Skip to content
GenoLensGenoLens

NUP214

Chr 9q34.13

nucleoporin 214

Aliases:
CAIN, CAN, D9S46E, N214
MANE:
ENST00000359428.10
OMIM: 114350 ↗NCBI: 8021 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

  • Severe microcephaly

    BIALLELIC, autosomal or pseudoautosomal

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • COVID-19 research

Disease associations (Open Targets)

  • familial acute necrotizing encephalopathy

    0.66

  • influenza

    0.54

  • HIV infectious disease

    0.54

  • viral infectious disease

    0.53

  • T-cell acute lymphoblastic leukemia

    0.38

  • microcephaly

    0.37

  • Global developmental delay

    0.37

  • T-lymphoblastic lymphoma

    0.37

  • myeloproliferative disorder

    0.37

  • Histiocytosis

    0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Nuclear pore complex protein Nup214

Part of the nuclear pore complex (PubMed:9049309). Has a critical role in nucleocytoplasmic transport (PubMed:31178128). May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex (PubMed:31178128, PubMed:8108440)

Diseases associated with NUP214

Curated MONDO disease pages that list NUP214 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.