Identity
HGNC
LOCATION
2p23.3
LOCUSID
ALIAS
BBS20,NPHP17,RP71,SLB,SRTD10,osm-1,wim
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: 26160
MIM: 607386
HGNC: 30391
Ensembl: ENSG00000138002
Variants:
dbSNP: 26160
ClinVar: 26160
TCGA: ENSG00000138002
COSMIC: IFT172
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37471416 | 2023 | Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease. | 0 |
| 37471416 | 2023 | Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease. | 0 |
| 33393400 | 2021 | Multimodal imaging of retinitis pigmentosa associated with Mainzer-Saldino syndrome. | 1 |
| 34674729 | 2021 | Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma. | 1 |
| 33393400 | 2021 | Multimodal imaging of retinitis pigmentosa associated with Mainzer-Saldino syndrome. | 1 |
| 34674729 | 2021 | Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma. | 1 |
| 29659833 | 2018 | Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects. | 15 |
| 29659833 | 2018 | Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects. | 15 |
| 26763875 | 2016 | Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome. | 36 |
| 26763875 | 2016 | Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome. | 36 |
| 25168386 | 2015 | Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. | 77 |
| 25168386 | 2015 | Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. | 77 |
| 24140113 | 2013 | Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. | 114 |
| 24140113 | 2013 | Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. | 114 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
Citation
Dessen P
IFT172 (intraflagellar transport 172)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/55994/ift172-(intraflagellar-transport-172)
