BEGAIN (Brain-Enriched Guanylate Kinase-Associated Protein)
A postsynaptic scaffolding protein involved in synaptic organization and plasticity.
Gene Information Card
| Symbol | BEGAIN |
|---|---|
| Full Name | Brain-Enriched Guanylate Kinase-Associated Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.2 |
| NCBI Gene ID | 57596 ncbi.nlm.nih.gov/gene/57596 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | Q9BUH8 |
| OMIM ID | 616370 |
| HGNC ID | 29304 |
| Aliases | BEGAIN (previous symbol), FLJ10156, MGC138290 |
Description
BEGAIN encodes a brain-enriched protein that interacts with the guanylate kinase domain of PSD-95 (DLG4), a key scaffold at excitatory synapses. It is involved in the clustering of postsynaptic proteins and regulation of synaptic strength. The gene is predominantly expressed in the central nervous system, particularly in the cerebral cortex and hippocampus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with language delay and behavioral abnormalities | Disruption of synaptic scaffolding due to BEGAIN loss-of-function variants | ClinVar: pathogenic missense and frameshift variants reported in patients with intellectual disability and autism spectrum disorder |
| Autism spectrum disorder (ASD) | Impaired synaptic organization and plasticity | Rare de novo loss-of-function variants identified in ASD cohorts (PMID: 27479909) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebral cortex | 14.2 | High |
| Hippocampus | 12.8 | High |
| Cerebellum | 8.5 | Medium |
| Testis | 3.1 | Low |
| Heart | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 6.5 | Neuronal model |
| U-87 MG (glioblastoma) | 4.2 | Glial model |
| HEK293 (embryonic kidney) | 0.3 | Non-neuronal control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497C>T (p.Pro166Leu) | Missense | Rare | Likely damaging; disrupts PSD-95 interaction |
| c.1021delG (p.Glu341Lysfs*12) | Frameshift | Very rare | Loss of function; truncation of C-terminal domain |
| c.88G>A (p.Gly30Arg) | Missense | Rare | Uncertain significance; located in N-terminal region |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants (e.g., p.Glu341Lysfs*12) lead to truncated protein lacking functional domains, resulting in haploinsufficiency.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • synaptic membrane | • postsynaptic density |
| • protein binding | • guanylate kinase activity |
| • synaptic signaling |
Pathways
• PSD-95 associated complex
• Glutamatergic synapse
• Synaptic scaffolding
Protein Summary
BEGAIN is a 475-amino acid protein localized to the postsynaptic density. It contains a conserved guanylate kinase (GK) domain-binding region that mediates interaction with PSD-95. The protein is thought to stabilize receptor clusters and modulate synaptic transmission. Its expression is highly enriched in brain regions involved in learning and memory.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BEGAIN Knockout HEK293 Cell Line | EDJ-KQ12529 | Human | 57596 | Details Get a Quote |
| BEGAIN Knockout HCT 116 Cell Line | EDJ-KQ41517 | Human | 57596 | Details Get a Quote |
| BEGAIN Knockout HeLa Cell Line | EDJ-KQ41518 | Human | 57596 | Details Get a Quote |
| BEGAIN Knockout A-549 Cell Line | EDJ-KQ65390 | Human | 57596 | Details Get a Quote |
