UBR4

Chr 1

ubiquitin protein ligase E3 component n-recognin 4

Also known as: RBAF600, ZUBR1, p600

NCBI Gene: 23352ENSG00000127481UniProt: Q5T4S7

The protein encoded by this gene is an E3 ubiquitin-protein ligase that interacts with the retinoblastoma-associated protein in the nucleus and with calcium-bound calmodulin in the cytoplasm. The encoded protein appears to be a cytoskeletal component in the cytoplasm and part of the chromatin scaffold in the nucleus. In addition, this protein is a target of the human papillomavirus type 16 E7 oncoprotein. [provided by RefSeq, Aug 2010]

Primary Disease Associations & Inheritance

UniProtEpisodic ataxia 8
0
Active trials
0
Pathogenic / LP
0
ClinVar variants
20
Pubs (1 yr)
5.7
Missense Z· constrained
0.10
LOEUF· LoF intolerant
Clinical Summary— UBR4
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint
0.10LOEUF
pLI 1.000
Z-score 13.87
OE 0.06 (0.04–0.10)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint
5.68Z-score
OE missense 0.70 (0.67–0.73)
2000 obs / 2854.5 exp
Constrained

Extremely missense-constrained (top ~0.01%)

Observed / Expected Ratios
LoF OE0.06 (0.04–0.10)
0≤0.351.4
Missense OE0.70 (0.67–0.73)
0≤0.61.4
Synonymous OE1.02
0≤1.21.6
LoF obs/exp: 16 / 254.9Missense obs/exp: 2000 / 2854.5Syn Z: -0.45
LOF
DN
0.2798th %ile
GOF
0.3094th %ile
LOF
0.74top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.10

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

UBR4 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
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