Identity
HGNC
LOCATION
14q24.3
LOCUSID
ALIAS
C14orf179,CED3,RP81,SRTD18
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: 112752
MIM: 614068
HGNC: 29669
Ensembl: ENSG00000119650
Variants:
dbSNP: 112752
ClinVar: 112752
TCGA: ENSG00000119650
COSMIC: IFT43
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 |
|---|---|---|---|
| 28973684 | 2017 | A mutation in IFT43 causes non-syndromic recessive retinal degeneration. | 7 |
| 28973684 | 2017 | A mutation in IFT43 causes non-syndromic recessive retinal degeneration. | 7 |
| 26740177 | 2016 | CED-4 is an mRNA-binding protein that delivers ced-3 mRNA to ribosomes. | 2 |
| 26740177 | 2016 | CED-4 is an mRNA-binding protein that delivers ced-3 mRNA to ribosomes. | 2 |
| 21378380 | 2011 | C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. | 78 |
| 21378380 | 2011 | C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. | 78 |
Citation
Dessen P
IFT43 (intraflagellar transport 43)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64534/ift43-(intraflagellar-transport-43)
