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Aliases for CAPN10 Gene

Aliases for CAPN10 Gene

  • Calpain 10 2 3 5
  • Calcium-Activated Neutral Proteinase 10 3 4
  • Calpain-Like Protease CAPN10 3
  • EC 3.4.22.- 4
  • Calpain-10 3
  • KIAA1845 4
  • CANP 10 4
  • CANP10 3
  • NIDDM1 3

External Ids for CAPN10 Gene

Previous GeneCards Identifiers for CAPN10 Gene

  • GC02M239919
  • GC02M240764
  • GC02P241545
  • GC02P241846
  • GC02P241246
  • GC02P241174
  • GC02P233282
  • GC02P241526

Summaries for CAPN10 Gene

Entrez Gene Summary for CAPN10 Gene

  • Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010]

GeneCards Summary for CAPN10 Gene

CAPN10 (Calpain 10) is a Protein Coding gene. Diseases associated with CAPN10 include Diabetes Mellitus, Noninsulin-Dependent 1 and Polycystic Ovary Syndrome. Among its related pathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Apoptosis Pathway. GO annotations related to this gene include cytoskeletal protein binding and calcium-dependent cysteine-type endopeptidase activity. An important paralog of this gene is CAPN15.

UniProtKB/Swiss-Prot for CAPN10 Gene

  • Calcium-regulated non-lysosomal thiol-protease which catalyze limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. May play a role in insulin-stimulated glucose uptake.

Tocris Summary for CAPN10 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 CAPN10 Gene

Additional gene information for CAPN10 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAPN10 Gene

Genomics for CAPN10 Gene

Regulatory Elements for CAPN10 Gene

Enhancers for CAPN10 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H241543 1.3 Ensembl ENCODE 24 +959.5 959486 4 HDGF PKNOX1 ZNF133 ARID4B YBX1 ZNF2 ZNF121 ZNF766 FOS ZNF548 ENSG00000223374 MTERF4 ATG4B ANKMY1 ING5 CAPN10 FARP2 SNED1 D2HGDH DTYMK
GH02H240432 1.6 FANTOM5 ENCODE dbSUPER 10.5 -151.0 -150979 5 ARID4B SIN3A GLIS2 ZNF143 FOS SP5 NFYC REST PPARG SMARCB1 ENSG00000223374 MTERF4 CAPN10-AS1 CAPN10 ANKMY1 GPC1 GC02P240438 GC02P240437
GH02H240558 1.4 ENCODE dbSUPER 11.5 -25.4 -25395 4 HDGF MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 ANKMY1 MTERF4 CAPN10 ENSG00000223374 DUSP28 RNPEPL1
GH02H241313 1.4 ENCODE dbSUPER 11.2 +729.3 729338 4 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SEPT2 ANKMY1 FARP2 MTERF4 HDLBP ING5 ATG4B ENSG00000235351 ANO7 ENSG00000223374
GH02H240620 1.6 FANTOM5 Ensembl ENCODE 9 +37.3 37277 7 PKNOX1 MLX ARID4B DMAP1 ZNF121 ZNF143 ATF7 RUNX3 SP5 ZHX2 GPR35 DUSP28 CAPN10 LOC285191 PASK AQP12B AQP12A MTERF4 RNPEPL1 LOC100420500
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CAPN10 on UCSC Golden Path with GeneCards custom track

Promoters for CAPN10 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000133158 -116 2001 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207 ZNF143

Transcription factor binding sites by QIAGEN in the CAPN10 gene promoter:

Genomic Location for CAPN10 Gene

Chromosome:
2
Start:
240,586,716 bp from pter
End:
240,617,705 bp from pter
Size:
30,990 bases
Orientation:
Plus strand

Genomic View for CAPN10 Gene

Genes around CAPN10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAPN10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAPN10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAPN10 Gene

Proteins for CAPN10 Gene

  • Protein details for CAPN10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HC96-CAN10_HUMAN
    Recommended name:
    Calpain-10
    Protein Accession:
    Q9HC96
    Secondary Accessions:
    • A8MVS7
    • Q4ZFV1
    • Q8NCD4
    • Q96IG4
    • Q96JI2
    • Q9HC89
    • Q9HC90
    • Q9HC91
    • Q9HC92
    • Q9HC93
    • Q9HC94
    • Q9HC95

    Protein attributes for CAPN10 Gene

    Size:
    672 amino acids
    Molecular mass:
    74952 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB47474.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for CAPN10 Gene

neXtProt entry for CAPN10 Gene

Post-translational modifications for CAPN10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CAPN10 Gene

Domains & Families for CAPN10 Gene

Gene Families for CAPN10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CAPN10 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HC96

UniProtKB/Swiss-Prot:

CAN10_HUMAN :
  • Belongs to the peptidase C2 family.
Family:
  • Belongs to the peptidase C2 family.
genes like me logo Genes that share domains with CAPN10: view

Function for CAPN10 Gene

Molecular function for CAPN10 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Broad endopeptidase specificity.
UniProtKB/Swiss-Prot Function:
Calcium-regulated non-lysosomal thiol-protease which catalyze limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. May play a role in insulin-stimulated glucose uptake.

Enzyme Numbers (IUBMB) for CAPN10 Gene

Phenotypes From GWAS Catalog for CAPN10 Gene

Gene Ontology (GO) - Molecular Function for CAPN10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding ISS --
GO:0004198 calcium-dependent cysteine-type endopeptidase activity IEA,IMP 15044459
GO:0008092 cytoskeletal protein binding ISS --
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with CAPN10: view
genes like me logo Genes that share phenotypes with CAPN10: view

Animal Models for CAPN10 Gene

MGI Knock Outs for CAPN10:

Animal Model Products

  • Taconic Biosciences Mouse Models for CAPN10

CRISPR Products

miRNA for CAPN10 Gene

miRTarBase miRNAs that target CAPN10

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CAPN10
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CAPN10 Gene

Localization for CAPN10 Gene

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 CAPN10 gene
Compartment Confidence
mitochondrion 5
cytosol 5
plasma membrane 4
nucleus 3
endoplasmic reticulum 2
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CAPN10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005739 mitochondrion IDA 16790502
GO:0005829 cytosol ISS --
GO:0005886 plasma membrane ISS --
genes like me logo Genes that share ontologies with CAPN10: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CAPN10 Gene

Pathways & Interactions for CAPN10 Gene

genes like me logo Genes that share pathways with CAPN10: view

Pathways by source for CAPN10 Gene

Interacting Proteins for CAPN10 Gene

Gene Ontology (GO) - Biological Process for CAPN10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IMP,IEA 15044459
GO:0006921 cellular component disassembly involved in execution phase of apoptosis IC --
GO:0031532 actin cytoskeleton reorganization ISS 12974673
GO:0032024 positive regulation of insulin secretion IMP 15471947
GO:0032388 positive regulation of intracellular transport ISS 12974673
genes like me logo Genes that share ontologies with CAPN10: view

No data available for SIGNOR curated interactions for CAPN10 Gene

Drugs & Compounds for CAPN10 Gene

(9) Drugs for CAPN10 Gene - From: PharmGKB, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Metformin Approved Pharma AMP-activated protein kinase (AMPK) activator 1849
Tacrolimus Approved, Investigational Pharma 1125
calcium Nutra 0
Acetyl-Calpastatin (184-210) (human) Pharma Calpain I/II inhibitor, Selective calpain inhibitor 0

(3) Additional Compounds for CAPN10 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
MG 132
133407-82-6

(2) Tocris Compounds for CAPN10 Gene

Compound Action Cas Number
Acetyl-Calpastatin (184-210) (human) Selective calpain inhibitor 123714-50-1
MG 132 Proteasome and calpain inhibitor. Inhibits NF-kappaB activation 133407-82-6
genes like me logo Genes that share compounds with CAPN10: view

Transcripts for CAPN10 Gene

Unigene Clusters for CAPN10 Gene

Calpain 10:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CAPN10
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CAPN10 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ·
SP1: - - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - - -
SP5: - - - - - - - -
SP6: - - - - - - - - -
SP7: -
SP8: - - -
SP9:
SP10:
SP11:
SP12:
SP13: - - - - - - - - - - - - - - - - - - - - - - -
SP14: - - - - - - - - - - - - - - - - - -
SP15:
SP16: -
SP17:

ExUns: 16c ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b · 21c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: - - -
SP10:
SP11: - -
SP12: -
SP13: - - -
SP14:
SP15:
SP16:
SP17:

Relevant External Links for CAPN10 Gene

GeneLoc Exon Structure for
CAPN10
ECgene alternative splicing isoforms for
CAPN10

Expression for CAPN10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CAPN10 Gene

Protein differential expression in normal tissues from HIPED for CAPN10 Gene

This gene is overexpressed in Serum (65.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CAPN10 Gene



Protein tissue co-expression partners for CAPN10 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CAPN10 Gene:

CAPN10

SOURCE GeneReport for Unigene cluster for CAPN10 Gene:

Hs.728234

mRNA Expression by UniProt/SwissProt for CAPN10 Gene:

Q9HC96-CAN10_HUMAN
Tissue specificity: Detected in primary skeletal muscle cells (at protein level). Ubiquitous.

Evidence on tissue expression from TISSUES for CAPN10 Gene

  • Nervous system(4.8)
  • Skin(4.5)
  • Lung(4)
  • Pancreas(3.4)
  • Intestine(2.6)
  • Bone(2.5)
  • Eye(2.3)
  • Blood(2.1)
  • Liver(2)
genes like me logo Genes that share expression patterns with CAPN10: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CAPN10 Gene

Orthologs for CAPN10 Gene

This gene was present in the common ancestor of animals.

Orthologs for CAPN10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CAPN10 33 34
  • 98.31 (n)
cow
(Bos Taurus)
Mammalia LOC789674 33
  • 85.03 (n)
CAPN10 34
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CAPN10 33 34
  • 84.74 (n)
rat
(Rattus norvegicus)
Mammalia Capn10 33
  • 82.56 (n)
mouse
(Mus musculus)
Mammalia Capn10 33 16 34
  • 82.41 (n)
oppossum
(Monodelphis domestica)
Mammalia CAPN10 34
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 72 (a)
OneToMany
-- 34
  • 66 (a)
OneToMany
chicken
(Gallus gallus)
Aves CAPN10 33
  • 65.55 (n)
lizard
(Anolis carolinensis)
Reptilia CAPN10 34
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia capn10 33
  • 56.05 (n)
zebrafish
(Danio rerio)
Actinopterygii capn10 33 34
  • 57.69 (n)
fruit fly
(Drosophila melanogaster)
Insecta CalpC 34
  • 22 (a)
OneToOne
Species where no ortholog for CAPN10 was found in the sources mined by GeneCards:
  • 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)
  • 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 CAPN10 Gene

ENSEMBL:
Gene Tree for CAPN10 (if available)
TreeFam:
Gene Tree for CAPN10 (if available)

Paralogs for CAPN10 Gene

Paralogs for CAPN10 Gene

(1) SIMAP similar genes for CAPN10 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CAPN10: view

Variants for CAPN10 Gene

Sequence variations from dbSNP and Humsavar for CAPN10 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_036049 A colorectal cancer sample
rs3792267 other 240,591,757(+) AAGGC(A/G)TTTGA intron-variant
rs1000192409 -- 240,596,646(+) ACCTG(C/T)TGCCA intron-variant
rs1000401527 -- 240,592,127(+) CAGCT(A/G)CTGCG reference, missense
rs1000432931 -- 240,586,873(+) ACCCC(G/T)AGGCA upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for CAPN10 Gene

Variant ID Type Subtype PubMed ID
esv2759119 CNV gain 17122850
nsv1001262 CNV gain 25217958
nsv470529 CNV loss 18288195
nsv834586 CNV loss 17160897
nsv955291 CNV deletion 24416366

Variation tolerance for CAPN10 Gene

Residual Variation Intolerance Score: 18.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.89; 48.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CAPN10 Gene

Human Gene Mutation Database (HGMD)
CAPN10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAPN10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAPN10 Gene

Disorders for CAPN10 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CAPN10 Gene - From: HGMD, OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diabetes mellitus, noninsulin-dependent 1
  • diabetes mellitus, non-insulin-dependent, 1
polycystic ovary syndrome
  • multicystic ovaries
diabetes mellitus, noninsulin-dependent
  • diabetes, type 2
muscular dystrophy, limb-girdle, type 2a
  • calpainopathy
gestational diabetes
  • gdm
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CAN10_HUMAN
  • Diabetes mellitus, non-insulin-dependent, 1 (NIDDM1) [MIM:601283]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the bodys own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269 PubMed:11017071, ECO:0000269 PubMed:16721485}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for CAPN10

Genetic Association Database (GAD)
CAPN10
Human Genome Epidemiology (HuGE) Navigator
CAPN10
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CAPN10
genes like me logo Genes that share disorders with CAPN10: view

No data available for Genatlas for CAPN10 Gene

Publications for CAPN10 Gene

  1. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. (PMID: 11017071) Horikawa Y … Bell GI (Nature genetics 2000) 2 3 4 22 45 60
  2. A novel 111/121 diplotype in the Calpain-10 gene is associated with type 2 diabetes. (PMID: 16721485) Kang ES … Lee HC (Journal of human genetics 2006) 3 4 22 45 60
  3. A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance. (PMID: 11018080) Baier LJ … Bogardus C (The Journal of clinical investigation 2000) 2 3 22 45 60
  4. Co-existence of risk and protective haplotypes of Calpain 10 gene to type 2 diabetes in the eastern Indian population. (PMID: 20368234) Adak S … Bhattacharyya M (Diabetes & vascular disease research 2010) 3 22 45 60
  5. Association of calpain-10 gene polymorphism and posttransplant diabetes mellitus in kidney transplant patients medicated with tacrolimus. (PMID: 19752882) Kurzawski M … Drozdzik M (The pharmacogenomics journal 2010) 3 22 45 60

Products for CAPN10 Gene

Sources for CAPN10 Gene

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