• Gene id: 23551

Gene Summary

• Gene Symbol: RASD2   Gene   UCSC   Ensembl
• Aliases: Rhes, TEM2
• Gene name: RASD family member 2
• Alternate names: GTP-binding protein Rhes, Ras homolog enriched in striatum, tumor endothelial marker 2,
• Gene location: 22q12.3 (94063388: 94057921)     Exons: 3     NC_000003.12
• Gene summary(Entrez): 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 prote
• OMIM: 612842

Protein Summary

• Protein general information: Q96D21  
  • Name: GTP binding protein Rhes (Ras homolog enriched in striatum) (Tumor endothelial marker 2)
  • Length: 266  
  • Mass: 30366
  • Tissue specificity: Pancreatic endocrine cells (islets of Langerhans). {ECO
• Sequence:

  MMKTLSSGNCTLSVPAKNSYRMVVLGASRVGKSSIVSRFLNGRFEDQYTPTIEDFHRKVYNIRGDMYQLDILDTS
  GNHPFPAMRRLSILTGDVFILVFSLDNRESFDEVKRLQKQILEVKSCLKNKTKEAAELPMVICGNKNDHGELCRQ
  VPTTEAELLVSGDENCAYFEVSAKKNTNVDEMFYVLFSMAKLPHEMSPALHRKISVQYGDAFHPRPFCMRRVKEM
  DAYGMVSPFARRPSVNSDLKYIKAKVLREGQARERDKCTIQ

• Structural information:
  • Interpro: IPR027417  IPR005225  IPR001806  IPR020849  
  • Prosite: PS51421
  • STRING: ENSP00000216127
• Other Databases: GeneCards:  RASD2  Malacards:  RASD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033235	positive regulation of protein sumoylation	ISS	biological process
GO:0031681	G-protein beta-subunit binding	IPI	molecular function
GO:0031681	G-protein beta-subunit binding	IPI	molecular function
GO:0031681	G-protein beta-subunit binding	IPI	molecular function
GO:0007626	locomotory behavior	ISS	biological process
GO:0051897	positive regulation of protein kinase B signaling	ISS	biological process
GO:0043949	regulation of cAMP-mediated signaling	ISS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0051897	positive regulation of protein kinase B signaling	IEA	biological process
GO:0043949	regulation of cAMP-mediated signaling	IEA	biological process
GO:0031624	ubiquitin conjugating enzyme binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0007626	locomotory behavior	IEA	biological process
GO:0001963	synaptic transmission, dopaminergic	IEA	biological process
GO:0043548	phosphatidylinositol 3-kinase binding	IEA	molecular function
GO:0033235	positive regulation of protein sumoylation	IEA	biological process
GO:0031397	negative regulation of protein ubiquitination	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0003924	GTPase activity	NAS	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq