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KIF21B

Chr 1q32.1

kinesin family member 21B

Aliases:
DKFZP434J212, KIAA0449
MANE:
ENST00000461742.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Intellectual disability

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

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • microcephaly

    0.42
  • Global developmental delay

    0.42
  • Intellectual disability

    0.42
  • Abnormal brain morphology

    0.42
  • neurodevelopmental disorder

    0.37
  • ulcerative colitis

    0.29
  • Cachexia

    0.29
  • autoimmune disease

    0.27
  • ankylosing spondylitis

    0.27
  • brain aneurysm

    0.25

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

Protein function (UniProt)

Kinesin-like protein KIF21B

Plus-end directed microtubule-dependent motor protein which displays processive activity. Is involved in regulation of microtubule dynamics, synapse function and neuronal morphology, including dendritic tree branching and spine formation. Plays a role in lerning and memory. Involved in delivery of gamma-aminobutyric acid (GABA(A)) receptor to cell surface

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.