Gene: CDC42BPA

Alternate names for this Gene: MRCK|MRCKA|PK428

Gene Summary: The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is highly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also contains a Rac interactive binding (CRIB) domain, and has been shown to bind CDC42. It may function as a CDC42 downstream effector mediating CDC42 induced peripheral actin formation, and promoting cytoskeletal reorganization. Multiple alternatively spliced transcript variants have been described.

Gene is located in Chromosome: 1

Location in Chromosome : 1q42.13

Description of this Gene: CDC42 binding protein kinase alpha

Type of Gene: protein-coding

rs17528077 in CDC42BPA gene and Blood urea nitrogen measurement PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs10916082 in CDC42BPA gene and Diastolic blood pressure PMID 28135244 2017 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.

rs11806180 in CDC42BPA gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.