Property Summary

NCBI Gene PubMed Count 30
Grant Count 7
R01 Count 2
Funding $1,675,462
PubMed Score 47.33
PubTator Score 44.71

Knowledge Summary

Patent

No data available

Expression

Gene RIF (17)

PMID Text
25994508 CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation
25856303 A novel CAPN5 (c.750G>T, p.Lys250Asn) missense mutation causes uveitis and neovascular retinal detachment.
25216694 CAPN5 expression can be suppressed by shRNA-based RNA interference
24381307 autosomal dominant neovascular inflammatory vitreoretinopathy is due to CAPN5 gain-of-function rather than haploinsufficiency.
23055945 Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20200332 Observational study of gene-disease association. (HuGE Navigator)
19948975 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
18829447 Calpain5 was expressed in endometrial stromal and glandular cells throughout the menstrual cycle and in decidua, and its expression was decreased in both stromal and glandular cells from women with endometriosis compared with that of fertile controls.
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AA Sequence

MFSCVKPYEDQNYSALRRDCRRRKVLFEDPLFPATDDSLYYKGTPGPAVRWKRPKGICEDPRLFVDGISS      1 - 70
HDLHQGQVGNCWFVAACSSLASRESLWQKVIPDWKEQEWDPEKPNAYAGIFHFHFWRFGEWVDVVIDDRL     71 - 140
PTVNNQLIYCHSNSRNEFWCALVEKAYAKLAGCYQALDGGNTADALVDFTGGVSEPIDLTEGDFANDETK    141 - 210
RNQLFERMLKVHSRGGLISASIKAVTAADMEARLACGLVKGHAYAVTDVRKVRLGHGLLAFFKSEKLDMI    211 - 280
RLRNPWGEREWNGPWSDTSEEWQKVSKSEREKMGVTVQDDGEFWMTFEDVCRYFTDIIKCRVINTSHLSI    281 - 350
HKTWEEARLHGAWTLHEDPRQNRGGGCINHKDTFFQNPQYIFEVKKPEDEVLICIQQRPKRSTRREGKGE    351 - 420
NLAIGFDIYKVEENRQYRMHSLQHKAASSIYINSRSVFLRTDQPEGRYVIIPTTFEPGHTGEFLLRVFTD    421 - 490
VPSNCRELRLDEPPHTCWSSLCGYPQLVTQVHVLGAAGLKDSPTGANSYVIIKCEGDKVRSAVQKGTSTP    491 - 560
EYNVKGIFYRKKLSQPITVQVWNHRVLKDEFLGQVHLKADPDNLQALHTLHLRDRNSRQPSNLPGTVAVH    561 - 630
ILSSTSLMAV                                                                631 - 640
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Text Mined References (30)

PMID Year Title
25994508 2015 CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model.
25856303 2015 Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.
25216694 2014 CAPN5 gene silencing by short hairpin RNA interference.
25017104 2014 Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
24381307 2014 Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23055945 2012 Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.
21423176 2011 Analysis of the myosin-II-responsive focal adhesion proteome reveals a role for ?-Pix in negative regulation of focal adhesion maturation.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
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