KIF20A

Chr 5AR

kinesin family member 20A

Also known as: MKLP2, RAB6KIFL, RCM6

NCBI Gene: 10112ENSG00000112984UniProt: O95235

Enables protein kinase binding activity. Involved in microtubule bundle formation; midbody abscission; and regulation of cytokinesis. Located in several cellular components, including cleavage furrow; midbody; and mitotic spindle. Implicated in familial restrictive cardiomyopathy 6. [provided by Alliance of Genome Resources, Jul 2025]

Primary Disease Associations & Inheritance

?Cardiomyopathy, familial restrictive, 6MIM #619433
AR
587
ClinVar variants
15
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— KIF20A
🧬
Gene-Disease Validity (ClinGen)
congenital heart disease · ARLimited

Limited evidence — not for standalone diagnostic reporting

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
15 Pathogenic / Likely Pathogenic· 358 VUS of 587 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.74LOEUF
pLI 0.000
Z-score 3.10
OE 0.54 (0.40–0.74)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.28Z-score
OE missense 0.84 (0.77–0.91)
414 obs / 494.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.54 (0.40–0.74)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.84 (0.77–0.91)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.99
0≤1.21.6
LoF obs/exp: 29 / 53.4Missense obs/exp: 414 / 494.3Syn Z: 0.12

ClinVar Variant Classifications

587 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic14
Likely Pathogenic1
VUS358
Likely Benign194
Benign18
Conflicting2
14
Pathogenic
1
Likely Pathogenic
358
VUS
194
Likely Benign
18
Benign
2
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
0
13
0
14
Likely Pathogenic
0
0
1
0
1
VUS
15
301
37
5
358
Likely Benign
0
6
93
95
194
Benign
0
3
8
7
18
Conflicting
—2
Total16310152107587

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

View in ClinVar →

Protein Context — Lollipop Plot

KIF20A · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

?Cardiomyopathy, familial restrictive, 6

MIM #619433

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Prognostic significance of KIF2A and KIF20A expression in human cancer: A systematic review and meta-analysis.
Li X et al.·Medicine (Baltimore)
2019Meta-analysis
Inhibition of KIF20A enhances the immunotherapeutic effect of hepatocellular carcinoma by enhancing c-Myc ubiquitination.
Chen S et al.·Cancer Lett
2024
Bulk- and single cell-RNA sequencing reveal KIF20A as a key driver of hepatocellular carcinoma progression and immune evasion.
Su Z et al.·Front Immunol
2024
Recent Advances in the Application of Cucurbitacin B as an Anticancer Agent.
Yin D et al.·Int J Mol Sci
2025Review
A novel predictive model and therapeutic potential of quercetin derivatives in chronic kidney disease progression.
Xing J et al.·Biochem Pharmacol
2025Functional
KIF20A Promotes CRC Progression and the Warburg Effect through the C-Myc/HIF-1α Axis.
Wu M et al.·Protein Pept Lett
2024
Aberrant KIF20A Expression Is Associated with Adverse Clinical Outcome and Promotes Tumor Progression in Prostate Cancer.
Zhang Z et al.·Dis Markers
2019
Clinical Trial of a Cancer Vaccine Targeting VEGF and KIF20A in Advanced Biliary Tract Cancer.
Murahashi M et al.·Anticancer Res
2021Clinical trial
Functional analysis of KIF20A, a potential immunotherapeutic target for glioma.
Saito K et al.·J Neurooncol
2017Functional
Overexpression of KIF20A confers malignant phenotype of lung adenocarcinoma by promoting cell proliferation and inhibiting apoptosis.
Zhao X et al.·Cancer Med
2018
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Correction to "KIF20A Affects the Prognosis of Bladder Cancer by Promoting the Proliferation and Metastasis of Bladder Cancer Cells".
·Dis Markers
2026🔓 Open Access
FOXK1 induced upregulation of KIF20A promotes hepatocellular carcinoma progression via Wnt/β-Catenin/EMT signaling.
Liu J et al.·Cell Mol Life Sci
2026🔓 Open Access
KIF20A drives epithelial cell proliferation and migration in gastric adenocarcinoma, facilitating macrophage M2 polarization and subsequent immune evasion.
Hu H et al.·Int J Biol Macromol
2026
KIF20A inhibits TRIM21-dependent ubiquitination of DHX9 to boost SOX2 stability, enhancing OSCC stemness and ferroptosis resistance.
Zhang Z et al.·Cell Death Dis
2026🔓 Open Access
Targeting KIF20A: a new frontier in cancer treatment revealed by multi-omics analysis.
Zhang J et al.·Front Immunol
2026🔓 Open Access
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools