CAPN3 (calpain 3)

2008-10-01 Affiliation

Identity

HGNC

CAPN3

LOCATION

15q15.1

LOCUSID

825

ALIAS

CANP3,CANPL3,LGMD2,LGMD2A,LGMDD4,LGMDR1,nCL-1,p94

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000092529	ENST00000318023	F8W8F5
ENSG00000092529	ENST00000337571	P20807
ENSG00000092529	ENST00000349748	P20807
ENSG00000092529	ENST00000356316	P20807
ENSG00000092529	ENST00000357568	P20807
ENSG00000092529	ENST00000397163	P20807
ENSG00000092529	ENST00000397200	P20807
ENSG00000092529	ENST00000397200	A0A0S2Z3E1
ENSG00000092529	ENST00000397204	P20807
ENSG00000092529	ENST00000561817	H3BS77
ENSG00000092529	ENST00000564503	H3BV08
ENSG00000092529	ENST00000565274	H3BUR3
ENSG00000092529	ENST00000565559	H3BUZ3
ENSG00000092529	ENST00000567071	H3BSA2
ENSG00000092529	ENST00000567817	H3BS30
ENSG00000092529	ENST00000568153	H3BNN7
ENSG00000092529	ENST00000569136	P20807
ENSG00000092529	ENST00000569827	H3BMH1
ENSG00000092529	ENST00000673646	A0A0S2Z3E6

Expression (GTEx)

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

Pathway	Source	External ID
Extracellular matrix organization	REACTOME	R-HSA-1474244
Degradation of the extracellular matrix	REACTOME	R-HSA-1474228

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
18974005	2008	Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance.	41
18676612	2008	Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle.	34
18310072	2008	Multiple molecular interactions implicate the connectin/titin N2A region as a modulating scaffold for p94/calpain 3 activity in skeletal muscle.	33
18334579	2008	Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle.	31
15689361	2005	LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.	25
19074885	2008	Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia.	25
16627476	2006	Suppressed disassembly of autolyzing p94/CAPN3 by N2A connectin/titin in a genetic reporter system.	24
16934440	2007	Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A).	23
18073330	2008	NF-kappaB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A.	23
15221789	2004	Molecular diagnosis in LGMD2A: mutation analysis or protein testing?	22

Citation

Dessen P

CAPN3 (calpain 3)

Atlas Genet Cytogenet Oncol Haematol. 2008-10-01

Online version: http://atlasgeneticsoncology.org/gene/50412/capn3