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Literature summary for 3.4.22.B35 extracted from

  • Zha, C.; Farah, C.A.; Holt, R.J.; Ceroni, F.; Al-Abdi, L.; Thuriot, F.; Khan, A.O.; Helaby, R.; Levesque, S.; Alkuraya, F.S.; Kraus, A.; Ragge, N.K.; Sossin, W.S.
    Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits (2020), Hum. Mol. Genet., 29, 3054-3063.
    View publication on PubMed
Search for more literature for 3.4.22.B35

Protein Variants

Protein Variants Comment Organism
G969S naturally occurring mutation, the patient shows unilateral microphthalmia, bilateral coloboma, and unilatera, as well as laryngeal cleft, dysphonia, hirsute, and sacral dimple Homo sapiens
additional information identification and analysis of gene CAPN15 mutations involved in eye disorders, genotyping, overview. Generation of Capn15 knockout model mice that exhibit similar severe developmental eye defects, including anophthalmia, microphthalmia and cataract, and diminished growth compared to human mutant variants. Capn15(-/-) mice have anophthalmia, microphthalmia, and cataract Homo sapiens
R1028K naturally occurring mutation, the patient shows bilateral myopia, and unilateral coloboma Homo sapiens
S613L naturally occurring mutation, the patients show uni- or bilateral coloboma, unilateral ptosis, a short stature, global delay, microcephaly, deafness, facial dysmorphism, imperforate anus, unilateral simple ear, and prominent columella, or autism spectrum disorder Homo sapiens
S720F/R800W naturally occurring mutation, the patient shows bilateral microphthalmia, iridio-corneal adhesion, cognitive delay, and autism Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
intracellular
-
 Homo sapiens 5622
-

Organism

Organism UniProt Comment Textmining
Homo sapiens O75808
-
-

Source Tissue

Source Tissue Comment Organism Textmining
brain Capn15 expression occurs throughout the brain and central nervous system, strongest during early development, and decreasing postnatally Homo sapiens
-
central nervous system
-
 Homo sapiens
-
eye
-
 Homo sapiens
-
additional information Capn15 is highly expressed in the brain and eye Homo sapiens
-

Synonyms

Synonyms Comment Organism
CAPN15
-
 Homo sapiens

General Information

General Information Comment Organism
evolution calpain 15 (CAPN15) is an intracellular cysteine protease belonging to the non-classical small optic lobe (SOL) family of calpains, an important class of developmental proteins Homo sapiens
malfunction biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits. Five individuals with microphthalmia and/or coloboma from four independent families carry homozygous or compound heterozygous predicted damaging variants in gene CAPN15. Several individuals have additional phenotypes including growth deficits, developmental delay and hearing loss. Critical role of CAPN15 in vertebrate developmental eye disorders, phenotypes, detailed overview Homo sapiens