GenTIGS

Calpain 3 (CAPN3) Associated conditions: 1. Autosomal recessive limb-girdle muscular dystrophy type 2A 2. Limb-girdle muscular dystrophy

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000070.3	NP_000061.1	NC_000015.10	(42359500..42412316)	Reference GRCh38.p14 Primary Assembly	P20807
2	REVIEWED	NM_024344.2	NP_077320.1	NC_000015.10	(42359500..42412316)	Reference GRCh38.p14 Primary Assembly	P20807
3	REVIEWED	NM_173087.2	NP_775110.1	NC_000015.10	(42359500..42412316)	Reference GRCh38.p14 Primary Assembly	P20807
4	REVIEWED	NM_173088.2	NP_775111.1	NC_000015.10	(42359500..42412316)	Reference GRCh38.p14 Primary Assembly	P20807
5	REVIEWED	NM_173089.2	NP_775112.1	NC_000015.10	(42359500..42412316)	Reference GRCh38.p14 Primary Assembly	P20807
6	REVIEWED	NM_173090.2	NP_775113.1	NC_000015.10	(42359500..42412316)	Reference GRCh38.p14 Primary Assembly	P20807

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1150 reference articles

Variant Information Calpain 3 (CAPN3) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Calpain 3 (CAPN3)

ClinVar variants:Revealing mutagenic patterns

GO Term of Calpain 3 (CAPN3)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	enables	catalytic activity	Function	9642272
2	Homo sapiens	IBA	enables	calcium-dependent cysteine-type endopeptidase activity	Function	21873635
3	Homo sapiens	ISS	enables	calcium-dependent cysteine-type endopeptidase activity	Function	-
4	Homo sapiens	TAS	enables	calcium-dependent cysteine-type endopeptidase activity	Function	9642272
5	Homo sapiens	ISS	enables	calcium ion binding	Function	-
6	Homo sapiens	IPI	enables	protein binding	Function	20860623 23357851 23414517 23707407 25416956 27657329 31515488
7	Homo sapiens	IDA	located_in	nucleus	Component	19386580
8	Homo sapiens	IDA	located_in	nucleolus	Component	27657329
9	Homo sapiens	IBA	is_active_in	cytoplasm	Component	21873635
10	Homo sapiens	IDA	located_in	cytoplasm	Component	19386580 19556129
11	Homo sapiens	ISS	located_in	cytosol	Component	-
12	Homo sapiens	ISS	located_in	plasma membrane	Component	-
13	Homo sapiens	IBA	involved_in	proteolysis	Process	21873635
14	Homo sapiens	IDA	involved_in	proteolysis	Process	9642272 18310072 19386580 20694146
15	Homo sapiens	TAS	involved_in	apoptotic process	Process	19386580
16	Homo sapiens	TAS	involved_in	muscle organ development	Process	9642272
17	Homo sapiens	IDA	enables	peptidase activity	Function	9642272 23707407
18	Homo sapiens	TAS	enables	cysteine-type peptidase activity	Function	2555341
19	Homo sapiens	ISS	enables	structural constituent of muscle	Function	-
20	Homo sapiens	ISS	involved_in	positive regulation of satellite cell activation involved in skeletal muscle regeneration	Process	-
21	Homo sapiens	ISS	involved_in	response to muscle activity	Process	-
22	Homo sapiens	ISS	located_in	myofibril	Component	-
23	Homo sapiens	ISS	located_in	Z disc	Component	-
24	Homo sapiens	IDA	involved_in	protein catabolic process	Process	27657329
25	Homo sapiens	IMP	involved_in	protein catabolic process	Process	23357851
26	Homo sapiens	ISS	involved_in	myofibril assembly	Process	-
27	Homo sapiens	TAS	involved_in	myofibril assembly	Process	9642272
28	Homo sapiens	ISS	located_in	T-tubule	Component	-
29	Homo sapiens	ISS	enables	sodium ion binding	Function	-
30	Homo sapiens	IPI	enables	titin binding	Function	9642272 18310072
31	Homo sapiens	IMP	involved_in	protein destabilization	Process	23357851
32	Homo sapiens	ISS	part_of	protein-containing complex	Component	-
33	Homo sapiens	IDA	involved_in	negative regulation of protein sumoylation	Process	20694146
34	Homo sapiens	IBA	involved_in	negative regulation of apoptotic process	Process	21873635
35	Homo sapiens	IMP	involved_in	negative regulation of apoptotic process	Process	18073330
36	Homo sapiens	IMP	involved_in	regulation of canonical NF-kappaB signal transduction	Process	18073330
37	Homo sapiens	ISS	involved_in	sarcomere organization	Process	-
38	Homo sapiens	IEA	involved_in	regulation of myoblast differentiation	Process	-
39	Homo sapiens	ISS	involved_in	positive regulation of proteolysis	Process	-
40	Homo sapiens	ISS	involved_in	negative regulation of DNA-templated transcription	Process	-
41	Homo sapiens	IMP	involved_in	positive regulation of DNA-templated transcription	Process	18073330
42	Homo sapiens	TAS	involved_in	muscle cell cellular homeostasis	Process	19386580
43	Homo sapiens	IDA	involved_in	regulation of catalytic activity	Process	20694146
44	Homo sapiens	IMP	involved_in	positive regulation of NF-kappaB transcription factor activity	Process	18073330
45	Homo sapiens	ISS	involved_in	positive regulation of release of sequestered calcium ion into cytosol	Process	-
46	Homo sapiens	ISS	involved_in	response to calcium ion	Process	-
47	Homo sapiens	IDA	enables	ligase regulator activity	Function	20694146
48	Homo sapiens	ISS	enables	molecular adaptor activity	Function	-
49	Homo sapiens	ISS	involved_in	muscle structure development	Process	-
50	Homo sapiens	ISS	involved_in	protein-containing complex assembly	Process	-
51	Homo sapiens	IEA	involved_in	G1 to G0 transition involved in cell differentiation	Process	-
52	Homo sapiens	ISS	involved_in	cellular response to calcium ion	Process	-
53	Homo sapiens	ISS	involved_in	cellular response to salt stress	Process	-
54	Homo sapiens	ISS	involved_in	protein localization to membrane	Process	-
55	Homo sapiens	IDA	involved_in	self proteolysis	Process	9642272
56	Homo sapiens	IDA	involved_in	calcium-dependent self proteolysis	Process	12482600