CAPN10: Calpain 10 Gene in Type 2 Diabetes and Metabolic Disorders
Comprehensive genomic and functional analysis of CAPN10, a calpain family member implicated in insulin secretion and glucose metabolism.
Gene Information Card
| Symbol | CAPN10 |
|---|---|
| Full Name | calpain 10 |
| Gene Type | protein coding |
| Chromosomal Location | 2q37.3 |
| NCBI Gene ID | 11132 ncbi.nlm.nih.gov/gene/11132 |
| Ensembl ID | ENSG00000162998 |
| UniProt ID | Q9HC96 |
| OMIM ID | 605286 |
| HGNC ID | 1477 |
| Aliases | CAPN10; CANP10; calpain-10; NIDDM1 |
Description
CAPN10 (calpain 10) is a member of the calpain family of intracellular cysteine proteases. It is encoded by a gene located on chromosome 2q37.3 and is widely expressed in tissues including skeletal muscle, liver, and pancreatic islets. CAPN10 has been extensively studied for its association with type 2 diabetes (T2D) and related metabolic traits. Variants in CAPN10, particularly UCSNP-43 (rs3792267), UCSNP-44 (rs2975760), and UCSNP-19 (rs3842570), have been linked to altered insulin secretion, insulin resistance, and glucose homeostasis. The protein functions in calcium-dependent proteolysis, modulating cellular processes such as signal transduction, apoptosis, and cytoskeletal remodeling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 Diabetes | Variants in CAPN10 (e.g., UCSNP-43, UCSNP-44, UCSNP-19) are associated with impaired insulin secretion and increased T2D risk. | Multiple population-based studies; OMIM 605286 |
| Polycystic Ovary Syndrome (PCOS) | CAPN10 polymorphisms may contribute to insulin resistance and metabolic dysfunction in PCOS. | Case-control studies; ClinVar |
| Metabolic Syndrome | CAPN10 variants linked to dyslipidemia, obesity, and hypertension components. | Epidemiological studies; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 8.2 | Medium |
| Liver | 6.5 | Medium |
| Pancreas | 5.1 | Low |
| Adipose Tissue | 4.8 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 7.3 | Cervical cancer cell line |
| HepG2 | 6.8 | Hepatocellular carcinoma cell line |
| MCF7 | 5.2 | Breast cancer cell line |
| K562 | 4.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| UCSNP-43 (rs3792267) | SNP (G/A) | 0.20-0.30 (global) | Intronic variant; associated with altered CAPN10 expression and T2D risk |
| UCSNP-44 (rs2975760) | SNP (C/T) | 0.15-0.25 (global) | Intronic variant; linked to insulin secretion defects |
| UCSNP-19 (rs3842570) | Insertion/Deletion (2R/3R) | 0.35-0.45 (global) | Repeat polymorphism; affects splicing and protein levels |
Mutation functional classification
Loss of Function (LOF)
Reduced CAPN10 expression or activity due to certain haplotypes (e.g., UCSNP-43/44/19 combinations) may impair insulin secretion and glucose uptake.
Gain of Function (GOF)
Not clearly established; no known gain-of-function mutations reported.
Dominant Negative (DN)
Not documented for CAPN10.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Calpain-mediated proteolysis (Reactome: R-HSA-5625740)
• Insulin signaling pathway (KEGG: hsa04910)
• Type 2 diabetes mellitus (KEGG: hsa04930)
Protein Summary
Calpain 10 is a 672-amino acid protein belonging to the calpain family of calcium-activated cysteine proteases. It contains a catalytic domain with a cysteine active site and a calmodulin-like domain for calcium binding. CAPN10 is ubiquitously expressed, with highest levels in skeletal muscle, liver, and pancreas. It plays a role in intracellular signaling, cytoskeletal remodeling, and glucose metabolism. Dysregulation of CAPN10 due to genetic variants contributes to impaired insulin secretion and insulin resistance, linking it to type 2 diabetes and metabolic syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAPN10 Knockout HEK293 Cell Line | EDJ-KQ7299 | Human | 11132 | Details Get a Quote |
| CAPN10 Knockout A-549 Cell Line | EDJ-KQ32343 | Human | 11132 | Details Get a Quote |
| CAPN10 Knockout HCT 116 Cell Line | EDJ-KQ32344 | Human | 11132 | Details Get a Quote |
| CAPN10 Knockout HeLa Cell Line | EDJ-KQ32345 | Human | 11132 | Details Get a Quote |
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