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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CAPN10
calpain 10
Chromosome 2 Β· 2q37.3
NCBI Gene: 11132Ensembl: ENSG00000142330.21HGNC: HGNC:1477UniProt: Q9HC96
175PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of D-glucose import across plasma membranecalcium-dependent cysteine-type endopeptidase activityprotein bindingproteolysisgenetic disorderprostate carcinomatype 2 diabetes mellitusParkinson disease
✦AI Summary

CAPN10 (calpain 10) is a calcium-regulated cysteine protease involved in glucose metabolism and insulin signaling. The enzyme catalyzes limited proteolysis of substrates mediating cytoskeletal remodeling and signal transduction, playing a role in insulin-stimulated glucose uptake and insulin secretion 1. CAPN10 appears linked to glucose metabolism, insulin secretion, and action pathways through its protease activity in multiple tissues 1. Clinically, CAPN10 polymorphisms are strongly associated with type 2 diabetes mellitus (T2DM) susceptibility across multiple populations. The SNP43 G>A variant significantly increases T2DM risk in Asian populations, particularly Chinese cohorts, under multiple genetic models 2. Additionally, SNP19 (rs3792267) variants show independent association with T2DM in Indian populations 3, and CAPN10 variants associate with gestational diabetes mellitus, especially SNP63 and SNP44 45. The SNP19 genotype also correlates with excess weight in young people, even with active lifestyles 6. These genetic associations support CAPN10's established position as a T2DM susceptibility gene identified through positional cloning 1. CAPN10 represents a potential therapeutic target for diabetes management, with emerging interest in genetic editing approaches to modulate its function 7.

Sources cited
1
CAPN10 linked to glucose metabolism, insulin secretion and action; identified as NIDDM susceptibility gene through positional cloning
PMID: 24630865
2
CAPN10 SNP43 G>A significantly associated with T2DM susceptibility in Asian populations, especially Chinese
PMID: 25382134
3
CAPN10 SNP63 and SNP44 associated with gestational diabetes mellitus risk
PMID: 27324783
4
CAPN10 polymorphisms (rs290487, rs2975760) associated with gestational diabetes mellitus incidence in different populations
PMID: 38166877
5
CAPN10 rs3792267 SNP independently associated with T2DM in Indian population
PMID: 24612564
6
CAPN10 SNP19 genotype I/I associated with excess weight independent of lifestyle
PMID: 25504243
7
CAPN10 among established genes influencing blood insulin and glucose levels; potential target for genetic editing in diabetes
PMID: 36454469
Disease Associationsβ“˜21
genetic disorderOpen Targets
0.42Moderate
prostate carcinomaOpen Targets
0.32Weak
type 2 diabetes mellitusOpen Targets
0.32Weak
Parkinson diseaseOpen Targets
0.09Suggestive
polycystic ovary syndromeOpen Targets
0.09Suggestive
bipolar disorderOpen Targets
0.07Suggestive
obstructive sleep apneaOpen Targets
0.06Suggestive
ulcerative colitisOpen Targets
0.06Suggestive
gestational diabetesOpen Targets
0.05Suggestive
inflammatory bowel diseaseOpen Targets
0.05Suggestive
diabetes mellitusOpen Targets
0.05Suggestive
AcheiropodiaOpen Targets
0.04Suggestive
Acromesomelic dysplasia, Grebe typeOpen Targets
0.04Suggestive
acheiropodyOpen Targets
0.04Suggestive
acromesomelic dysplasia 2AOpen Targets
0.04Suggestive
acromesomelic dysplasia 2C, Hunter-Thompson typeOpen Targets
0.04Suggestive
Acromesomelic dysplasia, Hunter-Thomson typeOpen Targets
0.04Suggestive
Absent tibia - polydactylyOpen Targets
0.03Suggestive
Hypoplastic tibiae - postaxial polydactylyOpen Targets
0.03Suggestive
tibia, hypoplasia or aplasia of, with polydactylyOpen Targets
0.03Suggestive
Type 2 diabetes mellitus 1UniProt
Pathogenic Variants4
NM_023083.4(CAPN10):c.905G>A (p.Trp302Ter)Likely pathogenic
Diabetes mellitus, noninsulin-dependent, 1
β˜…β˜†β˜†β˜†2025β†’ Residue 302
NM_023083.4(CAPN10):c.1989+1G>APathogenic
CAPN10-related disorder
β˜…β˜†β˜†β˜†2023
NM_023083.4(CAPN10):c.1070dup (p.Asn357fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 357
NM_023083.4(CAPN10):c.837_858dup (p.Ala287fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2019β†’ Residue 287
View on ClinVar β†—
Related Genes
RNPEPL1Protein interaction89%GPR35Protein interaction84%CAPNS1Protein interaction82%RNPEPProtein interaction76%KCNJ11Protein interaction75%CASTProtein interaction75%
Tissue Expression6 tissues
Ovary
100%
Lung
89%
Liver
77%
Bone Marrow
75%
Heart
59%
Brain
22%
Gene Interaction Network
Click a node to explore
CAPN10RNPEPL1GPR35CAPNS1RNPEPKCNJ11CAST
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9HC96
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.12LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.92 [0.76–1.12]
RankingsWhere CAPN10 stands among ~20K protein-coding genes
  • #2,496of 20,598
    Most Researched175 Β· top quartile
  • #3,705of 5,498
    Most Pathogenic Variants4
  • #11,550of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedCAPN10
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Correlation between TCF7L2 and CAPN10 gene polymorphisms and gestational diabetes mellitus in different geographical regions: a meta-analysis.
PMID: 38166877
BMC Pregnancy Childbirth Β· 2024
1.00
2
CAPN10 SNP43 G>A gene polymorphism and type 2 diabetes mellitus in the Asian population: a meta-analysis of 9353 participants.
PMID: 25382134
Endocr J Β· 2015
0.90
3
Meta-analysis of the association between four CAPN10 gene variants and gestational diabetes mellitus.
PMID: 27324783
Arch Gynecol Obstet Β· 2016
0.80
4
Association between CAPN10 UCSNP-43 gene polymorphism and polycystic ovary syndrome in Chilean women.
PMID: 18722363
Clin Chim Acta Β· 2008
0.72
5
Large-scale rare variant burden testing in Parkinson's disease.
PMID: 37348876
Brain Β· 2023
0.70