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NEK9

Chr 14q24.3

NIMA related kinase 9

Aliases:
Nek8, NERCC, DKFZp434D0935, MGC16714, NERCC1
MANE:
ENST00000238616.10

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Arthrogryposis

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Mosaic skin disorders - deep sequencing

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • NEK9-related lethal skeletal dysplasia

    0.71
  • arthrogryposis, Perthes disease, and upward gaze palsy

    0.64
  • nevus comedonicus syndrome

    0.63
  • hereditary disease

    0.42
  • neurodegenerative disease

    0.38
  • autoimmune disorder of central nervous system

    0.36
  • Goldberg-Shprintzen syndrome

    0.33
  • Epidermal Inclusion Cyst

    0.19
  • coronary artery disorder

    0.17
  • sebaceous gland disorder

    0.14

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

Protein function (UniProt)

Serine/threonine-protein kinase Nek9

Pleiotropic regulator of mitotic progression, participating in the control of spindle dynamics and chromosome separation (PubMed:12101123, PubMed:12840024, PubMed:14660563, PubMed:19941817). Phosphorylates different histones, myelin basic protein, beta-casein, and BICD2 (PubMed:11864968). Phosphorylates histone H3 on serine and threonine residues and beta-casein on serine residues (PubMed:11864968). Important for G1/S transition and S phase progression (PubMed:12840024, PubMed:14660563, PubMed:19941817). Phosphorylates NEK6 and NEK7 and stimulates their activity by releasing the autoinhibitory functions of Tyr-108 and Tyr-97 respectively (PubMed:12840024, PubMed:14660563, PubMed:19941817, PubMed:26522158)

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.