Gene: DNAI2
Alternate names for this Gene: CILD9|DIC2
Gene Summary: The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.
Gene is located in Chromosome: 17
Location in Chromosome : 17q25.1
Description of this Gene: dynein axonemal intermediate chain 2
Type of Gene: protein-coding
rs752924362 in
DNAI2 gene and
CILIARY DYSKINESIA, PRIMARY, 9
PMID 23261302 2013 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
PMID 25802884 2015 Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.
PMID 23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
rs752924362 in
DNAI2 gene and
Ciliary Motility Disorders
PMID 23261302 2013 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
PMID 25802884 2015 Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.
PMID 23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
PMID 18950741 2008 DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.