Identity
HGNC
LOCATION
20q13.12
LOCUSID
ALIAS
C20orf9,CGI-53,NGD2,NGD5
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 51098
MIM: 617094
HGNC: 15901
Ensembl: ENSG00000101052
Variants:
dbSNP: 51098
ClinVar: 51098
TCGA: ENSG00000101052
COSMIC: IFT52
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000101052 | ENST00000373030 | Q9Y366 |
| ENSG00000101052 | ENST00000373039 | Q9Y366 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38272449 | 2024 | The emerging functions of intraflagellar transport 52 in ciliary transport and ciliopathies. | 1 |
| 38272449 | 2024 | The emerging functions of intraflagellar transport 52 in ciliary transport and ciliopathies. | 1 |
| 35704471 | 2022 | Molecular basis underlying the ciliary defects caused by IFT52 variations found in skeletal ciliopathies. | 2 |
| 35839863 | 2022 | The intraflagellar transport protein IFT52 associated with short-rib thoracic dysplasia is essential for ciliary function in osteogenic differentiation in vitro and for sensory perception in Drosophila. | 2 |
| 35704471 | 2022 | Molecular basis underlying the ciliary defects caused by IFT52 variations found in skeletal ciliopathies. | 2 |
| 35839863 | 2022 | The intraflagellar transport protein IFT52 associated with short-rib thoracic dysplasia is essential for ciliary function in osteogenic differentiation in vitro and for sensory perception in Drosophila. | 2 |
| 31042281 | 2019 | Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion. | 14 |
| 31042281 | 2019 | Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion. | 14 |
| 30242358 | 2018 | IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration. | 5 |
| 30242358 | 2018 | IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration. | 5 |
| 26880018 | 2016 | A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. | 27 |
| 27466190 | 2016 | IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. | 19 |
| 26880018 | 2016 | A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. | 27 |
| 27466190 | 2016 | IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. | 19 |
Citation
Dessen P
IFT52 (intraflagellar transport 52)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56439/tumors-explorer/new-content/
