CAPN3 (calpain 3)

2008-10-01  

Identity

HGNC
CAPN3
LOCATION
15q15.1
LOCUSID
825
ALIAS
CANP3,CANPL3,LGMD2,LGMD2A,LGMDD4,LGMDR1,nCL-1,p94
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 825
MIM: 114240
HGNC: 1480
Ensembl: ENSG00000092529

Variants:

dbSNP: 825
ClinVar: 825
TCGA: ENSG00000092529
COSMIC: CAPN3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000092529ENST00000318023F8W8F5
ENSG00000092529ENST00000337571P20807
ENSG00000092529ENST00000349748P20807
ENSG00000092529ENST00000356316P20807
ENSG00000092529ENST00000357568P20807
ENSG00000092529ENST00000397163P20807
ENSG00000092529ENST00000397200P20807
ENSG00000092529ENST00000397200A0A0S2Z3E1
ENSG00000092529ENST00000397204P20807
ENSG00000092529ENST00000561817H3BS77
ENSG00000092529ENST00000564503H3BV08
ENSG00000092529ENST00000565274H3BUR3
ENSG00000092529ENST00000565559H3BUZ3
ENSG00000092529ENST00000567071H3BSA2
ENSG00000092529ENST00000567817H3BS30
ENSG00000092529ENST00000568153H3BNN7
ENSG00000092529ENST00000569136P20807
ENSG00000092529ENST00000569827H3BMH1
ENSG00000092529ENST00000673646A0A0S2Z3E6

Expression (GTEx)

0
50
100
150
200
250
300
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
Degradation of the extracellular matrixREACTOMER-HSA-1474228

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382994382024The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy.0
385618282024Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1.0
382994382024The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy.0
385618282024Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1.0
372983572023Calpain-3 Is Not a Sodium Dependent Protease and Simply Requires Calcium for Activation.0
375898572023Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene.0
372983572023Calpain-3 Is Not a Sodium Dependent Protease and Simply Requires Calcium for Activation.0
375898572023Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene.0
346978792022A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.0
357311902022CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.4
358784252022An 86 amino acids motif in CAPN3 is essential for formation of the nucleolus-localized Def-CAPN3 complex.1
346978792022A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.0
357311902022CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.4
358784252022An 86 amino acids motif in CAPN3 is essential for formation of the nucleolus-localized Def-CAPN3 complex.1
328969232021Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.10

Citation

Dessen P

CAPN3 (calpain 3)

Atlas Genet Cytogenet Oncol Haematol. 2008-10-01

Online version: http://atlasgeneticsoncology.org/gene/50412