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
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q21.3 Start 49,625,174 bp[1] End 49,635,230 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 C2 Start 69,189,087 bp[2] End 69,198,429 bp[2]
Gene ontology Molecular function • GO:0001948 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: 69.19 – 69.2 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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]

References

1. GRCh38: Ensembl release 89: ENSG00000165506 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020973 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: chromosome 14 open reading frame 104".
6. Omran H, Kobayashi D, Olbrich H, Tsukahara T, Loges NT, Hagiwara H, Zhang Q, Leblond G, O'Toole E, Hara C, Mizuno H, Kawano H, Fliegauf M, Yagi T, Koshida S, Miyawaki A, Zentgraf H, Seithe H, Reinhardt R, Watanabe Y, Kamiya R, Mitchell DR, Takeda H (December 2008). "Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins". Nature. 456 (7222): 611–6. doi:10.1038/nature07471. PMC 3279746. PMID 19052621.
7. Online Mendelian Inheritance in Man (OMIM): 612517

External links

• GeneReviews/NCBI/NIH/UW entry on Primary Ciliary Dyskinesia
• Human DNAAF2 genome location and DNAAF2 gene details page in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.