Signal transducer in the Ras-MAPK signaling pathway that regulates cell proliferation and survival (PubMed:22711838, PubMed:23698361). Ras proteins bind GDP/GTP and possess intrinsic GTPase activity (PubMed:20949621, PubMed:39809765). Activates MAPK1/MAPK3 resulting in phosphorylation and ultimately degradation of GJA1 (By similarity). Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner (PubMed:24623306). Recognized by LZTR1 that mediates its ubiquitination by a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex (PubMed:40934300). {ECO:0000250|UniProtKB:P08644, ECO:0000269|PubMed:20949621, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:23698361, ECO:0000269|PubMed:24623306, ECO:0000269|PubMed:39809765, ECO:0000269|PubMed:40934300}.
Chromosome
12
Biotype
protein_coding
Diseases
25
Variants
0
Also Known As
25 disease associations found
| Disease | Score | Therapeutic Areas |
|---|---|---|
| Noonan syndrome | 0.83 | cardiovascular disordergenetic, familial or congenital diseasehematologic disorderintegumentary system disorderimmune system disorderphenotypemusculoskeletal or connective tissue disease |
| Noonan syndrome 3 | 0.83 | cardiovascular disordergenetic, familial or congenital diseasehematologic disorderintegumentary system disorderimmune system disorderphenotypemusculoskeletal or connective tissue disease |
| cardiofaciocutaneous syndrome 2 | 0.82 | genetic, familial or congenital diseaseintegumentary system disordercardiovascular disordermusculoskeletal or connective tissue disease |
| cardiofaciocutaneous syndrome | 0.82 | genetic, familial or congenital diseaseintegumentary system disordercardiovascular disordermusculoskeletal or connective tissue disease |
| non-small cell lung carcinoma | 0.80 | respiratory or thoracic diseasecancer or benign tumor |
| gastric cancer | 0.77 | gastrointestinal diseasecancer or benign tumor |
| acute myeloid leukemia | 0.75 | hematologic disorderimmune system disordercancer or benign tumormusculoskeletal or connective tissue disease |
| linear nevus sebaceous syndrome | 0.74 | genetic, familial or congenital diseasenervous system disorderintegumentary system disorderphenotypecancer or benign tumordisorder of visual system |
| Toriello-Lacassie-Droste syndrome | 0.74 | integumentary system disordergenetic, familial or congenital disease |
| Linear nevus sebaceus syndrome | 0.73 | phenotypecancer or benign tumorintegumentary system disordergenetic, familial or congenital disease |
| RAS-associated autoimmune leukoproliferative disease | 0.72 | genetic, familial or congenital diseaseimmune system disorder |
| autoimmune lymphoproliferative syndrome type 4 | 0.72 | immune system disordergenetic, familial or congenital diseasecancer or benign tumor |
| lung adenocarcinoma | 0.70 | cancer or benign tumorrespiratory or thoracic disease |
| urinary bladder cancer | 0.70 | urinary system disordercancer or benign tumor |
| juvenile myelomonocytic leukemia | 0.69 | hematologic disorderimmune system disordercancer or benign tumormusculoskeletal or connective tissue disease |
3 drugs targeting this gene
GTPase KRas inhibitor
GTPase KRas inhibitor
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