DNAI2

Dynein, axonemal, intermediate chain 2
Identifiers
Symbols	DNAI2; CILD9
External IDs	OMIM: 605483 MGI: 2685574 HomoloGene: 11311 GeneCards: DNAI2 Gene
Gene Ontology Molecular function • microtubule motor activity Cellular component • cytoplasm • cytoskeleton • axonemal dynein complex • microtubule • cilium • cilium axoneme Biological process • cell projection organization • cilium assembly Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	64446	432611
Ensembl	ENSG00000171595	ENSMUSG00000034706
UniProt	Q9GZS0	A2AC93
RefSeq (mRNA)	NM_001172810.1	NM_001034878.2
RefSeq (protein)	NP_001166281.1	NP_001030050.2
Location (UCSC)	Chr 17: 72.27 – 72.31 Mb	Chr 11: 114.59 – 114.62 Mb
PubMed search	[1]	[2]

Dynein intermediate chain 2, axonemal, also known as axonemal dynein intermediate chain 2, is a protein that in humans is encoded by the DNAI2 gene.^[1][2]

Function

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.^[1]

Clinical significance

Mutations in the DNAI2 gene are associated with primary ciliary dyskinesia.^[3]

References

1. ^ ^{a b} "Entrez Gene: dynein". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64446. 
2. ^ Pennarun G, Chapelin C, Escudier E, Bridoux AM, Dastot F, Cacheux V, Goossens M, Amselem S, Duriez B (December 2000). "The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia". Hum. Genet. 107 (6): 642–9. doi:10.1007/s004390000427. PMID 11153919. 
3. ^ Loges NT, Olbrich H, Fenske L, Mussaffi H, Horvath J, Fliegauf M, Kuhl H, Baktai G, Peterffy E, Chodhari R, Chung EM, Rutman A, O'Callaghan C, Blau H, Tiszlavicz L, Voelkel K, Witt M, Zietkiewicz E, Neesen J, Reinhardt R, Mitchison HM, Omran H (November 2008). "DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm". Am. J. Hum. Genet. 83 (5): 547–58. doi:10.1016/j.ajhg.2008.10.001. PMC 2668028. PMID 18950741. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2668028. 

External links

• GeneReviews/NCBI/NIH/UW entry on Primary Ciliary Dyskinesia

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