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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.
Eye Diseases
Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses.
Eye Diseases
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.
Eye Diseases
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.
Hearing Loss
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.
Metabolic Syndrome
Characterization of mitochondrial calpain-5.
Neoplasms
Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses.
Neoplasms
Calpain-5 gene expression in the mouse eye and brain.
Neoplasms
Characterization of mitochondrial calpain-5.
Neoplasms
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.
Neuroblastoma
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.
Obesity
Interaction between Calpain 5, Peroxisome proliferator-activated receptor-gamma and Peroxisome proliferator-activated receptor-delta genes: a polygenic approach to obesity.
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.
Retinal Degeneration
Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina.
Retinal Degeneration
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.
Retinal Diseases
Molecular Surgery: Proteomics of a Rare Genetic Disease Gives Insight into Common Causes of Blindness.
Retinal Diseases
Presence of calpain-5 in mitochondria.
Retinal Diseases
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.
Retinal Neovascularization
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.
Uveitis
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.
Uveitis
CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model.
Uveitis
Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina.
Uveitis
Phenotypic variance in Calpain-5 retinal degeneration.
Uveitis
Secondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy.
Uveitis
Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.
Uveitis
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.
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Strausberg R.L.; Feingold E.A.; Grouse L.H.; Derge J.G.; et al.
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
Proc. Natl. Acad. Sci. USA
99
16899-16903
2002
Homo sapiens (O15484), Mus musculus (O08688)
brenda
Matena, K.; Boehm, T.; Dear, N.
Genomic organization of mouse Capn5 and Capn6 genes confirms that they are a distinct calpain subfamily
Genomics
48
117-120
1998
Homo sapiens (O15484), Homo sapiens, Mus musculus (O08688), Mus musculus
brenda
Mugita, N.; Kimura, Y.; Ogawa, M.; Saya, H.; Nakao, M.
Identification of a novel, tissue-specific calpain htra-3; a human homologue of the Caenorhabditis elegans sex determination gene
Biochem. Biophys. Res. Commun.
239
845-850
1997
Homo sapiens (O15484), Homo sapiens
brenda
Waghray, A.; Wang, D.S.; McKinsey, D.; Hayes, R.L.; Wang, K.K.
Molecular cloning and characterization of rat and human calpain-5
Biochem. Biophys. Res. Commun.
324
46-51
2004
Homo sapiens (O15484), Homo sapiens, Rattus norvegicus (Q8R4C0)
brenda
Gonzalez, A.; Saez, M.E.; Aragon, M.J.; Galan, J.J.; Vettori, P.; Molina, L.; Rubio, C.; Real, L.M.; Ruiz, A.; Ramirez-Lorca, R.
Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome
Hum. Reprod.
21
943-951
2006
Homo sapiens (O15484), Homo sapiens
brenda
Saez Maria , S.M.; Martinez-Larrad Maria , M.M.; Ramirez-Lorca Repos, R.R.; Gonzalez-Sanchez Jose , G.J.; Zabena Carin, Z.C.; Martinez-Calatrava Maria , M.M.; Gonzalez Alejandr, G.A.; Moron Francisco , M.F.; Ruiz Agusti, R.A.; Serrano-Rios Manue, S.M.
Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels
BMC Med. Genet.
8
1-1
2007
Homo sapiens
brenda
Singh, R.; Brewer, M.K.; Mashburn, C.B.; Lou, D.; Bondada, V.; Graham, B.; Geddes, J.W.
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
J. Biol. Chem.
289
19383-19394
2014
Homo sapiens (O15484), Mus musculus (O08688), Mus musculus C57/BL6J (O08688), Rattus norvegicus (Q8R4C0), Rattus norvegicus Sprague-Dawley (Q8R4C0)
brenda
Bruening, J.; Lasswitz, L.; Banse, P.; Kahl, S.; Marinach, C.; Vondran, F.; Kaderali, L.; Silvie, O.; Pietschmann, T.; Meissner, F.; Gerold, G.
Hepatitis C virus enters liver cells using the CD81 receptor complex proteins calpain-5 and CBLB
PLoS Pathog.
14
e1007111
2018
Homo sapiens (O15484), Homo sapiens
brenda