POU2AF1

Chr 11

POU class 2 homeobox associating factor 1

Also known as: BOB1, OBF-1, OBF1, OCAB

NCBI Gene: 5450ENSG00000110777UniProt: Q16633

Enables transcription coactivator activity. Involved in positive regulation of transcription by RNA polymerase II. Part of RNA polymerase II transcription regulator complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
LOEUF 0.57
Clinical Summary— POU2AF1
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Gene-Disease Validity (ClinGen)
agammaglobulinemia · ARLimited

Limited evidence — not for standalone diagnostic reporting

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Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.57) — some intolerance to loss-of-function variants.
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ClinVar Variants
25 VUS of 50 total submissions
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Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.57LOEUF
pLI 0.566
Z-score 2.53
OE 0.18 (0.07–0.57)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.95Z-score
OE missense 0.78 (0.68–0.91)
120 obs / 153.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.18 (0.07–0.57)
0≤0.351.4
Missense OE?0.78 (0.68–0.91)
0≤0.61.4
Synonymous OE?1.17
0≤1.21.6
LoF obs/exp: 2 / 11.1Missense obs/exp: 120 / 153.1Syn Z: -1.14

ClinVar Variant Classifications

50 submitted variants in ClinVar

ClinVar

Classification Summary

VUS25
Likely Benign8
Benign12
25
VUS
8
Likely Benign
12
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
2
23
0
0
25
Likely Benign
0
2
2
4
8
Benign
0
0
10
2
12
Total22512645

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

17 pathogenic / likely-pathogenic (of 21) ClinVar copy-number / structural variants overlap POU2AF1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

POU2AF1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

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