DYNC2H1

DYNC2H1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4RH7
Identifiers
Aliases	DYNC2H1, ATD3, DHC1b, DHC2, DNCH2, DYH1B, SRPS2B, SRTD3, hdhc11, dynein cytoplasmic 2 heavy chain 1
External IDs	OMIM: 603297 MGI: 107736 HomoloGene: 14468 GeneCards: DYNC2H1
Gene location (Human)
Chr.	Chromosome 11 (human)[1]
End	103,479,863 bp[1]
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)[2]
End	7,184,446 bp[2]
RNA expression pattern
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	• microtubule motor activity; • nucleotide binding; • ATPase activity; • cellular motor activity; • ATP binding; • ATP-dependent microtubule motor activity, minus-end-directed; • dynein light chain binding; • dynein intermediate chain binding; • dynein light intermediate chain binding;
Cellular component	• cytoplasm; • Golgi apparatus; • cell projection; • membrane; • cell membrane; • ciliary tip; • dynein complex; • microtubules; • extracellular exosome; • cytoskeleton; • cilium; • cytoplasmic dynein complex; • apical part of cell; • GO:0035085 axoneme; • motile cilium;
Biological process	• Golgi organization; • multicellular organism development; • microtubule-based movement; • cell projection organization; • intraciliary transport involved in cilium assembly; • determination of left/right symmetry; • heart development; • dorsal/ventral pattern formation; • protein processing; • spinal cord motor neuron differentiation; • neuron differentiation; • embryonic limb morphogenesis; • forebrain development; • positive regulation of smoothened signaling pathway; • coronary vasculature development; • non-motile cilium assembly; • intraciliary retrograde transport; • cilium morphogenesis; • protein localization to cilium;
	Sources:Amigo / QuickGO
Orthologs
	79659
	110350
	ENSG00000187240
	ENSMUSG00000047193
	Q8NCM8
	Q45VK7
	NM_001080463; NM_001377; NM_024606
	NM_029851; NM_001364519
	NP_001073932; NP_001368
	NP_084127; NP_001351448
	Wikidata
View/Edit Human	View/Edit Mouse

Cytoplasmic dynein 2 heavy chain 1 is a protein that in humans is encoded by the DYNC2H1 gene.[5][6][7]

It is associated with Short rib-polydactyly syndrome type 3.[8]

It is also associated with Asphyxiating thoracic dysplasia.[9]

References

GRCh38: Ensembl release 89: ENSG00000187240 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000047193 - 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.
Koehler MR, Schmid M, Neesen J (Nov 1998). "Chromosomal localization of the human cytoplasmic dynein heavy chain gene DNCH2 to 11q21→q22.1". Cytogenet Cell Genet. 82 (1–2): 123–5. doi:10.1159/000015085. PMID 9763680. S2CID 46818608.
Neesen J, Koehler MR, Kirschner R, Steinlein C, Kreutzberger J, Engel W, Schmid M (Dec 1997). "Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene". Gene. 200 (1–2): 193–202. doi:10.1016/S0378-1119(97)00417-4. PMID 9373155.
"Entrez Gene: DYNC2H1 dynein, cytoplasmic 2, heavy chain 1".
Merrill AE, Merriman B, Farrington-Rock C, et al. (April 2009). "Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome". Am. J. Hum. Genet. 84 (4): 542–9. doi:10.1016/j.ajhg.2009.03.015. PMC 2667993. PMID 19361615.
Dagoneau N, Goulet M, Geneviève D, et al. (May 2009). "DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III". Am. J. Hum. Genet. 84 (5): 706–11. doi:10.1016/j.ajhg.2009.04.016. PMC 2681009. PMID 19442771.

Gibbons BH, Asai DJ, Tang WJ, et al. (1994). "Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins". Mol. Biol. Cell. 5 (1): 57–70. doi:10.1091/mbc.5.1.57. PMC 301009. PMID 8186465.
Vaisberg EA, Grissom PM, McIntosh JR (1996). "Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles". J. Cell Biol. 133 (4): 831–42. doi:10.1083/jcb.133.4.831. PMC 2120833. PMID 8666668.
Criswell PS, Ostrowski LE, Asai DJ (1997). "A novel cytoplasmic dynein heavy chain: expression of DHC1b in mammalian ciliated epithelial cells". J. Cell Sci. 109 (7): 1891–8. PMID 8832411.
Kastury K, Taylor WE, Gutierrez M, et al. (1997). "Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11". Genomics. 44 (3): 362–4. doi:10.1006/geno.1997.4903. PMID 9325061.
Grissom PM, Vaisberg EA, McIntosh JR (2002). "Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2". Mol. Biol. Cell. 13 (3): 817–29. doi:10.1091/mbc.01-08-0402. PMC 99601. PMID 11907264.
Ohara O, Nagase T, Mitsui G, et al. (2003). "Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method". DNA Res. 9 (2): 47–57. CiteSeerX 10.1.1.579.1376. doi:10.1093/dnares/9.2.47. PMID 12056414.
Mikami A, Tynan SH, Hama T, et al. (2003). "Molecular structure of cytoplasmic dynein 2 and its distribution in neuronal and ciliated cells". J. Cell Sci. 115 (Pt 24): 4801–8. doi:10.1242/jcs.00168. PMID 12432068.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Yokota T, Kouno J, Adachi K, et al. (2006). "Identification of histological markers for malignant glioma by genome-wide expression analysis: dynein, alpha-PIX and sorcin". Acta Neuropathol. 111 (1): 29–38. doi:10.1007/s00401-005-1085-6. PMID 16320026. S2CID 22206187.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000187240 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000047193 - 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.

[pmid9763680-5] Koehler MR, Schmid M, Neesen J (Nov 1998). "Chromosomal localization of the human cytoplasmic dynein heavy chain gene DNCH2 to 11q21→q22.1". Cytogenet Cell Genet. 82 (1–2): 123–5. doi:10.1159/000015085. PMID 9763680. S2CID 46818608.

[pmid9373155-6] Neesen J, Koehler MR, Kirschner R, Steinlein C, Kreutzberger J, Engel W, Schmid M (Dec 1997). "Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene". Gene. 200 (1–2): 193–202. doi:10.1016/S0378-1119(97)00417-4. PMID 9373155.

[entrez-7] "Entrez Gene: DYNC2H1 dynein, cytoplasmic 2, heavy chain 1".

[pmid19361615-8] Merrill AE, Merriman B, Farrington-Rock C, et al. (April 2009). "Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome". Am. J. Hum. Genet. 84 (4): 542–9. doi:10.1016/j.ajhg.2009.03.015. PMC 2667993. PMID 19361615.

[pmid19442771-9] Dagoneau N, Goulet M, Geneviève D, et al. (May 2009). "DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III". Am. J. Hum. Genet. 84 (5): 706–11. doi:10.1016/j.ajhg.2009.04.016. PMC 2681009. PMID 19442771.

DYNC2H1

See also

References

Further reading