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

HGNC: 7989

NCBI: 4893, RefSeq: NG_007572.1

Ensembl: ENSG00000213281.5

LRG_92 | Status: public

OMIM: 164790

Expression | ProteinAtlas

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

Acronym Condition's_name MOI Mode_of_actionwww icon OMIM_ID No.cases
RALD2 RAS-associated autoimmune lymphoproliferative syndrome type IV Sodict. icon Gain of Function 614470www icon 0 (0 fams)
NS6 Noonan syndrome 6 ADdict. icon 613224www icon 0 (0 fams)

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
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

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

Year Paradigm ⓘ PMID Notes
- Regions of Homology -
2015Mosaicism25896945[somatic]
2019Mosaicism30273710[somatic]
-Cryptic splicing-Unreported or not recorded in our DB.
-Uniparental disomy-Unreported or not recorded in our DB.
-Incomplete penetrance-Unreported or not recorded in our DB.
-Di-/oligo-genic inheritance-Unreported or not recorded in our DB.
-Somatic reversion-Unreported or not recorded in our DB.

References linked to variants in NRAS

ID Year Title Journal PMID Variants

Phenotypic & functional assays available?

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