Aliases for CAPN2 Gene
Aliases for CAPN2 Gene
External Ids for CAPN2 Gene
- HGNC: 1479
- Entrez Gene: 824
- Ensembl: ENSG00000162909
- OMIM: 114230
- UniProtKB: 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 Alzheimer Disease. Among its related pathways are B Cell Receptor Signaling Pathway (sino) and Development Endothelin-1/EDNRA signaling. 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 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
- Monarch Initiative
- Search for CAPN2 at DataMed
- Search for CAPN2 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAPN2 Gene
Genomics for CAPN2 Gene
GeneHancer (GH) Regulatory Elements for CAPN2 Gene
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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CAPN2 gene promoter:
-
- p53
- MIF-1
- Bach1
- Meis-1a
- Meis-1
- HOXA9B
- HOXA9
- MyoD
- Pax-3
- C/EBPalpha
Regulatory Element Products
Genomic Locations for CAPN2 Gene
Genomic Locations for CAPN2 Gene
- chr1:223,701,593-223,776,018
- (GRCh38/hg38)
- Size:
- 74,426 bases
- Orientation:
- Plus strand
- chr1:223,889,295-223,963,720
- (GRCh37/hg19)
- 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:
-
- 1q41 by Entrez Gene
- 1q41 by HGNC
- 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
Post-translational modifications for CAPN2 Gene
Other Protein References for CAPN2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for CAPN2
-
Abcam antibodies for CAPN2
- Invitrogen Antibodies for CAPN2 (AFLGC-CAPN2)
- GeneTex CAPN2 Antibody for CAPN2
-
Santa Cruz Biotechnology (SCBT) Antibodies for CAPN2
Protein Products
-
OriGene Purified Proteins for CAPN2
- Search Origene for MassSpec and Protein Over-expression Lysates for CAPN2
- Origene Custom Protein Services for CAPN2
- Search GeneTex for Proteins for CAPN2
-
ProSci Proteins for CAPN2
-
Abcam proteins for CAPN2
No data available for DME Specific Peptides for CAPN2 Gene
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
Suggested Antigen Peptide Sequences for CAPN2 Gene
- GenScript: Design optimal peptide antigens:
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:
- Broad endopeptidase specificity.
- 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:0008233 | peptidase activity | IEA | -- |
Phenotypes for CAPN2 Gene
- MGI mutant phenotypes for CAPN2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for CAPN2:
-
- Decreased shRNA abundance (Z-score < -2)
- Decreased NANOG protein expression
- Decreased OCT4 protein expression
- Decreased POU5F1-GFP protein expression
- Increased shRNA abundance (Z-score > 2)
- Decreased viability
- Increased cell migration
- Decreased cell migration
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased caspase 3/7 activity
- shRNA abundance <= 50%
- Increased viability
- Synthetic lethal with vaccinia virus (VACV) infection
Animal Model Products
-
Taconic Biosciences Mouse Models for CAPN2
- Cyagen custom Knockout/knockin (KOKI) mouse models for CAPN2
-
CRISPR Products
-
OriGene CRISPR knockouts for CAPN2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CAPN2
- genomics-online: gRNA clones - Search results for 106 available CAPN2 gene related products
- Overview of 106 available CAPN2 gene related products
- Applied Biological Materials CRISPR for CAPN2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CAPN2
- GenScript: Design CRISPR guide RNA sequences for CAPN2
miRNA for CAPN2 Gene
- miRTarBase miRNAs that target CAPN2
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 106 available CAPN2 gene related products
- Overview of 106 available CAPN2 gene related products
Clone Products
- 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
- Applied Biological Materials Clones for CAPN2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
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 |
| extracellular | 5 |
| cytoskeleton | 5 |
| cytosol | 5 |
| endoplasmic reticulum | 4 |
| golgi apparatus | 4 |
| nucleus | 3 |
| mitochondrion | 2 |
| lysosome | 2 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000785 | chromatin | IEA | -- |
| GO:0005622 | intracellular | IEA | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | ISS | -- |
| GO:0005764 | lysosome | IEA | -- |
Pathways & Interactions for CAPN2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | ||
| 2 | Focal Adhesion |
.62
|
|
| 3 | BMP Pathway |
.36
|
|
| 4 | Degradation of the extracellular matrix | ||
| 5 | Neurodegenerative Diseases | ||
Pathways by source for CAPN2 Gene
1 Sino Biological pathway for CAPN2 Gene
1 GeneTex pathway for CAPN2 Gene
4 BioSystems pathways for CAPN2 Gene
5 Reactome pathways for CAPN2 Gene
6 KEGG pathways for CAPN2 Gene
1 GeneGo (Thomson Reuters) pathway for CAPN2 Gene
1 Tocris pathway for CAPN2 Gene
6 Qiagen pathways for CAPN2 Gene
1 Cell Signaling Technology pathway for CAPN2 Gene
Interacting Proteins for CAPN2 Gene
Selected Interacting proteins:
P17655-CAN2_HUMAN
ENSP00000295006
for CAPN2 Gene via
MINT
STRING
UniProtKB
IID
GPS-Prot Interaction Network for CAPN2
| 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:0016540 | protein autoprocessing | IEA | -- |
Drugs & Compounds for CAPN2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| calcium | Approved | Nutra | 0 | |||
| 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 | |||
| 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
Drug Products
Transcripts for CAPN2 Gene
mRNA/cDNA for CAPN2 Gene
- (2) REFSEQ mRNAs :
- (15) Additional mRNA sequences :
- (562) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000434648 577 bps (uc057psn.1)
- ENST00000295006 3573 bps (uc001hob.5)
- ENST00000483579 496 bps (uc057pso.1)
- ENST00000480581 513 bps (uc057psp.1)
- ENST00000474026 4130 bps (uc057psq.1)
Unigene Clusters for CAPN2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CAPN2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CAPN2
- genomics-online: gRNA clones - Search results for 106 available CAPN2 gene related products
- Overview of 106 available CAPN2 gene related products
- Applied Biological Materials CRISPR for CAPN2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CAPN2
- GenScript: Design CRISPR guide RNA sequences for CAPN2
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 106 available CAPN2 gene related products
- Overview of 106 available CAPN2 gene related products
Clone Products
- 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
- Applied Biological Materials Clones for CAPN2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
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
NURSA nuclear receptor signaling pathways regulating expression of CAPN2 Gene:
CAPN2SOURCE 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(4.6)
- Skin(4.6)
- Nervous system(4.6)
- Liver(4.5)
- Lung(4.4)
- Lymph node(4.3)
- Blood(4.2)
- Kidney(3.2)
- Intestine(3)
- Muscle(2.6)
- Gall bladder(2)
Primer Products
-
OriGene qPCR primer pairs for CAPN2
-
OriGene qPCR primer pairs and template standards for CAPN2
Gene Expression Assay Products
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 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CAPN2 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Capn2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Capn2 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CAPN2 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CAPN2 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CAPN2 34 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CAPN2 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CAPN2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | capn2.2 33 |
|
||
| Str.4897 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68474 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | CAPN2 (3 of 4) 34 |
|
OneToMany | |
| capn2a 34 |
|
OneToMany | |||
| capn2l 34 33 |
|
OneToMany | |||
| capn2b 34 |
|
OneToMany | |||
| -- 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5054 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CalpA 35 |
|
|
|
| CalpB 35 |
|
|
|||
| CalpC 35 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | clp-7 35 |
|
|
|
| clp-6 35 |
|
|
|||
| clp-3 35 |
|
|
- Species where no ortholog for CAPN2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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
Variants for CAPN2 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000002729 | -- | 223,737,921(+) | C/G | intron_variant | |
| rs1000032679 | -- | 223,772,387(+) | C/A | genic_downstream_transcript_variant, intron_variant | |
| rs1000058332 | -- | 223,729,584(+) | G/T | intron_variant | |
| rs1000092672 | -- | 223,723,701(+) | C/T | intron_variant | |
| rs1000114478 | -- | 223,700,729(+) | C/T | upstream_transcript_variant |
| 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
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- CAPN2
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAPN2 Gene
Disorders for CAPN2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| alzheimer disease |
|
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 of Genetics and Cytogenetics in Oncology and Haematology
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 … Bode W (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 22 58
- Tandemly reiterated negative enhancer-like elements regulate transcription of a human gene for the large subunit of calcium-dependent protease. (PMID: 2539381) Hata A … Suzuki K (The Journal of biological chemistry 1989) 2 3 4 58
- 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 … Suzuki K (Biochemistry 1988) 2 3 4 58
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
- A Large-scale genetic association study of esophageal adenocarcinoma risk. (PMID: 20453000) Liu CY … Christiani DC (Carcinogenesis 2010) 3 44 58
Products for CAPN2 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
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- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for CAPN2
- Search Origene for MassSpec and Protein Over-expression Lysates for CAPN2
- Origene Custom Protein Services for CAPN2
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CAPN2
- Browse OriGene Inhibitory RNA Products For CAPN2
- OriGene qPCR primer pairs for CAPN2
- OriGene qPCR primer pairs and template standards for CAPN2
- OriGene CRISPR knockouts for CAPN2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CAPN2
- GenScript: Next-day shipping of latest version cDNA ORF clones for CAPN2 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for CAPN2
- GenScript Custom Assay Services for CAPN2
- GenScript Custom overexpressing Cell Line Services for CAPN2
- GenScript: Design CRISPR guide RNA sequences for CAPN2
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for CAPN2
- Sino Biological Human cDNA Clone for CAPN2
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for CAPN2
- Novus Biologicals lysates and proteins for CAPN2
- Novus Biologicals ELISA Kits for CAPN2
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for CAPN2
- Abcam proteins for CAPN2
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
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- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for CAPN2
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for CAPN2 (AFLGC-CAPN2)
- Cyagen custom Knockout/knockin (KOKI) mouse models for CAPN2
- Addgene plasmids for CAPN2
- antibodies-online: Search results for 33 available CAPN2 Antibodies ranked by validation data
- Compare Top CAPN2 Antibodies
- antibodies-online: Search results for 18 available CAPN2 Elisa Kits ranked by validation data
- Compare Top CAPN2 Elisa Kits
- antibodies-online: Search results for 7 available CAPN2 Proteins ranked by validation data
- Compare Top CAPN2 Proteins
- GeneTex CAPN2 Antibody for CAPN2
- Search GeneTex for Proteins for CAPN2
- Santa Cruz Biotechnology (SCBT) Antibodies for CAPN2
- Search Santa Cruz Biotechnology (SCBT) for CAPN2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CAPN2
- Search for CAPN2 Antibodies at ProSci
- Custom Antibody Services
- ProSci Proteins for CAPN2
- Horizon Cell Lines for CAPN2
- genomics-online: cdna clones - Search results for 106 available CAPN2 gene related products
- Overview of 106 available CAPN2 gene related products
- orf clones - Search results for 106 available CAPN2 gene related products
- Overview of 106 available CAPN2 gene related products
- genomics-online: gRNA clones - Search results for 106 available CAPN2 gene related products
- Overview of 106 available CAPN2 gene related products
- genomics-online: primer clones - Search results for 106 available CAPN2 gene related products
- Overview of 106 available CAPN2 gene related products
- genomics-online: shRNA clones - Search results for 106 available CAPN2 gene related products
- Overview of 106 available CAPN2 gene related products
- 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
- GeneCopoeia 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) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156)