NEK3

NIMA related kinase 3

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000136098
UniProt:: P51956
OMIM:: 604044
Synonyms:: HSPK36, MGC29949

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

Subcellular localization

basal body, cilia, nucleus

References: PMID:41005307, PMID:33230144

Functional category

Ciliary assembly/disassembly
Cardiac & muscle development

Function

Biallelic loss of function NEK3 mutations were found in 2 families with abnormal cardiac left-right patterning. NEK3 depeletion was associated with deacetylation of α-tubulin and downregulation of NUP205, NUP188, and NUP155 and defective ciliary ultrastructure (33230144)

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