ACVR2B

activin A receptor type 2B

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000114739
UniProt:
Q13705
OMIM:
602730
Synonyms:
ACTR-IIB

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.48) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (robust z=2.13, ciliated=54.0%) PMID:26595381

Phenotypes

Mouse phenotype:
preweaning lethality, incomplete penetrance, preweaning lethality, complete penetrance
Human ciliopathy phenotype:
visceral heterotaxy

Subcellular localization

No ciliary localization reported (cilia-associated gene).

Functional category

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

Function

Mutations in the ACVR2B gene cause Visceral Heterotaxy (PMID: 9916847).