Gene Symbol: DYNC2H1
Description: dynein cytoplasmic 2 heavy chain 1
Alias: ATD3, DHC1b, DHC2, DNCH2, DYH1B, SRPS2B, SRTD3, hdhc11, cytoplasmic dynein 2 heavy chain 1, dynein cytoplasmic heavy chain 2, dynein heavy chain 11, dynein heavy chain, isotype 1B, dynein, cytoplasmic, heavy polypeptide 2
Species: human
Products:     DYNC2H1

Top Publications

  1. Kastury K, Taylor W, Gutierrez M, Ramirez L, Coucke P, Van Hauwe P, et al. 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. 1997;44:362-4 pubmed
    ..to two human dynein heavy chain genes: beta heavy chain of the outer dynein arm and heavy chain isotype 1B (DYH1B), by using somatic cell hybrids and radiation hybrid panels...
  2. Neesen J, Koehler M, Kirschner R, Steinlein C, Kreutzberger J, Engel W, et al. Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene. Gene. 1997;200:193-202 pubmed
    ..Two of these clones, gHDHC7 and gMDHC7, are homologous genes encoding axonemal inner arm dyneins. While the human clone is assigned to 3p21, the mouse gene maps to chromosome 14. ..
  3. Merrill A, Merriman B, Farrington Rock C, Camacho N, Sebald E, Funari V, et al. Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Genet. 2009;84:542-9 pubmed publisher
    ..Homozygosity by descent mapping in a consanguineous SRP family identified a genomic region that contained DYNC2H1, a cytoplasmic dynein involved in retrograde transport in the cilium...
  4. Gibbons B, Asai D, Tang W, Hays T, Gibbons I. Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins. Mol Biol Cell. 1994;5:57-70 pubmed
    ..Evolutionary changes in cytoplasmic dynein have been more constrained than those in the axonemal dyneins. ..
  5. Dagoneau N, Goulet M, Genevieve D, Sznajer Y, Martinovic J, Smithson S, et al. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet. 2009;84:706-11 pubmed publisher
    ..3-q23.1 in a 20.4 Mb region and identified homozygous mutations in the cytoplasmic dynein 2 heavy chain 1 (DYNC2H1) gene in the affected children...
  6. Mikami A, Tynan S, Hama T, Luby Phelps K, Saito T, Crandall J, et al. Molecular structure of cytoplasmic dynein 2 and its distribution in neuronal and ciliated cells. J Cell Sci. 2002;115:4801-8 pubmed
    ..These data support a specific role for dynein 2 in the generation and maintenance of cilia. ..
  7. Pfister K, Shah P, Hummerich H, Russ A, Cotton J, Annuar A, et al. Genetic analysis of the cytoplasmic dynein subunit families. PLoS Genet. 2006;2:e1 pubmed
  8. Vaisberg E, Grissom P, McIntosh J. Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles. J Cell Biol. 1996;133:831-42 pubmed
    ..b>DHC2 is a distant member of the "cytoplasmic" branch of the dynein phylogenetic tree, while DHC3 shares more ..
  9. Criswell P, Ostrowski L, Asai D. A novel cytoplasmic dynein heavy chain: expression of DHC1b in mammalian ciliated epithelial cells. J Cell Sci. 1996;109 ( Pt 7):1891-8 pubmed
    ..axonemal dyneins, one encodes conventional cytoplasmic dynein (MAP1C or DHC1a), and one, here referred to as DHC1b, encodes an unclassified heavy chain. Previous analysis of sea urchin DHC1b (Gibbons et al. (1994) Mol. Biol...

More Information


  1. El Hokayem J, Huber C, Couvé A, Aziza J, Baujat G, Bouvier R, et al. NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. J Med Genet. 2012;49:227-33 pubmed publisher
    ..Double heterozygosity for mutations in both NEK1 and DYNC2H1 in one SRP type II case supported possible digenic diallelic inheritance...
  2. Grissom P, Vaisberg E, McIntosh J. Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2. Mol Biol Cell. 2002;13:817-29 pubmed
    ..The D2LIC subunit interacts specifically with DHC2 (or cDhc1b) in both reciprocal immunoprecipitations and sedimentation assays...
  3. Rajcan Separovic E. Next generation sequencing in recurrent pregnancy loss-approaches and outcomes. Eur J Med Genet. 2019;: pubmed publisher
    ..Recurrence of specific mutations or affected genes in different studies was rare (e.g.DYNC2H1, KIF14, RYR1 and GLE1) however genes involved in cell division, cilia function or fetal movement were frequently ..
  4. Zhou X, Chandler N, Deng L, Zhou J, Yuan M, Sun L. Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel. Prenat Diagn. 2018;38:692-699 pubmed publisher
    ..or possible diagnosis with identification of variants in the following genes: FGFR3, COL1A2, IHH, COL2A1, and DYNC2H1. Two cases revealed novel variants in COL2A1 and DYNC2H1...
  5. Hamada Y, Tsurumi Y, Nozaki S, Katoh Y, Nakayama K. Interaction of WDR60 intermediate chain with TCTEX1D2 light chain of the dynein-2 complex is crucial for ciliary protein trafficking. Mol Biol Cell. 2018;29:1628-1639 pubmed publisher
    ..The dynein-2 complex can be divided into three subcomplexes, namely DYNC2H1-DYNC2LI1, WDR34-DYNLL1/DYNLL2-DYNLRB1/DYNLRB2, and WDR60-TCTEX1D2-DYNLT1/DYNLT3...
  6. Jensen V, Lambacher N, Li C, Mohan S, Williams C, Inglis P, et al. Role for intraflagellar transport in building a functional transition zone. EMBO Rep. 2018;19: pubmed publisher
    ..Mutations in IFT subunits-including IFT-dynein motor DYNC2H1-impair ciliary structures and Hedgehog signalling, typically leading to "skeletal" ciliopathies such as Jeune ..
  7. Emiralioğlu N, Wallmeier J, Olbrich H, Omran H, Ozcelik U. DYNC2H1 mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy. Clin Respir J. 2018;12:1017-1020 pubmed publisher
    ..with recurrent lung infections, thoracic dystrophy, and respiratory distress that was diagnosed as Jeune syndrome; DYNC2H1 mutation was detected via genetic analysis and ciliary dysfunction was noted via high-speed video microscopy.
  8. Lin H, Guo S, Dutcher S. RPGRIP1L helps to establish the ciliary gate for entry of proteins. J Cell Sci. 2018;131: pubmed publisher
    ..of cilia from wild-type and mutants that affect the transition zone (RPGRIP1L) or IFT (IFT172 and DHC1b) by mass spectrometry. The rpg1-1 mutant cilia show the most dramatic increase in cytoplasmic proteins...
  9. Castro Oropeza R, Melendez Zajgla J, Maldonado V, Vazquez Santillan K. The emerging role of lncRNAs in the regulation of cancer stem cells. Cell Oncol (Dordr). 2018;41:585-603 pubmed publisher
    ..lncRNAs include CTCF7, ROR, DILC, HOTAIR, H19, HOTTIP, ATB, HIF2PUT, SOX2OT, MALAT-1, CUDR, Lnc34a, Linc00617, DYNC2H1-4, PVT1, SOX4 and ARSR Uc.283-plus...
  10. Halbritter J, Bizet A, Schmidts M, Porath J, Braun D, Gee H, et al. Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am J Hum Genet. 2013;93:915-25 pubmed publisher
    ..All six IFT-A components and their motor protein, DYNC2H1, have been linked to human skeletal ciliopathies, including asphyxiating thoracic dystrophy (ATD; also known as ..
  11. McInerney Leo A, Harris J, Leo P, Marshall M, Gardiner B, Kinning E, et al. Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. Clin Genet. 2015;88:550-7 pubmed publisher
    ..heterozygous or homozygous mutations were identified in six confirmed SRTD genes in 10 individuals (IFT172, DYNC2H1, TTC21B, WDR60, WDR34 and NEK1), giving overall sensitivity of 90.9%...
  12. Caparrós Martín J, De Luca A, Cartault F, Aglan M, Temtamy S, Otaify G, et al. Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium. Hum Mol Genet. 2015;24:4126-37 pubmed publisher
    ..three proteins failed to localize to Wdr35(-/-) cilia, but not to the cilium of the IFT retrograde motor mutant Dync2h1(-/-), indicating that IFT121 is specifically required for their entry into the ciliary compartment...
  13. Goggolidou P, Stevens J, Agueci F, Keynton J, Wheway G, Grimes D, et al. ATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesis. Development. 2014;141:3966-77 pubmed publisher
    ..embryonic cilia exhibited shortening and bulging, highly similar to the characterised retrograde IFT phenotype of Dync2h1. Depletion of ATMIN or DYNLL1 in cultured cells recapitulated the in vivo ciliogenesis phenotypes and expression ..
  14. Yamamoto T, Tsukahara T, Ishiguro T, Hagiwara H, Taira M, Takeda H. The medaka dhc2 mutant reveals conserved and distinct mechanisms of Hedgehog signaling in teleosts. BMC Dev Biol. 2015;15:9 pubmed publisher
    ..we have generated a maternal-zygotic medaka (Oryzias latipes) mutant that lacks cytoplasmic dynein heavy chain 2 (dhc2; MZdhc2), a component required for retrograde intraflagellar transport...
  15. Deng L, Cheung S, Schmitt E, Xiong S, Yuan M, Chen Z, et al. Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios. Birth Defects Res. 2018;110:364-371 pubmed publisher
    ..Two novel compound heterozygous mutations c.2992C?>?T and c.12836G?>?C in the DYNC2H1 gene were identified by targeted genes panel sequencing...
  16. Hu Y, Wu Q, Ma S, Ma T, Shan L, Wang X, et al. Comparative genomics reveals convergent evolution between the bamboo-eating giant and red pandas. Proc Natl Acad Sci U S A. 2017;114:1081-1086 pubmed publisher
    ..Limb development genes DYNC2H1 and PCNT have undergone adaptive convergence and may be important candidate genes for pseudothumb development...
  17. Goetz S, Bangs F, Barrington C, Katsanis N, Anderson K. The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling. PLoS ONE. 2017;12:e0173399 pubmed publisher
    ..We also find that Mks1 interacts genetically with an allele of Dync2h1, the IFT retrograde motor...
  18. Gao Y, Zhang Z, Li K, Gong L, Yang Q, Huang X, et al. Linc-DYNC2H1-4 promotes EMT and CSC phenotypes by acting as a sponge of miR-145 in pancreatic cancer cells. Cell Death Dis. 2017;8:e2924 pubmed publisher
    ..In the present study, we found that the long intergenic non-coding RNA linc-DYNC2H1-4 was upregulated in pancreatic cancer cell line BxPC-3-Gem with acquired gemcitabine resistance...
  19. Brunsch M, Schubert D, Gube M, Ring C, Hänisch L, Linde J, et al. Dynein Heavy Chain, Encoded by Two Genes in Agaricomycetes, Is Required for Nuclear Migration in Schizophyllum commune. PLoS ONE. 2015;10:e0135616 pubmed publisher
    ..In S. commune, the dynein heavy chain is encoded in two parts by two separate genes, dhc1 and dhc2. The N-terminal protein Dhc1 supplies the dimerization domain, while Dhc2 encodes the motor machinery and the ..
  20. Yi P, Li W, Dong M, Ou G. Dynein-Driven Retrograde Intraflagellar Transport Is Triphasic in C. elegans Sensory Cilia. Curr Biol. 2017;27:1448-1461.e7 pubmed publisher
    ..Inactivation of dynein-2 by mutations in DYNC2H1 causes skeletal dysplasias, and it remains unclear how the dynein-2 heavy chain moves in cilia...
  21. Lu S, Zhao L, Chen X, Papasian C, Wu K, Tan L, et al. Bivariate genome-wide association analyses identified genetic pleiotropic effects for bone mineral density and alcohol drinking in Caucasians. J Bone Miner Metab. 2017;35:649-658 pubmed publisher
    ..In males, the most significant association signal was detected in SNP rs685395 in DYNC2H1 with bivariate spine BMD and alcohol drinking (P = 1.94 × 10-8)...
  22. Wang H, Feng W, Lu Y, Li H, Xiang W, Chen Z, et al. Expression of dynein, cytoplasmic 2, heavy chain 1 (DHC2) associated with glioblastoma cell resistance to temozolomide. Sci Rep. 2016;6:28948 pubmed publisher
    ..data showed that TMZ altered expression of proteins that related to cytoskeleton structure and function, such as DHC2 and KIF2B. qRT-PCR and immunofluorescence were used to verify expression of DHC2 and KIF2B in these cells...
  23. Chen C, Ko T, Chang T, Chern S, Chen S, Lai S, et al. Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus. Taiwan J Obstet Gynecol. 2018;57:123-127 pubmed publisher
    ..and targeted next-generation sequencing (NGS) was applied to analyze a panel of 25 genes including CEP120, DYNC2H1, DYNC2LI1, EVC, EVC2, FGFR2, FGFR3, HOXD10, IFT122, IFT140, IFT172, IFT52, IFT80, KIAA0586, NEK1, PAPSS2, SLC26A2,..
  24. Lv B, Wan L, Taschner M, Cheng X, Lorentzen E, Huang K. Intraflagellar transport protein IFT52 recruits IFT46 to the basal body and flagella. J Cell Sci. 2017;130:1662-1674 pubmed publisher
    ..we show that the basal body localization of IFT46 depends on IFT52, but not on IFT81, IFT88, IFT122, FLA10 or DHC1b. IFT52 interacts with IFT46 through residues L285 and L286 of IFT46 and recruits it to basal bodies...
  25. Kessler K, Wunderlich I, Uebe S, Falk N, Gießl A, Brandstätter J, et al. DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects. Sci Rep. 2015;5:11649 pubmed publisher
    ..The more severe phenotypes are caused by defects of genes of the dynein-2 complex, where mutations in DYNC2H1, WDR34 and WDR60 have been identified...
  26. Stawicki T, Hernandez L, Esterberg R, Linbo T, Owens K, Shah A, et al. Cilia-Associated Genes Play Differing Roles in Aminoglycoside-Induced Hair Cell Death in Zebrafish. G3 (Bethesda). 2016;6:2225-35 pubmed publisher
    ..Danio rerio) we have found that mutations in multiple cilia genes implicated in intraflagellar transport (dync2h1, wdr35, ift88, and traf3ip), and the ciliary transition zone (cc2d2a, mks1, and cep290) lead to resistance to ..
  27. Ohara O, Nagase T, Mitsui G, Kohga H, Kikuno R, Hiraoka S, et al. Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method. DNA Res. 2002;9:47-57 pubmed
    ..Taking all these results together, we here conclude that this new method for the construction of size-fractionated cDNA libraries makes it possible to analyze cDNAs efficiently and comprehensively. ..
  28. Ichikawa M, Watanabe Y, Murayama T, Toyoshima Y. Recombinant human cytoplasmic dynein heavy chain 1 and 2: observation of dynein-2 motor activity in vitro. FEBS Lett. 2011;585:2419-23 pubmed publisher
    ..This is the first demonstration of dynein-2 motor activity, which supports the retrograde intraflagellar transport role of dynein-2. Our expression system of dynein HCs provides a useful means to investigate dynein functions. ..
  29. Kiando S, Barlassina C, Cusi D, Galan P, Lathrop M, Plouin P, et al. Exome sequencing in seven families and gene-based association studies indicate genetic heterogeneity and suggest possible candidates for fibromuscular dysplasia. J Hypertens. 2015;33:1802-10; discussion 1810 pubmed publisher
    ..003), dynein cytoplasmic heavy chain 1 (DYNC2H1, P = 0.02) and RNF213 previously associated with Moyamoya disease (P = 0.01)...
  30. Schmidts M, Arts H, Bongers E, Yap Z, Oud M, Antony D, et al. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet. 2013;50:309-23 pubmed publisher
    ..Mutations in intraflagellar transport (IFT) genes cause JATD, including the IFT dynein-2 motor subunit gene DYNC2H1. Genetic heterogeneity and the large DYNC2H1 gene size have hindered JATD genetic diagnosis...
  31. Asante D, MacCarthy Morrogh L, Townley A, Weiss M, Katayama K, Palmer K, et al. A role for the Golgi matrix protein giantin in ciliogenesis through control of the localization of dynein-2. J Cell Sci. 2013;126:5189-97 pubmed publisher
    ..Partial depletion of giantin or of WDR34 leads to an increase in cilia length consistent with the concept that giantin acts through dynein-2. Our data implicate giantin in ciliogenesis through control of dynein-2 localization. ..
  32. Chimusa E, Zaitlen N, Daya M, Möller M, van Helden P, Mulder N, et al. Genome-wide association study of ancestry-specific TB risk in the South African Coloured population. Hum Mol Genet. 2014;23:796-809 pubmed publisher
    ..This study provides insights into identifying disease genes and ancestry-specific disease risk in multi-way admixed populations. ..
  33. Cossu C, Incani F, Serra M, Coiana A, Crisponi G, Boccone L, et al. New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy. Clin Chim Acta. 2016;455:172-80 pubmed publisher
    ..The exome analysis allowed to identify mutations not previously reported in the DYNC2H1 (MIM 603297) and WDR60 (MIM 615462) genes, both codifying for ciliary intraflagellar transport components whose ..
  34. Pawlica P, Berthoux L. Cytoplasmic dynein promotes HIV-1 uncoating. Viruses. 2014;6:4195-211 pubmed publisher
    ..Results from these two complementary assays suggest that inhibiting dynein-mediated transport interferes with HIV-1 uncoating in infected cells, indicating the existence of a functional link between HIV-1 transport and uncoating. ..
  35. Yokota T, Kouno J, Adachi K, Takahashi H, Teramoto A, Matsumoto K, et al. Identification of histological markers for malignant glioma by genome-wide expression analysis: dynein, alpha-PIX and sorcin. Acta Neuropathol. 2006;111:29-38 pubmed
    ..Semi-quantitative RT-PCR experiments with 6 of those genes confirmed higher expression of DNCH2, ARHGEF6, NPM1 and SRI and lower expression of NRGN and TM4SF2 in GBM tumors...
  36. Gholkar A, Senese S, Lo Y, Capri J, Deardorff W, Dharmarajan H, et al. Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis. Cell Cycle. 2015;14:1116-25 pubmed publisher
    ..We propose that Tctex1d2 is a novel dynein light chain important for trafficking to the cilium and potentially retrograde IFT and is a new molecular link to understanding SRPS pathology. ..
  37. Badiner N, Taylor S, Forlenza K, Lachman R, Bamshad M, Nickerson D, et al. Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type. Clin Genet. 2017;92:158-165 pubmed publisher
    ..for mutations in DYNC2H1, which encodes the main component of the retrograde IFT A motor, cytoplasmic dynein 2 heavy chain 1. Thus SRP type I, II, III and asphyxiating thoracic dystrophy (ATD), which also result from DYNC2H1 ..
  38. Chen L, Shi S, Zou P, Ma M, Chen X, Cao D. Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing. Genet Mol Res. 2016;15: pubmed publisher
    ..However, next-generation panel sequencing identified novel mutations in the DYNC2H1 gene. The fetus was compound heterozygous for both a missense mutation c.8313A > T and a frameshift mutation c...
  39. Lukic Z, Dharan A, Fricke T, Diaz Griffero F, Campbell E. HIV-1 uncoating is facilitated by dynein and kinesin 1. J Virol. 2014;88:13613-25 pubmed publisher
    ..Targeting these factors may either directly inhibit infection or delay it enough to trigger mediators of intrinsic immunity that recognize cytoplasmic capsid or DNA and subsequently induce an antiviral state in these cells. ..
  40. Pawlica P, Dufour C, Berthoux L. Inhibition of microtubules and dynein rescues human immunodeficiency virus type 1 from owl monkey TRIMCyp-mediated restriction in a cellular context-specific fashion. J Gen Virol. 2015;96:874-86 pubmed publisher
    ..These results suggested the existence of cell-specific functional interactions between MTs/dynein and TRIMCyp. ..
  41. Mei L, Huang Y, Pan Q, Su W, Quan Y, Liang D, et al. Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III. Clin Chim Acta. 2015;447:47-51 pubmed publisher
    ..226 known genes implicated in inherited skeletal dysplasia, we identified compound heterozygous mutations in the DYNC2H1 gene in the fetus with short rib-polydactyly syndrome, type III (SRPS III), c.1151 C>T(p.Ala384Val) and c...
  42. Koehler M, Schmid M, Neesen J. Chromosomal localization of the human cytoplasmic dynein heavy chain gene DNCH2 to 11q21-->q22.1. Cytogenet Cell Genet. 1998;82:123-5 pubmed
  43. Qiao Y, Wen J, Tang F, Martell S, Shomer N, Leung P, et al. Whole exome sequencing in recurrent early pregnancy loss. Mol Hum Reprod. 2016;22:364-72 pubmed publisher
    ..We identified compound heterozygous deleterious mutations affecting DYNC2H1 and ALOX15 in two out of four families with RPL. Both genes have a role in early development...
  44. Okamoto T, Nagaya K, Kawata Y, Asai H, Tsuchida E, Nohara F, et al. Novel compound heterozygous mutations in DYNC2H1 in a patient with severe short-rib polydactyly syndrome type III phenotype. Congenit Anom (Kyoto). 2015;55:155-7 pubmed publisher
    ..Mutations in DYNC2H1 have been identified in both of these disorders, indicating that they are variants of a single disorder...
  45. Wu C, Xu B, Yuan P, Miao X, Liu Y, Guan Y, et al. Genome-wide interrogation identifies YAP1 variants associated with survival of small-cell lung cancer patients. Cancer Res. 2010;70:9721-9 pubmed publisher
    ..SNP within the promoter region of YAP1 on chromosome 11q22 and rs716274 A>G SNP in the region of downstream of DYNC2H1 on chromosome 11q22.3 are associated with small-cell lung cancer survival...