UNC5B

Chr 10

unc-5 netrin receptor B

Also known as: UNC5H2, p53RDL1

NCBI Gene: 219699ENSG00000107731UniProt: Q8IZJ1

This gene encodes a member of the netrin family of receptors. This particular protein mediates the repulsive effect of netrin-1 and is a vascular netrin receptor. This encoded protein is also in a group of proteins called dependence receptors (DpRs) which are involved in pro- and anti-apoptotic processes. Many DpRs are involved in embryogenesis and in cancer progression. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]

ResearchGenerating clinical summary…
2
Active trials
50
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.62
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.62LOEUF
pLI 0.000
Z-score 3.58
OE 0.42 (0.29–0.62)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.05Z-score
OE missense 0.99 (0.93–1.06)
602 obs / 605.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.42 (0.29–0.62)
0≤0.351.4
Missense OE?0.99 (0.93–1.06)
0≤0.61.4
Synonymous OE?1.07
0≤1.21.6
LoF obs/exp: 19 / 44.9Missense obs/exp: 602 / 605.6Syn Z: -0.83

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

UNC5B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

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