KIF19

Chr 17

kinesin family member 19

Also known as: KIF19A

NCBI Gene: 124602ENSG00000196169UniProt: Q2TAC6

The protein is a plus end-directed microtubule motor that regulates motile cilia length by depolymerizing microtubules at ciliary tips through ATP hydrolysis. Mutations cause ciliary dysfunction disorders through a dominant-negative mechanism. The inheritance pattern is not established from the available data.

Summary from RefSeq, UniProt, Mechanism
Research Assistant →
0
Active trials
3
Pubs (1 yr)
13
P/LP submissions
8%
P/LP missense
0.97
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— KIF19
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
13 unique Pathogenic / Likely Pathogenic· 204 VUS of 250 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
0.97LOEUF
pLI 0.000
Z-score 1.72
OE 0.73 (0.55–0.97)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.01Z-score
OE missense 1.00 (0.93–1.07)
619 obs / 620.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.73 (0.55–0.97)
0≤0.351.4
Missense OE1.00 (0.93–1.07)
0≤0.61.4
Synonymous OE0.84
0≤1.21.6
LoF obs/exp: 33 / 45.5Missense obs/exp: 619 / 620.0Syn Z: 2.01
DN
0.7325th %ile
GOF
0.7126th %ile
LOF
0.4135th %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

250 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic12
Likely Pathogenic1
VUS204
Likely Benign19
Benign9
Conflicting1
12
Pathogenic
1
Likely Pathogenic
204
VUS
19
Likely Benign
9
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
1
11
0
12
Likely Pathogenic
0
0
1
0
1
VUS
0
204
0
0
204
Likely Benign
0
9
7
3
19
Benign
0
1
7
1
9
Conflicting
—1
Total0215264246

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

View in ClinVar →

Protein Context — Lollipop Plot

KIF19 · protein map & ClinVar variants

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

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

No open access results found

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