POMK
protein O-mannose kinase
- Ensembl:
- ENSG00000185900
- UniProt:
- Q9H5K3
- OMIM:
- 615247
- Synonyms:
- FLJ23356, SGK196
Cilia effects upon perturbation of POMK
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
- Mouse ciliopathy phenotype:
- abnormal kidney morphology
Subcellular localization
cilia associated gene
Functional category
- Ciliary assembly/disassembly
- Reproduction & sperm
Function
Hydrocephalus and infertility due to dysfunctio l motile cilia, cerebellar dysplasia in KO mouse 21746835