KIF2A

Chr 5

kinesin family member 2A

Also known as: CDCBM3, HK2, KIF2

NCBI Gene: 3796 ENSG00000068796 UniProt: O00139

The protein is a plus end-directed motor required for normal mitotic spindle activity and brain development. Autosomal dominant loss-of-function mutations cause cortical dysplasia with complex brain malformations. The high constraint against loss-of-function variants (pLI 0.99, LOEUF 0.16) reflects the protein's essential role in mitotic progression and neurodevelopment.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

The protein encoded by this gene is a plus end-directed motor required for normal mitotic progression. The encoded protein is required for normal spindle activity during mitosis and is necessary for normal brain development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCortical dysplasia, complex, with other brain malformations 3

Clinical highlights

Interpreting a novel variant

A dominant-negative effect is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.16

LOEUF· LoF intol.

DN*

Mechanism· G2P

Some data sources returned errors (1)

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