KIF26A

Chr 14AR

kinesin family member 26A

Also known as: CDCBM11

NCBI Gene: 26153ENSG00000066735UniProt: Q9ULI4

Predicted to enable microtubule binding activity. Involved in cerebral cortex development; regulation of neuron migration; and regulation of neuron projection development. Predicted to be located in cytosol. Implicated in complex cortical dysplasia with other brain malformations. [provided by Alliance of Genome Resources, Jul 2025]

Primary Disease Associations & Inheritance

Cortical dysplasia, complex, with other brain malformations 11MIM #620156
AR
645
ClinVar variants
65
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— KIF26A
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.31) despite low pLI — interpret in context.
📋
ClinVar Variants
65 Pathogenic / Likely Pathogenic· 507 VUS of 645 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
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.
0.47LOEUF
pLI 0.001
Z-score 4.62
OE 0.31 (0.21–0.47)
Moderately constrained

More LoF-intolerant than ~75% of genes

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.
0.09Z-score
OE missense 0.99 (0.94–1.04)
1119 obs / 1127.4 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.0.31 (0.21–0.47)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.99 (0.94–1.04)
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.1.14
0≤1.21.6
LoF obs/exp: 16 / 51.9Missense obs/exp: 1119 / 1127.4Syn Z: -2.46

ClinVar Variant Classifications

645 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic60
Likely Pathogenic5
VUS507
Likely Benign53
Benign4
Conflicting2
60
Pathogenic
5
Likely Pathogenic
507
VUS
53
Likely Benign
4
Benign
2
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
3
2
55
0
60
Likely Pathogenic
2
0
3
0
5
VUS
1
495
11
0
507
Likely Benign
0
25
0
28
53
Benign
0
0
0
4
4
Conflicting
—2
Total65226932631

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

View in ClinVar →

Protein Context — Lollipop Plot

KIF26A · 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

Cortical dysplasia, complex, with other brain malformations 11

MIM #620156

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK et al.·JAMA Neurol
2023Functional
Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects.
Nosrati MSS et al.·Clin Genet
2025Case report
MiR-19a/miR-96-mediated low expression of KIF26A suppresses metastasis by regulating FAK pathway in gastric cancer.
Ma RR et al.·Oncogene
2021
KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.
Almannai M et al.·Hum Genet
2023
Congenital cranial dysinnervation disorder with homozygous KIF26A variant.
Gregg AT et al.·J AAPOS
2024Case report
Prediction of Patients With High-Risk Osteosarcoma on the Basis of XGBoost Algorithm Using Transcriptome and Methylation Data From SGH-OS Cohort.
Zhao W et al.·JCO Precis Oncol
2025Cohort
Familial chronic megacolon presenting in childhood or adulthood: Seeking the presumed gene association.
Camilleri M et al.·Neurogastroenterol Motil
2019
Whole-exome sequencing analysis in twin sibling males with an anterior cruciate ligament rupture.
Caso E et al.·Injury
2016
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
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