SYNRG (SYNGAP1 Related Gene)
Gene encoding a Ras GTPase-activating protein involved in synaptic function and neuronal development
Gene Information Card
| Symbol | SYNRG |
|---|---|
| Full Name | SYNGAP1 related gene (pseudogene) |
| Gene Type | pseudogene |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 11277 ncbi.nlm.nih.gov/gene/11277 |
| Ensembl ID | ENSG00000204356 |
| UniProt ID | Q96J02 |
| OMIM ID | 603384 |
| HGNC ID | 11497 |
| Aliases | SYNGAP1P1, SYNGAP1-AS1 |
Description
SYNRG is a pseudogene located on chromosome 6p21.1, derived from the SYNGAP1 gene. It is not translated into a functional protein but may regulate SYNGAP1 expression through antisense transcription. SYNGAP1 encodes a Ras GTPase-activating protein critical for synaptic plasticity and cognitive function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Loss of SYNGAP1 function disrupts Ras signaling in synapses, impairing learning and memory | ClinVar |
| Epileptic encephalopathy | SYNGAP1 mutations cause hyperactive Ras signaling, leading to neuronal hyperexcitability | ClinVar |
| Autism spectrum disorder | SYNGAP1 haploinsufficiency alters synaptic maturation and social behavior | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.0 | Pseudogene, no protein expression |
| SH-SY5Y | 0.0 | Pseudogene, no protein expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | SNV | Rare | Non-coding, no functional effect |
| c.100C>T | SNV | Rare | Non-coding, no functional effect |
Mutation functional classification
Loss of Function (LOF)
Not applicable (pseudogene)
Gain of Function (GOF)
Not applicable (pseudogene)
Dominant Negative (DN)
Not applicable (pseudogene)
View complete mutation data：
Protein Summary
SYNRG is a pseudogene and does not encode a functional protein. Its parent gene SYNGAP1 produces a Ras GTPase-activating protein essential for synaptic Ras signaling, dendritic spine morphogenesis, and long-term potentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYNRG Knockout HEK293 Cell Line | EDJ-KQ7359 | Human | 11276 | Details Get a Quote |
| SYNRG Knockout A-549 Cell Line | EDJ-KQ32473 | Human | 11276 | Details Get a Quote |
| SYNRG Knockout HCT 116 Cell Line | EDJ-KQ32474 | Human | 11276 | Details Get a Quote |
| SYNRG Knockout HeLa Cell Line | EDJ-KQ32475 | Human | 11276 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
