ITGA8

integrin subunit alpha 8

Ensembl:
ENSG00000077943
UniProt:
P53708
OMIM:
604063

Cilia effects upon perturbation of ITGA8

Cilia number / % ciliated:
Unknown
Loss-of-function effect:
Shorter cilia
Overexpression effect:
Longer cilia

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
increased circulating calcium level, increased grip strength, decreased mean corpuscular hemoglobin concentration, increased mean corpuscular volume, decreased circulating glucose level, increased circulating sodium level, increased circulating free fatty acids level, preweaning lethality, incomplete penetrance
Human ciliopathy phenotype:
renal hypodysplasia/aplasia 1

Subcellular localization

cilia

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • T cell biology
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cardiac & muscle development

Function

Pcdh15a and Itga8 are apically localized in zebrafish hair cells, including kinocilia, where they colocalize at ciliary tips and are required for proper ciliogenesis and kinociliary morphology. Loss of either protein leads to shortened or abnormal kinocilia and mislocalization of both proteins, highlighting their interdependent roles at the ciliary compartment(PMID: 28883094).

Model organism evidence

Mus musculus (1 reference)

Hair cells have stereocilia that are indispensable for mechanosensation, but the molecular mechanisms regulating stereocilia formation are poorly understood.

PMIDs: 10742111