C2ORF88

Chr 2

A-kinase anchoring protein 19

Also known as: C2orf88, smAKAP

NCBI Gene: 84281ENSG00000187699UniProt: Q9BSF0OMIM: 615117

The protein binds to type I regulatory subunits of protein kinase A and anchors them to the plasma membrane. Mutations in this gene have not been definitively associated with human disease. The gene shows tolerance to loss-of-function variants (pLI 0.003, LOEUF 1.94), suggesting it may not be essential for normal development.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.94
Clinical Summary— C2ORF88
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.94LOEUF
pLI 0.003
Z-score -0.89
OE 1.73 (0.61–1.94)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.01Z-score
OE missense 1.00 (0.80–1.27)
51 obs / 50.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.73 (0.61–1.94)
0≤0.351.4
Missense OE1.00 (0.80–1.27)
0≤0.61.4
Synonymous OE1.15
0≤1.21.6
LoF obs/exp: 3 / 1.7Missense obs/exp: 51 / 50.8Syn Z: -0.50

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

C2ORF88 · 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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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