INSYN2A
Inhibitory Synaptic Factor 2A
Gene Information Card
| Symbol | INSYN2A |
|---|---|
| Full Name | inhibitory synaptic factor 2A |
| Gene Type | protein-coding |
| Chromosomal Location | 10q26.3 |
| NCBI Gene ID | 100506334 ncbi.nlm.nih.gov/gene/100506334 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | A0A1B0GTV6 |
| OMIM ID | 618929 |
| HGNC ID | 44159 |
| Aliases | C10orf90, FAM196A |
Description
INSYN2A (inhibitory synaptic factor 2A) is a protein-coding gene located on chromosome 10q26.3. It encodes a protein involved in the regulation of inhibitory synapses, particularly in the central nervous system. The protein interacts with neuroligin-2 and gephyrin to promote the clustering of GABAergic receptors, thereby modulating synaptic inhibition.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered INSYN2A expression may disrupt GABAergic signaling, contributing to synaptic imbalance. | Association studies and expression analyses in postmortem brain tissue. |
| Autism Spectrum Disorder | Variants in INSYN2A may impair inhibitory synapse formation, affecting neural circuitry. | Genetic association and functional studies in neuronal models. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 3.2 | Medium |
| Testis | 1.1 | Low |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 2.8 | Neuronal cell line |
| HEK293 | 0.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.457C>T (p.Arg153Trp) | Missense | Rare | Unknown functional impact |
| c.1024G>A (p.Gly342Ser) | Missense | Rare | Predicted damaging by in silico tools |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data：
Gene Ontology (GO)
| • synaptic transmission | • GABAergic |
| • inhibitory synapse assembly | • protein binding |
Pathways
• GABAergic synapse
• Protein-protein interactions at synapses
Protein Summary
The INSYN2A protein is a transmembrane component of inhibitory synapses, where it facilitates the clustering of GABA-A receptors by interacting with neuroligin-2 and gephyrin. It is essential for proper inhibitory neurotransmission and synaptic plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INSYN2A Knockout HEK293 Cell Line | EDJ-KQ13846 | Human | 642938 | Details Get a Quote |
| INSYN2A Knockout HeLa Cell Line | EDJ-KQ60533 | Human | 642938 | Details Get a Quote |
| INSYN2A Knockout A-549 Cell Line | EDJ-KQ69003 | Human | 642938 | Details Get a Quote |
| INSYN2A Knockout HCT 116 Cell Line | EDJ-KQ77361 | Human | 642938 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
