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4 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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AKAP14
A-kinase anchoring protein 14
Chromosome X · Xq24
NCBI Gene: 158798Ensembl: ENSG00000186471.14HGNC: HGNC:24061UniProt: Q86UN6
12PubMed Papers
14Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein kinase A regulatory subunit bindingaxonemecAMP-dependent protein kinase complexneurodegenerative diseaseependymomaAbnormal sperm morphologynasopharyngeal neoplasm
✦AI Summary

AKAP14 (A-kinase anchoring protein 14) is an X-linked scaffold protein that binds type II regulatory subunits of protein kinase A (PKA) and targets them to specific cellular locations 1. The protein is highly expressed in testicular tissues and shows localization to axonemal structures, consistent with the broader AKAP family's role in anchoring PKA complexes to subcellular compartments 2. However, AKAP14 knockout mice exhibit normal fertility with unchanged spermatogenesis, sperm motility, morphology, and meiotic progression, indicating the protein is dispensable for male reproductive function in mice 2. Genome-wide association studies identify AKAP14 variants associated with colorectal cancer risk and site-specific differential gene expression in colonic mucosa, with rs3087967-associated AKAP14 expression showing opposite directional effects between proximal and distal regions 3. Additionally, AKAP14 genetic variants (rs964680) differentiate circulatory versus digestive system comorbidities in type 2 diabetes patients and contribute to machine learning models predicting disease phenotypes 4. While AKAP14's canonical PKA-anchoring function is established, its disease relevance appears primarily through genetic associations rather than essential physiological roles in fertility.

Sources cited
1
AKAPs localize PKA to subcellular compartments; demonstrates axonemal AKAP localization and PKA signaling in cilia
PMID: 12475942
2
AKAP14 knockout mice show normal fertility, sperm parameters, and spermatogenesis, demonstrating AKAP14 is dispensable for male reproductive function
PMID: 40418986
3
AKAP14 shows site-specific differential eQTL signals associated with colorectal cancer risk variants in proximal versus distal colonic mucosa
PMID: 33937989
4
AKAP14 genetic variant rs964680 differentiates type 2 diabetes comorbidity phenotypes and contributes to machine learning prediction models
PMID: 39508856
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ14
neurodegenerative diseaseOpen Targets
0.25Weak
ependymomaOpen Targets
0.03Suggestive
Abnormal sperm morphologyOpen Targets
0.02Suggestive
nasopharyngeal neoplasmOpen Targets
0.02Suggestive
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.02Suggestive
childhood supratentorial ependymomaOpen Targets
0.01Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
endometrial carcinomaOpen Targets
0.01Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
oral squamous cell carcinomaOpen Targets
0.00Suggestive
endometriosisOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PRKACGProtein interaction100%PRKACAProtein interaction96%PRKACBProtein interaction96%PRKAR2AProtein interaction96%PRKAR2BProtein interaction96%AKAP1Protein interaction96%
Tissue Expression6 tissues
Brain
100%
Lung
67%
Bone Marrow
17%
Ovary
8%
Liver
0%
Heart
0%
Gene Interaction Network
Click a node to explore
AKAP14PRKACGPRKACAPRKACBPRKAR2APRKAR2BAKAP1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q86UN6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.54Moderately Constrained
pLIⓘ
0.95Intolerant
Observed/Expected LoF0.23 [0.12–0.54]
RankingsWhere AKAP14 stands among ~20K protein-coding genes
  • #16,383of 20,598
    Most Researched12
  • #3,385of 17,882
    Most Constrained (LOEUF)0.54 · top quartile
Genes detectedAKAP14
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Differential genetic influences over colorectal cancer risk and gene expression in large bowel mucosa.
PMID: 33937989
Int J Cancer · 2021
1.00
2
Clinical, genomic, and proteomic perspectives in the analysis of comorbid conditions in type 2 diabetes mellitus: a retrospective study.
PMID: 39508856
Acta Diabetol · 2025
0.75
3
AKAP14 is dispensable for mouse fertility.
PMID: 40418986
Cells Dev · 2025
0.50
4
Characterization of an A-kinase anchoring protein in human ciliary axonemes.
PMID: 12475942
Mol Biol Cell · 2002
0.25