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FLASH GENE
Symbol RASD2 contributors: mct/npt - updated : 03-06-2015
HGNC name RASD family, member 2
HGNC id 18229
Location 22q12.3      Physical location : 35.937.351 - 35.950.043
Synonym name
  • tumor endothelial marker 2
  • GTP-binding protein Rhes
  • Ras homolog enriched in striatum
  • Synonym symbol(s) RHES, TEM2, MGC:4834
    DNA
    TYPE functioning gene
    STRUCTURE 12.70 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC388895 22 LOC388895 LOC388896 22 hypothetical gene supported by BX537993 COX7BP1 22q13 cytochrome c oxidase subunit VIIb pseudogene 1 HMG2L1 22q13.1 high-mobility group protein 2-like 1 LOC388897 22 LOC388897 TOM1 22q13.1 target of myb1 (chicken) HMOX1 22q13.1 heme oxygenase (decycling) 1 MCM5 22q13.1 MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae) RASD2 22q13.1 RASD family, member 2 MB 22q13.1 myoglobin LOC284912 22q13.1 hypothetical gene supported by BC001801 APOL6 22q13.1 apolipoprotein L, 6 MRPS16P3 22q12-q13.1 apolipoprotein L, 6 APOL5 22q13.1 apolipoprotein L, 5 RBM9 22q13.1 RNA binding motif protein 9 RPL41P3 22q13.1 ribosomal protein L41, pseudogene 3 NDUFA9P1 22q12.3 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, pseudogene 1 APOL3 22q13.1 apolipoprotein L, 3 APOL4 22q13.1 apolipoprotein L, 4 APOL2 22q13.1 apolipoprotein L, 2 APOL1 22q13.1 apolipoprotein L, 1 MYH9 22q13.1 myosin, heavy polypeptide 9, non-muscle LOC388898 22 LOC388898 TXN2 22q13.1 thioredoxin 2 FLJ23322 22q13.1 hypothetical protein FLJ23322 EIF3S7 22q13.1 eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa CACNG2 22q13.1 calcium channel, voltage-dependent, gamma subunit 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 3047 - 266 - 2004 14724584
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainforebraincerebral cortex   Homo sapiens
     brainbasal nucleistriatum highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivecartilage   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an extended variable domain in the C-terminal region (Vargiu 2004)
  • mono polymer monomer
    HOMOLOGY
    interspecies homolog to murine Rasd2 (95.1pc)
    homolog to rattus Rasd2 (95.1pc)
    Homologene
    FAMILY
  • small GTPase superfamily
  • ras family
  • RasD family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • may be playing a role in mediating signal transduction
  • GTPase activity
  • may be involved in mediating the insulin secretory response to efaroxan
  • impairs the activation of the cAMP/PKA pathway by thyroid-stimulating hormone, and by an activated beta2 adrenergic receptor by a mechanism that suggests uncoupling of the receptor to its cognate heterotrimeric complex (Vargiu 2004)
  • involvement of Rhes in cAMP/PKA signalling pathway, at a level proximal to the activation of heterotrimeric G-protein complex
  • is an important modulator of dopaminergic transmission in the striatum
  • small monomeric G protein which functions in a variety of cellular processes, including attenuation of G protein-coupled receptor (GPCR) signalling (Hill 2009)
  • is likely a novel striatal regulator of the AKT-mediated pathway in the striatum
  • acts as an E3 ligase for attachment of SUMO (small ubiquitin-like modifier)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • with RASD1, RASD2 define a new group of Ras-like monomeric G proteins (Thapliyal 2008)
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GTP binding
  • protein
  • binding to mHtt (mutant Huntingtin) and induces sumoylation leading to the cytotoxicity (Subramaniam 2009)
  • binds to and activates PI3K (Vargiu 2004)
  • binds selectively to GNB1, GNB2 and GNB3 subunits (Hill 2009)
  • RASD1 with RASD2 modulate Ca(2+) influx through Ca(V)2.2 channels under more physiological conditions and thereby influence Ca(2+)-dependent events such as neurosecretion (Thapliyal 2008)
  • binds directly to both E1 and UBE2I, enhancing cross-sumoylation as well as thioester transfer from E1 to UBE2I
  • also binds and activates MTOR, enhancing its influence on protein synthesis, and may be the principal determinant of striatal MTOR activation
  • exerts some of its effects by interacting with G(alpha) i
  • striatal-specific protein, binding to and activates MTOR
  • interacts with PIK3R1, the regulatory subunit of PI3K
  • may be a co-factor with mutant huntingtin in cell death
  • robustly binds the autophagy regulator BECN1, decreasing its inhibitory interaction with BCL2 independent of MAPK8 signaling
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerativehuntington chorea
    drugs that block or inhibit the actions of RASD2 may be useful as the first treatments for Huntington disease
    ANIMAL & CELL MODELS
  • Rhes -/- mice weighed less than wild type mice and displayed minor behavioral abnormalities (Spano 2004)
  • Rhes(-/-) mice showed reduced striatal MTOR signaling and diminished dyskinesia, but maintained motor improvement on L-DOPA treatment
  • Rhes-deleted mice are dramatically protected from neurodegeneration and motor dysfunction in mouse models of Huntington disease