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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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AKAP10
A-kinase anchoring protein 10
Chromosome 17 · 17p11.2
NCBI Gene: 11216Ensembl: ENSG00000108599.15HGNC: HGNC:368UniProt: A0A0S2Z4Z7
64PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein-containing complexcytosolprotein kinase A bindingneurodegenerative diseaseAlzheimer diseaseFamilial progressive cardiac conduction defectschizophrenia
✦AI Summary

AKAP10 is a mitochondrial and plasma membrane-anchoring protein that binds protein kinase A (PKA) regulatory subunits to facilitate localized PKA signaling. Its primary function involves anchoring PKA to mitochondria, where it phosphorylates and inactivates pro-apoptotic proteins like BAD [UniProt summary]. AKAP10 also regulates heme biosynthesis during erythropoiesis by directing PKA-mediated phosphorylation of ferrochelatase at the outer mitochondrial membrane 1. Clinically, AKAP10 polymorphisms significantly impact cardiovascular function. The common 646V variant (40% allele frequency) associates with increased basal heart rate and decreased heart rate variability—markers of reduced cholinergic sensitivity that predict sudden cardiac death risk 2. In healthy populations, the Val allele predicts higher resting heart rate and diminished heart rate variability 3. AKAP10 gene disruptions cause cardiac arrhythmias and premature death in mice 2, while specific polymorphisms are associated with reduced preterm birth risk in Malay populations 4 and elevated blood pressure in newborns 5. In oncology, elevated AKAP10 expression correlates with colorectal cancer progression, associating with tumor invasion depth, lymph node metastasis, advanced stage, and poor differentiation 67. AKAP10 also emerges as a dysregulated gene in primary sclerosing cholangitis, potentially mediating immune-driven disease mechanisms 8.

Sources cited
1
AKAP10 disruption increases cardiac cholinergic response; common 646V variant associates with increased heart rate and decreased heart rate variability, predicting sudden cardiac death risk
PMID: 17485678
2
AKAP10 regulates heme biosynthesis during erythropoiesis by anchoring PKA to mitochondria for ferrochelatase phosphorylation
PMID: 28553927
3
AKAP10 Val allele predicts greater resting heart rate and diminished heart rate variability in healthy populations
PMID: 19496216
4
AKAP10 polymorphisms (rs169412, rs119672) associate with reduced preterm birth risk in Malay populations
PMID: 26110499
5
1936G AKAP10 allele associates with elevated diastolic and mean blood pressure in newborns
PMID: 22817328
6
Elevated AKAP10 expression in colorectal cancer correlates with tumor invasion depth, lymph node metastasis, advanced stage, and poor prognosis
PMID: 25213315
7
AKAP10 positive expression rate significantly higher in colorectal cancer than adenoma/normal mucosa; correlates with invasion, metastasis, and stage
PMID: 23468363
8
AKAP10 identified as dysregulated hub gene in primary sclerosing cholangitis, associated with immune dysfunction and mitochondrial dysfunction
PMID: 39496776
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
Alzheimer diseaseOpen Targets
0.30Weak
Familial progressive cardiac conduction defectOpen Targets
0.14Weak
schizophreniaOpen Targets
0.13Weak
sudden infant death syndromeOpen Targets
0.12Weak
Romano-Ward syndromeOpen Targets
0.09Suggestive
familial atrial fibrillationOpen Targets
0.08Suggestive
Familial short QT syndromeOpen Targets
0.08Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.08Suggestive
Brugada syndromeOpen Targets
0.08Suggestive
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
hypertrophic cardiomyopathyOpen Targets
0.08Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.08Suggestive
sudden cardiac arrestOpen Targets
0.08Suggestive
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.08Suggestive
atrial fibrillationOpen Targets
0.07Suggestive
cardiac conduction defectOpen Targets
0.07Suggestive
dilated cardiomyopathyOpen Targets
0.07Suggestive
sinoatrial node dysfunction and deafnessOpen Targets
0.07Suggestive
Atrial stand stillOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PHYHIPShared pathway100%AKAIN1Shared pathway100%STK11IPShared pathway100%TNS4Shared pathway100%PRR12Shared pathway100%ODR4Shared pathway100%
Tissue Expression6 tissues
Lung
100%
Ovary
99%
Bone Marrow
99%
Brain
88%
Heart
79%
Liver
74%
Gene Interaction Network
Click a node to explore
AKAP10PHYHIPAKAIN1STK11IPTNS4PRR12ODR4
PROTEIN STRUCTURE
Preparing viewer…
PDB3IM4 · 2.28 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.38Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.25 [0.17–0.38]
RankingsWhere AKAP10 stands among ~20K protein-coding genes
  • #7,234of 20,598
    Most Researched64
  • #1,842of 17,882
    Most Constrained (LOEUF)0.38 · top quartile
Genes detectedAKAP10
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Gene-trapped mouse embryonic stem cell-derived cardiac myocytes and human genetics implicate AKAP10 in heart rhythm regulation.
PMID: 17485678
Proc Natl Acad Sci U S A · 2007
1.00
2
Regulatory T cells-related gene in primary sclerosing cholangitis: evidence from Mendelian randomization and transcriptome data.
PMID: 39496776
Genes Immun · 2024
0.90
3
Genetic association of AKAP10 gene polymorphism with reduced risk of preterm birth.
PMID: 26110499
J Perinatol · 2015
0.80
4
Erythropoietin signaling regulates heme biosynthesis.
PMID: 28553927
Elife · 2017
0.70
5
PKA RIα/A-kinase anchoring proteins 10 signaling pathway and the prognosis of colorectal cancer.
PMID: 25213315
J Gastroenterol Hepatol · 2015
0.60