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C2ORF88

Chr 2

A-kinase anchoring protein 19

Also known as: C2orf88, smAKAP

NCBI Gene: 84281 UniProt: Q9BSF0 OMIM: 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.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable protein kinase A regulatory subunit binding activity. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 1.94

Clinical Summary— C2ORF88

⚡

Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

📋

ClinVar Variants

45 VUS of 77 total submissions

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Some data sources returned errors (1)

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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 OE?1.73 (0.61–1.94)

0≤0.351.4

Missense OE?1.00 (0.80–1.27)

0≤0.61.4

Synonymous OE?1.15

0≤1.21.6

LoF obs/exp: 3 / 1.7Missense obs/exp: 51 / 50.8Syn Z: -0.50

ClinVar Variant Classifications

77 submitted variants in ClinVar

ClinVar

Classification Summary

VUS45

Likely Benign10

Benign22

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	27	13	5	45
Likely Benign	5	2	3	10
Benign	2	18	2	22
Total	34	33	10	77

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

View in ClinVar →

14 pathogenic / likely-pathogenic (of 16) ClinVar copy-number / structural variants overlap C2ORF88 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →