Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Bethlem Myopathy 1A | | ISO | CAPN10 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar | PMID:26004199 and PMID:28492532 | chromosome 2q37 deletion syndrome | | ISO | CAPN10 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome | ClinVar | PMID:25741868 | D-2-hydroxyglutaric aciduria 1 | | ISO | CAPN10 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 | ClinVar | PMID:16081310 more ... | genetic disease | | ISO | CAPN10 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | hereditary spastic paraplegia 30 | | ISO | CAPN10 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 | ClinVar | PMID:16081310 more ... | intellectual disability | | ISO | CAPN10 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | polycystic ovary syndrome | | ISO | CAPN10 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Polycystic ovary syndrome and susceptibility to | ClinVar | PMID:11017071 more ... | primary hyperoxaluria type 1 | | ISO | CAPN10 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary hyperoxaluria and type I | ClinVar | PMID:22821680 | Type 2 Diabetes Mellitus 1 | | ISO | CAPN10 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11017071 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance. | Baier LJ, etal., J Clin Invest. 2000 Oct;106(7):R69-73. |
| 2. | Chronic high glucose downregulates mitochondrial calpain 10 and contributes to renal cell death and diabetes-induced renal injury. | Covington MD and Schnellmann RG, Kidney Int. 2012 Feb;81(4):391-400. doi: 10.1038/ki.2011.356. Epub 2011 Oct 19. |
| 3. | Calpain 10 SNP-44 gene polymorphism affects susceptibility to type 2 diabetes mellitus and diabetic-related conditions. | Demirci H, etal., Genet Test. 2008 Jun;12(2):305-9. doi: 10.1089/gte.2007.0118. |
| 4. | Association of Diabetes Susceptibility Gene Calpain-10 with Pancreatic Cancer Among Smokers. | Fong PY, etal., J Gastrointest Cancer. 2010 Feb 23. |
| 5. | Haplotype combination of Calpain-10 gene polymorphism is associated with metabolic syndrome in type 2 diabetes. | Kang ES, etal., Diabetes Res Clin Pract. 2006 Sep;73(3):268-75. Epub 2006 Mar 20. |
| 6. | A novel 111/121 diplotype in the Calpain-10 gene is associated with type 2 diabetes. | Kang ES, etal., J Hum Genet. 2006;51(7):629-33. Epub 2006 May 24. |
| 7. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 8. | Calpain-10 expression is elevated in pancreatic islets from patients with type 2 diabetes. | Ling C, etal., PLoS One. 2009 Aug 18;4(8):e6558. |
| 9. | Electronic Transfer of Homolog Data | MGD and Homologene mouse data transfer |
| 10. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 11. | Capn10, a candidate gene responsible for type 2 diabetes mellitus in the OLETF rat. | Muramatsu Y, etal., IUBMB Life 2003 Sep;55(9):533-7. |
| 12. | Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. | Okazaki N, etal., DNA Res 2003 Aug 31;10(4):167-80. |
| 13. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
| 14. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 15. | Common polymorphisms of calpain-10 are associated with abdominal obesity in subjects at high risk of type 2 diabetes. | Pihlajamaki J, etal., Diabetologia. 2006 Jul;49(7):1560-6. Epub 2006 May 12. |
| 16. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 17. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 18. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 19. | Calpain 10 as a predictive gene for type 2 diabetes: evidence from a novel screening system using white blood cells of Otsuka Long-Evans Tokushima Fatty (OLETF) rats. | Sato Y, etal., Biol Pharm Bull. 2003 Dec;26(12):1765-8. |
| 20. | Loss of calpain 10 causes mitochondrial dysfunction during chronic hyperglycemia. | Smith MA, etal., Arch Biochem Biophys. 2012 Jul 15;523(2):161-8. doi: 10.1016/j.abb.2012.04.020. Epub 2012 May 1. |
| 21. | Calpain-10 variants and haplotypes are associated with polycystic ovary syndrome in Caucasians. | Vollmert C, etal., Am J Physiol Endocrinol Metab. 2007 Mar;292(3):E836-44. Epub 2006 Nov 14. |
| 22. | Association of CAPN10 gene with insulin sensitivity, glucose tolerance and renal function in essential hypertensive patients. | Zhou X, etal., Clin Chim Acta. 2010 Aug 5;411(15-16):1126-31. doi: 10.1016/j.cca.2010.04.012. Epub 2010 Apr 18. |
Additional References at PubMed
| PMID:8889548 | PMID:10349636 | PMID:10403824 | PMID:10964513 | PMID:11017071 | PMID:11042159 | PMID:11076861 | PMID:11812828 | PMID:12477932 | PMID:12634108 | PMID:12974673 | PMID:14981075 |
| PMID:15044459 | PMID:15489334 | PMID:15561968 | PMID:15782199 | PMID:16141072 | PMID:16141073 | PMID:16783635 | PMID:17339028 | PMID:18054326 | PMID:19144693 | PMID:20388922 | PMID:21267068 |
| PMID:21677750 | PMID:21873635 | PMID:30425305 | PMID:32325033 | PMID:32698137 | PMID:38514708 |
Genomics
Comparative Map Data
| Capn10 (Mus musculus - house mouse) |
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| CAPN10 (Homo sapiens - human) |
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| Capn10 (Rattus norvegicus - Norway rat) |
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| Capn10 (Chinchilla lanigera - long-tailed chinchilla) |
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| CAPN10 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| CAPN10 (Canis lupus familiaris - dog) |
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| Capn10 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| CAPN10 (Sus scrofa - pig) |
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| CAPN10 (Chlorocebus sabaeus - green monkey) |
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| Capn10 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Capn10
416 total Variants 
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