KIF15

Chr 3AR

kinesin family member 15

Also known as: BRDCS2, HKLP2, KLP2, KNSL7, NY-BR-62

NCBI Gene: 56992ENSG00000163808UniProt: Q9NS87OMIM: 617569

KIF15 encodes a plus-end directed kinesin motor protein that hydrolyzes ATP to drive microtubule-based movement and is essential for mitotic spindle assembly and centrosome separation. Biallelic mutations cause Braddock-Carey syndrome 2, an autosomal recessive disorder. The gene shows tolerance to loss-of-function variants in the general population (pLI near zero), which is consistent with the recessive inheritance pattern observed in affected patients.

OMIMResearchSummary from RefSeq, OMIM, UniProt
MultiplemechanismARLOEUF 0.791 OMIM phenotype
Clinical Summary— KIF15
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
9 unique Pathogenic / Likely Pathogenic· 177 VUS of 245 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.79LOEUF
pLI 0.000
Z-score 3.15
OE 0.63 (0.50–0.79)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.57Z-score
OE missense 0.83 (0.78–0.89)
567 obs / 682.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.63 (0.50–0.79)
0≤0.351.4
Missense OE0.83 (0.78–0.89)
0≤0.61.4
Synonymous OE0.88
0≤1.21.6
LoF obs/exp: 52 / 83.0Missense obs/exp: 567 / 682.2Syn Z: 1.53
DN
0.81top 10%
GOF
0.6639th %ile
LOF
0.2581th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

245 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic6
Likely Pathogenic3
VUS177
Likely Benign17
Benign13
Conflicting1
6
Pathogenic
3
Likely Pathogenic
177
VUS
17
Likely Benign
13
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
0
5
0
6
Likely Pathogenic
2
0
1
0
3
VUS
1
173
3
0
177
Likely Benign
0
11
0
6
17
Benign
0
7
3
3
13
Conflicting
—1
Total4191129217

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

KIF15 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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