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 protei... See more...

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
  • TEM2 2 3 4
  • GTP-Binding Protein Rhes 3 4
  • Rhes 2 3
  • RASD Family, Member 2 2
  • MGC:4834 2
  • RASD2 5

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. Gene Ontology (GO) annotations related to this gene include GTP binding and ubiquitin conjugating enzyme binding. An important paralog of this gene is RASD1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for RASD2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RASD2 Gene

Genomics for RASD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RASD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J035540 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 643.8 +8.1 8095 2.2 HNRNPL BACH1 LARP7 PRDM1 ZIC2 PATZ1 EZH2 ZNF600 ZNF341 ZFX RASD2 MCM5 EIF3D HMGXB4 RPS15AP38 RF00017-3824 MB
GH22J035535 Enhancer 0.8 Ensembl ENCODE 37.3 +3.8 3795 2.4 HNRNPL SP1 CEBPA FOXA2 FOS YY1 GABPA JUND NR2F2 SPI1 RASD2 MB RF00017-3824
GH22J035586 Enhancer 1.4 VISTA Ensembl ENCODE dbSUPER 17.2 +58.0 57972 8.4 PRDM10 ZNF629 ZNF512 KDM1A ZNF692 JUND PRDM1 ZIC2 PKNOX1 PATZ1 LOC107985590 HSALNG0135169 HMGXB4 EIF3D RPS15AP38 RASD2 MCM5 MB APOL6 HSALNG0135166
GH22J035583 Enhancer 1.1 Ensembl ENCODE dbSUPER 16.5 +50.5 50472 1 CTCF TEAD4 ZNF143 ZIC2 REST RAD21 TRIM22 IRF3 SCRT2 RELA RASD2 MB HSALNG0135166 LOC107985590 RF00017-3824
GH22J035620 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 +89.0 89033 3.4 CTCF RFX1 KDM1A FOXA1 ZNF143 POLR2A REST RAD21 SP1 BRD9 APOL6 RASD2 RBFOX2 ENSG00000268818 MB HSALNG0135169
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RASD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RASD2

Top Transcription factor binding sites by QIAGEN in the RASD2 gene promoter:
  • AREB6
  • E47
  • Egr-4
  • Oct-B1
  • oct-B2
  • Pax-4a
  • POU2F1
  • POU2F1a
  • PPAR-alpha
  • RFX1

Genomic Locations for RASD2 Gene

Genomic Locations for RASD2 Gene
chr22:35,532,806-35,554,003
(GRCh38/hg38)
Size:
21,198 bases
Orientation:
Plus strand
chr22:35,936,915-35,950,048
(GRCh37/hg19)
Size:
13,134 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.
    SequenceCaution:
    • Sequence=AAG00868.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    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.

neXtProt entry for RASD2 Gene

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

No data available for DME Specific Peptides for RASD2 Gene

Domains & Families for RASD2 Gene

Gene Families for RASD2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RASD2 Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature
  • Ras small GTPase, Ras type
ProtoNet:

Suggested Antigen Peptide Sequences for RASD2 Gene

GenScript: Design optimal peptide antigens:
  • Tumor endothelial marker 2 (RHES_HUMAN)

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.

Phenotypes From GWAS Catalog for RASD2 Gene

Gene Ontology (GO) - Molecular Function for RASD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity NAS 11976265
GO:0005525 GTP binding IEA --
GO:0031624 ubiquitin conjugating enzyme binding IEA --
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RASD2

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RASD2 gene
Compartment Confidence
plasma membrane 5
cytosol 4
mitochondrion 3
nucleus 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RASD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane ISS --
GO:0016020 membrane IEA --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with RASD2: view

Pathways & Interactions for RASD2 Gene

PathCards logo

SuperPathways for RASD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RASD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001963 synaptic transmission, dopaminergic IEA --
GO:0007165 signal transduction IEA --
GO:0007626 locomotory behavior IEA,ISS --
GO:0031397 negative regulation of protein ubiquitination IEA --
GO:0033235 positive regulation of protein sumoylation 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

4 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RASD2

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

No ASD Table

Relevant External Links for RASD2 Gene

GeneLoc Exon Structure for
RASD2

Expression for RASD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for RASD2 Gene



Protein tissue co-expression partners for RASD2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RASD2

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).

Evidence on tissue expression from TISSUES for RASD2 Gene

  • Heart(4.3)
  • Nervous system(2.5)
genes like me logo Genes that share expression patterns with RASD2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RASD2 Gene

Orthologs for RASD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RASD2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RASD2 30 31
  • 99.62 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RASD2 31
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia RASD2 30 31
  • 93.36 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RASD2 30 31
  • 93.23 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rasd2 30
  • 89.47 (n)
Mouse
(Mus musculus)
Mammalia Rasd2 30 17 31
  • 88.6 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RASD2 31
  • 87 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RASD2 30 31
  • 81.33 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RASD2 31
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rasd2 30
  • 75.44 (n)
Str.12074 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.24880 30
Zebrafish
(Danio rerio)
Actinopterygii zgc:114118 31
  • 33 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta EG:BACR37P7.8 32
  • 38 (a)
CG8641 31 32
  • 30 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea D1081.4 31
  • 27 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 32 (a)
ManyToMany
Species where no ortholog for RASD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RASD2: view image

Paralogs for RASD2 Gene

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

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

Variants for RASD2 Gene

Additional dbSNP identifiers (rs#s) for RASD2 Gene

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

Variant ID Type Subtype PubMed ID
esv1010711 CNV gain 20482838
nsv588949 CNV loss 21841781
nsv817990 CNV gain 17921354
nsv834184 CNV loss 17160897

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)

Additional Variant Information for RASD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RASD2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP 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
  • hd
- elite association - COSMIC cancer census association via MalaCards
Search RASD2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RASD2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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. Identification of the monomeric G-protein, Rhes, as an efaroxan-regulated protein in the pancreatic beta-cell. (PMID: 11976265) Chan SL … Morgan NG (British journal of pharmacology 2002) 3 4 23
  2. Genes expressed in human tumor endothelium. (PMID: 10947988) St Croix B … Kinzler KW (Science (New York, N.Y.) 2000) 2 3 4
  3. The cationic region of Rhes mediates its interactions with specific Gbeta subunits. (PMID: 19255495) Hill C … Davey J (Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2009) 3 4
  4. RASD2, MYH9, and CACNG2 genes at chromosome 22q12 associated with the subgroup of schizophrenia with non-deficit in sustained attention and executive function. (PMID: 18571626) Liu YL … Hwu HG (Biological psychiatry 2008) 3 41
  5. Rhes expression in pancreatic beta-cells is regulated by efaroxan in a calcium-dependent process. (PMID: 16945334) Taylor JP … Chan SL (Biochemical and biophysical research communications 2006) 3 23

Products for RASD2 Gene

  • Signalway Proteins for RASD2

Sources for RASD2 Gene