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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CAPN5
calpain 5
Chromosome 11 Β· 11q13.5
NCBI Gene: 726Ensembl: ENSG00000149260.18HGNC: HGNC:1482UniProt: A0A140VKH4
56PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingfocal adhesioncell surfaceextracellular exosomeproliferative vitreoretinopathygenetic disorderRetinal dystrophysevere early-childhood-onset retinal dystrophy
✦AI Summary

CAPN5 encodes calpain-5, a calcium-dependent cysteine protease with distinct subcellular localizations and functions. The protein localizes to photoreceptor synapses in the outer plexiform layer and mitochondria, where it undergoes autoproteolysis at low calcium concentrations and becomes activated during endoplasmic reticulum stress 1 2. CAPN5 appears to regulate synaptic proteins including DLGAP4, IQSEC1, and MPDZ, as well as neurodegeneration-related proteins through limited proteolysis 3. The enzyme shows moderate retinal expression and strong expression during zebrafish CNS development, with increased expression during photoreceptor degeneration and regeneration 4. Pathogenic mutations in CAPN5 cause autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV), a progressive autoimmune eye disease characterized by retinal vasculitis, macular edema, and tractional membranes 5 6. These mutations lead to dysfunction of innate and adaptive immune systems, contributing to the inflammatory phenotype 7. The clinical spectrum varies significantly among patients, ranging from typical neovascular inflammation to atypical presentations with macular holes and retinitis pigmentosa-like features 6. Understanding CAPN5's substrate repertoire and mitochondrial activation may inform therapeutic approaches for ADNIV and related neurodegenerative conditions.

Sources cited
1
CAPN5 localizes to photoreceptor synapses and mitochondria in retinal tissue
PMID: 27152965
2
Mitochondrial CAPN5 is activated at low calcium concentrations and during ER stress
PMID: 33607190
3
CAPN5 cleaves synaptic proteins DLGAP4, IQSEC1, MPDZ and neurodegeneration-related proteins
PMID: 40650235
4
CAPN5 expression increases during photoreceptor degeneration and regeneration in zebrafish
PMID: 30029251
5
CAPN5 mutations cause autosomal dominant neovascular inflammatory vitreoretinopathy
PMID: 37782277
6
Clinical spectrum of CAPN5-related disease includes atypical presentations with macular holes
PMID: 37668859
7
CAPN5 mutations lead to dysfunction of innate and adaptive immune systems
PMID: 40157547
Disease Associationsβ“˜21
proliferative vitreoretinopathyOpen Targets
0.67Moderate
genetic disorderOpen Targets
0.42Moderate
Retinal dystrophyOpen Targets
0.19Weak
occult macular dystrophyOpen Targets
0.12Weak
severe early-childhood-onset retinal dystrophyOpen Targets
0.12Weak
Stargardt diseaseOpen Targets
0.12Weak
congenital lethal erythrodermaOpen Targets
0.03Suggestive
spondylolisthesisOpen Targets
0.03Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
esophageal squamous cell carcinomaOpen Targets
0.03Suggestive
acquired thrombocytopeniaOpen Targets
0.03Suggestive
hepatitis C virus infectionOpen Targets
0.02Suggestive
emphysemaOpen Targets
0.02Suggestive
obesityOpen Targets
0.02Suggestive
polycystic ovary syndromeOpen Targets
0.02Suggestive
neurodegenerative diseaseOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
uveitisOpen Targets
0.02Suggestive
Vitreoretinopathy, neovascular inflammatoryUniProt
Pathogenic Variants4
NM_004055.5(CAPN5):c.728G>T (p.Arg243Leu)Pathogenic
Proliferative vitreoretinopathy|not provided|Autosomal dominant neovascular inflammatory vitreoretinopathy
β˜…β˜…β˜†β˜†2025β†’ Residue 243
NM_004055.5(CAPN5):c.865C>T (p.Arg289Trp)Pathogenic
not provided|Proliferative vitreoretinopathy|Inborn genetic diseases|CAPN5-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 289
NM_004055.5(CAPN5):c.731T>C (p.Leu244Pro)Pathogenic
Proliferative vitreoretinopathy|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 244
NM_004055.5(CAPN5):c.750G>C (p.Lys250Asn)Pathogenic
Proliferative vitreoretinopathy
β˜†β˜†β˜†β˜†2020β†’ Residue 250
View on ClinVar β†—
Related Genes
PGA4Shared pathway100%PGA3Shared pathway100%CAPN14Shared pathway100%CTRB2Shared pathway100%CAPN8Shared pathway100%PRSS48Shared pathway100%
Tissue Expression6 tissues
Liver
100%
Ovary
24%
Bone Marrow
14%
Brain
12%
Heart
9%
Lung
7%
Gene Interaction Network
Click a node to explore
CAPN5PGA4PGA3CAPN14CTRB2CAPN8PRSS48
PROTEIN STRUCTURE
Preparing viewer…
PDB6P3Q Β· 2.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.93LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.74 [0.59–0.93]
RankingsWhere CAPN5 stands among ~20K protein-coding genes
  • #8,044of 20,598
    Most Researched56
  • #3,782of 5,498
    Most Pathogenic Variants4
  • #8,560of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedCAPN5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Retinal vasculitis.
PMID: 26945335
Curr Opin Rheumatol Β· 2016
1.00
2
Autosomal dominant neovascular inflammatory vitreoretinopathy with CAPN5 c.731T > C gene mutation; clinical management of a family cohort and review of the literature.
PMID: 37782277
Ophthalmic Genet Β· 2023
0.90
3
Inherited retinal disease-associated uveitis.
PMID: 40157547
Surv Ophthalmol Β· 2025
0.80
4
The Identification of Proteolytic Substrates of Calpain-5 with N-Terminomics.
PMID: 40650235
Int J Mol Sci Β· 2025
0.70
5
Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses.
PMID: 27152965
Invest Ophthalmol Vis Sci Β· 2016
0.60