DNAI2
| Dynein, axonemal, intermediate chain 2 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | DNAI2 ; CILD9; DIC2 | ||||||||||||
| External IDs | OMIM: 605483 MGI: 2685574 HomoloGene: 11311 GeneCards: DNAI2 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 64446 | 432611 | |||||||||||
| Ensembl | ENSG00000171595 | ENSMUSG00000034706 | |||||||||||
| UniProt | Q9GZS0 | A2AC93 | |||||||||||
| RefSeq (mRNA) | NM_001172810 | NM_001034878 | |||||||||||
| RefSeq (protein) | NP_001166281 | NP_001030050 | |||||||||||
| Location (UCSC) |
Chr 17: 74.27 – 74.31 Mb |
Chr 11: 114.73 – 114.76 Mb | |||||||||||
| PubMed search | |||||||||||||
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 2 "Entrez Gene: dynein".
- ↑ 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.
- ↑ 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.
External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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