Gene
NUP54
nucleoporin 54
- HGNC 17359↗(opens in a new tab)
- Ensembl gene ENSG00000138750↗(opens in a new tab)
- NCBI Gene 53371↗(opens in a new tab)
Summary
- Cytogenetic location
- 4q21.1
- Coordinates
- Chromosome 4: 76,114,664–76,148,397 (GRCh38)
- Exons
- 12 exons across 33.7 kb
- Protein
- 507 amino acids
- MANE Select transcript
- ENST00000264883.8NM_017426.4
- 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.
Read NUP54, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated reports relevant to this gene
No Genome Test report reads NUP54 yet. The test sequences your whole genome, so your data includes it all the same.
How NUP54 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
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 2.2 kb of the gene's 33.7 kb; 1,524 of those bases code for the protein.
Traits linked to NUP54
The Human Phenotype Ontology lists these as features of the rare conditions NUP54 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Ataxia
- Chorea
- Difficulty articulating speech
- Loss of ability to walk
- Motor delay
- Abnormal gait
- Abnormal speech pattern
- Atrophy/Degeneration involving the caudate nucleus
Show 19 more traits
- Babinski sign
- Basal ganglia gliosis
- Choreoathetosis
- Delayed speech and language development
- Dystonia
- Generalized dystonia
- Inability to coordinate movements when walking
- Increased reflexes
- Intellectual disability
- Intellectual disability, mild
- Leg dystonia
- Loss of developmental milestones
- Neurodevelopmental delay
- Pauses in breathing while sleeping
- Tetraparesis
- Astrocytosis
- Basal ganglia cysts
- Jerking
- Small basal ganglia
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.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Cite this page
Dante Labs. (n.d.). NUP54 gene: nucleoporin 54. Retrieved 17 October 2026, from https://dantelabs.com/genes/nup54
Dante Labs. NUP54 gene: nucleoporin 54 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nup54
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks