CAPN3

GENERAL INFORMATION

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Gene name

CAPN3

Gene description

Calpain 3, (p94)

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

14
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (skeletal muscle)
GTEx:Tissue enriched (skeletal muscle)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in several tissues, most abundant in muscle cells.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA040052 , CAB033438
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (skeletal muscle)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enriched (skeletal muscle)

Organ

Expression



GENE INFORMATION

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Gene name

CAPN3 (HGNC Symbol)

Synonyms

CANP3, LGMD2, LGMD2A, nCL-1, p94

Description

Calpain 3, (p94) (HGNC Symbol)

Entrez gene 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]

Chromosome

15

Cytoband

q15.1

Chromosome location (bp)

42359500 - 42412318

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000092529 (version 78.38)

Entrez gene

825

UniProt

P20807 (UniProt - Evidence at protein level)

neXtProt

NX_P20807

Antibodypedia

CAPN3 antibodies


PROTEIN BROWSER

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ENST00000318023
 
ENST00000337571
 
ENST00000349748
 
ENST00000356316
 
ENST00000357568
 
ENST00000397163
 
ENST00000397200
 
ENST00000397204
 
ENST00000561817
 
ENST00000564503
 
ENST00000565559
 
ENST00000567071
 
ENST00000569136
 
ENST00000569827
 
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PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CAPN3-005 ENSP00000183936
ENST00000349748
P20807
Show all »
Show » Show » 729 84.1 No 0
CAPN3-006 ENSP00000336840
ENST00000337571
P20807
Show all »
Show » Show » 156 18.2 No 0
CAPN3-007 ENSP00000380384
ENST00000397200
P20807
Show all »
Show » Show » 309 35.9 No 0
CAPN3-008 ENSP00000350181
ENST00000357568
P20807
Show all »
Show » Show » 815 93.5 No 0
CAPN3-009 ENSP00000380349
ENST00000397163
P20807
Show all »
Show » Show » 821 94.3 No 0
CAPN3-010 ENSP00000454379
ENST00000569827
H3BMH1
Show all »
Show » Show » 256 29.9 No 0
CAPN3-011 ENSP00000456607
ENST00000567071
Show » 188 21.5 No 0
CAPN3-012 ENSP00000380387
ENST00000397204
P20807
Show all »
Show » Show » 156 18.2 No 0
CAPN3-013 ENSP00000456575
ENST00000561817
H3BS77
Show all »
Show » Show » 191 22 No 0
CAPN3-015 ENSP00000455254
ENST00000569136
P20807
Show all »
Show » Show » 156 18.2 No 0
CAPN3-017 ENSP00000457878
ENST00000565559
H3BUZ3
Show all »
Show » Show » 157 17.6 No 0
CAPN3-019 ENSP00000457898
ENST00000564503
Show » Show » 169 19.5 No 0
CAPN3-201 ENSP00000326281
ENST00000318023
H3BS30
Show all »
Show » Show » 773 89 No 0
CAPN3-202 ENSP00000348667
ENST00000356316
P20807
Show all »
Show » Show » 156 18.2 No 0