IFT172

intraflagellar transport 172

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000138002
UniProt:
Q9UG01
OMIM:
607386
Synonyms:
BBS20, NPHP17, OSM-1, SLB, WIM

Cilia effects upon perturbation of IFT172

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia
Overexpression effect:
No effect

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-4.09) PMID:29459680
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=169, lfc=-1.62) PMID:30270045

Phenotypes

Mouse phenotype:
abnormal allantois morphology, abnormal embryo development, edema, embryonic lethality prior to tooth bud stage, hemorrhage, abnormal pharyngeal arch morphology, preweaning lethality, complete penetrance, abnormal pericardium morphology, embryonic growth retardation, abnormal digit morphology
Human ciliopathy phenotype:
short-rib thoracic dysplasia 10 with or without polydactyly; retinitis pigmentosa 71; Bardet-Biedl syndrome 20; short-rib thoracic dysplasia 9 with or without polydactyly; short rib dysplasia

Ciliopathy associations

  • Bardet-Biedl Syndrome
  • Joubert Syndrome
  • Retinal Dystrophy/Degeneration
  • Short-Rib Thoracic Dysplasia
  • Skeletal Ciliopathy

References: PMID:25168386, PMID:24140113, PMID:33037165, PMID:29458881, PMID:37471416, PMID:38062428, PMID:31850339, PMID:30479745, PMID:40370963, PMID:36533556

Subcellular localization

basal body, cilia

References: PMID:29659833, PMID:31850339, PMID:18930042, PMID:25168386

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Reproduction & sperm
  • Protein processing & maturation
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Component of IFT complex B. Involved in the switching between the anterograde and retrograde transport (29659833). Essential for ciliary growth and maintenance, and morphogenesis of the cerebral cortex. Mutation cause alterations in multiple intracellular signaling pathways (31850339, 18930042). Mutations are associated with severe skeleto-re l disorders with retinal involvement (25168386).