KIF11

Chr 10

kinesin family member 11

Also known as: EG5, HKSP, KNSL1, MCLMR, TRIP5

NCBI Gene: 3832 ENSG00000138160 UniProt: P52732

This protein is a motor protein essential for mitotic spindle dynamics, chromosome positioning, and centrosome separation during cell division. Mutations cause microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability through autosomal dominant inheritance. The gene is highly intolerant to loss-of-function variants, indicating mutations can cause disease through haploinsufficiency or other mechanisms that disrupt normal mitotic processes.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a motor protein that belongs to the kinesin-like protein family. Members of this protein family are known to be involved in various kinds of spindle dynamics. The function of this gene product includes chromosome positioning, centrosome separation and establishing a bipolar spindle during cell mitosis. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMicrocephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development

Clinical highlights

Gene-disease validity (ClinGen)

microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability · ADDefinitivesufficient evidence for diagnostic panels

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

132

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.12

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)