Muscular Dystrophy	Tmd Udd Myopathy Distal Titinopathy Finnish Tibial Muscular Dystrophy Tardive Tibial Muscular Dystrophy Udd Type Distal Myopathy Udd Distal Myopathy Udd-Markesbery Muscular Dystrophy Distal Myopathy, Udd Type Distal Myopathies Tibial Muscular Dystrophy, Tardive
Dysferlinopathy	Dystrophinopathy
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	Lgmd2f Muscular Dystrophy, Limb-Girdle, Type 2f Limb-Girdle Muscular Dystrophy Type 2f LGMDR6 Muscular Dystrophy Limb-Girdle With Delta-Sarcoglyan Deficiency Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Delta-Sarcoglycan-Related Lgmd R6 Delta-Sarcoglycanopathy Lgmd Due To Delta-Sarcoglycan Deficiency Lgmd Type 2f Limb-Girdle Muscular Dystrophy Due To Delta-Sarcoglycan Deficiency Limb-Girdle Muscular Dystrophy 2f Limb-Girdle Muscular Dystrophy, Type 2f Dystrophy, Muscular, Limb-Girdle, Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g	Lgmd2g Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency Muscular Dystrophy, Limb-Girdle, Type 2g
Limb-Girdle Muscular Dystrophy Type 1a	Lgmd1a Lgmd1 Muscular Dystrophy, Proximal, Type 1a Limb-Girdle Muscular Dystrophy, Type 1a Dystrophy, Muscular, Limb-Girdle, Type 1a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h	Lgmd2h Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency Muscular Dystrophy Hutterite Type Sarcotubular Myopathy Limb-Girdle Muscular Dystrophy Type 2h
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Hereditary Myopathy With Early Respiratory Failure Hmerf Myopathy, Proximal, With Early Respiratory Muscle Involvement Edstrom Myopathy Mfm-Titinopathy MFM9 Mprm Hereditary Inclusion Body Myopathy With Early Respiratory Failure Hibm-Erf Myofibrillar Myopathy-Titinopathy Myofibrillar Myopathy With Early Respiratory Failure Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant Myofibrillar Myopathy 9 Myofibrillar Myopathy 9 With Early Respiratory Failure Autosomal Dominant Distal Myopathy With Early Respiratory Failure Proximal Myopathy With Early Respiratory Muscle Involvement Hereditary Proximal Myopathy With Early Respiratory Failure Admerf Edström Myopathy Hmerf-Erf
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l	Lgmd2l Muscular Dystrophy, Limb-Girdle, Type 2l
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f	Delta-Sarcoglycanopathy Lgmd2f Limb-Girdle Muscular Dystrophy Due To Delta-Sarcoglycan Deficiency Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c	Autosomal Recessive Duchenne-Like Muscular Dystrophy Type 1 Deficiency Of Sarcoglycan Gamma Dmda1 Gamma-Sarcoglycanopathy Lgmd2c Limb-Girdle Muscular Dystrophy Due To Gamma-Sarcoglycan Deficiency Maghrebian Myopathy Muscular Dystrophy, Limb-Girdle, Type 2c Scarmd Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d	Alpha-Sarcoglycanopathy Dmda2 Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2 Lgmd2d Muscular Dystrophy, Limb-Girdle, Type 2d Primary Adhalinopathy
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Muscular Dystrophy, Limb-Girdle, Type 1f Lgmd1f Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f LGMDD2 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 2 Muscular Dystrophy Limb-Girdle Type 1f Tnp03-Related Limb-Girdle Muscular Dystrophy D2 Lgmd Type 1f Limb-Girdle Muscular Dystrophy Type 1f Limb-Girdle Muscular Dystrophy 1f Dystrophy, Muscular, Limb-Girdle, Type 1f
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Facioscapulohumeral Muscular Dystrophy 1	Facioscapulohumeral Muscular Dystrophy Fshd Landouzy-Dejerine Muscular Dystrophy Muscular Dystrophy, Facioscapulohumeral FSHD1 Fshd1a Muscular Dystrophy, Facioscapulohumeral, Type 1a Facioscapulohumeral Muscular Dystrophy Type 1a Fsh Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy 1a Facioscapulohumeral Atrophy Facioscapulohumeral Myopathy Muscular Dystrophy, Facioscapulohumeral, Type 1 Facioscapulohumeral Muscular Dystrophy Type 1 Landouzy Dejerine Muscular Dystrophy Muscular Dystrophy, Landouzy-Dejerine Fshmd1a Facio-Scapulo-Humeral Dystrophy Facioscapulohumeral Type Progressive Muscular Dystrophy Facioscapuloperoneal Muscular Dystrophy Facioscapulohumeral Dystrophy Fsh Dystrophy Landouzy-Dejerine Dystrophy Landouzy-Dejerine Myopathy Fmd Facioscapulohumeral Muscular Dystrophy-1a Muscular Dystrophy Facioscapulohumeral Dystrophy, Muscular, Facioscapulohumeral Dystrophy, Muscular, Facioscapulohumeral, Type 1 Landouzy-Dejerine Disease Landouzy-Déjerine Atrophy Facioscapulohumeral Muscle Dystrophy Fmd - [Facioscapulohumeral Muscular Dystrophy] Fsh - [Facioscapulohumeral Muscular Dystrophy] Fshd - [Facioscapulohumeral Muscular Dystrophy] Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy Landouzy-Déjérine Muscular Dystrophy
Muscular Dystrophy-Dystroglycanopathy , Type C, 2	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n Lgmd2n MDDGC2 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 14 Lgmdr14 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related Limb-Girdle Muscular Dystrophy Type 2n Muscular Dystrophy, Limb-Girdle, Type 2n Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related Muscular Dystrophy-Dystroglycanopathy Type C 2 Pomt2-Related Limb-Girdle Muscular Dystrophy R14 Lgmd Type 2n Pomt2-Related Lgmd R14 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2 Mdgd2c Dystrophy, Muscular, Limb-Girdle, Type 2n
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Muscular Dystrophy, Limb-Girdle, Type 1e Lgmd1d Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d LGMDD1 Lgmd1e Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1 Limb-Girdle Muscular Dystrophy Type 1d Muscular Dystrophy, Limb-Girdle, Type 1d Muscular Dystrophy, Limb-Girdle, Type 1d, Formerly Lgmd1d, Formerly Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e Muscular Dystrophy Limb-Girdle Type 1d Muscular Dystrophy Limb-Girdle Type 1e Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 Dnajb6-Related Lgmd D1 Lgmd Type 1d Limb-Girdle Muscular Dystrophy 1e Limb-Girdle Muscular Dystrophy-1d, Autosomal Dominant Dystrophy, Muscular, Limb-Girdle, Autosomal Dominant, Type 1 Dystrophy, Muscular, Limb-Girdle, Type 1e
Muscular Dystrophy-Dystroglycanopathy , Type C, 4	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m Lgmd2m MDDGC4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 13 Lgmdr13 Muscular Dystrophy, Limb-Girdle, Type 2m Muscular Dystrophy-Dystroglycanopathy Type C 4 Fukutin-Related Limb-Girdle Muscular Dystrophy R13 Autosomal Recessive Lgmd Type 2m Fukutin-Related Lgmd R13 Lgmd Type 2m Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C4 Limb-Girdle Muscular Dystrophy Type 2m Mdgd4c Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 4c Dystrophy, Muscular, Limb-Girdle, Type 2m
Miyoshi Muscular Dystrophy 3	MMD3 Miyoshi Myopathy 3 Distal Anoctaminopathy Miyoshi Muscular Dystrophy Type 3 Dystrophy, Muscular, Miyoshi, Type 3
Bethlem Myopathy 1	Bethlem Myopathy Myopathy, Benign Congenital, With Contractures Muscular Dystrophy, Benign Congenital BTHLM1 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5 Lgmdd5 Benign Congenital Muscular Dystrophy Benign Autosomal Dominant Myopathy Myopathy, Bethlem Myopathy, Bethlem, Type 1
Myopathy, Distal, 4	Distal Myopathy With Posterior Leg And Anterior Hand Involvement MPD4 Williams Distal Myopathy Distal Muscular Dystrophy 4 Distal Abd-Filaminopathy Distal Myopathy 4 Myopathy, Distal, Type 4
Muscular Dystrophy, Becker Type	Becker Muscular Dystrophy BMD Benign Pseudohypertrophic Muscular Dystrophy Benign Congenital Myopathy Becker Dystrophinopathy Becker'S Muscular Dystrophy Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type Muscular Dystrophy Becker Dystrophy, Muscular, Becker Type Dystrophinopathy Becker Dystrophy Becker Type Dystrophy Bmd - [Becker Muscular Dystrophy]
Myopathy, Myofibrillar, 3	Myotilinopathy Myofibrillar Myopathy 3 MFM3 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Lgmd1a Muscular Dystrophy, Limb-Girdle, Type 1a Myopathy, Myofibrillar, Myotilin-Related Muscular Dystrophy, Limb-Girdle, Type 1, Formerly Lgmd1, Formerly Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly Lgmd1a, Formerly Qualitative Or Quantitative Defects Of Myotilin Limb-Girdle Muscular Dystrophy Due To Myotilin Deficiency Distal Myotilinopathy Lgmd1 Limb-Girdle Muscular Dystrophy 1a Mfm Myotilin-Related Muscular Dystrophy, Limb-Girdle, Type 1 Myopathy Myofibrillar Myotylin-Related Myopathy, Myofibrillar, Type 3
Muscle Tissue Disease
Rigid Spine Muscular Dystrophy 1	Rigid Spine Syndrome RSMD1 Rss Mdrs1 Eichsfeld Type Congenital Muscular Dystrophy Desmin-Related Myopathy With Mallory Bodies Classic Multiminicore Myopathy Sepn1-Related Myopathy Multicore Myopathy, Severe Classic Form Minicore Myopathy, Severe Classic Form Multiminicore Disease, Severe Classic Form Muscular Dystrophy, Rigid Spine, 1 Classic Mmd Classic Multiminicore Disease Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity Desmin-Related Myopathy With Mallory Body-Like Inclusions Early-Onset Desmin-Related Myopathy Myopathy, Sepn1-Related Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity Muscular Dystrophy, Congenital, Eichsfeld Type Severe Classic Form Minicore Myopathy Severe Classic Form Multicore Myopathy Severe Classic Form Multiminicore Disease Desmin-Related Myopathies With Mallory Bodies Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity Rigid Spine Muscular Dystrophy-1 Rigid Spine Congenital Muscular Dystrophy Congenital Muscular Dystrophy Eichsfeld Type Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity Minicore Myopathy Severe Classic Form Multicore Myopathy Severe Classic Form Multiminicore Disease Severe Classic Form Dystrophy, Muscular, Rigid Spine, Type 1
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	EDMD2 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy Emd2 Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant Scapuloilioperoneal Atrophy With Cardiopathy Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant Hauptmann-Thannhauser Muscular Dystrophy Cardiomyopathy, Dilated, With Quadriceps Myopathy Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2 Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly Lgmd1b, Formerly Muscular Dystrophy, Proximal, Type 1b, Formerly Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b Lgmd1b Limb-Girdle Muscular Dystrophy 1b Muscular Dystrophy, Proximal, Type 1b Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant
Glycogen Storage Disease Ii	Pompe Disease Glycogen Storage Disease Type Ii Acid Maltase Deficiency Gsd Ii Gaa Deficiency Alpha-1,4-Glucosidase Deficiency Glycogenosis Type Ii GSD2 Acid Alpha-Glucosidase Deficiency Amd Glycogen Storage Disease, Type Ii Pompe'S Disease Glycogen Storage Disease Type 2 Cardiomegalia Glycogenica Diffusa Acid Maltase Deficiency Disease Deficiency Of Alpha-Glucosidase Glycogenosis, Generalized, Cardiac Form Deficiency Of Glucoamylase Deficiency Of Maltase Generalized Glycogenosis Glycogenosis, Type 2 Lysosomal Alpha-1,4-Glucosidase Deficiency Glucosidase Acid-1,4-Alpha Deficiency Aglucosidase Alfa Deficiency Of Lysosomal Alpha-Glucosidase Glycogen Storage Disease Due To Acid Maltase Deficiency Alpha-1,4-Glucosidase Acid Deficiency Gsd Due To Acid Maltase Deficiency Gsd Type 2 Gsd Type Ii Glycogenosis Due To Acid Maltase Deficiency Glycogenosis Type 2 Glycogen Storage Disease 2 Cardiomegalia Glycogenica Glycogenosis Generalized Cardiac Form Glycogenosis Ii Gsd-Ii Storage Disease, Glycogen, Type Ii Generalized Glycogen Storage Disease Of Infants Cardiac Form Of Generalized Glycogenosis
Myopathy, Myofibrillar, 5	Myofibrillar Myopathy 5 MFM5 Myopathy, Myofibrillar, Filamin C-Related Filaminopathy, Autosomal Dominant Filaminopathy Muscle Filaminopathy Autosomal Dominant Filaminopathy Mfm Filamin C-Related Myopathy Myofibrillar Filamin C-Related Myopathy, Myofibrillar, Type 5
Cardiomyopathy, Dilated, 1g	Dilated Cardiomyopathy 1g CMD1G Cardiomyopathy, Dilated 1g Cardiomyopathy, Dilated, Type 1g
Myofibrillar Myopathy	Desmin Related Myopathy Myotilinopathy Myopathy, Myofibrillar Alpha Beta Crystallinopathy Desmin Storage Myopathy Desminopathy Filaminopathy Protein Surplus Myopathy Zaspopathy Myofibrillar Myopathies Myopathy, Myofibrillar, Desmin-Related Myopathy, Desmin Storage Mfm - [Myofibrillar Myopathy]
Myopathy, Myofibrillar, 1	Desmin-Related Myofibrillar Myopathy Desmin-Related Myopathy MFM1 Myopathy, Myofibrillar, Desmin-Related Drm Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy Desmin-Related Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy Myofibrillar Myopathy 1 Desminopathy Muscular Dystrophy, Limb-Girdle, Type 2r Arrhythmogenic Right Ventricular Dysplasia, Familial, 7 Desminopathy, Primary Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly Arvd7, Formerly Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly Arvc7, Formerly Inclusion Body Myopathy 1, Autosomal Dominant, Formerly Ibm1, Formerly Cardiomyopathy, Dilated, 1f And Limb-Girdle Muscular Dystrophy Type 1d, Formerly Cmd1f And Lgmd1d, Formerly Cardiomyopathy, Dilated, With Conduction Defect And Muscular Dystrophy Cdcd3, Formerly Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly Lgmd2r, Formerly Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r Arrhythmogenic Right Ventricular Cardiomyopathy 7 Arvc7 Arvd7 Autosomal Dominant Inclusion Body Myopathy 1 Cdcd3 Cmd1f And Lgmd1d Desminopathy Primary Dilated Cardiomyopathy 1f And Limb-Girdle Muscular Dystrophy Type 1d Dilated Cardiomyopathy With Conduction Defect And Muscular Dystrophy Familial Arrhythmogenic Right Ventricular Dysplasia 7 Lgmd2r Limb-Girdle Muscular Dystrophy 2r Mfm Desmin-Related Myopathy Myofibrillar Desmin-Related Dystrophy, Muscular, Limb-Girdle, Type 2r
Muscular Dystrophy, Congenital Merosin-Deficient, 1a	MDC1A Lama2-Related Muscular Dystrophy Atrophie Blanche Muscular Dystrophy, Congenital Merosin-Deficient Congenital Merosin-Deficient Muscular Dystrophy 1a Merosin-Negative Congenital Muscular Dystrophy Muscular Dystrophy White Matter Spongiosis Merosin Deficient Congenital Muscular Dystrophy Muscular Dystrophy Congenital, Merosin Negative Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient Cmd1a Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency Congenital Muscular Dystrophy Type 1a Laminin Alpha-2 Deficiency Merosin-Deficient Congenital Muscular Dystrophy Muscular Dystrophy, Congenital, Merosin-Deficient Lama2 Md Laminin Alpha 2 Deficiency Laminin Alpha-2 Deficient Muscular Dystrophy Merosin-Deficient Muscular Dystrophy Muscular Dystrophy Due To Lama2 Deficiency Merosin-Deficient Congenital Muscular Dystrophy 1a Cardiomyopathy, Familial Idiopathic
Emery-Dreifuss Muscular Dystrophy	Edmd Emery-Dreifuss Syndrome Muscular Dystrophy, Emery-Dreifuss Humeroperoneal Neuromuscular Disease Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures Scapuloperoneal Syndrome, X-Linked Benign Scapuloperoneal Muscular Dystrophy With Early Contractures Muscular Dystrophy, Emery-Dreifuss Type Muscular Dystrophy Emery-Dreifuss Dystrophy, Muscular, Emery-Dreifuss Emd - [Emery-Dreifuss Muscular Dystrophy]
Nonaka Myopathy	Gne Myopathy Hibm Distal Myopathy With Rimmed Vacuoles Hereditary Inclusion Body Myopathy Ibm2 Inclusion Body Myopathy, Quadriceps-Sparing Qsm Dmrv Distal Myopathy, Nonaka Type Inclusion Body Myopathy 2 Inclusion Body Myopathy, Autosomal Recessive NM Nonaka Distal Myopathy Myopathy, Distal, With Or Without Rimmed Vacuoles Inclusion Body Myopathy, Hereditary, Autosomal Recessive Inclusion Body Myopathy Type 2 Quadriceps-Sparing Myopathy Quadriceps Sparing Myopathy Rimmed Vacuole Myopathy Inclusion Body Myopathy 2, Autosomal Recessive, Formerly Ibm2, Formerly Hibm2 Hereditary Inclusion Body Myopathy Type 2 Inclusion Body Myopathy 2, Autosomal Recessive Myopathy, Distal, With Rimmed Vacuoles Inclusion Body Myopathy Autosomal Recessive Myopathy, Inclusion Body, Type 2 Myopathy, Nonaka
Muscular Disease
Myopathy, Myofibrillar, 4	Myofibrillar Myopathy 4 MFM4 Zaspopathy Myopathy, Myofibrillar, Zasp-Related
Ullrich Congenital Muscular Dystrophy 1	Ullrich Congenital Muscular Dystrophy Ullrich Disease Ucmd Ullrich Scleroatonic Muscular Dystrophy Scleroatonic Muscular Dystrophy UCMD1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22 Lgmdr22 Muscular Dystrophy, Scleroatonic Late Onset Scleroatonic Familial Myopathy Congenital Muscular Dystrophy, Ullrich Type
Type 1 Diabetes Mellitus 2	Diabetes Mellitus, Noninsulin-Dependent, 1 Diabetes Mellitus, Insulin-Dependent, 2 IDDM2 Insulin-Dependent Diabetes Mellitus 2 NIDDM1 Diabetes Mellitus, Noninsulin-Dependent 1 T1D2 Type 2 Diabetes Mellitus 1 T2D1 Noninsulin-Dependent Diabetes Mellitus 1 Diabetes Mellitus, Non-Insulin-Dependent, 1 Type 2 Diabetes Mellitus 1, Susceptibility To Diabetes Mellitus, Insulin-Dependent, Type 2 Diabetes Mellitus, Non-Insulin-Dependent
Myopathy With Extrapyramidal Signs	Proximal Myopathy With Extrapyramidal Signs MPXPS Myopathy, With Extrapyramidal Signs
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Walker-Warburg Syndrome	Hard Syndrome Walker-Warburg Congenital Muscular Dystrophy Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cod-Md Syndrome Chemke Syndrome Hydrocephalus, Agyria And Retinal Dysplasia Cerebroocular Dysgenesis Cerebroocular Dysplasia Muscular Dystrophy Syndrome Hard +/- E Syndrome Pagon Syndrome Warburg Syndrome Hydrocephalus, Agyria, And Retinal Dysplasia Mddga Muscular Dystrophy-Dystroglycanopathy , Type A Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A Hydrocephalus-Agyria-Retinal Dysplasia Syndrome Wws Dystrophy, Muscular, Dystroglycanopathy, Type A
Spinal Muscular Atrophy, Type Ii	SMA2 Sma Ii Muscular Atrophy, Spinal, Intermediate Type Muscular Atrophy, Spinal, Infantile Chronic Form Intermediate Spinal Muscular Atrophy Spinal Muscular Atrophy Type Ii Spinal Muscular Atrophy-2 Spinal Muscular Atrophy 2 Spinal Muscular Atrophy Type 2 Dubowitz Disease Proximal Spinal Muscular Atrophy Type 2 Sma Type 2 Sma Type Ii Sma-Ii Spinal Muscular Atrophy Infantile Chronic Form Spinal Muscular Atrophy Intermediate Type Spinal Muscular Atrophies Of Childhood Atrophy, Muscular, Spinal, Type Ii Muscular Atrophy, Spinal, Type Ii
Centronuclear Myopathy	Myopathy, Centronuclear Myotubular Myopathy Cnm Myopathy, Myotubular Congenital Structural Myopathy
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Neuronal Ceroid Lipofuscinosis	Hereditary Ceroid Lipofuscinosis Batten Disease Ncl Neuronal Ceroid-Lipofuscinoses Lipofuscinosis, Ceroid, Neuronal Juvenile Neuronal Ceroid Lipofuscinosis Cerebromacular Dystrophy Cerebromacular Degeneration Ceroid-Lipofuscinosis Ncl - [Neuronal Ceroid Lipofuscinosis] Amaurotic Familial Idiocy Amaurotic Idiocy Amaurotic Idiot Neuronal Lipofuscinosis Pigmentary Retinal Lipoid Neuronal Heredodegeneration
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS01890	CAPN3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Felis catus	CAPN3	VGNC	VGNC:81025
Mus musculus	CAPN3	MGD	MGI:107437
Canis familiaris	CAPN3	VGNC	VGNC:38704
Macaca mulatta	CAPN3	VGNC	VGNC:70533
Rattus norvegicus	CAPN3	RGD	RGD:2269
Bos taurus	CAPN3	VGNC	VGNC:26747
Others	CAPN3	NCBI