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Gene : RASD2 Homo sapiens

Name  ? RASD family member 2 Cytological Location  22q12.3
Brief Description  RASD family member 2
Description  This gene belongs to the Ras superfamily of small GTPases and is enriched in the striatum. The encoded protein functions as an E3 ligase for attachment of small ubiquitin-like modifier (SUMO). This protein also binds to mutant huntingtin (mHtt), the protein mutated in Huntington disease (HD). Sumoylation of mHTT by this protein may cause degeneration of the striatum. The protein functions as an activator of mechanistic target of rapamycin 1 (mTOR1), which in turn plays a role in myelination, axon growth and regeneration. Reduced levels of mRNA expressed by this gene were found in HD patients. [provided by RefSeq, Jan 2016]
  • synonyms:
  • uc003anx.4,
  • HGNC:18229,
  • Ras homolog enriched in striatum,
  • NM_014310,
  • TEM2,
  • OTTHUMG00000150607,
  • AF279143,
  • RASD family, member 2,
  • Rhes,
  • tumor endothelial marker 2,
  • Rhes,
  • TEM2,
  • MGC:4834,
  • RASD2
  • identifiers:
  • 23551,
  • ENSG00000100302,
  • RASD2

Genome feature

Region: gene ? Length: 13510  
Location: 22:35540494-35554003 Cyto location: 22q12.3


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Disease

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0 Pathways

705 SN Ps

5 Cross References

14 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results