POMK
protein O-mannose kinase
Tier: Cilia-Associated Genes
- Ensembl:
- ENSG00000185900
- UniProt:
- Q9H5K3
- OMIM:
- 615247
- Synonyms:
- FLJ23356, SGK196
Ciliogenesis screen results (2 screens)
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=897, lfc=-1.56) PMID:30270045
Phenotypes
- Mouse phenotype:
- decreased startle reflex, preweaning lethality, complete penetrance, increased bone mineral density, increased spleen weight
Subcellular localization
No ciliary localization reported (cilia-associated gene).
References: PMID:21746835
Functional category
- Ciliary assembly/disassembly
- Reproduction & sperm
Function
Hydrocephalus and infertility due to dysfunctional motile cilia, cerebellar dysplasia in KO mouse 21746835