GSG1L
protein-codingGSG1 like
Gene summary
Predicted to be involved in regulation of cell communication; regulation of postsynaptic neurotransmitter receptor internalization; and regulation of signaling. Predicted to act upstream of or within several processes, including regulation of AMPA receptor activity; regulation of short-term neuronal synaptic plasticity; and transmission of nerve impulse. Predicted to be located in asymmetric synapse and membrane. Predicted to be active in postsynaptic density membrane. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~276.2 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to GSG1L variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001109763.2. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 28 | 28 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 28 | 0 | 0 | 28 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001103233.1 | 7 | MANE Select | |
| Ensembl | ENSP00000394954.2 | 7 | MANE Select | |
| RefSeq | NP_001310829.1 | 8 | Standard | |
| RefSeq | NP_001310830.1 | 6 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- regulation of postsynaptic neurotransmitter receptor internalization
- regulation of AMPA receptor activity
Molecular Function
- protein binding
Cellular Component
- plasma membrane
- cell junction
- Schaffer collateral - CA1 synapse
- glutamatergic synapse
- integral component of postsynaptic density membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000447459
- Coding exons
- 7
- Length
- 275981
- Individuals with no LoFs
- 125729
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 7
- Defined
- 125736
- p
- 0.0000278
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.05 | 114 | 150 | 0.759 | 0.00000927 | 2104 |
| Missense (PolyPhen) | 49 | 69.471 | 0.70533 | 954 | ||
| Synonymous | 0.334 | 61 | 64.4 | 0.947 | 0.00000448 | 649 |
| Loss of Function | 2.91 | 2 | 13.6 | 0.147 | 7.60e-7 | 161 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.000058 | 0.000058 | rare |
| Ashkenazi Jewish | 0.00010 | 0.000099 | rare |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000027 | 0.000026 | rare |
| South Asian | 0.000033 | 0.000033 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: As a component of the inner core of AMPAR complex, modifies AMPA receptor (AMPAR) gating. {ECO:0000250}.;
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.116
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |