GRIN2A

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 4 with seizures and global developmental delay (read full description).

Date of Report

Jul 01, 2019

Full Name

glutamate ionotropic receptor NMDA type subunit 2A

Location
Chromosome 16 (16p13.2)


Function

The GRIN2A gene codes for the GluN2A protein, which is a subunit of the N-methyl-D-aspartate (NMDA) receptor. The NMDA receptor is a neurotransmitter-gated ion channel that plays a role in the functioning of synapses in the brain  (Endele et al., 2010).

Database Links

GeneCards: GC16M009753

Genetics Home Reference: GRIN2A

NCBI Gene: 2903

OMIM: 138253

UniProtKB/Swiss-Prot: Q12879

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 GRIN2A
Inheritance Pattern Autosomal dominant
Position Chr16:9858480
Transcript NM_000833
DNA Change c.2921A>G
Protein Change p.N974S
Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!

Top