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3.4.22.B25: calpain 5

This is an abbreviated version!
For detailed information about calpain 5, go to the full flat file.

Word Map on EC 3.4.22.B25

Reaction

broad endopeptidase specificity =

Synonyms

calpain htra-3, calpain-5, CAPN5, htra-3, nCL-3

ECTree

     3 Hydrolases
         3.4 Acting on peptide bonds (peptidases)
             3.4.22 Cysteine endopeptidases
                3.4.22.B25 calpain 5

Disease

Disease on EC 3.4.22.B25 - calpain 5

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Blindness
Two Novel CAPN5 Variants Associated with Mild and Severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Phenotypes.
Breast Neoplasms
Calpain-5 gene expression in the mouse eye and brain.
Cardiovascular Diseases
Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels.
Cataract
Calpains and their multiple roles in diabetes mellitus.
Deaf-Blind Disorders
Early Onset Neovascular Inflammatory Vitreoretinopathy Due to a De Novo CAPN5 Mutation: Report of a Case.
Diabetes Mellitus
Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome.
Diabetes Mellitus, Type 2
Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome.
Eye Diseases
A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.
Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses.
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.
Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.
Glaucoma
Secondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy.
Hearing Loss
A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.
Early Onset Neovascular Inflammatory Vitreoretinopathy Due to a De Novo CAPN5 Mutation: Report of a Case.
Hepatitis C
Hepatitis C virus enters liver cells using the CD81 receptor complex proteins calpain-5 and CBLB.
Hypertension
Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome.
Leukemia
Calpain 5 is highly expressed in the central nervous system (CNS), carries dual nuclear localization signals, and is associated with nuclear promyelocytic leukemia protein bodies.
Lymphoma
Hepatitis C virus enters liver cells using the CD81 receptor complex proteins calpain-5 and CBLB.
Meningioma
First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation.
Metabolic Syndrome
Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels.
Characterization of mitochondrial calpain-5.
Neoplasms
Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses.
Calpain-5 gene expression in the mouse eye and brain.
Characterization of mitochondrial calpain-5.
First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation.
Neuroblastoma
Molecular cloning and characterization of rat and human calpain-5.
The C2 domain of calpain 5 contributes to enzyme activation and membrane localization.
Neurodegenerative Diseases
Characterization of mitochondrial calpain-5.
Neuroinflammatory Diseases
Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants.
Obesity
Calpains and their multiple roles in diabetes mellitus.
Interaction between Calpain 5, Peroxisome proliferator-activated receptor-gamma and Peroxisome proliferator-activated receptor-delta genes: a polygenic approach to obesity.
Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome.
Polycystic Ovary Syndrome
Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome.
Retinal Degeneration
A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.
Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina.
Phenotypic variance in Calpain-5 retinal degeneration.
Retinal Detachment
Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.
Retinal Diseases
Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses.
Molecular Surgery: Proteomics of a Rare Genetic Disease Gives Insight into Common Causes of Blindness.
Presence of calpain-5 in mitochondria.
Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants.
Retinal Dystrophies
Phenotypic variance in Calpain-5 retinal degeneration.
Retinal Neovascularization
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.
Phenotypic variance in Calpain-5 retinal degeneration.
Retinal Vasculitis
Retinal vasculitis.
Retinoblastoma
Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses.
Thyroid Cancer, Papillary
Absence of allelic imbalance involving EMSY, CAPN5, and PAK1 genes in papillary thyroid carcinoma.
Uveitis
A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.
CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model.
Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina.
Phenotypic variance in Calpain-5 retinal degeneration.
Secondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy.
Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.
Whole-Exome Sequencing of Patients with Posterior Segment Uveitis.
Vesicular Stomatitis
Hepatitis C virus enters liver cells using the CD81 receptor complex proteins calpain-5 and CBLB.