Format

Send to:

Choose Destination

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

Gene ID: 23551, updated on 21-Dec-2019

Summary

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
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

Genomic context

See RASD2 in Genome Data Viewer
Location:
22q12.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (35532806..35554003)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (35936556..35950048)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene minichromosome maintenance complex component 5 Neighboring gene tRNA methyltransferase 11 homolog (S. cerevisiae) pseudogene Neighboring gene uncharacterized LOC107985590 Neighboring gene myoglobin

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
GTP-binding protein Rhes
Names
Ras homolog enriched in striatum
tumor endothelial marker 2

NCBI Reference Sequences (RefSeq)

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_001366725.1NP_001353654.1  GTP-binding protein Rhes precursor

    Status: REVIEWED

    Source sequence(s)
    AL022334
    Conserved Domains (1) summary
    cd04143
    Location:20266
    Rhes_like; Ras homolog enriched in striatum (Rhes) and activator of G-protein signaling 1 (Dexras1/AGS1)
  2. NM_001376515.1NP_001363444.1  GTP-binding protein Rhes

    Status: REVIEWED

    Source sequence(s)
    AL022334
  3. NM_001376516.1NP_001363445.1  GTP-binding protein Rhes

    Status: REVIEWED

    Source sequence(s)
    AL022334
  4. NM_014310.4NP_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
    Q96D21
    Related
    ENSP00000216127.4, ENST00000216127.5
    Conserved Domains (1) summary
    cd04143
    Location:20266
    Rhes_like; Ras homolog enriched in striatum (Rhes) and activator of G-protein signaling 1 (Dexras1/AGS1)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    35532806..35554003
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028702.1XP_016884191.1  GTP-binding protein Rhes isoform X2

    UniProtKB/Swiss-Prot
    Q96D21
    Conserved Domains (1) summary
    cd04143
    Location:20266
    Rhes_like; Ras homolog enriched in striatum (Rhes) and activator of G-protein signaling 1 (Dexras1/AGS1)
  2. XM_011530040.2XP_011528342.1  GTP-binding protein Rhes isoform X2

    See identical proteins and their annotated locations for XP_011528342.1

    UniProtKB/Swiss-Prot
    Q96D21
    Conserved Domains (1) summary
    cd04143
    Location:20266
    Rhes_like; Ras homolog enriched in striatum (Rhes) and activator of G-protein signaling 1 (Dexras1/AGS1)
  3. XM_017028701.1XP_016884190.1  GTP-binding protein Rhes isoform X1

    UniProtKB/Swiss-Prot
    Q96D21
    Conserved Domains (2) summary
    cd04143
    Location:32278
    Rhes_like; Ras homolog enriched in striatum (Rhes) and activator of G-protein signaling 1 (Dexras1/AGS1)
    smart00010
    Location:30203
    small_GTPase; Small GTPase of the Ras superfamily; ill-defined subfamily
Support Center