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DNAI2
Identifiers
Aliases DNAI2, CILD9, DIC2, dynein axonemal intermediate chain 2
External IDs MGI: 2685574 HomoloGene: 11311 GeneCards: DNAI2
Gene location (Human)
Chromosome 17 (human)
Chr. Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for DNAI2
Genomic location for DNAI2
Band 17q25.1 Start 74,274,247 bp[1]
End 74,314,884 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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: 114.73 – 114.76 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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.[5][6]

Function[edit]

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[edit]

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

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000171595 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034706 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ a b "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. 
  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 2668028Freely accessible. PMID 18950741. 

External links[edit]

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


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