HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
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.
IFT52
intraflagellar transport 52
Chromosome 20 Β· 20q13.12
NCBI Gene: 51098Ensembl: ENSG00000101052.14HGNC: HGNC:15901UniProt: Q9Y366
31PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingintraciliary anterograde transportcilium assemblyphotoreceptor connecting ciliumshort-rib thoracic dysplasia 16 with or without polydactylyshort rib-polydactyly syndromeshort rib dysplasiaJeune syndrome
✦AI Summary

IFT52 is a core component of the intraflagellar transport (IFT)-B complex essential for ciliogenesis and ciliary function 1. It mediates bidirectional cargo transport along the ciliary axoneme by stabilizing the interaction between IFT-B1 and IFT-B2 subcomplexes and facilitating binding to kinesin-II motors 2. IFT52 is required for anterograde transport of ciliary proteins including IFT88, ensuring proper cilia assembly, maintenance, and length regulation 1. Beyond its canonical ciliary role, IFT52 regulates microtubule dynamics and centrosome cohesion through interactions with centrin at centrioles 3. Pathogenic variants disrupt IFT-B complex assembly and reduce ciliary IFT-B levels, impairing localization of cargo proteins like ICK/CILK1 and KIF17 to ciliary tips 2. IFT52 mutations cause short-rib thoracic dysplasia 16 with or without polydactyly (SRTD16), a skeletal ciliopathy characterized by thoracic and limb abnormalities 3. IFT52 variants are also associated with retinal degeneration and Leber congenital amaurosis through disruption of photoreceptor ciliary function 4. Phenotype severity correlates with mutation type: missense mutations impair complex assembly and cilia length, while nonsense mutations produce partially functional proteins 3. IFT52 dysfunction affects osteogenic differentiation and sensory neuronal development, highlighting its importance in skeletal and sensory system development 5.

Sources cited
1
IFT52 is a component of the anterograde IFT complex required for cilia assembly and IFT88 transport
PMID: 27466190
2
IFT52 variants compromise IFT-B holocomplex formation and kinesin-II binding, reducing ciliary IFT-B levels in SRPS
PMID: 35704471
3
IFT52 mutations cause SRTD or CAKUT through impaired IFT-B complex assembly and novel microtubule/centrosome functions
PMID: 31042281
4
IFT52 mutations cause retinal ciliopathy and Leber congenital amaurosis through disrupted cilia elongation
PMID: 30242358
5
IFT52 is essential for osteogenic differentiation and sensory neuronal ciliary function in skeletal development
PMID: 35839863
Disease Associationsβ“˜21
short-rib thoracic dysplasia 16 with or without polydactylyOpen Targets
0.73Strong
short rib-polydactyly syndromeOpen Targets
0.50Moderate
short rib dysplasiaOpen Targets
0.38Weak
Jeune syndromeOpen Targets
0.37Weak
cranioectodermal dysplasiaOpen Targets
0.37Weak
type 2 diabetes mellitusOpen Targets
0.32Weak
pathological myopiaOpen Targets
0.24Weak
autoimmune lymphoproliferative syndrome type 2BOpen Targets
0.05Suggestive
Autoimmune lymphoproliferative syndrome with recurrent viral infectionsOpen Targets
0.05Suggestive
ciliopathyOpen Targets
0.02Suggestive
age-related macular degenerationOpen Targets
0.01Suggestive
Short ribsOpen Targets
0.01Suggestive
retinal degenerationOpen Targets
0.01Suggestive
retinal ciliopathyOpen Targets
0.01Suggestive
peripheral neuropathyOpen Targets
0.01Suggestive
Leber congenital amaurosisOpen Targets
0.00Suggestive
gastrointestinal stromal tumorOpen Targets
0.00Suggestive
intrahepatic cholangiocarcinomaOpen Targets
0.00Suggestive
Merkel cell skin cancerOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
Short-rib thoracic dysplasia 16 with or without polydactylyUniProt
Pathogenic Variants7
NM_016004.5(IFT52):c.595G>A (p.Ala199Thr)Likely pathogenic
Short-rib thoracic dysplasia 16 with or without polydactyly|Short rib-polydactyly syndrome|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 199
NM_016004.5(IFT52):c.820C>T (p.Arg274Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 274
NM_016004.5(IFT52):c.424C>T (p.Arg142Ter)Pathogenic
Short-rib thoracic dysplasia 16 with or without polydactyly
β˜…β˜†β˜†β˜†β†’ Residue 142
NM_016004.5(IFT52):c.695_699delinsCA (p.Ile232_Met233delinsThr)Pathogenic
Short-rib thoracic dysplasia 16 with or without polydactyly
β˜†β˜†β˜†β˜†2020β†’ Residue 232
NM_016004.5(IFT52):c.293A>G (p.Asn98Ser)Pathogenic
Short-rib thoracic dysplasia 16 with or without polydactyly
β˜†β˜†β˜†β˜†2020β†’ Residue 98
NM_016004.5(IFT52):c.556A>G (p.Thr186Ala)Pathogenic
Short-rib thoracic dysplasia 16 with or without polydactyly
β˜†β˜†β˜†β˜†2020β†’ Residue 186
NM_016004.5(IFT52):c.878del (p.Leu293fs)Pathogenic
Short-rib thoracic dysplasia 16 with or without polydactyly|Short rib-polydactyly syndrome
β˜†β˜†β˜†β˜†2016β†’ Residue 293
View on ClinVar β†—
Related Genes
IFT70BProtein interaction100%KIF3BProtein interaction100%IFT140Protein interaction100%IFT38Protein interaction100%IFT54Protein interaction100%BBS1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
76%
Ovary
70%
Lung
32%
Heart
26%
Liver
14%
Gene Interaction Network
Click a node to explore
IFT52IFT70BKIF3BIFT140IFT38IFT54BBS1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9Y366
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.12LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.80 [0.58–1.12]
RankingsWhere IFT52 stands among ~20K protein-coding genes
  • #11,728of 20,598
    Most Researched31
  • #3,247of 5,498
    Most Pathogenic Variants7
  • #11,473of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedIFT52
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 24027799
1.00
2
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.
PMID: 31042281
Hum Mol Genet Β· 2019
0.90
3
Molecular basis underlying the ciliary defects caused by
PMID: 35704471
Mol Biol Cell Β· 2022
0.80
4
The emerging functions of intraflagellar transport 52 in ciliary transport and ciliopathies.
PMID: 38272449
Traffic Β· 2024
0.70
5
IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration.
PMID: 30242358
Invest Ophthalmol Vis Sci Β· 2018
0.60