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NFKBIA

Chr 14q13.2

NFKB inhibitor alpha

Aliases:
IKBA, MAD-3, IkappaBalpha
MANE:
ENST00000216797.10

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Ectodermal dysplasia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Ectodermal dysplasia without a known gene mutation

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Familial Meniere Disease

Disease associations (Open Targets)

  • ectodermal dysplasia and immunodeficiency 2

    0.75
  • Hypohidrotic ectodermal dysplasia with immunodeficiency

    0.66
  • psoriasis

    0.51
  • asthma

    0.50
  • Crohn disease

    0.49
  • diffuse large B-cell lymphoma

    0.44
  • inflammatory bowel disease

    0.41
  • psoriasis vulgaris

    0.39
  • hypohidrotic ectodermal dysplasia

    0.38
  • childhood onset asthma

    0.38

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

Protein function (UniProt)

NF-kappa-B inhibitor alpha

Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL (RELA/p65 and NFKB1/p50) dimers in the cytoplasm by masking their nuclear localization signals (PubMed:1493333, PubMed:36651806, PubMed:7479976). On cellular stimulation by immune and pro-inflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription (PubMed:7479976, PubMed:7628694, PubMed:7796813, PubMed:7878466)

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.