Gene
RRAS2
RAS related 2
- HGNC 17271↗(opens in a new tab)
- Ensembl gene ENSG00000133818↗(opens in a new tab)
- NCBI Gene 22800↗(opens in a new tab)
Summary
- Cytogenetic location
- 11p15.2
- Coordinates
- Chromosome 11: 14,277,922–14,359,183 (GRCh38)
- Exons
- 6 exons across 81.3 kb
- Protein
- 204 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- TC21
- MANE Select transcript
- ENST00000256196.9NM_012250.6
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Noonan Syndrome
- Autosomal dominant
Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Cardiac surveillance, developmental support, growth hormone therapy, genetic counseling, MEK inhibitor trials
- Noonan Syndrome and Noonan-Related Syndromes
A group of RAS pathway conditions, including Noonan, Costello, cardiofaciocutaneous and Legius syndromes, with variable heart defects, short stature and distinctive facial features.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Knowing about it supports heart, growth and developmental assessment.
Broader groupings
Hypertrophic Cardiomyopathy
- Autosomal dominant
One of 62 genes linked to it
A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How RRAS2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.3 kb of the gene's 81.3 kb; 615 of those bases code for the protein.
How a genome test reads RRAS2
7
positions in RRAS2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 81.3 kb of RRAS2, introns included, not only the 2.3 kb of exons.
Variants with a page (1)
The RRAS2 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| Q72L | c.215A>T | Exon 3 | 14,294,844 | Pathogenic | ★★★★3 stars out of 4 reviewed by expert panel |
Genes linked to the same conditions
- BRAFB-Raf proto-oncogene, serine/threonine kinaseShares 3 conditions
- ERFETS2 repressor factorShares 3 conditions
- KRASKRas proto-oncogene, GTPaseShares 3 conditions
- LZTR1leucine zipper like post translational regulator 1Shares 3 conditions
- MAPK1mitogen-activated protein kinase 1Shares 3 conditions
- MRASmuscle RAS oncogene homologShares 3 conditions
- NRASNRAS proto-oncogene, GTPaseShares 3 conditions
- PPP1CBprotein phosphatase 1 catalytic subunit betaShares 3 conditions
- PTPN11protein tyrosine phosphatase non-receptor type 11Shares 3 conditions
- RAF1Raf-1 proto-oncogene, serine/threonine kinaseShares 3 conditions
- RIT1Ras like without CAAX 1Shares 3 conditions
- SHOC2SHOC2 leucine rich repeat scaffold proteinShares 3 conditions
Traits linked to RRAS2
The Human Phenotype Ontology lists these as features of the rare conditions RRAS2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Cystic hygroma
- Downward slanting of the opening between the eyelids
- Full lower lip
- High forehead
- High palate
- Little lower jaw
- Midface retrusion
- Thickened skin folds of neck
Show 3 more traits
Abnormality of the musculoskeletal system
- Double-Jointed
- Funnel chest
- Muscle weakness
- Pigeon chest
- Wide rib cage
- Delayed bone maturation
- Low muscle tone
- Scoliosis
Show 3 more traits
Abnormality of the eye
- Bulging eye
- Drooping upper eyelid
- Wide-set eyes
- Blue eyes
- Cross-eyed
- Farsightedness
- Involuntary, rapid, rhythmic eye movements
- Inward turning cross eyed
Show 1 more trait
Abnormality of the nervous system
- Abnormal speech pattern
- Difficulty articulating speech
- Neurodevelopmental delay
- Chiari malformation
- Intellectual disability
- Mild global developmental delay
- Motor delay
- Specific learning disability
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). RRAS2 gene: RAS related 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/rras2
Dante Labs. RRAS2 gene: RAS related 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/rras2
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