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DNAI2

From Wikipedia, the free encyclopedia

DNAI2
Identifiers
AliasesDNAI2, CILD9, DIC2, dynein axonemal intermediate chain 2
External IDsOMIM: 605483 MGI: 2685574 HomoloGene: 11311 GeneCards: DNAI2
Orthologs
SpeciesHumanMouse
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 MbChr 11: 114.62 – 114.65 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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. ^ 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:". 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. ^ 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. 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


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This page was last edited on 13 October 2022, at 20:33
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