Gene: CPNE5

Alternate names for this Gene: COPN5|CPN5

Gene Summary: Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. More variants may exist, but their full-length natures could not be determined.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.2

Description of this Gene: copine 5

Type of Gene: protein-coding

rs72856431 in CPNE5 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs9470398 in CPNE5 gene and Heart failure PMID 31113495 2019 Genetics of heart rate in heart failure patients (GenHRate).

rs9470398 in CPNE5 gene and Reduced ejection fraction PMID 31113495 2019 Genetics of heart rate in heart failure patients (GenHRate).

rs236373 in CPNE5 gene and heart rate PMID 23583979 2013 Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.

PMID 31113495 2019 Genetics of heart rate in heart failure patients (GenHRate).