GABRD

gamma-aminobutyric acid type A receptor subunit delta

Ensembl:
ENSG00000187730
UniProt:
O14764
OMIM:
137163
Synonyms:
GABAARDELTA

Cilia effects upon perturbation of GABRD

Ciliogenesis screen results (5 screens)

  • Kim2016: No effect
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (robust z=3.13, ciliated=61.6%) PMID:26595381
  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.38) PMID:41160700

Phenotypes

Human ciliopathy phenotype:
Generalized epilepsy with febrile seizures-plus

Ciliopathy associations

  • Juvenile Myoclonic Epilepsy

Subcellular localization

cilia associated gene

Functional category

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

Function

Mutations in the GABRD gene cause Juvenile Myoclonic Epilepsy (PMID: 15115768). All four tested proteins exhibit … ciliary localization of a two-foci pattern along the neuronal cilium (38187761)