Gene Gene information from NCBI Gene database.
Entrez ID 54769
Gene name DIRAS family GTPase 2
Gene symbol DIRAS2
Synonyms (NCBI Gene)
Di-Ras2
Chromosome 9
Chromosome location 9q22.2
Summary DIRAS2 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004]
miRNA miRNA information provided by mirtarbase database.
220
miRTarBase ID miRNA Experiments Reference
MIRT512059 hsa-miR-8485 PAR-CLIP 20371350
MIRT512058 hsa-miR-7854-3p PAR-CLIP 20371350
MIRT512057 hsa-miR-6134 PAR-CLIP 20371350
MIRT512056 hsa-miR-625-5p PAR-CLIP 20371350
MIRT512055 hsa-miR-4723-5p PAR-CLIP 20371350
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:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IDA 12194967
GO:0003924 Function GTPase activity IEA
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607863 19323 ENSG00000165023
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96HU8
Protein name GTP-binding protein Di-Ras2 (EC 3.6.5.-) (Distinct subgroup of the Ras family member 2)
Protein function Displays low GTPase activity and exists predominantly in the GTP-bound form.
PDB 2ERX , 6NAZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 9 171 Ras family Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain. {ECO:0000269|PubMed:12194967}.
Sequence
Sequence length 199
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLADDER EXSTROPHY GWAS catalog
★★☆☆☆
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
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 21750579, 27364329 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 21750579, 27364329, 29488099
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar disorder Pubtator 21750579 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 36407085 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 35173535 Inhibit
★☆☆☆☆
Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders Disruptive, impulse control, and conduct disorders Pubtator 21750579 Associate
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease Pubtator 21750579 Associate
★☆☆☆☆
Found in Text Mining only