NR2C2

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

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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: NR2C2

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 (hg19) chr3:g.15055160C>A

Transcript NM_003298.5

DNA Change c.194C>A

Protein Change p.Ser65Tyr

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