IFT80 (intraflagellar transport 80)

2016-10-01 Affiliation

Identity

HGNC

IFT80

LOCATION

3q25.33

LOCUSID

57560

ALIAS

ATD2,FAP167,SRTD2,WDR56

FUSION GENES

Show Gene Fusions

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: 57560
MIM: 611177
HGNC: 29262
Ensembl: ENSG00000068885

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000068885	ENST00000326448	Q9P2H3
ENSG00000068885	ENST00000465537	C9IZR2
ENSG00000068885	ENST00000468218	C9J6I5
ENSG00000068885	ENST00000472555	H7C5P3
ENSG00000068885	ENST00000475677	C9JUJ1
ENSG00000068885	ENST00000478370	C9J6G8
ENSG00000068885	ENST00000478536	C9JUI1
ENSG00000068885	ENST00000482317	F8WCB0
ENSG00000068885	ENST00000483325	H7C4K6
ENSG00000068885	ENST00000483465	Q9P2H3
ENSG00000068885	ENST00000484963	H7C5M3
ENSG00000068885	ENST00000486856	C9J6G8
ENSG00000068885	ENST00000489004	C9J627
ENSG00000068885	ENST00000496589	Q9P2H3
ENSG00000068885	ENST00000498409	C9JSB1

Expression (GTEx)

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

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)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
30767363	2019	Mutations in IFT80 cause SRPS Type IV. Report of two families and review.	2
30767363	2019	Mutations in IFT80 cause SRPS Type IV. Report of two families and review.	2
30453504	2018	IFT80 Improves Invasion Ability in Gastric Cancer Cell Line via ift80/p75NGFR/MMP9 Signaling.	8
30453504	2018	IFT80 Improves Invasion Ability in Gastric Cancer Cell Line via ift80/p75NGFR/MMP9 Signaling.	8
19648123	2011	Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.	35
19648123	2011	Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.	35
18601909	2008	Identification and characterization of a long isoform of human IFT80, IFT80-L.	3
18601909	2008	Identification and characterization of a long isoform of human IFT80, IFT80-L.	3
17468754	2007	IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.	150
17468754	2007	IFT80, 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/css/teaching-explorer/case-report-explorer/