PDZD7

PDZ domain containing 7

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000186862
UniProt:
Q9H5P4
OMIM:
612971
Synonyms:
BA108L7.8, DFNB57, FLJ23209, PDZK7

Ciliogenesis screen results (1 screens)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Human ciliopathy phenotype:
hearing loss, autosomal recessive 57; hearing loss, autosomal recessive

Ciliopathy associations

  • Usher Syndrome

References: PMID:25404053, PMID:30531642, PMID:20440071

Subcellular localization

basal body, nucleus, cilia

References: PMID:41005307, PMID:20440071, PMID:23055499

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Retinal disease modifier in patients with digenic Usher syndrome. Homolog of whirlin (USH2D) and harmonin (USH1C). Part of the Usher protein complex (20440071). It positions and stabilises GPR98 (23055499).