DNAI2

DNAI2
Identifiers
Aliases	DNAI2 , CILD9, DIC2, dynein axonemal intermediate chain 2
External IDs	OMIM: 605483 MGI: 2685574 HomoloGene: 11311 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; ; sperm; ; trachea; ; right lung; ; caput epididymis; ; left uterine tube; ; pituitary gland; ; anterior pituitary; ; hypothalamus;
	Top expressed in
	spermatid; ; otolith organ; ; utricle; ; seminiferous tubule; ; olfactory epithelium; ; spermatocyte; ; right lung lobe; ; left lung lobe; ; trigeminal ganglion; ; habenula;
	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
	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

Last updated October 14, 2022

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]

Related Research Articles

Cytoplasmic dynein 2 heavy chain 1 is a protein that in humans is encoded by the DYNC2H1 gene.

Dynein axonemal heavy chain 5 is a protein that in humans is encoded by the DNAH5 gene.

Dynein heavy chain 9, axonemal is a protein that in humans is encoded by the DNAH9 gene.

Dynein axonemal intermediate chain 1 is a protein that in humans is encoded by the DNAI1 gene.

Cytoplasmic dynein 1 light intermediate chain 2 is a protein that in humans is encoded by the DYNC1LI2 gene.

Dynein heavy chain 11, axonemal is a protein that in humans is encoded by the DNAH11 gene.

Lebercilin, also known as leber congenital amaurosis 5 (LCA5), is a protein that in humans is encoded by the LCA5 gene. This protein is thought to be involved in centrosomal or ciliary functions.

Leucine-rich repeat-containing protein 50 is a protein that in humans is encoded by the LRRC50 gene.

Radial spoke head protein 9 homolog is a protein that in humans is encoded by the RSPH9 gene.

Radial spoke head protein 4 homolog A, also known as radial spoke head-like protein 3, is a protein that in humans is encoded by the RSPH4A gene.

Thioredoxin domain-containing protein 3 (TXNDC3), also known as spermatid-specific thioredoxin-2 (Sptrx-2), is a protein that in humans is encoded by the NME8 gene on chromosome 7.

ADP-ribosylation factor-like protein 13B (ARL13B), also known as ADP-ribosylation factor-like protein 2-like 1, is a protein that in humans is encoded by the ARL13B gene.

Dynein axonemal light chain 1, (LC1) is a protein that in humans is encoded by the DNAL1 gene.

Kintoun, is a protein that is encoded by the DNAAF2 gene.

Radial spoke head 1 homolog (RSPH1), also known as cancer/testis antigen 79 (CT79) or testis-specific gene A2 protein (TSGA2), is a protein that in humans is encoded by the RSPH1 gene.

Dynein, axonemal, heavy chain 7 is a protein in humans that is encoded by the DNAH7 gene.

Dynein, axonemal, heavy chain 14 is a protein that in humans is encoded by the DNAH14 gene.

CCDC40 is the gene in humans that encodes the protein named coiled-coil domain containing 40.

Coiled-coil domain containing 151 is a protein that in humans is encoded by the CCDC151 gene.

Dynein axonemal heavy chain 1 is a protein that in humans is encoded by the DNAH1 gene.

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

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[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.

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v t e Ciliary proteins
Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
Basal body	BBsome BBS1 BBS2 BBS4 BBS5 BBS7 TTC8 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 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3
see also: ciliopathy