AKAP11

Chr 13

A-kinase anchoring protein 11

Also known as: AKAP-11, AKAP220, PPP1R44, PRKA11

NCBI Gene: 11215ENSG00000023516UniProt: Q9UKA4OMIM: 604696

The protein anchors and targets protein kinase A regulatory subunits to specific cellular locations and is highly expressed during spermatogenesis. AKAP11 is highly constrained against loss-of-function variants (pLI 0.98, LOEUF 0.3), suggesting mutations may cause significant clinical effects. Specific disease associations and inheritance patterns for AKAP11 mutations have not been established in the provided data.

OMIMResearchSummary from RefSeq, UniProt
LOFmechanismLOEUF 0.30
Clinical Summary— AKAP11
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.98). One damaged copy is likely sufficient to cause disease.
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ClinVar Variants
49 unique Pathogenic / Likely Pathogenic· 260 VUS of 354 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.30LOEUF
pLI 0.979
Z-score 6.07
OE 0.19 (0.12–0.30)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
0.31Z-score
OE missense 0.97 (0.92–1.03)
920 obs / 947.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.19 (0.12–0.30)
0≤0.351.4
Missense OE0.97 (0.92–1.03)
0≤0.61.4
Synonymous OE1.03
0≤1.21.6
LoF obs/exp: 12 / 64.7Missense obs/exp: 920 / 947.1Syn Z: -0.39
DN
0.3792th %ile
GOF
0.5366th %ile
LOF
0.70top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.30

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

354 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic49
VUS260
Likely Benign17
Benign9
49
Pathogenic
260
VUS
17
Likely Benign
9
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
49
0
49
Likely Pathogenic
0
0
0
0
0
VUS
0
257
3
0
260
Likely Benign
0
16
0
1
17
Benign
0
9
0
0
9
Total0282521335

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

AKAP11 · 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.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Schizophrenia-Related Synaptic Dysfunction and Abnormal Sensorimotor Gating in Akap11-Deficient Mice.
Zhang YQ et al.·Schizophr Bull
2026Open Access
Bipolar and schizophrenia risk gene AKAP11 encodes an autophagy receptor coupling the regulation of PKA kinase network homeostasis to synaptic transmission.
Lee YK et al.·Nat Commun
2025Open Access
Elevated synaptic PKA activity and abnormal striatal dopamine signaling in Akap11 mutant mice, a genetic model of schizophrenia and bipolar disorder.
Song BJ et al.·Nat Commun
2025Open AccessFunctional
Lithium partially rescues gene expression and enhancer activity from heterozygous knockout of AKAP11 while inducing novel differential changes.
Farhangdoost N et al.·Sci Rep
2025Open Access
Associations of Rare Variants in the AKAP11 Gene with Bipolar Disorder in Chinese Population.
Zhang Y et al.·Neuropsychiatr Dis Treat
2025Open Access
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