SYNGAP1 synaptic Ras GTPase activating protein 1
Gene ID: 8831, updated on 17-Sep-2024Gene type: protein coding
Also known as: MRD5; RASA1; RASA5; SYNGAP
- See all available tests in GTR for this gene
- Go to complete Gene record for SYNGAP1
- Go to Variation Viewer for SYNGAP1 variants
Summary
This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. The N-terminal domain of the protein contains a Ras-GAP domain, a pleckstrin homology domain, and a C2 domain that may be involved in binding of calcium and phospholipids. The C-terminal domain consists of a ten histidine repeat region, serine and tyrosine phosphorylation sites, and a T/SXV motif required for postsynaptic scaffold protein interaction. The encoded protein negatively regulates Ras, Rap and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor trafficking to the postsynaptic membrane to regulate synaptic plasticity and neuronal homeostasis. Allelic variants of this gene are associated with intellectual disability and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Intellectual disability, autosomal dominant 5 | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-11-09) ClinGen Genome Curation PagePubMedTriplosensitivity No evidence available (Last evaluated 2021-11-09) ClinGen Genome Curation Page |
Genomic context
- Location:
- 6p21.32
- Sequence:
- Chromosome: 6; NC_000006.12 (33418167..33453689)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SYNGAP1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SYNGAP1 database
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.