POU3F2

Chr 6

POU class 3 homeobox 2

Also known as: BRN2, N-Oct3, OCT7, OTF-7, OTF7, POUF3, brn-2, oct-7

NCBI Gene: 5454ENSG00000184486UniProt: P20265OMIM: 600494

This gene encodes a member of the POU-III class of neural transcription factors. The encoded protein is involved in neuronal differentiation and enhances the activation of corticotropin-releasing hormone regulated genes. Overexpression of this protein is associated with an increase in the proliferation of melanoma cells. [provided by RefSeq, Mar 2012]

OMIMResearchGenerating clinical summary…

Clinical highlights

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.
0
Active trials
17
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.38
LOEUF
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.38LOEUF
pLI 0.920
Z-score 3.01
OE 0.08 (0.03–0.38)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.72Z-score
OE missense 0.49 (0.41–0.57)
108 obs / 222.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.08 (0.03–0.38)
0≤0.351.4
Missense OE?0.49 (0.41–0.57)
0≤0.61.4
Synonymous OE?1.14
0≤1.21.6
LoF obs/exp: 1 / 12.5Missense obs/exp: 108 / 222.2Syn Z: -1.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

POU3F2 · 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 →

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