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
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

Genomic context

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_000022.11 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?

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.
Binding to the Gbeta subunits involves the cationic regions of AGS1 and Rhes, and Data used Rhes-AGS1 chimeras to show that their different cationic regions determine the Gbeta-specificity of the interactions.
Title: The cationic region of Rhes mediates its interactions with specific Gbeta subunits.
The genes RASD2 might be vulnerability genes for neuropsychologically defined subgroups of schizophrenic patients.
Title: RASD2, MYH9, and CACNG2 genes at chromosome 22q12 associated with the subgroup of schizophrenia with non-deficit in sustained attention and executive function.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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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Homology

Homologs of the RASD2 gene: The RASD2 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, and frog.
Orthologs from Annotation Pipeline: 223 organisms have orthologs with human gene RASD2
Orthologs

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

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Preferred Names: GTP-binding protein Rhes

Names: Ras homolog enriched in striatum; tumor endothelial marker 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

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

Status: REVIEWED

Source sequence(s)

AL022334
NM_001376516.1 → NP_001363445.1 GTP-binding protein Rhes

Status: REVIEWED

Source sequence(s)

AL022334
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

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: 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

NC_000022.11 Reference GRCh38.p13 Primary Assembly

Range

35532806..35554003

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

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_011530040.2 → XP_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:20 → 266

Rhes_like; Ras homolog enriched in striatum (Rhes) and activator of G-protein signaling 1 (Dexras1/AGS1)
XM_017028701.1 → XP_016884190.1 GTP-binding protein Rhes isoform X1

UniProtKB/Swiss-Prot

Q96D21

Conserved Domains (2) summary

cd04143
Location:32 → 278

Rhes_like; Ras homolog enriched in striatum (Rhes) and activator of G-protein signaling 1 (Dexras1/AGS1)

smart00010
Location:30 → 203

small_GTPase; Small GTPase of the Ras superfamily; ill-defined subfamily