KIF5C

Chr 2

kinesin family member 5C

Also known as: CDCBM2, KINN, NKHC, NKHC-2, NKHC2

NCBI Gene: 3800 ENSG00000168280 UniProt: O60282

KIF5C encodes a kinesin heavy chain that transports cargo along microtubules in the central nervous system and is involved in synaptic transmission, dendritic mRNA trafficking, and axonal transport. Mutations cause complex cortical dysplasia with other brain malformations through autosomal dominant inheritance. This gene is extremely intolerant to loss-of-function variants (pLI ~1.0), reflecting its critical role in neuronal function.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a kinesin heavy chain subunit involved in the transport of cargo within the central nervous system. The encoded protein, which acts as a tetramer by associating with another heavy chain and two light chains, interacts with protein kinase CK2. Mutations in this gene have been associated with complex cortical dysplasia with other brain malformations-2. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Jul 2015]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCortical dysplasia, complex, with other brain malformations 2

Clinical highlights

Gene-disease validity (ClinGen)

complex cortical dysplasia with other brain malformations 2 · ADModerateconsider for supplementary testing

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.12

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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