AKAP13

Chr 15

A-kinase anchoring protein 13

Also known as: AKAP-13, AKAP-Lbc, ARHGEF13, BRX, HA-3, Ht31, LBC, PRKA13

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. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]

OMIMResearchGenerating clinical summary…
LOFmechanismLOEUF 0.29
Clinical SummaryAKAP13
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.93). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint?
0.29LOEUF
pLI 0.929
Z-score 7.97
OE 0.21 (0.150.29)
Highly constrained

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

Missense Constraint?
-1.64Z-score
OE missense 1.12 (1.071.16)
1700 obs / 1519.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.21 (0.150.29)
00.351.4
Missense OE?1.12 (1.071.16)
00.61.4
Synonymous OE?1.19
01.21.6
LoF obs/exp: 25 / 118.7Missense obs/exp: 1700 / 1519.9Syn Z: -3.54

This gene — mechanism propensity

DN
0.4090th %ile
GOF
0.3293th %ile
LOF
0.70top 10%

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

LOFprediction above median · LOEUF 0.29

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

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

AKAP13 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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