Gene Gene information from NCBI Gene database.
Entrez ID 23551
Gene name RASD family member 2
Gene symbol RASD2
Synonyms (NCBI Gene)
RhesTEM2
Chromosome 22
Chromosome location 22q12.3
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 prote
miRNA miRNA information provided by mirtarbase database.
78
miRTarBase ID miRNA Experiments Reference
MIRT448097 hsa-miR-3928-3p PAR-CLIP 22100165
MIRT448095 hsa-miR-4804-3p PAR-CLIP 22100165
MIRT448096 hsa-miR-4720-3p PAR-CLIP 22100165
MIRT448094 hsa-miR-3915 PAR-CLIP 22100165
MIRT448093 hsa-miR-1224-5p PAR-CLIP 22100165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001963 Process Synaptic transmission, dopaminergic IEA
GO:0003924 Function GTPase activity IEA
GO:0003924 Function GTPase activity NAS 11976265
GO:0005525 Function GTP binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612842 18229 ENSG00000100302
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96D21
Protein name GTP-binding protein Rhes (Ras homolog enriched in striatum) (Tumor endothelial marker 2)
Protein function GTPase signaling protein that binds to and hydrolyzes GTP. Regulates signaling pathways involving G-proteins-coupled receptor and heterotrimeric proteins such as GNB1, GNB2 and GNB3. May be involved in selected striatal competencies, mainly loco
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 21 191 Ras family Domain
Tissue specificity TISSUE SPECIFICITY: Pancreatic endocrine cells (islets of Langerhans). {ECO:0000269|PubMed:11976265}.
Sequence
Sequence length 266
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
SCHIZOPHRENIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autism Spectrum Disorder Autism Pubtator 30886340 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 24374073
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 15761964
★☆☆☆☆
Found in Text Mining only
Complete atrioventricular block Complete Atrioventricular Block BEFREE 29131246
★☆☆☆☆
Found in Text Mining only
Dyskinetic syndrome Dyskinetic Syndrome BEFREE 22179112
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy Pubtator 37192718 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 37192718 Associate
★☆☆☆☆
Found in Text Mining only
Huntington Disease Huntington Disease BEFREE 21779398, 31638189
★☆☆☆☆
Found in Text Mining only
Huntington Disease Huntington disease Pubtator 21779398 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 24374073
★☆☆☆☆
Found in Text Mining only