WSB2

Chr 12AR

WD repeat and SOCS box containing 2

Also known as: LAGNS, SBA2

The protein functions as a substrate-recognition component of an E3 ubiquitin ligase complex that targets specific proteins for degradation through the ubiquitin-proteasome system. Mutations cause Luo-Agrawal neurodevelopmental syndrome, which follows an autosomal recessive inheritance pattern. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 0.361 OMIM phenotype
Clinical SummaryWSB2
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.93). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.36LOEUF
pLI 0.929
Z-score 3.72
OE 0.14 (0.060.36)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
2.14Z-score
OE missense 0.61 (0.530.70)
144 obs / 236.7 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.14 (0.060.36)
00.351.4
Missense OE0.61 (0.530.70)
00.61.4
Synonymous OE1.07
01.21.6
LoF obs/exp: 3 / 21.7Missense obs/exp: 144 / 236.7Syn Z: -0.54

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

WSB2 · 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

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 4 full-text resultsSearch PubTator3 ↗