KIF5B

Chr 10AD

kinesin family member 5B

Also known as: HEL-S-61, KDII, KINH, KNS, KNS1, UKHC

NCBI Gene: 3799 ENSG00000170759 UniProt: P33176 OMIM: 602809

The protein encoded by this gene is a microtubule-dependent motor that transports mitochondria, lysosomes, and other cellular components, and is essential for proper axonal transport and organelle positioning. Mutations cause autosomal dominant spastic paraplegia and other neurodegenerative disorders affecting motor function. This gene is highly constrained against loss-of-function variants, indicating that even single functional copies are critical for normal cellular function.

OMIM ResearchSummary from RefSeq, UniProt

Enables identical protein binding activity; microtubule binding activity; and microtubule motor activity. Involved in several processes, including natural killer cell mediated cytotoxicity; positive regulation of potassium ion transport; and positive regulation of protein localization to plasma membrane. Located in cytosol and vesicle. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Kyphomelic dysplasia, Itai-Ikegawa typeMIM #621644

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Kyphomelic dysplasia, Itai-Ikegawa type; no ClinGen or GenCC tier

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in KIF5B?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 130

846 rare PASS variants

Rare truncating (LoF)

1 in 2,100

142 rare PASS variants

Rare synonymous (reference)

1 in 170

384 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for KIF5B. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 160	1 in 2,000
South Asian	~43k	1 in 130	1 in 2,600
Remaining (unassigned)	~30k	1 in 110	1 in 790
European (Finnish)	~27k	1 in 280	1 in 1,400
Admixed American	~22k	1 in 83	1 in 2,000
African / African American	~21k	1 in 82	1 in 2,000
East Asian	~20k	1 in 130	1 in 4,000
Ashkenazi Jewish	~13k	1 in 290	1 in 1,500
Middle Eastern	~2,884	1 in 140	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 18 of 25 coding exons well covered in gnomAD exomes; exons 3, 4, 5, 6, 17 and 2 more marginal. Genomes: all 25.? see exons ↓

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KIF5B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox

AI-powered variant curation and clinical analysis

DECIPHER

Genomic variants and phenotypes in rare disease patients

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

Non-Small Cell Lung Cancer

Cabozantinib in Patients With RET Fusion-Positive Advanced Non-Small Cell Lung Cancer and Those With Other Genotypes: ROS1 or NTRK Fusions or Increased MET or AXL Activity

RECRUITING

NCT01639508Phase PHASE2Memorial Sloan Kettering Cancer CenterStarted 2012-07

Cabozantinib

Clinical Literature

Open Research Assistant →

Landmark / reviewRecent case evidence

Key Publications

Landmark & review papers · by relevance

PubMed

De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.

Itai T et al.·Clin Genet

2022