CITED2

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 3 with brain abnormalities, flow of urine from bladder to kidneys (vesicoureteral reflux), global developmental delay and atrial septal defect (read full description).

Date of Report

Sep 13, 2019

Full Name

Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2

Location
Chromosome 6 (6q24.1)


Function

The CITED2 gene codes for a protein that is a co-activator of TFAP2 and PPAR-alpha. It plays an important role in early embryogenesis and is necessary for normal neural tube and cardiac development (Bragança et al., 2003; Tien et al., 2004)

Database Links

GeneCards: GC06M139316

Genetics Home Reference: CITED2

NCBI Gene: 10370 

OMIM: 602937

UniProtKB/Swiss-Prot: Q99967

Clinical Significance

Changes in the CITED2 gene have been found in individuals with ventricular septal defect 2 and atrial septal defect 8 (OMIM).

The following de novo genetic change was identified in a UDN participant:

Gene CITED2
Inheritance Pattern Autosomal dominant
Position chr6:139694381
Transcript NM_006079.4
DNA Change c.701A>C
Protein Change p.Glu234Ala
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