AKAP7

Chr 6

A-kinase anchoring protein 7

Also known as: AKAP15, AKAP18

This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
P/LP submissions
P/LP missense
1.22
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.22LOEUF
pLI 0.000
Z-score 0.91
OE 0.75 (0.481.22)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.17Z-score
OE missense 0.96 (0.851.10)
164 obs / 170.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.75 (0.481.22)
00.351.4
Missense OE?0.96 (0.851.10)
00.61.4
Synonymous OE?0.86
01.21.6
LoF obs/exp: 12 / 15.9Missense obs/exp: 164 / 170.2Syn Z: 0.85

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

AKAP7 · 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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