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KIF14

Chr 1q32.1

kinesin family member 14

Aliases:
KIAA0042
MANE:
ENST00000367350.5

Annotations refreshed 11 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Severe microcephaly

    BIALLELIC, autosomal or pseudoautosomal
  • Renal ciliopathies

    BIALLELIC, autosomal or pseudoautosomal
  • Ductal plate malformation

    BIALLELIC, autosomal or pseudoautosomal
  • Familial Neural Tube Defects

    BIALLELIC, autosomal or pseudoautosomal
  • Neurological ciliopathies

    BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • microcephaly 20, primary, autosomal recessive

    0.72
  • lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

    0.70
  • autosomal recessive primary microcephaly

    0.67
  • neurodegenerative disease

    0.55
  • Joubert syndrome and related disorders

    0.40
  • hereditary disease

    0.19
  • hepatocellular carcinoma

    0.11
  • colorectal carcinoma

    0.11
  • lysosomal storage disease

    0.11
  • neoplasm

    0.10

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

Protein function (UniProt)

Kinesin-like protein KIF14

Microtubule motor protein that binds to microtubules with high affinity through each tubulin heterodimer and has an ATPase activity (By similarity). Plays a role in many processes like cell division, cytokinesis and also in cell proliferation and apoptosis (PubMed:16648480, PubMed:24784001). During cytokinesis, targets to central spindle and midbody through its interaction with PRC1 and CIT respectively (PubMed:16431929). Regulates cell growth through regulation of cell cycle progression and cytokinesis (PubMed:24854087). During cell cycle progression acts through SCF-dependent proteasomal ubiquitin-dependent protein catabolic process which controls CDKN1B degradation, resulting in positive regulation of cyclins, including CCNE1, CCND1 and CCNB1 (PubMed:24854087). During late neurogenesis, regulates the cerebellar, cerebral cortex and olfactory bulb development through regulation of apoptosis, cell proliferation and cell division (By similarity). Also is required for chromosome congression and alignment during mitotic cell cycle process (PubMed:15843429). Regulates cell spreading, focal adhesion dynamics, and cell migration through its interaction with RADIL resulting in regulation of RAP1A-mediated inside-out integrin activation by tethering RADIL on microtubules (PubMed:23209302)

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.