Ensembl is currently experiencing issues

The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.

You can check Ensembl's status at status.ensembl.org

C2ORF88

Chr 2

A-kinase anchoring protein 19

Also known as: C2orf88, smAKAP

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]

OMIMResearchGenerating clinical summary…
LOEUF 1.94
Clinical SummaryC2ORF88
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
Some data sources returned errors (1)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/C2ORF88?content-type=application/json&expand=1

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.94LOEUF
pLI 0.003
Z-score -0.89
OE 1.73 (0.611.94)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.01Z-score
OE missense 1.00 (0.801.27)
51 obs / 50.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.73 (0.611.94)
00.351.4
Missense OE?1.00 (0.801.27)
00.61.4
Synonymous OE?1.15
01.21.6
LoF obs/exp: 3 / 1.7Missense obs/exp: 51 / 50.8Syn Z: -0.50

ClinVar Variant Classifications

77 submitted variants in ClinVar

Classification Summary

VUS45
Likely Benign10
Benign22
45
VUS
10
Likely Benign
22
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
27
13
5
45
Likely Benign
0
5
2
3
10
Benign
0
2
18
2
22
Total034331077

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 →

Protein Context — Lollipop Plot

C2ORF88 · 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.

Search ClinicalTrials.gov →