Description: Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA. RefSeq Summary (NM_001080463): This gene 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. [provided by RefSeq, Jan 2010]. Transcript (Including UTRs) Position: hg19 chr11:102,980,160-103,350,591 Size: 370,432 Total Exon Count: 90 Strand: + Coding Region Position: hg19 chr11:102,980,304-103,349,981 Size: 369,678 Coding Exon Count: 90
Coronary Artery Disease John F Peden et al. Nature genetics 2011, A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease., Nature genetics.
[PubMed 21378988]
Hip Douglas P Kiel et al. BMC medical genetics 2007, Genome-wide association with bone mass and geometry in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903296]
The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.
Neutrophils Veron Ramsuran et al. Clinical infectious diseases 2011, Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women., Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.
[PubMed 21507922]
Pre-seroconversion neutrophil and platelet counts influence risk of HIV infection. The trait of Duffy-null-associated low neutrophil counts influences HIV susceptibility. Because of the high prevalence of this trait among persons of African ancestry, it may contribute to the dynamics of the HIV epidemic in Africa.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
Pfam Domains: PF03028 - Dynein heavy chain and region D6 of dynein motor PF07728 - AAA domain (dynein-related subfamily) PF08385 - Dynein heavy chain, N-terminal region 1 PF08393 - Dynein heavy chain, N-terminal region 2 PF12774 - Hydrolytic ATP binding site of dynein motor region D1 PF12775 - P-loop containing dynein motor region D3 PF12777 - Microtubule-binding stalk of dynein motor PF12780 - P-loop containing dynein motor region D4 PF12781 - ATP-binding dynein motor region D5
ModBase Predicted Comparative 3D Structure on Q8NCM8-2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
