RASD2 - RASD family member 2 Gene

Also Known as Rhes; TEM2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23551

About RASD2

Cytogenetic location: 22q12.3 Genomic coordinates (GRCh38): 22:35,532,806-35,553,999 (from NCBI)

This gene has 1 transcript (splice variant), 126 orthologues and 35 paralogues. Broad expression in prostate (RPKM 3.2), brain (RPKM 2.7) and 18 other tissues.

Summary

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]

RASD2 Products (4)

mRNA Protein Name
NM_001366725.1 NP_001353654.1 GTP-binding protein Rhes precursor
NM_001376515.1 NP_001363444.1 GTP-binding protein Rhes precursor
NM_001376516.1 NP_001363445.1 GTP-binding protein Rhes precursor
NM_014310.4 NP_055125.2 GTP-binding protein Rhes precursor
Molecular Function GO Annotation Evidence References Source
enables G-protein beta-subunit binding IPI
IPI: Inferred from physical interaction
19255495 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RASD2 Protein Structure

Ras

Ras: Ras family (21 - 187)

  • 0
  • 100
  • 200
  • 266 a.a.
Protein Preferred Names Protein Names

GTP-binding protein Rhes

  • Ras homolog enriched in striatum

Related Diseases

Diseases Alias
Huntington Disease
  • Huntington'S Disease

  • Huntington Chorea

  • Huntington'S Chorea

  • HD

  • Huntington Chronic Progressive Hereditary Chorea

  • Juvenile Huntington Disease

  • Chronic Progressive Chorea

  • Chronic Progressive Hereditary Chorea

  • Hc - [Huntington Chorea]

  • Hereditary Chorea

  • Progressive Hereditary Chorea

Prostate Calculus
  • Calculus Of Prostate

  • Prostatic Lithiasis

  • Stone Of Prostate

  • Prostatic Stone

  • Prostate Calculi

  • Prostatolithiasis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta RASD2 VGNC VGNC:107922
Mus musculus RASD2 MGD MGI:1922391
Canis familiaris RASD2 VGNC VGNC:45365
Rattus norvegicus RASD2 RGD RGD:628594
Bos taurus RASD2 VGNC VGNC:33741
Others RASD2 NCBI