SYNGAP1 vs. SynGAP: What’s the difference?

Posted on:

How to write about the gene and protein associated with SYNGAP1-Related Disorders (SRD)

You’ll come across a lot of different terminology when researching SYNGAP1. Given the frequent use of these terms within our community, we thought it imperative to provide a brief explanation to clarify their meanings and appropriate usage. We cover SYNGAP1 genes in multiple organisms, SynGAP protein, and alternate names of SYNGAP1-Related Disorders. 

SYNGAP1 is used when referring to the gene in people. All human gene names should be written in all capital letters and italicized

The SYNGAP1 gene makes a protein called SynGAP. The protein name, given by Dr. Huganir’s group in 1998, is derived from a combination of ‘Synapse,’ indicating the location from which it was purified and its role in synaptic function, and ‘GAP,’ which stands for GTPase-Activating protein, which is the largest of several functional domains found in the gene by sequence homology. This protein is essential for proper communication between neurons in the brain.

The specific disease caused by pathogenic variants in SYNGAP1 is called SYNGAP1-Related Disorders (SRD). Previous names for this disorder have included: MRD5, SYNGAP1 NSID, SYNGAP1 NDD, SYNGAP1 developmental & epileptic encephalopathy (DEE), SYNGAP1 Syndrome, SYNGAP1-Related Intellectual Disability (SRID), ADID5 or IDDAD5. This condition leads to various neurological issues, including autism spectrum disorder (ASD), intellectual disability (ID), epilepsy, hypotonia (low muscle tone), gross and fine motor delays, gastrointestinal challenges, disordered sleep, and visual abnormalities such as strabismus (crossed eyes).

For more detailed information on the name of this disease, you can listen to SYNGAP10 Episode 133 where we walk through this.

What about other animals?

When you read about SYNGAP1 research, you are bound to notice that gene names in model organisms follow their own rules. In the mice (e.g. Syngap1L813RfsX22, Syngap1Lc.3583-9G>A) refers to a particular variant that mimics a patient variant within the mouse Syngap1 gene. Back to human nomenclature, the mouse made by Ben Prosser that has replaced the entire mouse Syngap1 gene location (35 thousand bases of DNA) with the corresponding DNA (33 thousand bases of DNA from human) is called SYNGAP1hu. In the zebrafish, syngap1a and syngap1b are correctly written out; raskol is one of a few SYNGAP1-related genes in fruit flies.