IFT52 (intraflagellar transport 52)

2016-10-01  

Identity

HGNC
LOCATION
20q13.12
LOCUSID
ALIAS
C20orf9,CGI-53,NGD2,NGD5
FUSION GENES

Other Information

Locus ID:

NCBI: 51098
MIM: 617094
HGNC: 15901
Ensembl: ENSG00000101052

Variants:

dbSNP: 51098
ClinVar: 51098
TCGA: ENSG00000101052
COSMIC: IFT52

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101052ENST00000373030Q9Y366
ENSG00000101052ENST00000373039Q9Y366

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
268800182016A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.19
274661902016IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.7
310422812019Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.3
302423582018IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration.0

Citation

Dessen P

IFT52 (intraflagellar transport 52)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56439/ift52