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Gene : DYNC2H1 Homo sapiens

Name  ? dynein cytoplasmic 2 heavy chain 1 Cytological Location  11q22.3
Brief Description  dynein cytoplasmic 2 heavy chain 1
Description  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]
  • synonyms:
  • OTTHUMG00000165941,
  • DHC2,
  • dynein, cytoplasmic, heavy polypeptide 2,
  • DNCH2,
  • hdhc11,
  • AB082528,
  • SRTD3,
  • DYH1B,
  • DHC1b,
  • hdhc11,
  • NM_001080463,
  • DHC2,
  • HGNC:2962,
  • DNCH2,
  • SRPS2B,
  • DYNC2H1,
  • DYH1B,
  • ATD3,
  • uc001phn.2,
  • DHC1b
  • identifiers:
  • 79659,
  • ENSG00000187240,
  • DYNC2H1

Genome feature

Region: gene ? Length: 370438  
Location: 11:103109426-103479863 Cyto location: 11q22.3


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Disease

1 Diseases

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3753 SN Ps

5 Cross References

20 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results