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: RRAS2

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

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