SYNGAP1 Chromosome 6
Synaptic Ras GTPase activating protein 1
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What This Gene Does
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]
Gene Info
Gene Group
"C2 and RasGAP domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
6p21.32
Ensembl
ENSG00000197283
Associated Conditions (28)
Intellectual disability
autosomal dominant 5
Inborn genetic diseases
Complex neurodevelopmental disorder
SYNGAP1-related disorder
Hereditary ataxia
Neurodevelopmental disorder
Global developmental delay
See cases
Preauricular skin tag
Delayed speech and language development
Generalized hypotonia
Stereotypic movement disorder
Cerebellar ataxia
Absent speech
Epileptic encephalopathy
Motor delay
Atypical behavior
Seizure
Neurodevelopmental delay
+8 more conditions
Key Variants
RS1025271834
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 5, Inborn genetic diseases
Health Risk
RS1038956173
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 5, Intellectual disability
Health Risk
RS1060503384
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 5, Intellectual disability
Health Risk
RS1200128322
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 5, Intellectual disability
Health Risk
RS1202720979
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 5, Intellectual disability
Health Risk
RS1226093664
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 5, Intellectual disability
Health Risk
RS1226494061
Conflicting classifications of pathogenicity
Complex neurodevelopmental disorder, Intellectual disability, autosomal dominant 5
Health Risk
RS1292609217
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 5, Inborn genetic diseases
Health Risk
RS1306253222
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 5, SYNGAP1-related disorder
Health Risk
RS1358028598
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 5, Intellectual disability
Health Risk
RS1374327029
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 5, Intellectual disability
Health Risk
RS1385831038
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 5, Inborn genetic diseases
Health Risk
All Variants (447)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2537452533 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS2537453391 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS2537453727 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS2537453921 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS2537459268 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS2537475263 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS2537475927 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS371883908 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS397514741 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 5, Complex neurodevelopmental disorder |
| RS397515320 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS576589974 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS587780470 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS587780474 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS746224733 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS749188610 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 5, Complex neurodevelopmental disorder |
| RS763386280 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS797045012 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS797046028 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS797046029 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS797046030 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS797046031 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS863224930 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS869312677 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS869312955 | Health Risk | Pathogenic | Inborn genetic diseases, Intellectual disability, autosomal dominant 5 |
| RS879253762 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS1057518352 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 5, Complex neurodevelopmental disorder |
| RS1057519546 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS1060503383 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 5, 13 conditions |
| RS1064795331 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS1554121202 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1554121206 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS1554121960 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS1554122249 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS1554122296 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS1554122455 | Health Risk | Pathogenic/Likely pathogenic | Complex neurodevelopmental disorder, Intellectual disability, autosomal dominant 5 |
| RS1561781989 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Intellectual disability, autosomal dominant 5 |
| RS1562869207 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS1581987268 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 5, Seizure |
| RS1581997098 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1761021165 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS1761087122 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS2151172644 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 5, Inborn genetic diseases |
| RS2151172748 | Health Risk | Pathogenic/Likely pathogenic | SYNGAP1-related encephalopathy, Intellectual disability, autosomal dominant 5 |
| RS2537261082 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS2537422319 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 5, Intellectual disability |
| RS397514670 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 5, Inborn genetic diseases |
| RS869312674 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 5, SYNGAP1-related disorder |