DNAI2

DNAI2
Identifiers
Aliases	DNAI2 , CILD9, DIC2, dynein axonemal intermediate chain 2
External IDs	OMIM: 605483; MGI: 2685574; HomoloGene: 11311; GeneCards: DNAI2; OMA:DNAI2 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17q25.1 Start 74,274,247 bp [1] End 74,314,884 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11|11 E2 Start 114,618,234 bp [2] End 114,648,715 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube bronchial epithelial cell mucosa of paranasal sinus left testis right testis olfactory zone of nasal mucosa nasal epithelium sperm epithelium of nasopharynx testicle Top expressed in spermatid otolith organ utricle seminiferous tubule olfactory epithelium spermatocyte vestibular sensory epithelium Epithelium of choroid plexus right lung lobe blastocyst More reference expression data BioGPS n/a
Gene ontology Molecular function microtubule motor activity cytoskeletal motor activity protein binding plus-end-directed microtubule motor activity dynein light chain binding dynein heavy chain binding Cellular component cytoplasm axonemal dynein complex dynein complex axoneme cell projection sperm flagellum cilium microtubule outer dynein arm cytoskeleton external side of plasma membrane Biological process cilium movement determination of left/right symmetry outer dynein arm assembly cell projection organization cilium assembly microtubule-based movement Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64446 432611 Ensembl ENSG00000171595 ENSMUSG00000034706 UniProt Q9GZS0 A2AC93 RefSeq (mRNA) NM_001172810 NM_023036 NM_001353167 NM_001034878 RefSeq (protein) NP_001166281 NP_075462 NP_001340096 NP_001030050 Location (UCSC) Chr 17: 74.27 – 74.31 Mb Chr 11: 114.62 – 114.65 Mb PubMed search [3] [4]
Wikidata
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Dynein axonemal intermediate chain 2 also known as axonemal dynein intermediate chain 2, is a protein that in humans is encoded by the DNAI2 gene. ^{[5] [6]}

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. ^[5]

Clinical significance

Mutations in the DNAI2 gene are associated with primary ciliary dyskinesia. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000171595 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000034706 – 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: dynein".
6. 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. S2CID   21558696.
7. 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.

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

External links

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