AKAP10

Chr 17

A-kinase anchoring protein 10

Also known as: AKAP-10, D-AKAP-2, D-AKAP2, PRKA10

NCBI Gene: 11216ENSG00000108599UniProt: O43572OMIM: 604694

The AKAP10 protein binds regulatory subunits of protein kinase A and anchors them to mitochondria and plasma membranes, facilitating cellular signaling pathways including apoptosis regulation. Mutations cause autosomal dominant arrhythmogenic disorders with increased risk of cardiac arrhythmias and sudden cardiac death. This gene shows high constraint against loss-of-function variants (LOEUF 0.44), suggesting haploinsufficiency may be an important disease mechanism.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.44
Clinical Summary— AKAP10
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Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.25) despite low pLI — interpret in context.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.44LOEUF
pLI 0.108
Z-score 4.13
OE 0.25 (0.15–0.44)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.35Z-score
OE missense 0.79 (0.71–0.88)
263 obs / 332.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.25 (0.15–0.44)
0≤0.351.4
Missense OE0.79 (0.71–0.88)
0≤0.61.4
Synonymous OE1.04
0≤1.21.6
LoF obs/exp: 9 / 35.6Missense obs/exp: 263 / 332.3Syn Z: -0.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

AKAP10 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Regulatory T cells-related gene in primary sclerosing cholangitis: evidence from Mendelian randomization and transcriptome data
Hu J et al.·Genes Immun
2024
Mitochondria-Related Genome-Wide Mendelian Randomization Identifies Putatively Genes for Chronic Fatigue.
Zhang Z et al.·Mol Neurobiol
2026
Identification of genetic association between mitochondrial dysfunction and knee osteoarthritis through integrating multi-omics: a summary data-based Mendelian randomization study
Xie J et al.·Clin Rheumatol
2024
The role of circadian rhythm in the regulation of cellular protein profiles in the brain.
Beker MÇ et al.·Turk J Med Sci
2021
Identifying the mitochondrial metabolism network by integration of machine learning and explainable artificial intelligence in skeletal muscle in type 2 diabetes.
Sharma K et al.·Mitochondrion
2023
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Genetic association of AKAP10 gene polymorphism with reduced risk of preterm birth.
Langmia IM et al.·J Perinatol
2015
Polymorphism 1936A > G in the AKAP10 gene (encoding A-kinase-anchoring protein 10) is associated with higher cholesterol cord blood concentration in Polish full-term newsborns.
Łoniewska B et al.·J Perinat Med
2013
Association of 1936A > G in AKAP10 (A-kinase anchoring protein 10) and blood pressure in Polish full-term newborns.
Łoniewska B et al.·Blood Press
2013
1936A→G (I646 V) polymorphism in the AKAP10 gene encoding A-kinase-anchoring protein 10 in very long-lived poles is similar to that in newborns.
Łoniewska B et al.·Exp Aging Res
2012
Possible counter effect in newborns of 1936A>G (I646V) polymorphism in the AKAP10 gene encoding A-kinase-anchoring protein 10.
Łoniewska B et al.·J Perinatol
2012
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients