DCAF8L2

Chr X

DDB1 and CUL4 associated factor 8 like 2

Also known as: WDR42C

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.

Summary from RefSeq
Research Assistant →
0
Active trials
0
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.47
LOEUF
Mechanism
Clinical SummaryDCAF8L2
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.82) — some intolerance to loss-of-function variants.
Some data sources returned errors (1)

ensembl: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.47LOEUF
pLI 0.819
Z-score 2.64
OE 0.10 (0.030.47)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.34Z-score
OE missense 0.76 (0.680.86)
190 obs / 249.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.10 (0.030.47)
00.351.4
Missense OE0.76 (0.680.86)
00.61.4
Synonymous OE1.09
01.21.6
LoF obs/exp: 1 / 10.0Missense obs/exp: 190 / 249.8Syn Z: -0.67

ClinVar Variant Classifications

0 submitted variants 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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC