DNAAF2

Kintoun, is a protein that is encoded by the DNAAF2 gene.^[5][6]

DNAAF2
Identifiers
Aliases	DNAAF2, C14orf104, CILD10, KTU, PF13, dynein (axonemal) assembly factor 2, dynein axonemal assembly factor 2
External IDs	OMIM: 612517; MGI: 1923566; HomoloGene: 10026; GeneCards: DNAAF2; OMA:DNAAF2 - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q21.3 Start 49,625,174 bp[1] End 49,635,244 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 C2 Start 69,235,861 bp[2] End 69,245,203 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bronchial epithelial cell oocyte gonad mucosa of sigmoid colon embryo testicle Epithelium of choroid plexus secondary oocyte jejunum jejunal mucosa Top expressed in spermatocyte spermatid testicle epiblast proximal tubule ventricular zone embryo yolk sac embryo ganglionic eminence More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cytoplasm cytosol Biological process cilium-dependent cell motility axonemal dynein complex assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55172 109065 Ensembl ENSG00000165506 ENSMUSG00000020973 UniProt Q9NVR5 Q8BPI1 RefSeq (mRNA) NM_018139 NM_001083908 NM_001378453 NM_027269 RefSeq (protein) NP_001077377 NP_060609 NP_001365382 NP_081545 Location (UCSC) Chr 14: 49.63 – 49.64 Mb Chr 12: 69.24 – 69.25 Mb PubMed search [3] [4]
Wikidata
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Function

Kintoun is a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for ciliogenesis.^[5]

Clinical significance

Mutations in DNAAF2 are associated with primary ciliary dyskinesia.^[7]