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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
  • TEM2 3 4
  • GTP-Binding Protein Rhes 3
  • RASD Family, Member 2 2
  • 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 RASD1.

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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G035535 1 Ensembl ENCODE 37.3 -4.3 -4310 1.4 MAX CEBPG RAD21 YY1 HNF4G FOS CEBPB GABPA NR2F2 FOXA1 RASD2 MB ENSG00000273044
GH22G035586 1.8 VISTA Ensembl ENCODE dbSUPER 17.2 +50.0 49958 7.8 PKNOX1 SIN3A FEZF1 ZNF2 ZNF121 GLIS2 FOS KLF7 ZNF263 REST HMGXB4 RASD2 MB RPS15AP38 APOL6 ENSG00000268818
GH22G035583 1.3 Ensembl ENCODE dbSUPER 16.5 +42.8 42755 0.5 CTCF TEAD4 IRF3 KLF17 MAX ZIC2 ZNF48 RAD21 RELA ZFHX2 RASD2 MB ENSG00000268818
GH22G035601 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12 +65.2 65249 7.7 ZNF133 ZSCAN4 RFX5 TCF12 ZNF121 ZNF766 RCOR1 FOS CREM EGR2 APOL6 MB RASD2 HMGXB4 TOM1 HMOX1 ENSG00000268818
GH22G035409 1.4 Ensembl ENCODE dbSUPER 11.7 -129.6 -129627 3.0 HDGF PKNOX1 FOXA2 WRNIP1 SIN3A NFXL1 YBX1 RAD21 ZNF143 RELB RASD2 MCM5 PIR40259
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000145699 82 801 KLF17 GLI4 ZNF121 GLIS2 ZNF366 EGR2 SP3 GATAD2B ZNF398 ZNF592
ENSR00000301768 782 201 MAZ SUZ12 ZNF394 ZBTB8A ZIC2 GLIS2 GLIS1 ZNF341 ZBTB20 EZH2

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

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

Antibody Products

  • Abcam antibodies for RASD2

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: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
GO:0043548 phosphatidylinositol 3-kinase binding IEA --
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

Inhibitory RNA Products

Clone 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
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
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for RASD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RASD2: view

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:0001963 synaptic transmission, dopaminergic IEA --
GO:0007165 signal transduction IEA --
GO:0007264 small GTPase mediated signal transduction IC 11976265
GO:0007626 locomotory behavior IEA,ISS --
GO:0031397 negative regulation of protein ubiquitination IEA --
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:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for RASD2 Gene



Protein tissue co-expression partners for RASD2 Gene

NURSA nuclear receptor signaling pathways regulating expression of RASD2 Gene:

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)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with RASD2: view

Primer Products

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 34 35
  • 99.62 (n)
oppossum
(Monodelphis domestica)
Mammalia RASD2 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RASD2 34 35
  • 93.36 (n)
cow
(Bos Taurus)
Mammalia RASD2 34 35
  • 93.23 (n)
rat
(Rattus norvegicus)
Mammalia Rasd2 34
  • 89.47 (n)
mouse
(Mus musculus)
Mammalia Rasd2 34 16 35
  • 88.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RASD2 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves RASD2 34 35
  • 81.33 (n)
lizard
(Anolis carolinensis)
Reptilia RASD2 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rasd2 34
  • 75.44 (n)
Str.12074 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.24880 34
zebrafish
(Danio rerio)
Actinopterygii zgc:114118 35
  • 33 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG8641 36 35
  • 48 (a)
EG:BACR37P7.8 36
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea D1081.4 35
  • 27 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 32 (a)
ManyToMany
Species where no ortholog for RASD2 was found in the sources mined by GeneCards:
  • 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
rs1000160776 -- 35,550,623(+) AGGCA(A/G)TGTGG intron-variant
rs1000212787 -- 35,551,000(+) TGCAA(A/G)GTAAT intron-variant
rs1000541005 -- 35,539,165(+) AAGTC(C/T)CAGGC upstream-variant-2KB
rs1000923296 -- 35,539,209(+) CAATA(G/T)CATAC upstream-variant-2KB
rs1001101938 -- 35,545,316(+) AAAGC(A/G)CCTTG intron-variant, utr-variant-5-prime

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)

Relevant External Links for RASD2 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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. 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 4 22 64
  2. Genes expressed in human tumor endothelium. (PMID: 10947988) St Croix B. … Kinzler K.W. (Science 2000) 2 3 4 64
  3. The cationic region of Rhes mediates its interactions with specific Gbeta subunits. (PMID: 19255495) Hill C. … Davey J. (Cell. Physiol. Biochem. 2009) 3 4 64
  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 Y.L. … Hwu H.G. (Biol. Psychiatry 2008) 3 46 64
  5. 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 22 64

Products for RASD2 Gene

Sources for RASD2 Gene

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