Information on NRAS
Basic details
Alt. symbols: N-ras
Approved name: NRAS proto-oncogene, GTPase
Alt. names: neuroblastoma RAS viral (v-ras) oncogene homolog, neuroblastoma RAS viral oncogene homolog
Location: 1p13.2: 114704469 - 114716771 (-)
Gene type: protein_coding, 1 transcripts.
Scores: LoFtool: | pLI: 0.91277290 | LOEUF: 0.612
Normal function
The NRAS gene encodes a protein called N-Ras that is primarily involved in regulating cell division. Through signal transduction, the protein relays proliferative or maturation signals from outside the cell to the cell's nucleus, so that the cells can grow and divide, maturate, or differentiate. The N-Ras protein is a GTPase, which means it converts GTP into GDP, and acts like a switch, being turned on and off by the GTP and GDP molecules. To transmit signals, the N-Ras protein must be turned on (bound to GTP). The N-Ras protein is turned off (inactivated) when it converts the GTP to GDP. When the protein is bound to GDP, it does not relay signals to the cell's nucleus. NRAS belongs to the group of oncogenes, which when mutated, have the potential to cause normal cells to become cancerous. Specifically, NRAS belongs to the Ras family of oncogenes, which also includes HRAS and KRAS. The proteins produced from these three genes are GTPases. These proteins play important roles in cell division, cell differentiation, and apoptosis.
Dysfunction and disease
Germline heterozygous mutations in this gene have been associated with Noonan syndrome type 6 [MIM:613224]. However, somatic mutations have been associated with autoimmune lymphoproliferative syndrome, Epidermal nevus, Giant congenital melanocytic nevus and with many types of cancers, including melanomas, lung cancers, cholangiocarcinomas, and acute myeloid leukemias. [Load More]
[Reviewed by Andrés Caballero-Oteyza on 2021-06-24 14:33:22]
Associated conditions
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of NRAS
Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
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201 | ENST00000369535.5 | 1 | CCDS877 | Select | protein_coding | 7 | Yes | 4326 | NM_002524 |
Published variants
Found 0 variants
Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
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Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
References linked to variants in NRAS
ID | Year | Title | Journal | PMID | Variants |
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