KIF23

Chr 15

kinesin family member 23

Also known as: CDA3, CDAIII, CDAN3, CDAN3A, CHO1, KNSL5, MKLP-1, MKLP1

NCBI Gene: 9493 ENSG00000137807 UniProt: Q02241

The protein encoded by this gene is a member of kinesin-like protein family. This family includes microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. This protein has been shown to cross-bridge antiparallel microtubules and drive microtubule movement in vitro. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Research

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAnemia, congenital dyserythropoietic, 3A

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.15

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.15LOEUF

pLI 1.000

Z-score 6.88

OE 0.06 (0.03–0.15)

Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?

2.08Z-score

OE missense 0.74 (0.69–0.81)

394 obs / 528.9 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.06 (0.03–0.15)

0≤0.351.4

Missense OE?0.74 (0.69–0.81)

0≤0.61.4

Synonymous OE?0.88

0≤1.21.6

LoF obs/exp: 4 / 62.8Missense obs/exp: 394 / 528.9Syn Z: 1.26

Background carrier burden — how many people carry a rare variant somewhere in KIF23?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 60

988 rare PASS variants

Rare truncating (LoF)

1 in 3,000

67 rare PASS variants

Rare synonymous (reference)

1 in 150

388 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for KIF23. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 88	1 in 4,000
South Asian	~43k	1 in 48	1 in 2,700
Remaining (unassigned)	~30k	1 in 55	1 in 4,900
European (Finnish)	~27k	1 in 150	≈ 1 in 6,700
Admixed American	~22k	1 in 57	1 in 750
African / African American	~21k	1 in 52	1 in 1,400
East Asian	~20k	1 in 69	1 in 2,000
Ashkenazi Jewish	~13k	1 in 170	1 in 2,000
Middle Eastern	~2,884	1 in 78	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.