POU4F2

Chr 4

POU class 4 homeobox 2

Also known as: BRN3.2, BRN3B, Brn-3b

The protein encoded by this gene is a member of the POU-domain transcription factor family and may be involved in maintaining visual system neurons in the retina. The level of the encoded protein is also elevated in a majority of breast cancers, resulting in accelerated tumor growth. [provided by RefSeq, Sep 2011]

OMIMResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
P/LP submissions
P/LP missense
0.95
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.95LOEUF
pLI 0.075
Z-score 1.68
OE 0.37 (0.170.95)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.08Z-score
OE missense 0.99 (0.881.10)
229 obs / 232.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.37 (0.170.95)
00.351.4
Missense OE?0.99 (0.881.10)
00.61.4
Synonymous OE?1.45
01.21.6
LoF obs/exp: 3 / 8.2Missense obs/exp: 229 / 232.4Syn Z: -3.56

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

POU4F2 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →