IFT80 (intraflagellar transport 80)

2016-10-01  

Identity

HGNC
IFT80
LOCATION
3q25.33
LOCUSID
57560
ALIAS
ATD2,FAP167,SRTD2,WDR56
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
174687542007IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.126
196481232011Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.28
186019092008Identification and characterization of a long isoform of human IFT80, IFT80-L.2
304535042018IFT80 Improves Invasion Ability in Gastric Cancer Cell Line via ift80/p75NGFR/MMP9 Signaling.2
307673632019Mutations in IFT80 cause SRPS Type IV. Report of two families and review.1

Citation

Dessen P

IFT80 (intraflagellar transport 80)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56187/ift80