ITGA8
integrin subunit alpha 8
Tier: Gold Standard Ciliary Genes
- 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
References: PMID:28883094
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
- 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).