POMT2

protein O-mannosyltransferase 2

Ensembl:
ENSG00000009830
UniProt:
Q9UKY4
OMIM:
607439
Synonyms:
LGMD2N

Cilia effects upon perturbation of POMT2

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.41) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Basu et al. 2023 (siRNA) [siRNA]: Left-Right Asymmetry Candidate (Z2MCilia=0.05) PMID:37771269
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

Subcellular localization

cilia associated gene

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

POMT2 is essential for EYS protein localization near connecting cilia and for photoreceptor survival ( 36499139).