KIF26B

Chr 1

kinesin family member 26B

NCBI Gene: 55083 ENSG00000162849 UniProt: Q2KJY2 OMIM: 614026

KIF26B encodes an intracellular motor protein that transports organelles along microtubules and is essential for embryonic kidney development by maintaining mesenchymal cell adhesion adjacent to ureteric buds. Mutations cause congenital anomalies of the kidney and urinary tract (CAKUT) with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants, indicating that biallelic mutations typically result in severe developmental kidney abnormalities.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is an intracellular motor protein thought to transport organelles along microtubules. The encoded protein is required for kidney development. Elevated levels of this protein have been found in some breast and colorectal cancers. [provided by RefSeq, Mar 2017]

OMIM ResearchGenerating clinical summary…

LOFmechanismLOEUF 0.21

Clinical Summary— KIF26B

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

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ClinVar Variants

1 unique Pathogenic / Likely Pathogenic· 344 VUS of 490 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.21LOEUF

pLI 1.000

Z-score 6.50

OE 0.11 (0.06–0.21)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

0.95Z-score

OE missense 0.92 (0.88–0.97)

1150 obs / 1244.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.11 (0.06–0.21)

0≤0.351.4

Missense OE?0.92 (0.88–0.97)

0≤0.61.4

Synonymous OE?1.09

0≤1.21.6

LoF obs/exp: 7 / 62.3Missense obs/exp: 1150 / 1244.0Syn Z: -1.78

This gene — mechanism propensity

0.4884th %ile

GOF

0.4579th %ile

LOF

0.73top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.21

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

490 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1

VUS344

Likely Benign70

Benign44

Conflicting2

Pathogenic

344

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	1	0	0	0	1
Likely Pathogenic	0	0	0	0	0
VUS	0	342	2	0	344
Likely Benign	0	30	1	39	70
Benign	0	15	3	26	44
Conflicting	—				2
Total	1	387	6	65	461

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

View in ClinVar →

93 pathogenic / likely-pathogenic (of 132) ClinVar copy-number / structural variants overlap KIF26B — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →