NR2C2

On this page, you will find information about a genetic change that was identified in a UDN participant. 

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 male, age 4 with global developmental delay, brain abnormalities, seizures, and hearing and vision loss (read full description).

Date of Report

Mar 30, 2020

Full Name

nuclear receptor subfamily 2, group c, member 2

Location
Chromosome 3 (3p25.1)


Function

The NR2C2 gene codes for a protein in the orphan nuclear receptor subclass. It binds as a homodimer to direct repeats of AGGTCA and functions both as a positive and negative regulator of transcription. It is thought that it is also involved in the recruitment of other transcription intermediary factors (Nakajima et al., 2004).

Database Links

GeneCards: GC03P014947

NCBI Gene: 7182

OMIM: 601426

UniProtKB/Swiss-Prot: P49116

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene NR2C2
Inheritance Pattern Autosomal dominant
Position chr3: 15055160
Transcript ENST00000323373.6
DNA Change c.194C>A
Protein Change p.Ser65Tyr
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