Gene: AKAP9

Alternate names for this Gene: AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO

Gene Summary: The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3.

Gene is located in Chromosome: 7

Location in Chromosome : 7q21.2

Description of this Gene: A-kinase anchoring protein 9

Type of Gene: protein-coding

rs149454736 in AKAP9 gene and Alzheimer's Disease PMID 29274321 2018 Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages.

rs10644111 in AKAP9 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

PMID 25751625 2015 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.

rs121908566 in AKAP9 gene and Long Qt Syndrome 11 PMID 18093912 2007 Mutation of an A-kinase-anchoring protein causes long-QT syndrome.