IFT80 (intraflagellar transport 80)

2016-10-01  

Identity

HGNC
LOCATION
3q25.33
LOCUSID
ALIAS
ATD2,FAP167,SRTD2,WDR56
FUSION GENES

Other Information

Locus ID:

NCBI: 57560
MIM: 611177
HGNC: 29262
Ensembl: ENSG00000068885

Variants:

dbSNP: 57560
ClinVar: 57560
TCGA: ENSG00000068885
COSMIC: IFT80

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000068885ENST00000326448Q9P2H3
ENSG00000068885ENST00000465537C9IZR2
ENSG00000068885ENST00000468218C9J6I5
ENSG00000068885ENST00000472555H7C5P3
ENSG00000068885ENST00000475677C9JUJ1
ENSG00000068885ENST00000478370C9J6G8
ENSG00000068885ENST00000478536C9JUI1
ENSG00000068885ENST00000482317F8WCB0
ENSG00000068885ENST00000483325H7C4K6
ENSG00000068885ENST00000483465Q9P2H3
ENSG00000068885ENST00000484963H7C5M3
ENSG00000068885ENST00000486856C9J6G8
ENSG00000068885ENST00000489004C9J627
ENSG00000068885ENST00000496589Q9P2H3
ENSG00000068885ENST00000498409C9JSB1

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Intraflagellar transportREACTOMER-HSA-5620924

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
307673632019Mutations in IFT80 cause SRPS Type IV. Report of two families and review.2
307673632019Mutations in IFT80 cause SRPS Type IV. Report of two families and review.2
304535042018IFT80 Improves Invasion Ability in Gastric Cancer Cell Line via ift80/p75NGFR/MMP9 Signaling.8
304535042018IFT80 Improves Invasion Ability in Gastric Cancer Cell Line via ift80/p75NGFR/MMP9 Signaling.8
196481232011Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.35
196481232011Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.35
186019092008Identification and characterization of a long isoform of human IFT80, IFT80-L.3
186019092008Identification and characterization of a long isoform of human IFT80, IFT80-L.3
174687542007IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.150
174687542007IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.150

Citation

Dessen P

IFT80 (intraflagellar transport 80)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56187/meetings/img/js/web-card-gene.js