POU2F3

Chr 11

POU class 2 homeobox 3

Also known as: Epoc-1, OCT-11, OCT11, OTF-11, PLA-1, PLA1, Skn-1a

NCBI Gene: 25833 ENSG00000137709 UniProt: Q9UKI9 OMIM: 607394

This gene encodes a member of the POU domain family of transcription factors. POU domain transcription factors bind to a specific octamer DNA motif and regulate cell type-specific differentiation pathways. The encoded protein is primarily expressed in the epidermis, and plays a critical role in keratinocyte proliferation and differentiation. The encoded protein is also a candidate tumor suppressor protein, and aberrant promoter methylation of this gene may play a role in cervical cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

122

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.83

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.83LOEUF

pLI 0.000

Z-score 2.24

OE 0.53 (0.35–0.83)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.32Z-score

OE missense 0.94 (0.85–1.05)

236 obs / 250.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.53 (0.35–0.83)

0≤0.351.4

Missense OE?0.94 (0.85–1.05)

0≤0.61.4

Synonymous OE?0.97

0≤1.21.6

LoF obs/exp: 14 / 26.5Missense obs/exp: 236 / 250.1Syn Z: 0.26

Background carrier burden — how many people carry a rare variant somewhere in POU2F3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 90

557 rare PASS variants

Rare truncating (LoF)

1 in 880

73 rare PASS variants

Rare synonymous (reference)

1 in 190

215 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for POU2F3. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 130	1 in 1,500
South Asian	~43k	1 in 82	1 in 1,300
Remaining (unassigned)	~30k	1 in 120	1 in 450
European (Finnish)	~27k	1 in 520	≈ 1 in 27,000
Admixed American	~22k	1 in 80	1 in 1,100
African / African American	~21k	1 in 79	1 in 1,600
East Asian	~20k	1 in 80	1 in 870
Ashkenazi Jewish	~13k	1 in 570	1 in 2,100
Middle Eastern	~2,884	1 in 90	≈ 1 in 1,400

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 12 of 13 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 13.? see exons ↓