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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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IFT22
intraflagellar transport 22
Chromosome 7 · 7q22.1
NCBI Gene: 64792Ensembl: ENSG00000128581.17HGNC: HGNC:21895UniProt: Q9H7X7
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
intraciliary transport particle Aintracellular protein transportendomembrane systemintraciliary transport particle Brheumatoid arthritisstricture or kinking of uretercleft palatecleft lip
✦AI Summary

IFT22 is a Rab-like small GTPase component of the intraflagellar transport (IFT) complex B that plays critical regulatory roles in ciliary protein transport and function 1. As an active GTPase with low intrinsic GTPase activity, IFT22 functions independently of its IFT-B1 association to regulate basal body targeting of the BBSome, a coat complex essential for compartmentalizing signaling molecules within cilia 2. Specifically, IFT22 in its GTP-bound state binds and stabilizes the BBS3 GTPase, facilitating BBSome recruitment to the basal body for coupling with IFT trains, though IFT22 is not required for subsequent intra-ciliary BBSome transport 2. IFT22 maintains stable expression in both healthy and diseased tissues, exhibiting consistent involvement in ciliary assembly and anterograde transport 3. Disease relevance extends beyond classic ciliopathies; IFT22 has emerged as a novel candidate gene associated with autism spectrum disorder, identified through brain connectivity analysis with 92% diagnostic accuracy, suggesting potential roles in neuronal development beyond canonical ciliary functions 4. These findings establish IFT22 as a key regulator of ciliary protein transport and a potential contributor to neurodevelopmental disorders.

Sources cited
1
IFT22 is a Rab-like small GTPase playing critical regulatory roles in ciliary BBSome transport
PMID: 34655445
2
IFT22 regulates basal body targeting of the BBSome through GTP-dependent binding and stabilization of BBS3
PMID: 31953262
3
IFT22 shows stable activation in ARPKD and healthy samples, indicating role in ciliary function
PMID: 40319097
4
IFT22 identified as novel ASD-related gene with potential role in brain connectivity patterns
PMID: 39417279
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
rheumatoid arthritisOpen Targets
0.24Weak
stricture or kinking of ureterOpen Targets
0.20Weak
cleft palateOpen Targets
0.05Suggestive
cleft lipOpen Targets
0.04Suggestive
breast diseaseOpen Targets
0.04Suggestive
preeclampsiaOpen Targets
0.02Suggestive
alcohol drinkingOpen Targets
0.02Suggestive
viral meningitisOpen Targets
0.02Suggestive
disorder of earOpen Targets
0.02Suggestive
Abnormal sperm morphologyOpen Targets
0.02Suggestive
neural tube defectOpen Targets
0.01Suggestive
ciliopathyOpen Targets
0.01Suggestive
prostate neoplasmOpen Targets
0.01Suggestive
autosomal recessive polycystic kidney diseaseOpen Targets
0.01Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
genetic disorderOpen Targets
0.00Suggestive
Jeune syndromeOpen Targets
0.00Suggestive
oral squamous cell carcinomaOpen Targets
0.00Suggestive
Bardet-Biedl syndromeOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
IFT88Protein interaction100%IFT140Protein interaction100%IFT38Protein interaction100%IFT54Protein interaction100%IFT172Protein interaction100%IFT81Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
89%
Ovary
58%
Lung
32%
Bone Marrow
31%
Liver
27%
Gene Interaction Network
Click a node to explore
IFT22IFT88IFT140IFT38IFT54IFT172IFT81
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H7X7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.88LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.53 [0.34–0.88]
RankingsWhere IFT22 stands among ~20K protein-coding genes
  • #12,998of 20,598
    Most Researched25
  • #7,887of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedIFT22
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Rab-like small GTPases in the regulation of ciliary Bardet-Biedl syndrome (BBS) complex transport.
PMID: 34655445
FEBS J · 2022
1.00
2
Pilot study using a discrete mathematical approach for topological analysis and ssGSEA of gene expression in autosomal recessive polycystic kidney disease.
PMID: 40319097
Sci Rep · 2025
0.80
3
Identification of the principal neuropeptide MIP and its action pathway in larval settlement of the echiuran worm Urechis unicinctus.
PMID: 38641568
BMC Genomics · 2024
0.60
4
Autism Spectrum Disorder and Atypical Brain Connectivity: Novel Insights from Brain Connectivity-Associated Genes by Combining Random Forest and Support Vector Machine Algorithm.
PMID: 39417279
OMICS · 2024
0.40
5
Intraflagellar transport protein RABL5/IFT22 recruits the BBSome to the basal body through the GTPase ARL6/BBS3.
PMID: 31953262
Proc Natl Acad Sci U S A · 2020
0.20