KIF22

Chr 16

kinesin family member 22

Also known as: A-328A3.2, KID, KNSL4, OBP, OBP-1, OBP-2, SEMDJL2

NCBI Gene: 3835 ENSG00000079616 UniProt: Q14807

KIF22 encodes a kinesin family motor protein that binds microtubules and DNA to facilitate spindle formation and chromosome movement during cell division. Mutations cause spondyloepimetaphyseal dysplasia with joint laxity, type 2, an autosomal dominant skeletal dysplasia affecting the spine and growth plates. The gene is highly intolerant to loss-of-function variants (pLI ~1.0), indicating complete loss of function is likely incompatible with normal development.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. The C-terminal half of this protein has been shown to bind DNA. Studies with the Xenopus homolog suggests its essential role in metaphase chromosome alignment and maintenance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpondyloepimetaphyseal dysplasia with joint laxity, 2

Clinical highlights

Interpreting a novel variant

Gain of function 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)

—

P/LP submissions

—

P/LP missense

0.85

LOEUF

GOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429