IFT88 (intraflagellar transport 88)

2003-02-01  

Identity

HGNC
IFT88
LOCATION
13q12.11
LOCUSID
8100
ALIAS
D13S1056E,DAF19,TG737,TTC10,hTg737
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8100
MIM: 600595
HGNC: 20606
Ensembl: ENSG00000032742

Variants:

dbSNP: 8100
ClinVar: 8100
TCGA: ENSG00000032742
COSMIC: IFT88

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000032742ENST00000319980Q13099
ENSG00000032742ENST00000351808Q13099
ENSG00000032742ENST00000351808A0A140VJL7
ENSG00000032742ENST00000389373F6SRW8
ENSG00000032742ENST00000537103F5H6C2

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
Signal TransductionREACTOMER-HSA-162582
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog 'off' stateREACTOMER-HSA-5610787

References

Pubmed IDYearTitleCitations
360849492022Multifaceted investigation underlies diverse mechanisms contributing to the downregulation of Hedgehog pathway-associated genes INTU and IFT88 in lung adenocarcinoma and uterine corpus endometrial carcinoma.2
360849492022Multifaceted investigation underlies diverse mechanisms contributing to the downregulation of Hedgehog pathway-associated genes INTU and IFT88 in lung adenocarcinoma and uterine corpus endometrial carcinoma.2
318913092020Ciliary Localization of the Intraflagellar Transport Protein IFT88 Is Disrupted in Cystic Fibrosis.4
318913092020Ciliary Localization of the Intraflagellar Transport Protein IFT88 Is Disrupted in Cystic Fibrosis.4
309534232019Association of IFT88 gene variants with nonsyndromic cleft lip with or without cleft palate.2
313120112019IFT88 controls NuMA enrichment at k-fibers minus-ends to facilitate their re-anchoring into mitotic spindles.3
309534232019Association of IFT88 gene variants with nonsyndromic cleft lip with or without cleft palate.2
313120112019IFT88 controls NuMA enrichment at k-fibers minus-ends to facilitate their re-anchoring into mitotic spindles.3
297435902018Loss-of-function of IFT88 determines metabolic phenotypes in thyroid cancer.19
298663622018Super-Resolution Imaging Reveals TCTN2 Depletion-Induced IFT88 Lumen Leakage and Ciliary Weakening.8
299783202018IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.11
297435902018Loss-of-function of IFT88 determines metabolic phenotypes in thyroid cancer.19
298663622018Super-Resolution Imaging Reveals TCTN2 Depletion-Induced IFT88 Lumen Leakage and Ciliary Weakening.8
299783202018IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.11
284895702017Transcriptome profiling identifies a recurrent CRYL1-IFT88 chimeric transcript in hepatocellular carcinoma.8

Citation

Dessen P

IFT88 (intraflagellar transport 88)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42722/gene-fusions/gene-fusions-explorer/case-report-explorer/