Identity
HGNC
LOCATION
22q12.3
LOCUSID
ALIAS
BBS19,FAP156,RABL4,RAYL
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: 11020
MIM: 615870
HGNC: 18626
Ensembl: ENSG00000100360
Variants:
dbSNP: 11020
ClinVar: 11020
TCGA: ENSG00000100360
COSMIC: IFT27
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 |
|---|---|---|---|
| 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 |
| 29704304 | 2018 | Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis. | 10 |
| 29704304 | 2018 | Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis. | 10 |
| 24488770 | 2014 | IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. | 72 |
| 24488770 | 2014 | IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. | 72 |
Citation
Dessen P
IFT27 (intraflagellar transport 27)
Atlas Genet Cytogenet Oncol Haematol. 2003-12-01
Online version: http://atlasgeneticsoncology.org/gene/42018/ift27
