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