PROKR2

prokineticin receptor 2

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000101292
UniProt:
Q8NFJ6
OMIM:
607123
Synonyms:
DJ680N4.3, GPR73B, GPR73L1, GPRG2, KAL3, PKR2

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Human ciliopathy phenotype:
hypogonadotropic hypogonadism 3 with or without anosmia

Ciliopathy associations

  • Kallmann Syndrome

References: PMID:18985070, PMID:36138264, PMID:20362962, PMID:23368665, PMID:23596439

Subcellular localization

No ciliary localization reported (cilia-associated gene).

References: PMID:20389090

Functional category

  • Small GTPases; Non-motile cilium / primary cilium; Signaling (Hedgehog, GPCRs, ion channels)

Function

PROK2 and its receptor PROKR2 contribute to primary cilium–dependent neuronal migration pathways. Mutations cause Kallmann syndrome, a recognized ciliopathy with variable penetrance and oligogenic inheritance(PMID: 20389090).