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	MGI: 107736 HomoloGene: 14468 GeneCards: DYNC2H1
Genetically Related Diseases
tuberculosis[1]
Gene ontology Molecular function • microtubule motor activity • nucleotide binding • ATPase activity • motor activity • ATP binding Cellular component • cytoplasm • cytosol • Golgi apparatus • cell projection • membrane • motile primary cilium • plasma membrane • apical part of cell • cilium • ciliary tip • dynein complex • axoneme • primary cilium • microtubule • extracellular exosome • cytoskeleton Biological process • cilium morphogenesis • antigen processing and presentation of exogenous peptide antigen via MHC class II • Golgi organization • positive regulation of smoothened signaling pathway • protein processing • coronary vasculature development • multicellular organism development • ER to Golgi vesicle-mediated transport • microtubule-based movement • heart development • determination of left/right symmetry • cell projection organization • embryonic limb morphogenesis • neuron differentiation • cilium assembly • forebrain development • spinal cord motor neuron differentiation • intraciliary retrograde transport • dorsal/ventral pattern formation • asymmetric protein localization Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	79659	110350
Ensembl	ENSG00000187240	ENSMUSG00000047193
UniProt	Q8NCM8	Q45VK7
RefSeq (mRNA)	NM_001080463 NM_001377 NM_024606	NM_029851
RefSeq (protein)	NP_001073932.1 NP_001368.2	NP_084127.2
Location (UCSC)	Chr 11: 103.11 – 103.48 Mb	Chr 9: 6.93 – 7.18 Mb
PubMed search	[2]	[3]
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.^[4][5][6]

It is associated with Short rib-polydactyly syndrome type 3.^[7]

It is also associated with Asphyxiating thoracic dysplasia.^[8]

See also

• dynein

References

1. "Diseases that are genetically associated with DYNC2H1 view/edit references on wikidata".
2. "Human PubMed Reference:".
3. "Mouse PubMed Reference:".
4. 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.
5. 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.
6. "Entrez Gene: DYNC2H1 dynein, cytoplasmic 2, heavy chain 1".
7. 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.
8. 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.

Further reading

• 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. 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.