IFT172 (intraflagellar transport 172)

2016-10-01  

Identity

HGNC
IFT172
LOCATION
2p23.3
LOCUSID
26160
ALIAS
BBS20,NPHP17,RP71,SLB,SRTD10,osm-1,wim
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 26160
MIM: 607386
HGNC: 30391
Ensembl: ENSG00000138002

Variants:

dbSNP: 26160
ClinVar: 26160
TCGA: ENSG00000138002
COSMIC: IFT172

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138002ENST00000260570Q9UG01
ENSG00000138002ENST00000359466Q9UG01
ENSG00000138002ENST00000416524F5GZ56
ENSG00000138002ENST00000420854H7C161
ENSG00000138002ENST00000443889H7C252
ENSG00000138002ENST00000450564H7C186
ENSG00000138002ENST00000509128H0YAI8

Expression (GTEx)

0
10
20
30
40
50
60
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
374714162023Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.0
374714162023Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.0
333934002021Multimodal imaging of retinitis pigmentosa associated with Mainzer-Saldino syndrome.1
346747292021Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma.1
333934002021Multimodal imaging of retinitis pigmentosa associated with Mainzer-Saldino syndrome.1
346747292021Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma.1
296598332018Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects.15
296598332018Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects.15
267638752016Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.36
267638752016Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.36
251683862015Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.77
251683862015Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.77
241401132013Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.114
241401132013Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.114
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

IFT172 (intraflagellar transport 172)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/55994