POU2AF2

Chr 11

POU class 2 homeobox associating factor 2

Also known as: C11orf53, OCA-T1, OCAT1

NCBI Gene: 341032 ENSG00000150750 UniProt: Q8IXP5

Enables sequence-specific DNA binding activity and transcription coactivator activity. Predicted to be involved in DNA-templated transcription and positive regulation of DNA-templated transcription. Located in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.36

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.36LOEUF

pLI 0.002

Z-score 0.89

OE 0.65 (0.34–1.36)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.23Z-score

OE missense 0.95 (0.83–1.09)

143 obs / 150.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.65 (0.34–1.36)

0≤0.351.4

Missense OE?0.95 (0.83–1.09)

0≤0.61.4

Synonymous OE?0.99

0≤1.21.6

LoF obs/exp: 5 / 7.7Missense obs/exp: 143 / 150.9Syn Z: 0.06

Background carrier burden — how many people carry a rare variant somewhere in POU2AF2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 210

401 rare PASS variants

Rare truncating (LoF)

1 in 590

64 rare PASS variants

Rare synonymous (reference)

1 in 220

164 rare PASS variants

Rare missense and truncating variants are carried at similar rates in POU2AF2; this gene does not show strong loss-of-function constraint by this measure. 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 280	1 in 560
South Asian	~43k	1 in 90	1 in 890
Remaining (unassigned)	~30k	1 in 160	1 in 500
European (Finnish)	~27k	1 in 1,400	1 in 1,600
Admixed American	~22k	1 in 130	1 in 580
African / African American	~21k	1 in 110	1 in 820
East Asian	~20k	1 in 200	1 in 890
Ashkenazi Jewish	~13k	1 in 590	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 160	≈ 1 in 2,600

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): 3 of 5 coding exons well covered in gnomAD exomes; exons 1, 2 poorly covered. Genomes: all 5.? see exons ↓