CAPN2 Gene (Protein Coding)

Calpain 2

GC01P223701
GIFtS:
48
The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiq... See more...

Aliases for CAPN2 Gene

Aliases for CAPN2 Gene

  • Calpain 2 2 3 5
  • CANPL2 2 3 4
  • Calcium-Activated Neutral Proteinase 2 3 4
  • Calpain 2, (M/II) Large Subunit 2 3
  • Calpain-2 Catalytic Subunit 3 4
  • Millimolar-Calpain 3 4
  • Calpain M-Type 3 4
  • EC 3.4.22.53 4 51
  • M-Calpain 3 4
  • CANPml 2 3
  • CANP 2 3 4
  • MCANP 2 3
  • Calpain 2, Large [Catalytic] Subunit 3
  • Calpain, Large Polypeptide L2 3
  • Calpain Large Polypeptide L2 4
  • Calpain 2, Large Subunit 3
  • Calpain-2 Large Subunit 4
  • EC 3.4.22 51
  • CANP2 3
  • CAPN2 5

External Ids for CAPN2 Gene

Previous GeneCards Identifiers for CAPN2 Gene

  • GC01M222640
  • GC01M219933
  • GC01P220400
  • GC01P220874
  • GC01P220206
  • GC01P221966
  • GC01P223890
  • GC01P194501

Summaries for CAPN2 Gene

Entrez Gene Summary for CAPN2 Gene

  • The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 2. Multiple heterogeneous transcriptional start sites in the 5' UTR have been reported. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

GeneCards Summary for CAPN2 Gene

CAPN2 (Calpain 2) is a Protein Coding gene. Diseases associated with CAPN2 include Inflammatory Bowel Disease 15 and Nuclear Senile Cataract. Among its related pathways are ERK Signaling and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include calcium ion binding and peptidase activity. An important paralog of this gene is CAPN1.

UniProtKB/Swiss-Prot Summary for CAPN2 Gene

  • Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. Proteolytically cleaves MYOC at 'Arg-226' (PubMed:17650508). Proteolytically cleaves CPEB3 following neuronal stimulation which abolishes CPEB3 translational repressor activity, leading to translation of CPEB3 target mRNAs (By similarity).

Tocris Summary for CAPN2 Gene

  • Calpains are a group of calcium-sensitive cysteine proteases that are ubiquitously expressed in mammals. Structurally, calpains contain two subunits; an 80 kDa catalytic subunit and a 28 kDa regulatory subunit that functions as a chaperone to stabilize the 80 kDa structure.

Gene Wiki entry for CAPN2 Gene

Additional gene information for CAPN2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CAPN2 Gene

Genomics for CAPN2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CAPN2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CAPN2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CAPN2

Top Transcription factor binding sites by QIAGEN in the CAPN2 gene promoter:
  • Bach1
  • C/EBPalpha
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • MIF-1
  • MyoD
  • p53
  • Pax-3

Genomic Locations for CAPN2 Gene

Latest Assembly
chr1:223,701,593-223,776,018
(GRCh38/hg38)
Size:
74,426 bases
Orientation:
Plus strand

Previous Assembly
chr1:223,889,299-223,963,720
(GRCh37/hg19 by Entrez Gene)
Size:
74,422 bases
Orientation:
Plus strand

chr1:223,889,295-223,963,720
(GRCh37/hg19 by Ensembl)
Size:
74,426 bases
Orientation:
Plus strand

Genomic View for CAPN2 Gene

Genes around CAPN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAPN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAPN2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CAPN2 Gene

Proteins for CAPN2 Gene

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  3. Assay products for research

  • Protein details for CAPN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17655-CAN2_HUMAN
    Recommended name:
    Calpain-2 catalytic subunit
    Protein Accession:
    P17655
    Secondary Accessions:
    • A6NDG7
    • B7ZA96
    • E7ES58
    • Q16738
    • Q6PJT3
    • Q8WU26
    • Q9HBB1

    Protein attributes for CAPN2 Gene

    Size:
    700 amino acids
    Molecular mass:
    79995 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Forms a heterodimer with a small (regulatory) subunit (CAPNS1). Interacts with CPEB3; this leads to cleavage of CPEB3.
    SequenceCaution:
    • Sequence=AAH07686.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH11828.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CAPN2 Gene

    Alternative splice isoforms for CAPN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CAPN2 Gene

Protein Expression for CAPN2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CAPN2 Gene

P17655:
  • RNPWGEVEW
  • EDGEFWMSFSDFL
  • TFINLREVLNRFKLP
  • GSLLGCSI
  • LGDCWLLA
  • YEALSGG
  • LVKGHAY
  • FINLREV
  • LFQDPSFPA
  • VPSTFEPNK
  • YAGIFHFQFWQYGEWV
  • TAGGCRN
  • TTEGFEDFTGGIAEWYEL
  • GDFCIRVFSEKKADYQ
  • RTDICQG
  • DFLRHYSRLEICNLTPDTL
  • LEICNLTPD
  • DAEISAFEL
  • GELLFVHSAEGSEFWSALLEKAYAK
  • LIIDFDNFVRCL
  • IVARFAD
  • IKLEEEDED
  • GATRTDI
  • GQTNIHL
  • LWTKIQKYQKIYREIDVDRSGTMNSYEMR
  • YAGIFHF
  • GGATRTDICQGALGDCWLLAAIASLTLNEEILARVVP
  • LLEKAYAK
  • EGFEDFTGG
  • DMHTIGF
  • QKLVKGHAYSVTGAEEV
  • RGSTAGGC

Post-translational modifications for CAPN2 Gene

  • Ubiquitination at Lys26, Lys260, Lys476, and Lys674
  • Modification sites at PhosphoSitePlus

Other Protein References for CAPN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CAPN2 Gene

Gene Families for CAPN2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CAPN2 Gene

InterPro:
Blocks:
  • Calpain cysteine protease (C2) family signature
ProtoNet:

Suggested Antigen Peptide Sequences for CAPN2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79110, highly similar to Calpain-2 catalytic subunit (EC 3.4.22.53) (B7ZA96_HUMAN)
  • Millimolar-calpain (CAN2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P17655

UniProtKB/Swiss-Prot:

CAN2_HUMAN :
  • Belongs to the peptidase C2 family.
Family:
  • Belongs to the peptidase C2 family.
genes like me logo Genes that share domains with CAPN2: view

Function for CAPN2 Gene

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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for CAPN2 Gene

UniProtKB/Swiss-Prot Function:
Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. Proteolytically cleaves MYOC at 'Arg-226' (PubMed:17650508). Proteolytically cleaves CPEB3 following neuronal stimulation which abolishes CPEB3 translational repressor activity, leading to translation of CPEB3 target mRNAs (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Broad endopeptidase specificity.; EC=3.4.22.53;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by 200-1000 micromolar concentrations of calcium and inhibited by calpastatin.
GENATLAS Biochemistry:
calpain,class A,large polypeptide L2,calcium dependent neutral cysteine proteinase,papain superfamily,m type

Enzyme Numbers (IUBMB) for CAPN2 Gene

Phenotypes From GWAS Catalog for CAPN2 Gene

Gene Ontology (GO) - Molecular Function for CAPN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004198 calcium-dependent cysteine-type endopeptidase activity IDA,ISS --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 10639123
GO:0008092 cytoskeletal protein binding NAS 12150984
GO:0008234 cysteine-type peptidase activity TAS 2209092
genes like me logo Genes that share ontologies with CAPN2: view
genes like me logo Genes that share phenotypes with CAPN2: view

Animal Models for CAPN2 Gene

MGI Knock Outs for CAPN2:

Animal Models for research

  • Taconic Biosciences Mouse Models for CAPN2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAPN2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CAPN2 Gene

Localization for CAPN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAPN2 Gene

Cytoplasm. Cell membrane. Note=Translocates to the plasma membrane upon Ca(2+) binding.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CAPN2 gene
Compartment Confidence
plasma membrane 5
cytosol 5
extracellular 4
cytoskeleton 4
mitochondrion 4
nucleus 4
endoplasmic reticulum 4
golgi apparatus 4
lysosome 3
peroxisome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CAPN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA,ISS --
GO:0005758 mitochondrial intermembrane space IEA --
GO:0005764 lysosome IEA --
genes like me logo Genes that share ontologies with CAPN2: view

Pathways & Interactions for CAPN2 Gene

genes like me logo Genes that share pathways with CAPN2: view

Pathways by source for CAPN2 Gene

1 Sino Biological pathway for CAPN2 Gene
1 GeneGo (Thomson Reuters) pathway for CAPN2 Gene
  • Cytoskeleton remodeling FAK signaling
1 Tocris pathway for CAPN2 Gene
6 Qiagen pathways for CAPN2 Gene
  • Calcium Mediated T-Cell Apoptosis
  • Calpain Protease Regulates Cellular Mechanics
  • Caspase Cascade
  • ERK Signaling
  • FAK1 Signaling
1 Cell Signaling Technology pathway for CAPN2 Gene
1 GeneTex pathway for CAPN2 Gene

SIGNOR curated interactions for CAPN2 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CAPN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0001824 blastocyst development IEA --
GO:0006508 proteolysis ISS --
GO:0007520 myoblast fusion IEA --
GO:0007565 female pregnancy IEA --
genes like me logo Genes that share ontologies with CAPN2: view

Drugs & Compounds for CAPN2 Gene

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(18) Drugs for CAPN2 Gene - From: ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calpeptin Pharma Ca2+-dependent protease,calpain inhibitor, Calpain and cathepsin L inhibitor 0
MDL 28170 Pharma Calpain and cathepsin B inhibitor, selective, Potent, selective calpain and cathepsin B inhibitor 0
Calcium Nutra 6876
Acetyl-Calpastatin (184-210) (human) Pharma Calpain I/II inhibitor 0
Calpain Inhibitor I, ALLN Pharma Calpain I/II/ B/L inhibitor 0

(11) Additional Compounds for CAPN2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) Tocris Compounds for CAPN2 Gene

Compound Action Cas Number
Calpeptin Calpain and cathepsin L inhibitor 117591-20-5
MDL 28170 Potent, selective calpain and cathepsin B inhibitor 88191-84-8

(6) ApexBio Compounds for CAPN2 Gene

Compound Action Cas Number
Acetyl-Calpastatin (184-210) (human) Calpain I/II inhibitor 123714-50-1
Calpain Inhibitor I, ALLN Calpain I/II/ B/L inhibitor 110044-82-1
Calpain Inhibitor II, ALLM Calpain inhibitor 136632-32-1
Calpeptin Ca2+-dependent protease,calpain inhibitor 117591-20-5
MDL 28170 Calpain and cathepsin B inhibitor, selective 88191-84-8
PD 151746 calpain inhibitor, cell-permeable 179461-52-0
genes like me logo Genes that share compounds with CAPN2: view

Drug products for research

Transcripts for CAPN2 Gene

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mRNA/cDNA for CAPN2 Gene

2 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAPN2

Alternative Splicing Database (ASD) splice patterns (SP) for CAPN2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b · 18c ^ 19a ·
SP1: - - - - -
SP2: - - -
SP3: -
SP4: -
SP5:
SP6:
SP7: - -
SP8:
SP9:
SP10:

ExUns: 19b · 19c ^ 20a · 20b
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: - -
SP9:
SP10:

Relevant External Links for CAPN2 Gene

GeneLoc Exon Structure for
CAPN2

Expression for CAPN2 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CAPN2 Gene

mRNA expression in normal human tissues for CAPN2 Gene
mRNA expression by GTEx for CAPN2 GenemRNA expression by BioGPS for CAPN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CAPN2 Gene

This gene is overexpressed in Breast (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CAPN2 Gene



Protein tissue co-expression partners for CAPN2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CAPN2

SOURCE GeneReport for Unigene cluster for CAPN2 Gene:

Hs.350899

mRNA Expression by UniProt/SwissProt for CAPN2 Gene:

P17655-CAN2_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for CAPN2 Gene

  • Pancreas(4.7)
  • Skin(4.7)
  • Nervous system(4.7)
  • Liver(4.6)
  • Blood(4.5)
  • Lung(4.5)
  • Lymph node(4.4)
  • Kidney(3.7)
  • Intestine(3.5)
  • Muscle(3)
  • Heart(2.8)
  • Stomach(2.6)
  • Adrenal gland(2.5)
  • Eye(2.4)
  • Thyroid gland(2.2)
  • Spleen(2.1)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with CAPN2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CAPN2 Gene

Orthologs for CAPN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CAPN2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CAPN2 30 31
  • 99.67 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CAPN2 30 31
  • 90.38 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Capn2 30
  • 88.1 (n)
Mouse
(Mus musculus)
 Mammalia Capn2 30 17 31
  • 87.67 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia CAPN2 31
  • 87 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CAPN2 31
  • 87 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CAPN2 30 31
  • 86.37 (n)
 OneToOne
Chicken
(Gallus gallus)
 Aves CAPN2 30 31
  • 77.95 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CAPN2 31
  • 82 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia capn2.2 30
  • 71.44 (n)
Str.4897 30
African clawed frog
(Xenopus laevis)
 Amphibia MGC68474 30
Zebrafish
(Danio rerio)
 Actinopterygii CAPN2 (3 of 4) 31
  • 69 (a)
 OneToMany
capn2a 31
  • 67 (a)
 OneToMany
capn2l 30 31
  • 66.1 (n)
 OneToMany
capn2b 31
  • 65 (a)
 OneToMany
-- 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.5054 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CalpA 32
  • 49 (a)
CalpB 32
  • 44 (a)
CalpC 32
  • 27 (a)
Worm
(Caenorhabditis elegans)
 Secernentea clp-7 32
  • 45 (a)
clp-6 32
  • 44 (a)
clp-3 32
  • 37 (a)
Species where no ortholog for CAPN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CAPN2 Gene

ENSEMBL:
Gene Tree for CAPN2 (if available)
TreeFam:
Gene Tree for CAPN2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CAPN2: view image

Paralogs for CAPN2 Gene

Paralogs for CAPN2 Gene

(14) SIMAP similar genes for CAPN2 Gene using alignment to 2 proteins:

  • CAN2_HUMAN
  • C9JWY7_HUMAN
genes like me logo Genes that share paralogs with CAPN2: view

Variants for CAPN2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CAPN2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs147235023 Likely Benign: not provided 223,745,429(+) G/A
NM_001748.5(CAPN2):c.550G>A (p.Ala184Thr) 		MISSENSE
rs2230082 Benign: not provided. - 223,772,189(+) A/Cp.Lys677Gln
NM_001748.5(CAPN2):c.2029A>C (p.Lys677Gln) 		MISSENSE
rs28370008 Benign: not provided 223,712,784(+) C/T
NM_001748.5(CAPN2):c.144C>T (p.Asp48=) 		SYNONYMOUS_VARIANT,INTRON
rs28370082 Benign: not provided 223,752,865(+) C/T
NM_001748.5(CAPN2):c.1044C>T (p.Leu348=) 		SYNONYMOUS
rs573919326 Benign: not provided 223,712,873(+) C/CCACGGTAGGAAGC
NM_001748.5(CAPN2):c.235_237+11dup 		SPLICE_DONOR_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CAPN2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CAPN2 Gene

Variant ID Type Subtype PubMed ID
esv2759000 CNV gain+loss 17122850
esv3307033 CNV mobile element insertion 20981092
esv3310267 CNV mobile element insertion 20981092
esv3402894 CNV insertion 20981092
esv34082 CNV loss 18971310
nsv1133940 CNV deletion 24896259
nsv437346 CNV loss 16327808
nsv4698 CNV insertion 18451855
nsv520609 CNV loss 19592680
nsv521758 CNV loss 19592680
nsv832681 CNV gain 17160897

Variation tolerance for CAPN2 Gene

Residual Variation Intolerance Score: 75.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.43; 92.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CAPN2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAPN2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAPN2 Gene

Disorders for CAPN2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for CAPN2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
inflammatory bowel disease 15
  • ibd15
nuclear senile cataract
  • senile nuclear cataract
machado-joseph disease
  • mjd
muscular dystrophy
  • muscular dystrophies
coffin-siris syndrome 1
  • css1
- elite association - COSMIC cancer census association via MalaCards
Search CAPN2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CAPN2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CAPN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CAPN2 Gene

Publications for CAPN2 Gene

  1. The crystal structure of calcium-free human m-calpain suggests an electrostatic switch mechanism for activation by calcium. (PMID: 10639123) Strobl S ā€¦ Bode W (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 23
  2. Tandemly reiterated negative enhancer-like elements regulate transcription of a human gene for the large subunit of calcium-dependent protease. (PMID: 2539381) Hata A ā€¦ Suzuki K (The Journal of biological chemistry 1989) 2 3 4
  3. Molecular cloning of the cDNA for the large subunit of the high-Ca2+-requiring form of human Ca2+-activated neutral protease. (PMID: 2852952) Imajoh S ā€¦ Suzuki K (Biochemistry 1988) 2 3 4
  4. TRPM7 activates m-calpain by stress-dependent stimulation of p38 MAPK and c-Jun N-terminal kinase. (PMID: 20070945) Su LT ā€¦ Runnels LW (Journal of molecular biology 2010) 3 23
  5. m-Calpain antagonizes RhoA overactivation and endothelial barrier dysfunction under disturbed shear conditions. (PMID: 19752040) Miyazaki T ā€¦ Ohata H (Cardiovascular research 2010) 3 23

ExternalLinks

View latest publications for CAPN2 gene in Mastermind

Products for CAPN2 Gene

  • Addgene plasmids for CAPN2

Sources for CAPN2 Gene