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

Gene ID: 23551, updated on 5-Mar-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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Location:
22q12.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (35532806..35553999)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (35991542..36012893)
105.20220307 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
  • 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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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_2023_10

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

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