AKAP9 Chromosome 7
A-kinase anchoring protein 9
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What This Gene Does
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. [provided by RefSeq, Aug 2008]
Gene Info
Gene Group
"A-kinase anchoring proteins|Protein phosphatase 1 regulatory subunits"
Locus Type
gene with protein product
Location
7q21.2
Ensembl
ENSG00000127914
Associated Conditions (21)
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11
Cardiomyopathy
Wolff-Parkinson-White pattern
Ventricular fibrillation
AKAP9-related disorder
Thyroid cancer
nonmedullary
1
Congenital long QT syndrome
Brugada syndrome 1
Catecholaminergic polymorphic ventricular tachycardia
Cervical cancer
Colon adenocarcinoma
Malignant tumor of esophagus
Cardiac arrhythmia
Brugada syndrome
Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy
+1 more conditions
Key Variants
RS1016368660
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS1029311669
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS1040204302
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 11
Health Risk
RS1042630361
Conflicting classifications of pathogenicity
Cardiomyopathy, Long QT syndrome, Cardiovascular phenotype
Health Risk
RS1057521238
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS1157417207
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 11
Health Risk
RS1165716443
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
Health Risk
RS1188686549
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS121908566
Conflicting classifications of pathogenicity
Long QT syndrome 11, Long QT syndrome, Cardiovascular phenotype
Health Risk
RS1229169680
Conflicting classifications of pathogenicity
Cardiomyopathy, Long QT syndrome 11, Long QT syndrome
Health Risk
RS1235885918
Conflicting classifications of pathogenicity
Long QT syndrome, Long QT syndrome
Health Risk
RS1238314038
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
Health Risk
All Variants (279)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS755110736 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS755408339 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 11, Cardiovascular phenotype, Long QT syndrome |
| RS755453815 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS755797374 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome 11, Long QT syndrome |
| RS755931396 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS756131845 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS756486044 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS756905236 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS757123477 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS758236336 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Long QT syndrome 11, Long QT syndrome |
| RS759219564 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS759583976 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS759646439 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 11 |
| RS759694779 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 11 |
| RS761646754 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS761741274 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS761783446 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Long QT syndrome 11, Cardiovascular phenotype |
| RS761824694 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS761921630 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS762115704 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS762175660 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS762203528 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS762754861 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS762794527 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 11 |
| RS763089587 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS763275190 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS763444110 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS764164178 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS765144371 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS765553799 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS765976119 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS766108106 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS767204829 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS767245893 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS767298163 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS767966419 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS768026366 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS768097461 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS769085707 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS769098388 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS770443947 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS771419309 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 11, Long QT syndrome, Cardiovascular phenotype |
| RS771608420 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS772348877 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 11 |
| RS772669837 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 11 |
| RS773105182 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 11 |
| RS774013935 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS774423206 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS77447750 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS776190475 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 11 |