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)
End	49,635,244 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	69,245,203 bp
RNA expression pattern
	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
	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
	55172
	109065
	ENSG00000165506
	ENSMUSG00000020973
	Q9NVR5
	Q8BPI1
	NM_018139; NM_001083908; NM_001378453
	NM_027269
	NP_001077377; NP_060609; NP_001365382
	NP_081545
	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 2 3 GRCh38: Ensembl release 89: ENSG00000165506 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020973 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Entrez Gene: chromosome 14 open reading frame 104".
↑ 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.
↑ 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.

This article on a gene on human chromosome 14 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000165506 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] 1 2 "Entrez Gene: chromosome 14 open reading frame 104".

[pmid19052621-6] 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

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v t e Ciliary proteins
Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
Basal body	BBSome BBS1 BBS2 BBS4 BBS5 BBS7 BBS8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1
Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67
Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1
Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B
Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3
see also: ciliopathy

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DNAAF2

Function

Clinical significance

References

External links