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KIF3B

Chr 20q11.21

kinesin family member 3B

Aliases:
KIAA0359, FLA8, KLP-11
MANE:
ENST00000375712.4

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Ophthalmological ciliopathies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Retinal disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • retinitis pigmentosa 89

    0.52
  • neurodegenerative disease

    0.37
  • oligospermia

    0.33
  • alcohol drinking

    0.28
  • Abnormality of the skeletal system

    0.26
  • respiratory failure

    0.25
  • asthma

    0.24
  • Alzheimer disease

    0.24
  • Hepatic fibrosis

    0.23
  • postaxial polydactyly

    0.23

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

Protein function (UniProt)

Kinesin-like protein KIF3B

Microtubule-based molecular motor that transport intracellular cargos, such as vesicles, organelles and protein complexes. Uses ATP hydrolysis to generate force to bind and move along the microtubule (By similarity). Plays a role in cilia formation (PubMed:32386558). Involved in photoreceptor integrity and opsin trafficking in rod photoreceptors (PubMed:32386558). Transports vesicles containing N-methyl-D-aspartate (NMDA) receptor subunit GRIN2A into neuronal dendrites (By similarity)

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.