DCAF8L2

Chr X

DDB1 and CUL4 associated factor 8 like 2

Also known as: WDR42C

NCBI Gene: 347442ENSG00000189186UniProt: P0C7V8

The protein is predicted to function as part of the Cul4-RING E3 ubiquitin ligase complex and localizes to the nucleus and cytoplasm. No definitive disease associations have been established for DCAF8L2 mutations. The gene shows high intolerance to loss-of-function variants (pLI 0.82, LOEUF 0.47), suggesting it may be essential for normal development.

ResearchSummary from RefSeq
LOEUF 0.47
Clinical Summary— DCAF8L2
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.82) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
80 unique Pathogenic / Likely Pathogenic· 13 VUS of 100 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.47LOEUF
pLI 0.819
Z-score 2.64
OE 0.10 (0.03–0.47)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.34Z-score
OE missense 0.76 (0.68–0.86)
190 obs / 249.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.10 (0.03–0.47)
0≤0.351.4
Missense OE0.76 (0.68–0.86)
0≤0.61.4
Synonymous OE1.09
0≤1.21.6
LoF obs/exp: 1 / 10.0Missense obs/exp: 190 / 249.8Syn Z: -0.67

ClinVar Variant Classifications

100 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic79
Likely Pathogenic1
VUS13
Likely Benign6
79
Pathogenic
1
Likely Pathogenic
13
VUS
6
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
79
0
79
Likely Pathogenic
0
0
1
0
1
VUS
0
7
6
0
13
Likely Benign
0
4
0
2
6
Benign
0
0
0
0
0
Total01186299

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

View in ClinVar →

Protein Context — Lollipop Plot

DCAF8L2 · 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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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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