TFAP2B

transcription factor AP-2 beta

Ensembl:
ENSG00000008196
UniProt:
Q92481
OMIM:
601601
Synonyms:
AP-2BETA, AP2-B

Cilia effects upon perturbation of TFAP2B

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]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
increased grip strength; iris synechia; abnormal optic disk morphology; preweaning lethality; complete penetrance

Subcellular localization

nucleoplasm

Functional category

  • Motile cilium & axoneme

Function

Mutations in TFAP2B cause Autosomal Recessive Polycystic Kidney Disease (PMID: 36710876).

Model organism evidence

Danio rerio (1 reference)

Interestingly, this regulatory node is distinct from other checkpoints of differentiation, such as polarity establishment and ciliogenesis.

PMIDs: 31160420