Gene
NUP214
nucleoporin 214
- HGNC 8064↗(opens in a new tab)
- Ensembl gene ENSG00000126883↗(opens in a new tab)
- NCBI Gene 8021↗(opens in a new tab)
Summary
- Cytogenetic location
- 9q34.13
- Coordinates
- Chromosome 9: 131,125,586–131,234,663 (GRCh38)
- Exons
- 36 exons across 109.1 kb
- Protein
- 2,090 amino acids
- Also known as
- CAIN, CAN, D9S46E, N214
- MANE Select transcript
- ENST00000359428.10NM_005085.4
- 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 NUP214 yet. The test sequences your whole genome, so your data includes it all the same.
How NUP214 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- 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 7.6 kb of the gene's 109.1 kb; 6,273 of those bases code for the protein.
How a genome test reads NUP214
2
positions in NUP214 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 109.1 kb of NUP214, introns included, not only the 7.6 kb of exons.
Traits linked to NUP214
The Human Phenotype Ontology lists these as features of the rare conditions NUP214 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Epilepsy
- Global developmental delay
- Extra-axial cerebrospinal fluid accumulation
- Generalized brain degeneration
- Grand mal seizures
- Increased reflexes
- Loss of developmental milestones
- Ataxia
Show 3 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.). NUP214 gene: nucleoporin 214. Retrieved 16 October 2026, from https://dantelabs.com/genes/nup214
Dante Labs. NUP214 gene: nucleoporin 214 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/nup214
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