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Aliases for RASD2 Gene

Aliases for RASD2 Gene

  • RASD Family Member 2 2 3 5
  • Ras Homolog Enriched In Striatum 2 3 4
  • Tumor Endothelial Marker 2 2 3 4
  • RASD Family, Member 2 2 3
  • TEM2 3 4
  • MGC:4834 3
  • Rhes 3

External Ids for RASD2 Gene

Previous GeneCards Identifiers for RASD2 Gene

  • GC22P032586
  • GC22P034209
  • GC22P034261
  • GC22P035936
  • GC22P018896

Summaries for RASD2 Gene

Entrez Gene Summary for RASD2 Gene

  • 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]

GeneCards Summary for RASD2 Gene

RASD2 (RASD Family Member 2) is a Protein Coding gene. Diseases associated with RASD2 include Huntington Disease. GO annotations related to this gene include GTP binding and ubiquitin conjugating enzyme binding. An important paralog of this gene is RAP2B.

UniProtKB/Swiss-Prot for RASD2 Gene

  • GTPase signaling protein that binds to and hydrolyzes GTP. Regulates signaling pathways involving G-proteins-coupled receptor and heterotrimeric proteins such as GNB1, GNB2 and GNB3. May be involved in selected striatal competencies, mainly locomotor activity and motor coordination.

Gene Wiki entry for RASD2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RASD2 Gene

Genomics for RASD2 Gene

Regulatory Elements for RASD2 Gene

Enhancers for RASD2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RASD2 on UCSC Golden Path with GeneCards custom track

Promoters for RASD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RASD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for RASD2 Gene

Chromosome:
22
Start:
35,540,518 bp from pter
End:
35,554,002 bp from pter
Size:
13,485 bases
Orientation:
Plus strand

Genomic View for RASD2 Gene

Genes around RASD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RASD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RASD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RASD2 Gene

Proteins for RASD2 Gene

  • Protein details for RASD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96D21-RHES_HUMAN
    Recommended name:
    GTP-binding protein Rhes
    Protein Accession:
    Q96D21
    Secondary Accessions:
    • O95520
    • Q5THY8

    Protein attributes for RASD2 Gene

    Size:
    266 amino acids
    Molecular mass:
    30366 Da
    Quaternary structure:
    • Monomer (Potential). Interacts with PIK3CA and UBE2I (By similarity). Interacts with GNB1, GNB2 and GNB3. Interacts with HTT; interacts with mutant HTT (mHTT) with a much higher affinity than wild type HTT.
    Miscellaneous:
    • Reduces cell survival in striatal cells with Huntington disease by binding to mutant Huntington disease protein (mHTT; poly-Gln region with 82 repeats) and inducing sumoylation of mHTT.
    SequenceCaution:
    • Sequence=AAG00868.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for RASD2 Gene

Proteomics data for RASD2 Gene at MOPED

Post-translational modifications for RASD2 Gene

  • Farnesylated. Farnesylation is required for membrane targeting (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RASD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RASD2 Gene

Domains & Families for RASD2 Gene

Gene Families for RASD2 Gene

Suggested Antigen Peptide Sequences for RASD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96D21

UniProtKB/Swiss-Prot:

RHES_HUMAN :
  • Belongs to the small GTPase superfamily. RasD family.
Family:
  • Belongs to the small GTPase superfamily. RasD family.
genes like me logo Genes that share domains with RASD2: view

Function for RASD2 Gene

Molecular function for RASD2 Gene

UniProtKB/Swiss-Prot Function:
GTPase signaling protein that binds to and hydrolyzes GTP. Regulates signaling pathways involving G-proteins-coupled receptor and heterotrimeric proteins such as GNB1, GNB2 and GNB3. May be involved in selected striatal competencies, mainly locomotor activity and motor coordination.

Gene Ontology (GO) - Molecular Function for RASD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031681 G-protein beta-subunit binding IPI 19255495
genes like me logo Genes that share ontologies with RASD2: view
genes like me logo Genes that share phenotypes with RASD2: view

Animal Models for RASD2 Gene

MGI Knock Outs for RASD2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RASD2 Gene

Localization for RASD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RASD2 Gene

Cell membrane; Lipid-anchor.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RASD2 Gene COMPARTMENTS Subcellular localization image for RASD2 gene
Compartment Confidence
plasma membrane 5
cytosol 4
mitochondrion 3
chloroplast 1

No data available for Gene Ontology (GO) - Cellular Components for RASD2 Gene

Pathways & Interactions for RASD2 Gene

SuperPathways for RASD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RASD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006913 nucleocytoplasmic transport IEA --
GO:0007165 signal transduction IEA --
GO:0015031 protein transport IEA --
GO:0031397 negative regulation of protein ubiquitination IEA --
GO:0051897 positive regulation of protein kinase B signaling IEA,ISS --
genes like me logo Genes that share ontologies with RASD2: view

No data available for Pathways by source and SIGNOR curated interactions for RASD2 Gene

Drugs & Compounds for RASD2 Gene

(1) Drugs for RASD2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RASD2: view

Transcripts for RASD2 Gene

mRNA/cDNA for RASD2 Gene

Unigene Clusters for RASD2 Gene

RASD family, member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RASD2 Gene

No ASD Table

Relevant External Links for RASD2 Gene

GeneLoc Exon Structure for
RASD2
ECgene alternative splicing isoforms for
RASD2

Expression for RASD2 Gene

mRNA expression in normal human tissues for RASD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RASD2 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x12.9), Brain - Caudate (basal ganglia) (x9.3), and Brain - Nucleus accumbens (basal ganglia) (x6.6).

Protein differential expression in normal tissues from HIPED for RASD2 Gene

This gene is overexpressed in Pancreatic juice (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RASD2 Gene



SOURCE GeneReport for Unigene cluster for RASD2 Gene Hs.474711

mRNA Expression by UniProt/SwissProt for RASD2 Gene

Q96D21-RHES_HUMAN
Tissue specificity: Pancreatic endocrine cells (islets of Langerhans).
genes like me logo Genes that share expression patterns with RASD2: view

Protein tissue co-expression partners for RASD2 Gene

Primer Products

Orthologs for RASD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RASD2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RASD2 35
  • 93.23 (n)
  • 98.5 (a)
RASD2 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RASD2 35
  • 93.36 (n)
  • 97.74 (a)
RASD2 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rasd2 35
  • 88.6 (n)
  • 95.11 (a)
Rasd2 16
Rasd2 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RASD2 35
  • 99.62 (n)
  • 100 (a)
RASD2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rasd2 35
  • 89.47 (n)
  • 95.11 (a)
oppossum
(Monodelphis domestica)
Mammalia RASD2 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RASD2 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves RASD2 35
  • 81.33 (n)
  • 90.23 (a)
RASD2 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RASD2 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rasd2 35
  • 75.44 (n)
  • 86.09 (a)
Str.12074 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.24880 35
zebrafish
(Danio rerio)
Actinopterygii zgc:114118 36
  • 33 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG8641 37
  • 48 (a)
EG:BACR37P7.8 37
  • 38 (a)
CG8641 36
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea D1081.4 36
  • 27 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
ManyToMany
Species with no ortholog for RASD2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RASD2 Gene

ENSEMBL:
Gene Tree for RASD2 (if available)
TreeFam:
Gene Tree for RASD2 (if available)

Paralogs for RASD2 Gene

(22) SIMAP similar genes for RASD2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with RASD2: view

Variants for RASD2 Gene

Sequence variations from dbSNP and Humsavar for RASD2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs2092195 -- 35,539,428(+) GTCCA(A/G)GGATC upstream-variant-2KB
rs2272860 -- 35,541,304(+) ACCTG(C/T)CCCTT intron-variant, upstream-variant-2KB
rs2272861 -- 35,541,521(+) ACAGA(A/G)CTGGG intron-variant, upstream-variant-2KB
rs2281120 -- 35,547,761(+) AGGCA(C/T)GTGCC intron-variant
rs2281121 -- 35,547,843(+) tctcc(A/T)gacct intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RASD2 Gene

Variant ID Type Subtype PubMed ID
nsv834184 CNV Loss 17160897
nsv817990 CNV Gain 17921354
esv1010711 CNV Gain 20482838

Variation tolerance for RASD2 Gene

Residual Variation Intolerance Score: 35.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.56; 30.15% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for RASD2 Gene

Disorders for RASD2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RASD2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
huntington disease
  • congenital anomalies of kidney and urinary tract 2
- elite association - COSMIC cancer census association via MalaCards
Search RASD2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RASD2

Genetic Association Database (GAD)
RASD2
Human Genome Epidemiology (HuGE) Navigator
RASD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RASD2
genes like me logo Genes that share disorders with RASD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RASD2 Gene

Publications for RASD2 Gene

  1. Genes expressed in human tumor endothelium. (PMID: 10947988) St Croix B. … Kinzler K.W. (Science 2000) 2 3 4 67
  2. Rhes expression in pancreatic beta-cells is regulated by efaroxan in a calcium-dependent process. (PMID: 16945334) Taylor J.P. … Chan S.L. (Biochem. Biophys. Res. Commun. 2006) 3 23
  3. The small GTP-binding protein, Rhes, regulates signal transduction from G protein-coupled receptors. (PMID: 14724584) Vargiu P. … Bernal J. (Oncogene 2004) 2 3
  4. Identification of the monomeric G-protein, Rhes, as an efaroxan- regulated protein in the pancreatic beta-cell. (PMID: 11976265) Chan S.L.F. … Morgan N.G. (Br. J. Pharmacol. 2002) 3 23
  5. Rhes: A striatal-specific Ras homolog related to Dexras1. (PMID: 10467249) Falk J.D. … Sutcliffe J.G. (J. Neurosci. Res. 1999) 2 3

Products for RASD2 Gene

Sources for RASD2 Gene

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