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

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; 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

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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

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.
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.
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.
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.
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.
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.
Rhes is reduced in the brains of Huntington's disease patients.
Title: Reinstating aberrant mTORC1 activity in Huntington's disease mice improves disease phenotypes.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

EC 3.6.5.2

NP_001363444.1

EC 3.6.5.2

NP_001363445.1

EC 3.6.5.2

NP_055125.2

EC 3.6.5.2

XP_011528342.1

EC 3.6.5.2

XP_016884191.1

EC 3.6.5.2

XP_054181372.1

EC 3.6.5.2

XP_054181373.1

EC 3.6.5.2

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)

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)
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)
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)
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

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

35532806..35553999

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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

NC_060946.1 Alternate T2T-CHM13v2.0

Range

35991542..36012893

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

O95520, Q5THY8, Q96D21
XM_054325398.1 → XP_054181373.1 GTP-binding protein Rhes isoform X1

UniProtKB/Swiss-Prot

O95520, Q5THY8, Q96D21