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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
IFT57
intraflagellar transport 57
Chromosome 3 Β· 3q13.12-q13.13
NCBI Gene: 55081Ensembl: ENSG00000114446.6HGNC: HGNC:17367UniProt: Q9NWB7
49PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
ApoptosisTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingintraciliary transport particle Aapoptotic processphotoreceptor connecting ciliumorofaciodigital syndrome 18orofaciodigital syndromesmoking cessationnutritional deficiency disease
✦AI Summary

IFT57 is an essential intraflagellar transport protein required for primary cilium formation and maintenance 1. As a component of IFT complex B, IFT57 facilitates anterograde transport of cargo proteins from the ciliary base to the tip 2. IFT57 regulates kinesin II dissociation from IFT particles, enabling efficient ciliary protein transport 1. Beyond ciliogenesis, IFT57 participates in sonic hedgehog signaling, which depends on intact primary cilia 3, and localizes G protein-coupled receptors including dopamine receptor DRD1 to cilia 4. IFT57 possesses pro-apoptotic functions through interaction with HIP1, recruiting caspase-8 5. Mutations in IFT57 cause ciliopathies, including orofaciodigital syndrome with skeletal dysplasia 3 and Bardet-Biedl syndrome characterized by retinal degeneration, polydactyly, and obesity 2. IFT57 disruption also impairs TRAF7-mediated cilia maintenance, contributing to meningiomas and congenital heart defects 6. Emerging evidence suggests IFT57 dysregulation associates with neurodevelopmental conditions; altered IFT57 expression correlates with attention-deficit/hyperactivity disorder pathophysiology 7. Additionally, IFT57 coregulation with CD47 influences cancer survival outcomes across multiple tumor types 8.

Sources cited
1
IFT57 variants cause Bardet-Biedl syndrome with retinal degeneration and polydactyly; IFT57 is part of IFT complex B mediating anterograde transport
PMID: 40273360
2
IFT57 is required for efficient ciliary transport and regulates kinesin II dissociation from IFT particles in photoreceptors
PMID: 18492793
3
Homozygous IFT57 mutation causes orofaciodigital syndrome with ciliary transport defect and impaired sonic hedgehog signaling
PMID: 27060890
4
TRAF7-IFT57 interactions are disrupted in meningiomas and congenital heart defects, leading to cilia degradation
PMID: 37043537
5
IFT57 mRNA expression is altered in attention-deficit/hyperactivity disorder and correlates with white matter microstructural features
PMID: 38412785
6
IFT57 is coexpressed with CD47 across cancer types and regulates survival through CRACD-mediated cytoskeletal signaling
PMID: 39201643
7
IFT57 can translocate to the nucleus and regulate gene expression in mammalian cells
PMID: 28474836
8
IFT57 mutations implicate intraflagellar transport defects in oral-facial-digital syndromes as part of broader ciliopathy heterogeneity
PMID: 28289185
Disease Associationsβ“˜21
orofaciodigital syndrome 18Open Targets
0.51Moderate
orofaciodigital syndromeOpen Targets
0.37Weak
smoking cessationOpen Targets
0.32Weak
nutritional deficiency diseaseOpen Targets
0.31Weak
neurodegenerative diseaseOpen Targets
0.26Weak
mixed connective tissue diseaseOpen Targets
0.26Weak
smoking initiationOpen Targets
0.18Weak
enteritisOpen Targets
0.16Weak
Bardet-Biedl syndromeOpen Targets
0.15Weak
celiac diseaseOpen Targets
0.12Weak
non-small cell lung carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
Huntington diseaseOpen Targets
0.05Suggestive
Tel Hashomer camptodactyly syndromeOpen Targets
0.05Suggestive
ulnar hemimeliaOpen Targets
0.04Suggestive
spondyloepimetaphyseal dysplasia with multiple dislocationsOpen Targets
0.04Suggestive
congenital vertical talusOpen Targets
0.04Suggestive
liver diseaseOpen Targets
0.04Suggestive
hydrolethalus syndrome 2Open Targets
0.04Suggestive
Orofaciodigital syndrome 18UniProt
Pathogenic Variants2
NM_018010.4(IFT57):c.585+3A>GLikely pathogenic
Orofaciodigital syndrome 18
β˜…β˜…β˜†β˜†2024
NM_018010.4(IFT57):c.777G>A (p.Lys259=)Pathogenic
Orofaciodigital syndrome 18
β˜†β˜†β˜†β˜†2019β†’ Residue 259
View on ClinVar β†—
Related Genes
IFT22Protein interaction100%IFT140Protein interaction100%IFT27Protein interaction100%IFT38Protein interaction100%IFT54Protein interaction100%IFT81Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
74%
Ovary
48%
Heart
42%
Brain
29%
Liver
11%
Gene Interaction Network
Click a node to explore
IFT57IFT22IFT140IFT27IFT38IFT54IFT81
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9NWB7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.43LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.01 [0.73–1.43]
RankingsWhere IFT57 stands among ~20K protein-coding genes
  • #8,957of 20,598
    Most Researched49
  • #4,439of 5,498
    Most Pathogenic Variants2
  • #14,678of 17,882
    Most Constrained (LOEUF)1.43
Genes detectedIFT57
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease.
PMID: 37043537
Proc Natl Acad Sci U S A Β· 2023
1.00
2
Defective IFT57 underlies a novel cause of Bardet-Biedl syndrome.
PMID: 40273360
Hum Mol Genet Β· 2025
0.90
3
PMID: 39201643
Int J Mol Sci Β· 2024
0.80
4
The Ciliary Protein IFT57 in the Macronucleus of Paramecium.
PMID: 28474836
J Eukaryot Microbiol Β· 2018
0.70
5
Human transcriptome array analysis and diffusion tensor imaging in attention-deficit/hyperactivity disorder.
PMID: 38412785
J Psychiatr Res Β· 2024
0.60