NBEAL2

neurobeachin like 2

Ensembl:: ENSG00000160796
UniProt:: Q6ZNJ1
OMIM:: 614169
Synonyms:: KIAA0540

Cilia effects upon perturbation of NBEAL2

Ciliogenesis screen results (1 screen)

Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:: decreased bone mineral content, thrombocytopenia, decreased bone mineral density, increased mean platelet volume, increased leukocyte cell number

Subcellular localization

cilia associated gene

Functional category

Ciliary assembly/disassembly

Function

Cultured stromal fibroblasts show punctate cytoplasmic staining of NBEAL2 with some colocalization with alpha tubulin in the cell periphery, strong NBEAL2 staining in all layers of the corneal epithelium and some stromal keratocytes . ( 33729517).

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