SRGAP2C Gene - SLIT-ROBO Rho GTPase Activating Protein 2C
A human-specific gene involved in cortical development and neuronal migration.
Gene Information Card
| Symbol | SRGAP2C |
|---|---|
| Full Name | SLIT-ROBO Rho GTPase activating protein 2C |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 653464 ncbi.nlm.nih.gov/gene/653464 |
| Ensembl ID | ENSG00000271903 |
| UniProt ID | Q7Z6J8 |
| OMIM ID | 615929 |
| HGNC ID | 37243 |
| Aliases | SRGAP2B, FLJ44881 |
Description
SRGAP2C (SLIT-ROBO Rho GTPase activating protein 2C) is a human-specific gene that arose through partial duplication of the ancestral SRGAP2 gene. It encodes a protein that negatively regulates SRGAP2A function by forming heterodimers, thereby modulating neuronal migration and dendritic spine maturation. SRGAP2C is predominantly expressed in the developing brain and is implicated in cortical expansion and human cognitive evolution.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Altered neuronal migration due to SRGAP2C copy number variation | PMID: 22902789 |
| Autism spectrum disorder | Disruption of SRGAP2C dosage affecting synaptic development | PMID: 27378692 |
| Schizophrenia | Potential role in cortical connectivity abnormalities | PMID: 27378692 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | High |
| Testis | 3.2 | Low |
| Heart | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal model |
| HEK293 (embryonic kidney) | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | SNV | <0.01% | Start codon loss, likely loss of function |
| c.235C>T | Missense | <0.01% | p.Arg79Cys, uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Start codon loss (c.1A>G) predicted to abolish protein translation.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
Not described for SRGAP2C.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity (GO:0005096) | • Regulation of neuronal migration (GO:2001222) |
| • Dendritic spine development (GO:0060997) |
Pathways
• SLIT-ROBO signaling (Reactome: R-HSA-9013405)
• Rho GTPase cycle (Reactome: R-HSA-194840)
Protein Summary
The SRGAP2C protein is a 1,071-amino acid cytoplasmic protein containing an F-BAR domain and a RhoGAP domain. It lacks the N-terminal region present in SRGAP2A, allowing it to dimerize with and inhibit SRGAP2A. This inhibition promotes dendritic spine density and cortical neuron migration, contributing to human-specific brain features.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SRGAP2C Knockout HEK293 Cell Line | EDJ-KQ15510 | Human | 653464 | Details Get a Quote |
| SRGAP2C Knockout A-549 Cell Line | EDJ-KQ46319 | Human | 653464 | Details Get a Quote |
| SRGAP2C Knockout HCT 116 Cell Line | EDJ-KQ46320 | Human | 653464 | Details Get a Quote |
| SRGAP2C Knockout HeLa Cell Line | EDJ-KQ46321 | Human | 653464 | Details Get a Quote |
