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