RRAS2

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in this gene was identified in a female, age 5, with Noonan syndrome, systemic-onset juvenile idiopathic arthritis, and multiple congenital anomalies (read full description).

Date of Report

Nov 22, 2021

Full Name

RAS related 2

Location
Chromosome 11 (11p15.2)


Function

This gene encodes a protein that plays an important role in many cellular signaling pathways, including pathways that control cell growth and division, from development through adulthood (Larive et al., 2012).

Database Links

GeneCards: GC11M014299

NCBI Gene: 22800

OMIM: 600098

UniProtKB/Swiss-Prot: P62070

Clinical Significance

A change in this gene was identified in a UDN participant. Clinicians and researchers have identified the RRAS2 genetic change to be causing some of the participant’s symptoms:

Gene RRAS2
Inheritance Pattern Autosomal dominant
Position (hg19) chr11:g.14380343 _14380351dup
Transcript NM_012250.5
DNA Change c.70_78dup
Protein Change p.Gly24_Gly26dup
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