IRF2BPL

Chr 14

interferon regulatory factor 2 binding protein like

Also known as: C14orf4, EAP1, NEDAMSS

NCBI Gene: 64207ENSG00000119669UniProt: Q9H1B7

This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures

Clinical highlights

Gene-disease validity (ClinGen)
neurodegenerative disease · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
13
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.41
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — IRF2BPL
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.41LOEUF
pLI 0.836
Z-score 3.42
OE 0.16 (0.07–0.41)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.73Z-score
OE missense 0.90 (0.83–0.98)
377 obs / 419.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.16 (0.07–0.41)
0≤0.351.4
Missense OE?0.90 (0.83–0.98)
0≤0.61.4
Synonymous OE?1.88
0≤1.21.6
LoF obs/exp: 3 / 19.1Missense obs/exp: 377 / 419.3Syn Z: -9.69

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

IRF2BPL · 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