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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
External Ids for CAPN2 Gene
- HGNC: 1479
- NCBI Entrez Gene: 824
- Ensembl: ENSG00000162909
- OMIM®: 114230
- UniProtKB/Swiss-Prot: P17655
Previous GeneCards Identifiers for CAPN2 Gene
- GC01M222640
- GC01M219933
- GC01P220400
- GC01P220874
- GC01P220206
- GC01P221966
- GC01P223890
- GC01P194501
Summaries 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 Apoptosis Modulation and Signaling and Pathways of neurodegeneration - multiple diseases. 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).
-
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.
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
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
Genomic View for CAPN2 Gene
Genes around CAPN2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q41 by HGNC
- 1q41 by Entrez Gene
- 1q41 by Ensembl
CAPN2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CAPN2 Gene
Proteins for CAPN2 Gene
-
Protein details for CAPN2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P17655-CAN2_HUMAN
- Recommended name:
- Calpain-2 catalytic subunit
- Protein Accession:
- P17655
- 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};
Protein Expression for CAPN2 Gene
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
Other Protein References for CAPN2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotagā¢ CAPN2 Antibody
- NSJ Bioreagents Calpain 2 Antibody / CAPN2
-
Custom Antibody ServicesOriGene Antibodies for CAPN2
- Novus Biologicals Antibodies for CAPN2
-
Abcam antibodies for CAPN2
- Invitrogen Antibodies for CAPN2 (AFLGC-CAPN2)
-
Custom Antibody ServicesProSci Antibodies for CAPN2
-
Santa Cruz Biotechnology (SCBT) Antibodies for CAPN2
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for CAPN2
- Origene Custom Protein Services for CAPN2
-
Abcam proteins for CAPN2
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
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- Family:
-
- Belongs to the peptidase C2 family.
Function for CAPN2 Gene
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
| 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 |
Phenotypes for CAPN2 Gene
- MGI mutant phenotypes for CAPN2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for CAPN2:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability
- shRNA abundance <= 50%
- no effect
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased POU5F1-GFP protein expression
- Decreased OCT4 protein expression
- Decreased NANOG protein expression
- Synthetic lethal with vaccinia virus (VACV) infection
- Decreased caspase 3/7 activity
- Decreased cell migration
Animal Models for research
-
Taconic Biosciences Mouse Models for CAPN2
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CAPN2 - Starting at $85 >
- * CAPN2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CAPN2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CAPN2
-
Santa Cruz Biotechnology (SCBT) CRISPR for CAPN2
miRNA for CAPN2 Gene
- miRTarBase miRNAs that target CAPN2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CAPN2
- Browse OriGene Inhibitory RNA Products For CAPN2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAPN2
Clone products for research
- Applied Biological Materials (abm): Clones for CAPN2 - Starting at $45 >
- * CAPN2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for CAPN2
- Addgene plasmids for CAPN2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CAPN2
Cell Lines for research
-
Horizon Cell Lines 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.
| 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 |
- Cytosol (3)
| 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 | -- |
Pathways & Interactions for CAPN2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | DREAM Repression and Dynorphin Expression |
nNOS Signaling in Skeletal Muscle
.37
Caspase Cascade
.36
|
Calpain Protease Regulates Cellular Mechanics
.31
|
| 2 | Pathways of neurodegeneration - multiple diseases | ||
| 3 | Focal Adhesion |
.61
|
|
| 4 | Degradation of the extracellular matrix | ||
| 5 | Neurodegenerative Diseases | ||
Pathways by source for CAPN2 Gene
1 Sino Biological pathway for CAPN2 Gene
4 BioSystems pathways for CAPN2 Gene
5 Reactome pathways for CAPN2 Gene
8 KEGG pathways 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
Interacting Proteins for CAPN2 Gene
Selected Interacting proteins:
P17655-CAN2_HUMAN
ENSP00000295006
for CAPN2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CAPN2
SIGNOR curated interactions 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 | -- |
Drugs & Compounds for CAPN2 Gene
| 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 | 6959 | ||||
| Acetyl-Calpastatin (184-210) (human) | Pharma | Calpain I/II inhibitor | 0 | |||
| Calpain Inhibitor I, ALLN | Pharma | Calpain I/II/ B/L inhibitor | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
(2) Tocris Compounds for CAPN2 Gene
(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 |
Transcripts for CAPN2 Gene
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 :
-
- ENST00000295006 3366 nts (view in UCSC)
- ENST00000433674 3264 nts (view in UCSC)
- ENST00000434648 577 nts (view in UCSC)
- ENST00000463997 2547 nts (view in UCSC)
- ENST00000472601 625 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CAPN2 - Starting at $85 >
- * CAPN2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CAPN2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CAPN2
-
Santa Cruz Biotechnology (SCBT) CRISPR for CAPN2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CAPN2
- Browse OriGene Inhibitory RNA Products For CAPN2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAPN2
Clone products for research
- Applied Biological Materials (abm): Clones for CAPN2 - Starting at $45 >
- * CAPN2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for CAPN2
- Addgene plasmids for CAPN2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CAPN2
| 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
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Ovary (Reproductive System)
- Ovarian Mesenchymal Stroma Cells Ovary Interstitium
-
Testis (Reproductive System)
- Testicular Interstitial Cells Testis Interstitium
-
Epidermis (Integumentary System)
- Spinous Keratinocytes Stratified Epidermis
-
Epithelial Cells
- Spinous Keratinocytes Stratified Epidermis
-
Trophoblast (Extraembryonic Tissues)
- Mural Trophectoderm Cells Mural Trophectoderm
- Brain (Nervous System)
-
Uterus (Reproductive System)
-
Colon (Gastrointestinal Tract)
-
Prostate (Endocrine System)
-
Placenta (Extraembryonic Tissues)
-
Spleen (Hematopoietic System)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Kidney (Urinary System)
-
Adrenal Gland (Endocrine System)
-
Esophagus (Gastrointestinal Tract)
-
Stomach (Gastrointestinal Tract)
-
Adipose (Muscoskeletal System)
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CAPN2
SOURCE GeneReport for Unigene cluster for CAPN2 Gene:
Hs.350899mRNA 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)
Primer products for research
-
OriGene qPCR primer pairs for CAPN2
-
OriGene qPCR primer pairs and template standards for CAPN2
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CAPN2 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CAPN2 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Capn2 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Capn2 29 16 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CAPN2 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CAPN2 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CAPN2 29 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CAPN2 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CAPN2 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | capn2.2 29 |
|
||
| Str.4897 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68474 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | CAPN2 (3 of 4) 30 |
|
OneToMany | |
| capn2a 30 |
|
OneToMany | |||
| capn2l 29 30 |
|
OneToMany | |||
| capn2b 30 |
|
OneToMany | |||
| -- 29 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5054 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CalpA 31 |
|
|
|
| CalpB 31 |
|
|
|||
| CalpC 31 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | clp-7 31 |
|
|
|
| clp-6 31 |
|
|
|||
| clp-3 31 |
|
|
- 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
- Alliance of Genome Resources:
- Additional Orthologs for CAPN2
Paralogs for CAPN2 Gene
Paralogs for CAPN2 Gene
(14) SIMAP similar genes for CAPN2 Gene using alignment to 2 proteins:
- CAN2_HUMAN
- C9JWY7_HUMAN
Variants for CAPN2 Gene
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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| inflammatory bowel disease 15 |
|
|
| nuclear senile cataract |
|
|
| machado-joseph disease |
|
|
| muscular dystrophy |
|
|
| coffin-siris syndrome 1 |
|
|
Search CAPN2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CAPN2
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for CAPN2 Gene
Publications for CAPN2 Gene
- 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 22
- 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
- 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
- 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 22
- Calpains: markers of tumor aggressiveness? (PMID: 20193680) Roumes H ā¦ Cottin P (Experimental cell research 2010) 3 22
ExternalLinks
Products for CAPN2 Gene
- Custom Antibody ServicesOriGene Antibodies for CAPN2
- Browse OriGene ELISA Kits
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- Taconic Biosciences Mouse Models for CAPN2
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- VectorBuilder Custom and pre-made DNA vectors for CAPN2 (ie. gene expression, shRNA knockdown, CRISPR)
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- VectorBuilder Virus packaging for CAPN2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for CAPN2
- Addgene plasmids for CAPN2
- antibodies-online: Show 24 available CAPN2 Antibodies ranked by validation data
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- antibodies-online: Show 21 available CAPN2 Elisa Kits ranked by validation data
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- antibodies-online: Show 7 available CAPN2 Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for CAPN2
- Search Santa Cruz Biotechnology (SCBT) for CAPN2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CAPN2
- Custom Antibody ServicesProSci Antibodies for CAPN2
- Search for CAPN2 Proteins at ProSci
- Horizon Cell Lines for CAPN2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CAPN2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CAPN2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for CAPN2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAPN2
Sources for CAPN2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
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- (19) MINT
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- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
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- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
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- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
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- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
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- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104)