INSYN2B
Inhibitory Synaptic Factor 2B
Gene Information Card
| Symbol | INSYN2B |
|---|---|
| Full Name | inhibitory synaptic factor 2B |
| Gene Type | protein-coding |
| Chromosomal Location | 10q26.3 |
| NCBI Gene ID | 100506658 ncbi.nlm.nih.gov/gene/100506658 |
| Ensembl ID | ENSG00000280071 |
| UniProt ID | A0A1B0GTV5 |
| OMIM ID | - |
| HGNC ID | HGNC:53709 |
| Aliases | C10orf67, bA203J24.7, INSYN2 |
Description
INSYN2B (inhibitory synaptic factor 2B) is a protein-coding gene located on chromosome 10q26.3. It encodes a component of the inhibitory postsynaptic density and is involved in the clustering of GABAergic receptors at inhibitory synapses. The protein interacts with gephyrin and neuroligin-2 to regulate inhibitory synaptic transmission.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered inhibitory synaptic function; INSYN2B variants may affect GABAergic signaling | PMID: 30804558 |
| Autism spectrum disorder | Disruption of inhibitory synapse formation; INSYN2B mutations linked to synaptic imbalance | PMID: 31073128 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebral cortex | 15.3 | Medium |
| Cerebellum | 8.7 | Low |
| Testis | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 10.1 | Neuronal cell line |
| U-87 MG | 2.4 | Glioblastoma cell line |
| HEK 293 | 0.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.215G>A (p.Arg72His) | Missense | <0.01% | Unknown functional effect |
| c.340C>T (p.Arg114*) | Nonsense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutation p.Arg114* likely leads to nonsense-mediated decay and loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • synaptic transmission | • GABAergic |
| • inhibitory synapse assembly | • GABA receptor clustering |
| • postsynaptic density |
Pathways
• GABAergic synapse
• Protein-protein interactions at synapses
Protein Summary
INSYN2B is a 245-amino acid protein that localizes to inhibitory postsynaptic sites. It contains a conserved INSYN domain that mediates binding to gephyrin and neuroligin-2, facilitating the clustering of GABA-A receptors. The protein is essential for proper inhibitory synaptic function and plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INSYN2B Knockout HEK293 Cell Line | EDJ-KQ13847 | Human | 100131897 | Details Get a Quote |
| INSYN2B Knockout HeLa Cell Line | EDJ-KQ43687 | Human | 100131897 | Details Get a Quote |
| INSYN2B Knockout A-549 Cell Line | EDJ-KQ69296 | Human | 100131897 | Details Get a Quote |
| INSYN2B Knockout HCT 116 Cell Line | EDJ-KQ77653 | Human | 100131897 | Details Get a Quote |
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