IRF2BP2

Chr 1

interferon regulatory factor 2 binding protein 2

Also known as: CVID14, LRIR2

NCBI Gene: 359948 ENSG00000168264 UniProt: Q7Z5L9

The protein acts as a transcriptional corepressor that interacts with interferon regulatory factor-2 and plays a role in immature B-cell differentiation. Mutations cause common variable immunodeficiency with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI 0.85, LOEUF 0.45), indicating intolerance to protein disruption.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes an interferon regulatory factor-2 (IRF2) binding protein that interacts with the C-terminal transcriptional repression domain of IRF2. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtImmunodeficiency, common variable, 14

Clinical highlights

Gene-disease validity (ClinGen)

immunodeficiency, common variable, 14 · ADLimitednot for standalone diagnostic reporting

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.45

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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