HRAS HRas proto-oncogene, GTPase

Gene ID: 3265, updated on 2-Nov-2024
Gene type: protein coding
Also known as: CTLO; HAMSV; HRAS1; RASH1; p21ras; C-H-RAS; H-RASIDX; C-BAS/HAS; C-HA-RAS1

Summary

This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, cognitive disability, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Costello syndrome MedGen: C0587248OMIM: 218040GeneReviews: HRAS-Related Costello Syndrome	See labs
Epidermal nevus MedGen: C0334082OMIM: 162900GeneReviews: PIK3CA-Related Overgrowth Spectrum	See labs
Large congenital melanocytic nevus MedGen: C1842036OMIM: 137550GeneReviews: Not available	See labs
Linear nevus sebaceous syndrome MedGen: C4552097OMIM: 163200GeneReviews: Not available	See labs
Malignant tumor of urinary bladder MedGen: C0005684OMIM: 109800GeneReviews: Not available	See labs
Thyroid cancer, nonmedullary, 2 MedGen: C4225426OMIM: 188470GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2024-07-15) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2024-07-15) ClinGen Genome Curation Page

Genomic context

Location:: 11p15.5

Sequence:: Chromosome: 11; NC_000011.10 (532242..535576, complement)

Total number of exons:: 7

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for HRAS variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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