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Aliases for CAPN13 Gene

Aliases for CAPN13 Gene

  • Calpain 13 2 3 5
  • Calcium-Activated Neutral Proteinase 13 4
  • EC 3.4.22.- 4
  • CANP 13 4

External Ids for CAPN13 Gene

Previous GeneCards Identifiers for CAPN13 Gene

  • GC02M030860
  • GC02M031061
  • GC02M030938
  • GC00U916966
  • GC02M030857
  • GC02M030799
  • GC02M030945

Summaries for CAPN13 Gene

Entrez Gene Summary for CAPN13 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 a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]

GeneCards Summary for CAPN13 Gene

CAPN13 (Calpain 13) is a Protein Coding gene. Among its related pathways are Degradation of the extracellular matrix and Apoptosis Pathway. GO annotations related to this gene include calcium ion binding and calcium-dependent cysteine-type endopeptidase activity. An important paralog of this gene is CAPN9.

UniProtKB/Swiss-Prot for CAPN13 Gene

  • Probable non-lysosomal thiol-protease.

Tocris Summary for CAPN13 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.

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAPN13 Gene

Genomics for CAPN13 Gene

Regulatory Elements for CAPN13 Gene

Genomic Location for CAPN13 Gene

Chromosome:
2
Start:
30,722,771 bp from pter
End:
30,820,542 bp from pter
Size:
97,772 bases
Orientation:
Minus strand

Genomic View for CAPN13 Gene

Genes around CAPN13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAPN13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAPN13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAPN13 Gene

Proteins for CAPN13 Gene

  • Protein details for CAPN13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6MZZ7-CAN13_HUMAN
    Recommended name:
    Calpain-13
    Protein Accession:
    Q6MZZ7
    Secondary Accessions:
    • Q17RF0
    • Q580X1
    • Q8TE80

    Protein attributes for CAPN13 Gene

    Size:
    669 amino acids
    Molecular mass:
    76696 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CAPN13 Gene

    Alternative splice isoforms for CAPN13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CAPN13 Gene

Proteomics data for CAPN13 Gene at MOPED

Post-translational modifications for CAPN13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CAPN13 Gene

Antibody Products

No data available for DME Specific Peptides for CAPN13 Gene

Domains & Families for CAPN13 Gene

Gene Families for CAPN13 Gene

Suggested Antigen Peptide Sequences for CAPN13 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6MZZ7

UniProtKB/Swiss-Prot:

CAN13_HUMAN :
  • Contains 1 calpain catalytic domain.
  • Belongs to the peptidase C2 family.
Domain:
  • Contains 1 calpain catalytic domain.
  • Contains 2 EF-hand domains.
Family:
  • Belongs to the peptidase C2 family.
genes like me logo Genes that share domains with CAPN13: view

Function for CAPN13 Gene

Molecular function for CAPN13 Gene

UniProtKB/Swiss-Prot Function:
Probable non-lysosomal thiol-protease.

Enzyme Numbers (IUBMB) for CAPN13 Gene

Gene Ontology (GO) - Molecular Function for CAPN13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004198 calcium-dependent cysteine-type endopeptidase activity IBA --
genes like me logo Genes that share ontologies with CAPN13: view

Phenotypes for CAPN13 Gene

genes like me logo Genes that share phenotypes with CAPN13: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CAPN13

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CAPN13 Gene

Localization for CAPN13 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CAPN13 Gene COMPARTMENTS Subcellular localization image for CAPN13 gene
Compartment Confidence
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for CAPN13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with CAPN13: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CAPN13 Gene

Pathways & Interactions for CAPN13 Gene

genes like me logo Genes that share pathways with CAPN13: view

Pathways by source for CAPN13 Gene

1 Tocris pathway for CAPN13 Gene

Interacting Proteins for CAPN13 Gene

Gene Ontology (GO) - Biological Process for CAPN13 Gene

None

No data available for SIGNOR curated interactions for CAPN13 Gene

Drugs & Compounds for CAPN13 Gene

(2) Drugs for CAPN13 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
MDL 28170 Pharma Calpain and cathepsin B inhibitor, selective, Potent, selective calpain and cathepsin B inhibitor 0

(4) Additional Compounds for CAPN13 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Acetyl-Calpastatin (184-210) (human)
123714-50-1
Calpeptin
117591-20-5
MG 132
133407-82-6
PD 150606
179528-45-1

(5) Tocris Compounds for CAPN13 Gene

Compound Action Cas Number
Acetyl-Calpastatin (184-210) (human) Selective calpain inhibitor 123714-50-1
Calpeptin Calpain and cathepsin L inhibitor 117591-20-5
MDL 28170 Potent, selective calpain and cathepsin B inhibitor 88191-84-8
MG 132 Proteasome and calpain inhibitor. Inhibits NF-kappaB activation 133407-82-6
PD 150606 Cell permeable calpain inhibitor 179528-45-1
genes like me logo Genes that share compounds with CAPN13: view

Transcripts for CAPN13 Gene

Unigene Clusters for CAPN13 Gene

Calpain 13:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CAPN13 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^
SP1:
SP2:
SP3: -
SP4: -
SP5: - - -
SP6:

ExUns: 22 ^ 23
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for CAPN13 Gene

GeneLoc Exon Structure for
CAPN13
ECgene alternative splicing isoforms for
CAPN13

Expression for CAPN13 Gene

mRNA expression in normal human tissues for CAPN13 Gene

mRNA differential expression in normal tissues according to GTEx for CAPN13 Gene

This gene is overexpressed in Stomach (x13.2), Small Intestine - Terminal Ileum (x10.5), Colon - Transverse (x5.3), and Cervix - Endocervix (x5.2).

Protein differential expression in normal tissues from HIPED for CAPN13 Gene

This gene is overexpressed in Pancreatic juice (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CAPN13 Gene



SOURCE GeneReport for Unigene cluster for CAPN13 Gene Hs.660911

mRNA Expression by UniProt/SwissProt for CAPN13 Gene

Q6MZZ7-CAN13_HUMAN
Tissue specificity: Weakly expressed in lung and testis. Weakly or not expressed in other tissues.
genes like me logo Genes that share expression patterns with CAPN13: view

Protein tissue co-expression partners for CAPN13 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CAPN13 Gene

Orthologs for CAPN13 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CAPN13 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CAPN13 35
  • 73.99 (n)
  • 61.09 (a)
CAPN13 36
  • 65 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CAPN13 35
  • 76.26 (n)
  • 63.86 (a)
CAPN13 36
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Capn13 35
  • 75.85 (n)
  • 67.73 (a)
Capn13 16
Capn13 36
  • 68 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CAPN13 35
  • 96.75 (n)
  • 95.69 (a)
CAPN13 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Capn13 35
  • 75.34 (n)
  • 67.37 (a)
oppossum
(Monodelphis domestica)
Mammalia CAPN13 36
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CAPN13 36
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves CAPN13 35
  • 55.22 (n)
  • 43.71 (a)
CAPN13 36
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CAPN13 36
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia capn13 35
  • 53.3 (n)
  • 42.03 (a)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-202f3.3 36
  • 33 (a)
ManyToMany
si:ch211-202f3.4 36
  • 33 (a)
ManyToMany
zgc:136872 36
  • 34 (a)
ManyToMany
zgc:162184 36
  • 32 (a)
ManyToMany
Species with no ortholog for CAPN13:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for CAPN13 Gene

ENSEMBL:
Gene Tree for CAPN13 (if available)
TreeFam:
Gene Tree for CAPN13 (if available)

Paralogs for CAPN13 Gene

Paralogs for CAPN13 Gene

(7) SIMAP similar genes for CAPN13 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CAPN13: view

Variants for CAPN13 Gene

Sequence variations from dbSNP and Humsavar for CAPN13 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs17010210 - 30,763,111(+) GGCAT(A/G)GAGAC nc-transcript-variant, reference, missense
rs508405 - 30,758,074(-) GCGAG(A/G)CCGAA nc-transcript-variant, reference, missense
rs2276568 - 30,734,460(+) TCTCT(A/G)TGGCC nc-transcript-variant, reference, missense
rs476216 -- 30,729,624(+) AAATA(C/T)GATTG intron-variant, utr-variant-3-prime
rs477229 -- 30,735,271(+) TGGAT(G/T)AGGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CAPN13 Gene

Variant ID Type Subtype PubMed ID
nsv873770 CNV Loss 21882294
nsv520269 CNV Gain 19592680
nsv456019 CNV Loss 19166990
esv9096 CNV Gain 19470904
nsv833659 CNV Gain 17160897
esv275432 CNV Loss 21479260

Variation tolerance for CAPN13 Gene

Residual Variation Intolerance Score: 97.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.59; 78.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CAPN13 Gene

HapMap Linkage Disequilibrium report
CAPN13
Human Gene Mutation Database (HGMD)
CAPN13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAPN13 Gene

Disorders for CAPN13 Gene

Relevant External Links for CAPN13

Genetic Association Database (GAD)
CAPN13
Human Genome Epidemiology (HuGE) Navigator
CAPN13
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CAPN13

No disorders were found for CAPN13 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CAPN13 Gene

Publications for CAPN13 Gene

  1. Identification and characterization of two novel calpain large subunit genes. (PMID: 11675017) Dear T.N. … Boehm T. (Gene 2001) 2 3 4 67
  2. Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes. (PMID: 25102180) Ng M.C. … Bowden D.W. (PLoS Genet. 2014) 3
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3
  4. Gene-environment interaction for hypertension among African American women across generations. (PMID: 20591971) Taylor J.Y. … Kardia S.L. (Biol Res Nurs 2010) 3
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3

Products for CAPN13 Gene

Sources for CAPN13 Gene

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