CAPN3 - calpain 3 Gene

中文名称：钙蛋白酶 3

种属: Homo sapiens

同用名: p94; CANP3; LGMD2; nCL-1; CANPL3; LGMD2A; LGMDD4; LGMDR1

基因 ID: 825 | 基因类型: protein coding

关于 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.

功能概要

钙蛋白酶是由一个大亚基和一个小亚基组成的异二聚体，是一种主要的细胞内蛋白酶，但其功能尚未完全确定。该基因编码与肌联蛋白特异性结合的钙蛋白酶大亚基家族的肌肉特异性成员。该基因的突变与 2A 型肢带型肌营养不良症有关。替代启动子和替代剪接导致编码不同亚型的多个转录变体，并且一些变体普遍表达。[RefSeq 提供，2008 年 7 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables catalytic activity	IDA IDA: 通过直接分析推断	9642272	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA
enables ligase regulator activity	IDA IDA: 通过直接分析推断	20694146	GOA
enables peptidase activity	IDA IDA: 通过直接分析推断	9642272	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	20860623	GOA
enables titin binding	IPI IPI: 通过物理相互作用推断	9642272	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in calcium-dependent self proteolysis	IDA IDA: 通过直接分析推断	12482600	GOA
involved in negative regulation of apoptotic process	IMP IMP: 通过突变表型推断	18073330	GOA
involved in negative regulation of protein sumoylation	IDA IDA: 通过直接分析推断	20694146	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: 通过突变表型推断	18073330	GOA
involved in positive regulation of NF-kappaB transcription factor activity	IMP IMP: 通过突变表型推断	18073330	GOA
involved in protein catabolic process	IDA IDA: 通过直接分析推断	27657329	GOA
involved in protein catabolic process	IMP IMP: 通过突变表型推断	23357851	GOA
involved in protein destabilization	IMP IMP: 通过突变表型推断	23357851	GOA
involved in proteolysis	IDA IDA: 通过直接分析推断	9642272	GOA
involved in regulation of canonical NF-kappaB signal transduction	IMP IMP: 通过突变表型推断	18073330	GOA
involved in regulation of catalytic activity	IDA IDA: 通过直接分析推断	20694146	GOA
involved in self proteolysis	IDA IDA: 通过直接分析推断	9642272	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	19386580	GOA
located in nucleolus	IDA IDA: 通过直接分析推断	27657329	GOA
located in nucleus	IDA IDA: 通过直接分析推断	19386580	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CAPN3 蛋白结构

Peptidase_C2

Calpain_III

EF-hand_8

EF-hand_6

0
200
400
600
821 a.a.

蛋白主名

其他名称

calpain-3

calpain p94, large [catalytic] subunit

CAPN3 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	CAPN3	P20807	TTN	Homo sapiens	Q8WZ42	Y2H	20860623
种属内	CAPN3	P20807	TTN	Homo sapiens	Q8WZ42	Y2H Fragment Pooling	23414517
种属内	CAPN3	P20807	OSGIN1	Homo sapiens	Q9UJX0	Validated Y2H	25416956
种属内	CAPN3	P20807	OSGIN1	Homo sapiens	Q9UJX0	Y2H Array	31515488
种属内	CAPN3	P20807	OSGIN1	Homo sapiens	Q9UJX0	Y2H Array	25416956

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

直系同源

种属	基因名	来源	基因 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

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