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KIF22

Chr 16p11.2

kinesin family member 22

Aliases:
Kid, OBP-1, OBP-2
MANE:
ENST00000160827.9

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

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

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Clefting

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Osteogenesis imperfecta

Disease associations (Open Targets)

  • spondyloepimetaphyseal dysplasia with multiple dislocations

    0.77
  • hereditary disease

    0.42
  • spondyloepimetaphyseal dysplasia with joint laxity

    0.37
  • skeletal dysplasia

    0.12
  • neoplasm

    0.08
  • orchitis

    0.08
  • epididymitis

    0.08
  • gastric cancer

    0.08
  • melanoma

    0.08
  • urinary bladder cancer

    0.08

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

Protein function (UniProt)

Kinesin-like protein KIF22

Kinesin family member that is involved in spindle formation and the movements of chromosomes during mitosis and meiosis. Binds to microtubules and to DNA (By similarity). Plays a role in congression of laterally attached chromosomes in NDC80-depleted cells (PubMed:25743205)

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.