calpain 15
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Diagnostic Grade (Green)
Anophthalmia or microphthalmia
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalStructural eye disease
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalBilateral congenital or childhood onset cataracts
oculogastrointestinal-neurodevelopmental syndrome
microphthalmia
coloboma
early-onset non-syndromic cataract
Posterior polar cataract
early-onset zonular cataract
Total congenital cataract
Isolated anophthalmia - microphthalmia
Cataract-microcornea syndrome
retinitis pigmentosa
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Calpain-15
Calcium-dependent cysteine protease that functions as a non-proteasomal, ubiquitin-directed protease regulating cell adhesion through cleavage of E-cadherin/CDH1. Binds to ubiquitinated proteins via its N-terminal, preferentially recognizing longer polyubiquitin chains including both 'Lys-48- and 'Lys-63'-linked chains. Recognizes the ubiquitinated E-cadherin-catenin complex and cleaves E-cadherin in a calcium- and ubiquitination-dependent manner resulting in lysosomal degradation of the resultant fragment (PubMed:41380969). Plays a critical role in eye, brain and cerebellar development (By similarity). In the developing brain, may regulate transcription factor abundance including PAX2 and PAX5 levels. Additional putative substrates include P-cadherin/CDH3, DCX and TUBB3 (By similarity)
CAPN15 · O75808
Mean pLDDT
70.6/ 100
Confident
1,086 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
