Gene Gene information from NCBI Gene database.
Entrez ID 22800
Gene name RAS related 2
Gene symbol RRAS2
Synonyms (NCBI Gene)
NS12TC21
Chromosome 11
Chromosome location 11p15.2
Summary This gene encodes a member of the R-Ras subfamily of Ras-like small GTPases. The encoded protein associates with the plasma membrane and may function as a signal transducer. This protein may play an important role in activating signal transduction pathway
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs113954997 T>A,C Pathogenic Missense variant, 5 prime UTR variant, coding sequence variant
rs782457908 C>T Pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
rs1591495767 ->ACGCCGCCC Pathogenic Genic upstream transcript variant, coding sequence variant, inframe insertion, upstream transcript variant, intron variant
rs1591495776 ->CCCCCGCCG Pathogenic Genic upstream transcript variant, coding sequence variant, inframe insertion, upstream transcript variant, intron variant
rs1591495779 C>A Pathogenic Genic upstream transcript variant, coding sequence variant, upstream transcript variant, missense variant, intron variant
miRNA miRNA information provided by mirtarbase database.
322
miRTarBase ID miRNA Experiments Reference
MIRT022861 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT025875 hsa-miR-7-5p Sequencing 20371350
MIRT028141 hsa-miR-93-5p Sequencing 20371350
MIRT029816 hsa-miR-26b-5p Microarray 19088304
MIRT031260 hsa-miR-19b-3p Sequencing 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
BTF3 Repression 17312387
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000166 Function Nucleotide binding IEA
GO:0001649 Process Osteoblast differentiation HDA 16210410
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IDA 31130282
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600098 17271 ENSG00000133818
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P62070
Protein name Ras-related protein R-Ras2 (EC 3.6.5.2) (Ras-like protein TC21) (Teratocarcinoma oncogene)
Protein function GTP-binding protein with GTPase activity, involved in the regulation of MAPK signaling pathway and thereby controlling multiple cellular processes (PubMed:31130282, PubMed:31130285, PubMed:39809765). Regulates craniofacial development (PubMed:31
PDB 2ERY , 9B4Q , 9B4S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 16 177 Ras family Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously present in all tissues examined, with the highest levels in heart, placenta, and skeletal muscle. Moderate levels in lung and liver; low levels in brain, kidney, and pancreas. {ECO:0000269|PubMed:8052619}.
Sequence
Sequence length 204
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  MAPK signaling pathway
Ras signaling pathway
cAMP signaling pathway
Phospholipase D signaling pathway
Mitophagy - animal
Autophagy - animal
Cellular senescence
Apelin signaling pathway
C-type lectin receptor signaling pathway
Regulation of actin cytoskeleton
Proteoglycans in cancer
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Adenocarcinoma of the large intestine Likely pathogenic; Pathogenic rs2493951813 RCV006254361
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Central nervous system germ cell tumor Pathogenic rs1591495779 RCV006254325
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Germinoma Likely pathogenic; Pathogenic rs2134048726, rs1591495779 RCV006254311
RCV006254148
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan syndrome Likely pathogenic; Pathogenic rs2134048726, rs113954997, rs782457908, rs1591495767, rs1591495776, rs1591495779 RCV003153250
RCV000852398
RCV000852397
RCV000852399
RCV000852395
View all (1 more)
★★★★★
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
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Embryonal rhabdomyosarcoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS, EXPERIMENTAL CTD
★★☆☆☆
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
Astrocytoma Astrocytoma Pubtator 24148564 Stimulate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 10557073, 19047159, 9703274
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24148564 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 20811707, 24148564
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma GENOMICS_ENGLAND_DG
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 37942564 Associate
★☆☆☆☆
Found in Text Mining only
Esophageal carcinoma Esophageal Carcinoma BEFREE 22919244
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophagus Neoplasm BEFREE 22919244
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophageal neoplasm Pubtator 22919244 Associate
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 22919244 Associate
★☆☆☆☆
Found in Text Mining only