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DNAI2

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
DNAI2
Identifiers
AliasesDNAI2, CILD9, DIC2, dynein axonemal intermediate chain 2
External IDsOMIM:605483;MGI:2685574;HomoloGene:11311;GeneCards:DNAI2;OMA:DNAI2 - orthologs
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for DNAI2
Genomic location for DNAI2
Band17q25.1Start74,274,247bp[1]
End74,314,884bp[1]
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)[2]
Chromosome 11 (mouse)
Genomic location for DNAI2
Genomic location for DNAI2
Band11|11 E2Start114,618,234bp[2]
End114,648,715bp[2]
RNA expression pattern
Bgee
HumanMouse (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
Cellular component
Biological process
Sources:Amigo /QuickGO
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 asaxonemal dynein intermediate chain 2, is aprotein that in humans is encoded by theDNAI2gene.[5][6]

Function

[edit]

The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of thedynein complex of respiratory cilia and sperm flagella.[5]

Clinical significance

[edit]

Mutations in theDNAI2 gene are associated withprimary ciliary dyskinesia.[7]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000171595 –Ensembl, May 2017
  2. ^abcGRCm38: 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. ^ab"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 theUnited States National Library of Medicine, which is in thepublic domain.


External links

[edit]
Ciliaryproteins
Nephrocystin
Basal body
Cilia
Dynein
Radial spokes
Other
see also:ciliopathy


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