GABRG2

gamma-aminobutyric acid type A receptor subunit gamma2

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000113327
UniProt:
P18507
OMIM:
137164

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.64) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-3.77) PMID:41160700

Phenotypes

Mouse phenotype:
preweaning lethality, complete penetrance, decreased heart weight, abnormal skin morphology, decreased bone mineral density, abnormal ovary morphology, decreased bone mineral content
Human ciliopathy phenotype:
Generalized epilepsy with febrile seizures-plus

Subcellular localization

cilia

References: PMID:40623838

Functional category

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

Function

GABRG2 showed a consistent, punctate signal throughout the cilium in mouse primary cortical neurons (PMID: 40623838).