Gene
POU4F1
POU class 4 homeobox 1
- HGNC 9218↗(opens in a new tab)
- Ensembl gene ENSG00000152192↗(opens in a new tab)
- NCBI Gene 5457↗(opens in a new tab)
Summary
- Cytogenetic location
- 13q31.1
- Coordinates
- Chromosome 13: 78,598,362–78,603,552 (GRCh38)
- Exons
- 2 exons across 5.2 kb
- Protein
- 419 amino acids
- Also known as
- RDC-1
- Previous symbols
- BRN3A
- MANE Select transcript
- ENST00000377208.7NM_006237.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads POU4F1 yet. The test sequences your whole genome, so your data includes it all the same.
How POU4F1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4.5 kb of the gene's 5.2 kb; 1,260 of those bases code for the protein.
How a genome test reads POU4F1
3
positions in POU4F1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 5.2 kb of POU4F1, introns included, not only the 4.5 kb of exons.
Traits linked to POU4F1
The Human Phenotype Ontology lists these as features of the rare conditions POU4F1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Ataxia
- Global developmental delay
- Intention tremor
- Intellectual disability, mild
- Abnormal cortical gyration
- Abnormal social behavior
- Aggressive behavior
- Autism spectrum disorder
Show 14 more traits
- Delayed speech and language development
- Difficulty articulating speech
- Focal myoclonic seizure
- Lack of coordination of movement
- Memory impairment
- Nonprogressive cerebellar ataxia
- Small cerebellum
- Unsteady walk
- Speech apraxia
- Abnormal pyramidal sign
- Brisk reflexes
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Small hippocampus
- Positive Romberg sign
Abnormality of head or neck
Show 5 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). POU4F1 gene: POU class 4 homeobox 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/pou4f1
Dante Labs. POU4F1 gene: POU class 4 homeobox 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pou4f1
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