DNAAF2

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
View/Edit Human View/Edit Mouse

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

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. Bibcode:2008Natur.456..611O. 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.