DNAI2

DNAI2
Identifiers
Aliases	DNAI2, CILD9, DIC2, dynein axonemal intermediate chain 2
External IDs	OMIM: 605483; MGI: 2685574; GeneCards: DNAI2
Gene location (Human)
Chr.	Chromosome 17 (human)
End	74,314,884 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	114,648,715 bp
RNA expression pattern
	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
	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
Databases	NCBI: entry; OMA: entry
	64446
	432611
	ENSG00000171595
	ENSMUSG00000034706
	Q9GZS0
	A2AC93
	NM_001172810; NM_023036; NM_001353167
	NM_001034878
	NP_001166281; NP_075462; NP_001340096
	NP_001030050
	Wikidata
View/Edit Human	View/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.

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.

Clinical significance

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

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000171595 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034706 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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. S2CID 21558696.
↑ 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

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000171595 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] 1 2 "Entrez Gene: dynein".

[pmid11153919-6] 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.

[pmid18950741-7] 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.

v t e Ciliary proteins
Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
Basal body	BBSome BBS1 BBS2 BBS4 BBS5 BBS7 BBS8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1
Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67
Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1
Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B
Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 DNAAF1 INPP5E KIF3A SDCCAG8 TMEM216 TXNDC3
see also: ciliopathy