Identity
HGNC
LOCATION
9p21.2
LOCUSID
ALIAS
CCDC2,CMG-1,CMG1
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: 80173
MIM: 608040
HGNC: 21424
Ensembl: ENSG00000096872
Variants:
dbSNP: 80173
ClinVar: 80173
TCGA: ENSG00000096872
COSMIC: IFT74
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Organelle biogenesis and maintenance | REACTOME | R-HSA-1852241 |
| Cilium Assembly | REACTOME | R-HSA-5617833 |
| Intraflagellar transport | REACTOME | R-HSA-5620924 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37315079 | 2023 | IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans. | 4 |
| 37555648 | 2023 | Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations. | 1 |
| 37315079 | 2023 | IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans. | 4 |
| 37555648 | 2023 | Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations. | 1 |
| 34888642 | 2022 | Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome. | 14 |
| 34888642 | 2022 | Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome. | 14 |
| 33531668 | 2021 | Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome. | 18 |
| 33689014 | 2021 | A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome. | 13 |
| 33748949 | 2021 | Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74. | 8 |
| 33531668 | 2021 | Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome. | 18 |
| 33689014 | 2021 | A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome. | 13 |
| 33748949 | 2021 | Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74. | 8 |
| 23990561 | 2013 | Molecular basis of tubulin transport within the cilium by IFT74 and IFT81. | 169 |
| 23990561 | 2013 | Molecular basis of tubulin transport within the cilium by IFT74 and IFT81. | 169 |
| 17383054 | 2008 | Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis. | 5 |
Citation
Dessen P
IFT74 (intraflagellar transport 74)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56478/ift74-(intraflagellar-transport-74)
