DYNC2H1 (dynein cytoplasmic 2 heavy chain 1)

2007-02-01  

Identity

HGNC
LOCATION
11q22.3
LOCUSID
ALIAS
ATD3,DHC1b,DHC2,DNCH2,DYH1B,SRPS2B,SRTD3,hdhc11
FUSION GENES

Other Information

Locus ID:

NCBI: 79659
MIM: 603297
HGNC: 2962
Ensembl: ENSG00000187240

Variants:

dbSNP: 79659
ClinVar: 79659
TCGA: ENSG00000187240
COSMIC: DYNC2H1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187240ENST00000334267Q8NCM8
ENSG00000187240ENST00000375735Q8NCM8
ENSG00000187240ENST00000528670H0YDE0
ENSG00000187240ENST00000533197H0YEX1
ENSG00000187240ENST00000648198A0A3B3ISP9
ENSG00000187240ENST00000649323A0A3B3IT36
ENSG00000187240ENST00000650373Q8NCM8

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Vasopressin-regulated water reabsorptionKEGGko04962
Vasopressin-regulated water reabsorptionKEGGhsa04962
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Salmonella infectionKEGGko05132
Salmonella infectionKEGGhsa05132
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Intraflagellar transportREACTOMER-HSA-5620924
Signal TransductionREACTOMER-HSA-162582
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog 'off' stateREACTOMER-HSA-5610787

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164713176Platinum compoundsChemicalClinicalAnnotationassociatedPD21118971
PA449552etoposideChemicalClinicalAnnotationassociatedPD21118971

References

Pubmed IDYearTitleCitations
194427712009DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.73
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
193616152009Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.52
234568182013Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.47
240464482013A role for the Golgi matrix protein giantin in ciliogenesis through control of the localization of dynein-2.21
163200262006Identification of histological markers for malignant glioma by genome-wide expression analysis: dynein, alpha-PIX and sorcin.20
224993402012NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.20
217232852011Recombinant human cytoplasmic dynein heavy chain 1 and 2: observation of dynein-2 motor activity in vitro.12
261473842015Exome sequencing in seven families and gene-based association studies indicate genetic heterogeneity and suggest possible candidates for fibromuscular dysplasia.8
254103982015Novel compound heterozygous mutations in DYNC2H1 in a patient with severe short-rib polydactyly syndrome type III phenotype.6

Citation

Dessen P

DYNC2H1 (dynein cytoplasmic 2 heavy chain 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46142/dync2h1