GRIN2B

glutamate ionotropic receptor NMDA type subunit 2B

Ensembl:
ENSG00000273079
UniProt:
Q13224
OMIM:
138252
Synonyms:
GLUN2B, NMDAR2B, NR2B

Cilia effects upon perturbation of GRIN2B

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • 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]: Joubert Candidate / Ciliogenesis Defect (robust z=-2.29, ciliated=20.1%) PMID:26595381

Phenotypes

Mouse phenotype:
decreased locomotor activity, preweaning lethality, incomplete penetrance, increased startle reflex, increased mean platelet volume
Mouse ciliopathy phenotype:
enlarged heart
Human ciliopathy phenotype:
intellectual disability, autosomal dominant 6; Intellectual disability; GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder

Subcellular localization

basal body, cilia, transition zone

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Transition zone
  • Transcription regulation

Function

GRIN2B has localized in basal body, transition zone,cilia.