EAF2

Chr 3

ELL associated factor 2

Also known as: BM040, TRAITS, U19

NCBI Gene: 55840ENSG00000145088UniProt: Q96CJ1OMIM: 607659

Enables transcription elongation factor activity. Involved in positive regulation of transcription by RNA polymerase II and regulation of transcription elongation by RNA polymerase II. Part of transcription elongation factor complex. Biomarker of prostate cancer. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
LOEUF 1.45
Clinical Summary— EAF2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.45LOEUF
pLI 0.000
Z-score 0.39
OE 0.88 (0.55–1.45)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.25Z-score
OE missense 0.94 (0.81–1.09)
129 obs / 137.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.88 (0.55–1.45)
0≤0.351.4
Missense OE?0.94 (0.81–1.09)
0≤0.61.4
Synonymous OE?0.87
0≤1.21.6
LoF obs/exp: 11 / 12.5Missense obs/exp: 129 / 137.2Syn Z: 0.68

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

EAF2 · 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.

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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