Dynein, Cytoplasmic 2, Heavy Chain 1 (DYNC2H1)

DHC1b; DHC2; DNCH2; DYH1B; hdhc11; Dynein heavy chain isotype 1B; Dynein heavy chain 11; Dynein cytoplasmic heavy chain 2; Cytoplasmic dynein 2 heavy chain

SPN	O543
HGNC	2962
MGI	107736
PubMed	23456818
RGD	71042
UniProt	Q8NCM8
Wiki	DYNC2H1

DYNC2H1 encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins.

The light intermediate chains, with molecular masses of 55 to 59 kD, are unique to cytoplasmic dynein and contain consensus ATPase elements. Both axonemal and cytoplasmic dyneins also contain light chains of 8 to 25 kD.

Reference

"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles."
J. Cell Biol. 133:831-842(1996) [PubMed] [Europe PMC] [Abstract]

"Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins."
Mol. Biol. Cell 5:57-70(1994) [PubMed] [Europe PMC] [Abstract]

"Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene."
Gene 200:193-202(1997) [PubMed] [Europe PMC] [Abstract]

"The full-ORF clone resource of the German cDNA consortium."
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]

"Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method."
DNA Res. 9:47-57(2002) [PubMed] [Europe PMC] [Abstract]

"Genetic analysis of the cytoplasmic dynein subunit families."
PLoS Genet. 2:11-26(2006) [PubMed] [Europe PMC] [Abstract]

"NEK1 mutations cause short-rib polydactyly syndrome type majewski."
Am. J. Hum. Genet. 88:106-114(2011) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome."
Am. J. Hum. Genet. 84:542-549(2009) [PubMed] [Europe PMC] [Abstract]

"DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III."
Am. J. Hum. Genet. 84:706-711(2009) [PubMed] [Europe PMC] [Abstract]

"NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases."
J. Med. Genet. 49:227-233(2012) [PubMed] [Europe PMC] [Abstract]

"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. 50:309-323(2013) [PubMed] [Europe PMC] [Abstract]