POU3F1

Chr 1

POU class 3 homeobox 1

Also known as: OCT6, OTF6, SCIP

NCBI Gene: 5453ENSG00000185668UniProt: Q03052

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; positive regulation of DNA-templated transcription; and positive regulation of gene expression. Predicted to act upstream of or within keratinocyte differentiation; nervous system development; and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2025]

56
ClinVar variants
5
Pathogenic / LP
0.56
pLI score
0
Active trials
Clinical Summary— POU3F1
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.56) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
5 Pathogenic / Likely Pathogenic· 48 VUS of 56 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.70LOEUF
pLI 0.565
Z-score 2.05
OE 0.15 (0.05–0.70)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
2.54Z-score
OE missense 0.42 (0.34–0.52)
64 obs / 152.3 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.15 (0.05–0.70)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.42 (0.34–0.52)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.03
0≤1.21.6
LoF obs/exp: 1 / 6.7Missense obs/exp: 64 / 152.3Syn Z: -0.23

ClinVar Variant Classifications

56 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic4
Likely Pathogenic1
VUS48
Likely Benign3
4
Pathogenic
1
Likely Pathogenic
48
VUS
3
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
4
0
4
Likely Pathogenic
0
0
1
0
1
VUS
0
45
3
0
48
Likely Benign
0
1
1
1
3
Benign
0
0
0
0
0
Total0469156

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

View in ClinVar →

Protein Context — Lollipop Plot

POU3F1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Research into the characteristic molecules significantly affecting liver cancer immunotherapy.
Chen J et al.·Front Immunol
2023
SOX12 Promotes Thyroid Cancer Cell Proliferation and Invasion by Regulating the Expression of POU2F1 and POU3F1.
Su Z et al.·Yonsei Med J
2022
Transcription Factors and Coregulators in Schwann Cell Differentiation, Myelination, and Remyelination: Implications for Peripheral Neuropathy.
Han SH et al.·J Neurosci Res
2025Review
Hedgehog signaling, epithelial-to-mesenchymal transition and miRNA (review).
Katoh Y et al.·Int J Mol Med
2008Review
Class III/IV POU transcription factors expressed in small cell lung cancer cells are involved in proneural/neuroendocrine differentiation.
Ishii J et al.·Pathol Int
2014
Loss of SOX10 function contributes to the phenotype of human Merlin-null schwannoma cells.
Doddrell RD et al.·Brain
2013
Heme oxygenase-1 in the forefront of a multi-molecular network that governs cell-cell contacts and filopodia-induced zippering in prostate cancer.
Paez AV et al.·Cell Death Dis
2016
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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