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    RASD2 RASD family member 2 [ Homo sapiens (human) ]

    Gene ID: 23551, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RASD2provided by HGNC
    Official Full Name
    RASD family member 2provided by HGNC
    Primary source
    HGNC:HGNC:18229
    See related
    Ensembl:ENSG00000100302 MIM:612842; AllianceGenome:HGNC:18229
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Rhes; TEM2
    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]
    Expression
    Broad expression in prostate (RPKM 3.2), brain (RPKM 2.7) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RASD2 in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (35532806..35553999)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (35991542..36012893)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (35928853..35950046)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18908 Neighboring gene minichromosome maintenance complex component 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:35821835-35822340 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:35822341-35822848 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:35822849-35823354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35831135-35831636 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18909 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:35844065-35845031 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:35845032-35845997 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:35874918-35875095 Neighboring gene tRNA methyltransferase subunit 11-2 pseudogene 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35935540-35936102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35936103-35936665 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35936666-35937228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35945090-35945800 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:35948337-35949316 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:35957537-35958268 Neighboring gene uncharacterized LOC107985590 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35976583-35977082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35979057-35979558 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:35985272-35986247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35987987-35988548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35994347-35995088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36001614-36002114 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13659 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36018115-36018630 Neighboring gene Sharpr-MPRA regulatory region 11360 Neighboring gene myoglobin

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Involvement of the Protein Ras Homolog Enriched in the Striatum, Rhes, in Dopaminergic Neurons' Degeneration: Link to Parkinson's Disease. Serra M, et al. Int J Mol Sci, 2021 May 18. PMID 34070217, Free PMC Article
    2. Rhes expression in pancreatic beta-cells is regulated by efaroxan in a calcium-dependent process. Taylor JP, et al. Biochem Biophys Res Commun, 2006 Oct 20. PMID 16945334
    3. MicroRNA-101 inhibits the expression of Rhes, a striatal-enriched small G-protein, at the post-transcriptional level in vitro. Mizuno H, et al. BMC Res Notes, 2018 Jul 31. PMID 30064488, Free PMC Article
    4. PKA modulates iron trafficking in the striatum via small GTPase, Rhes. Choi BR, et al. Neuroscience, 2013 Dec 3. PMID 23999124, Free PMC Article
    5. Rhes: A striatal-specific Ras homolog related to Dexras1. Falk JD, et al. J Neurosci Res, 1999 Sep 15. PMID 10467249

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Involvement of the Protein Ras Homolog Enriched in the Striatum, Rhes, in Dopaminergic Neurons' Degeneration: Link to Parkinson's Disease.
      Title: Involvement of the Protein Ras Homolog Enriched in the Striatum, Rhes, in Dopaminergic Neurons' Degeneration: Link to Parkinson's Disease.
    2. These regions have been used to design peptides aimed at inhibiting RHES interactions and, therefore, mHtt sumoylation; in turn, these peptides will be used to develop small molecule inhibitors by both rational design and virtual screening of large compound libraries.
      Title: Bioinformatics analysis of Ras homologue enriched in the striatum, a potential target for Huntington's disease therapy.
    3. results support the hypothesis that Rhes expression is regulated by miRNA and indicate that miR-101 may be a potent modulator of Rhes expression in striatal neurons.
      Title: MicroRNA-101 inhibits the expression of Rhes, a striatal-enriched small G-protein, at the post-transcriptional level in vitro.
    4. Study demonstrated that variation in the gene coding for RASD2 (rs6518956) affects in vivo prefrontal and striatal phenotypes in healthy human subjects that are relevant to schizophrenia
      Title: Rasd2 Modulates Prefronto-Striatal Phenotypes in Humans and 'Schizophrenia-Like Behaviors' in Mice.
    5. Rhes influences striatal cAMP/PKA-dependent signaling and synaptic plasticity in a gender-sensitive fashion
      Title: Rhes influences striatal cAMP/PKA-dependent signaling and synaptic plasticity in a gender-sensitive fashion.
    6. Findings reveal that ras homolog enriched in striatum is localized also in striatal cholinergic interneurons and, most importantly, lack of this G-protein, significantly alters dopamine D2 receptor modulation of striatal cholinergic excitability.
      Title: Rhes regulates dopamine D2 receptor transmission in striatal cholinergic interneurons.
    7. Rhes is reduced in the brains of Huntington's disease patients.
      Title: Reinstating aberrant mTORC1 activity in Huntington's disease mice improves disease phenotypes.
    8. The findings of this study suggested that Rhes may play a crucial role in striatal iron homeostasis.
      Title: PKA modulates iron trafficking in the striatum via small GTPase, Rhes.
    9. Rhes robustly binds the autophagy regulator Beclin-1, decreasing its inhibitory interaction with Bcl-2 independent of JNK-1 signaling.
      Title: Rhes, a striatal-selective protein implicated in Huntington disease, binds beclin-1 and activates autophagy.
    10. The sequestering of Rhes through its binding to mutant huntingtin may decrease the ability of Rhes to perform vital physiological functions in the striatum neurons of Huntington disease patients. (Review)
      Title: The role of Rhes, Ras homolog enriched in striatum, in neurodegenerative processes.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G-protein beta-subunit binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables G-protein beta-subunit binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in locomotory behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of protein sumoylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cAMP-mediated signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in synaptic transmission, dopaminergic IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    GTP-binding protein Rhes
    Names
    Ras homolog enriched in striatum
    tumor endothelial marker 2
    NP_001353654.1
    NP_001363444.1
    NP_001363445.1
    NP_055125.2
    XP_011528342.1
    XP_016884191.1
    XP_054181372.1
    XP_054181373.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001366725.1 → NP_001353654.1  GTP-binding protein Rhes precursor

      Status: REVIEWED

      Source sequence(s)
      AL022334
      Consensus CDS
      CCDS13916.1
      UniProtKB/Swiss-Prot
      O95520, Q5THY8, Q96D21
      Conserved Domains (1) summary
      cd04143
      Location:20 → 266
      Rhes_like; Ras homolog enriched in striatum (Rhes) and activator of G-protein signaling 1 (Dexras1/AGS1)

    2. NM_001376515.1 → NP_001363444.1  GTP-binding protein Rhes precursor

      Status: REVIEWED

      Source sequence(s)
      AL022334
      Consensus CDS
      CCDS13916.1
      UniProtKB/Swiss-Prot
      O95520, Q5THY8, Q96D21
      Conserved Domains (1) summary
      cd04143
      Location:20 → 266
      Rhes_like; Ras homolog enriched in striatum (Rhes) and activator of G-protein signaling 1 (Dexras1/AGS1)

    3. NM_001376516.1 → NP_001363445.1  GTP-binding protein Rhes precursor

      Status: REVIEWED

      Source sequence(s)
      AL022334
      Consensus CDS
      CCDS13916.1
      UniProtKB/Swiss-Prot
      O95520, Q5THY8, Q96D21
      Conserved Domains (1) summary
      cd04143
      Location:20 → 266
      Rhes_like; Ras homolog enriched in striatum (Rhes) and activator of G-protein signaling 1 (Dexras1/AGS1)

    4. NM_014310.4 → NP_055125.2  GTP-binding protein Rhes precursor

      See identical proteins and their annotated locations for NP_055125.2

      Status: REVIEWED

      Source sequence(s)
      AL022334, BC013419
      Consensus CDS
      CCDS13916.1
      UniProtKB/Swiss-Prot
      O95520, Q5THY8, Q96D21
      Related
      ENSP00000216127.4, ENST00000216127.5
      Conserved Domains (1) summary
      cd04143
      Location:20 → 266
      Rhes_like; Ras homolog enriched in striatum (Rhes) and activator of G-protein signaling 1 (Dexras1/AGS1)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      35532806..35553999
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028702.2 → XP_016884191.1  GTP-binding protein Rhes isoform X1

      UniProtKB/Swiss-Prot
      O95520, Q5THY8, Q96D21
      Conserved Domains (1) summary
      cd04143
      Location:20 → 266
      Rhes_like; Ras homolog enriched in striatum (Rhes) and activator of G-protein signaling 1 (Dexras1/AGS1)

    2. XM_011530040.3 → XP_011528342.1  GTP-binding protein Rhes isoform X1

      See identical proteins and their annotated locations for XP_011528342.1

      UniProtKB/Swiss-Prot
      O95520, Q5THY8, Q96D21
      Conserved Domains (1) summary
      cd04143
      Location:20 → 266
      Rhes_like; Ras homolog enriched in striatum (Rhes) and activator of G-protein signaling 1 (Dexras1/AGS1)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      35991542..36012893
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325397.1 → XP_054181372.1  GTP-binding protein Rhes isoform X1

      UniProtKB/Swiss-Prot
      O95520, Q5THY8, Q96D21

    2. XM_054325398.1 → XP_054181373.1  GTP-binding protein Rhes isoform X1

      UniProtKB/Swiss-Prot
      O95520, Q5THY8, Q96D21
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96D21.1 GenPept UniProtKB/Swiss-Prot:Q96D21

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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