Disease relevance of CAPN5

• In addition, we identified several CAPN5 haplotypes associated with phenotypic differences observed between PCOS patients, such as the presence of obesity (P = 0.02), cardiovascular complications (P = 0.02), familial antecedents of obesity (P = 0.003) and of hypertension (P = 0.007) and type 2 diabetes mellitus aggregation (P = 0.04) [1].
• Western blot analysis on human neuroblastoma SH-SY5Y cells demonstrated calcium-dependent processing of calpain-5, despite the absence of calmodulin-like domain [2].

High impact information on CAPN5

• CAPN5 is localized on human chromosome 11, closely linked to the mu-calpain gene CAPN1 [3].
• Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome [1].
• However, in human brain regions calpain-5 was strongly expressed in hypothalamus, thalamus, cerebellum, and frontal lobe [2].
• The nucleotide sequence is 87% and 93% identical with human and mouse calpain-5, respectively [2].
• The C. elegans calpain-5 homologue tra-3 is reported to be essential for necrotic neuronal cell death [2].

Biological context of CAPN5

• Different CAPN5 haplotypes were also associated with diastolic blood pressure (DBP) (0.0005 < or = p < or = 0.006) and total cholesterol levels (0.001 < or = p < or = 0.029) [4].
• Genotypes at the four polymorphic loci in CAPN5 gene were detected by polymerase chain reaction (PCR) [4].
• Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels [4].
• Radiation hybrid mapping localized the htra-3 gene to chromosome 11q14 (2.53cR apart from WI-3895) [5].

Anatomical context of CAPN5

• Western blot analysis demonstrated that the approximately 73-kDa htra-3 protein was transiently expressed in COS-7 cells [5].

Other interactions of CAPN5

• The calpain 5 gene (CAPN5) encodes a protein homologue of CAPN10 [4].

Analytical, diagnostic and therapeutic context of CAPN5

• RT-PCR analysis revealed strong expression of calpain-5 in rat lungs, kidneys, and brain while week expression in heart, whereas in rat brain regions it is ubiquitously expressed [2].
• Molecular cloning and characterization of rat and human calpain-5 [2].

References