DNAI2

dynein axonemal intermediate chain 2

Ensembl:
ENSG00000171595
UniProt:
Q9GZS0
OMIM:
605483
Synonyms:
CILD9, DIC2, ODA6

Cilia effects upon perturbation of DNAI2

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:
decreased mean corpuscular volume, enlarged uriry bladder, increased total body fat amount, decreased lean body mass, preweaning lethality, incomplete penetrance, enlarged lymph nodes
Human ciliopathy phenotype:
primary ciliary dyskinesia

Ciliopathy associations

  • Primary Ciliary Dyskinesia

Subcellular localization

cilia, flagella

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Reproduction & sperm
  • Cell migration & adhesion

Function

Outher dynein arm intermediate chain protein. D I and D I2 form a complex essential for the stability of both proteins during early stages of outer dynein arms assembly (29113992). Essential for axonemal assembly of the ODA heavy chains D H5 and D H9 (18950741). Required for ODA formation in Kupffer's Vesicle cilia and controls the stablishment of left-right doby axis and kidney formation through regulation of ciliary motility.(20709053, 20707998)

Model organism evidence

Mus musculus (1 reference)

LRRC56 deletion causes primary ciliary dyskinesia in mice characterized by dynein arms defects.

PMIDs: 39912490