DNAJB11

DnaJ heat shock protein family (Hsp40) member B11

Ensembl:
ENSG00000090520
UniProt:
Q9UBS4
OMIM:
611341
Synonyms:
EDJ, ERDJ3, HEDJ

Cilia effects upon perturbation of DNAJB11

Ciliogenesis screen results (4 screens)

  • 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
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=413, lfc=0.89) PMID:30270045

Phenotypes

Mouse phenotype:
increased circulating alkaline phosphatase level, preweaning lethality, incomplete penetrance, increased startle reflex
Mouse ciliopathy phenotype:
abnormal reti vasculature morphology, dilated aorta, persistence of hyaloid vascular system, abnormal reti morphology, abnormal reti blood vessel morphology
Human ciliopathy phenotype:
polycystic kidney disease 6 with or without polycystic liver disease; Autosomal dominant polycystic kidney disease

Ciliopathy associations

  • Renal-hepatic-pancreatic Dysplasia
  • Autosomal Dominant Polycystic Kidney Disease

Subcellular localization

cilia associated gene, endoplasmic reticulum, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Neurogenesis & migration
  • Protein processing & maturation

Function

Mutations in the DNAJB11 gene cause Renal-hepatic-pancreatic Dysplasia and Autosomal Dominant Polycystic Kidney Disease (PMID: 33129895, 29706351).