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MAP3K14

Chr 17q21.31

mitogen-activated protein kinase kinase kinase 14

Aliases:
NIK, HSNIK, FTDCR1B, HS
MANE:
ENST00000344686.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • immunodeficiency 112

    0.57
  • NIK deficiency

    0.51
  • Abnormality of the skeletal system

    0.32
  • autoimmune disorder of central nervous system

    0.27
  • atopic eczema

    0.21
  • multiple sclerosis

    0.20
  • type 1 diabetes mellitus

    0.18
  • asthma

    0.18
  • preeclampsia

    0.17
  • Abnormal erythrocyte morphology

    0.16

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

Protein function (UniProt)

Mitogen-activated protein kinase kinase kinase 14

Lymphotoxin beta-activated kinase which seems to be exclusively involved in the activation of NF-kappa-B and its transcriptional activity. Phosphorylates CHUK/IKKA, thereby promoting proteolytic processing of NFKB2/P100, which leads to NF-kappa-B activation via the non-canonical pathway (PubMed:25406581, PubMed:29230214). Has an essential role in the non-canonical NF-kappa-B signaling that regulates genes encoding molecules involved in B-cell survival, lymphoid organogenesis, and immune response (PubMed:25406581). Could act in a receptor-selective manner

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.