KIF22

Chr 16AD

kinesin family member 22

Also known as: A-328A3.2, KID, KNSL4, OBP, OBP-1, OBP-2, SEMDJL2

NCBI Gene: 3835ENSG00000079616UniProt: Q14807OMIM: 603213

KIF22 encodes a kinesin family motor protein that binds microtubules and DNA to facilitate spindle formation and chromosome movement during cell division. Mutations cause spondyloepimetaphyseal dysplasia with joint laxity, type 2, an autosomal dominant skeletal dysplasia affecting the spine and growth plates. The gene is highly intolerant to loss-of-function variants (pLI ~1.0), indicating complete loss of function is likely incompatible with normal development.

OMIMResearchSummary from RefSeq, OMIM, UniProt
GOFmechanismADLOEUF 0.851 OMIM phenotype
Clinical Summary— KIF22
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
50 unique Pathogenic / Likely Pathogenic· 124 VUS of 298 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
0.85LOEUF
pLI 0.000
Z-score 2.24
OE 0.59 (0.41–0.85)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.14Z-score
OE missense 0.98 (0.90–1.06)
398 obs / 406.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.59 (0.41–0.85)
0≤0.351.4
Missense OE0.98 (0.90–1.06)
0≤0.61.4
Synonymous OE1.18
0≤1.21.6
LoF obs/exp: 20 / 34.2Missense obs/exp: 398 / 406.0Syn Z: -1.82
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveKIF22-related spondyloepimetaphyseal dysplasia with joint laxityGOFAD
DN
0.7131th %ile
GOF
0.6249th %ile
LOF
0.3649th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction 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

298 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic48
Likely Pathogenic2
VUS124
Likely Benign97
Benign16
Conflicting9
48
Pathogenic
2
Likely Pathogenic
124
VUS
97
Likely Benign
16
Benign
9
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
1
47
0
48
Likely Pathogenic
0
1
1
0
2
VUS
10
105
8
1
124
Likely Benign
2
13
43
39
97
Benign
0
10
4
2
16
Conflicting
—9
Total1213010342296

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

View in ClinVar →

Protein Context — Lollipop Plot

KIF22 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

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
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