KIF14

Chr 1

kinesin family member 14

Also known as: MCPH20, MKS12

NCBI Gene: 9928 ENSG00000118193 UniProt: Q15058

KIF14 encodes a microtubule motor protein with ATPase activity that is essential for cytokinesis, chromosome alignment during mitosis, and regulation of cell cycle progression. Mutations cause autosomal recessive primary microcephaly and Meckel syndrome, both reflecting severe developmental abnormalities with early onset. The gene is highly constrained against loss-of-function variants (LOEUF 0.429), consistent with its critical role in fundamental cellular processes including neurogenesis.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the kinesin-3 superfamily of microtubule motor proteins. These proteins are involved in numerous processes including vesicle transport, chromosome segregation, mitotic spindle formation, and cytokinesis. In human HeLa-S3 and 293T cells, this protein is localized to the cytoplasm during interphase, to the spindle poles and spindle microtubules during mitosis, and to the midbody during cytokinesis. An internal motor domain displays microtubule-dependent ATPase activity, consistent with its function as a microtubule motor protein. Knockdown of this gene results in failed cytokinesis with endoreplication, which results in multinucleated cells. This gene has been identified as a likely oncogene in breast, lung and ovarian cancers, as well as retinoblastomas and gliomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMeckel syndrome 12

UniProtMicrocephaly 20, primary, autosomal recessive

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.43

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429