SRGAP2B Gene - SLIT-ROBO Rho GTPase Activating Protein 2B
A member of the SRGAP family involved in neuronal development and cell migration
Gene Information Card
| Symbol | SRGAP2B |
|---|---|
| Full Name | SLIT-ROBO Rho GTPase activating protein 2B |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 653464 ncbi.nlm.nih.gov/gene/653464 |
| Ensembl ID | ENSG00000214787 |
| UniProt ID | Q5T0T0 |
| OMIM ID | 614523 |
| HGNC ID | 33740 |
| Aliases | SRGAP2B, FLJ46365, MGC138383 |
Description
SRGAP2B (SLIT-ROBO Rho GTPase activating protein 2B) is a protein-coding gene located on chromosome 1q32.1. It belongs to the SRGAP family, which regulates neuronal migration, axon guidance, and dendritic spine morphogenesis through Rho GTPase signaling. SRGAP2B is a paralog of SRGAP2 and is thought to modulate cortical development in humans.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered neuronal connectivity; SRGAP2B copy number variation may affect synaptic pruning | PMID: 27182965 |
| Autism spectrum disorder | Disruption of Rho GTPase signaling affecting dendritic spine density | PMID: 25217958 |
| Intellectual disability | Loss of SRGAP2B expression impairs cortical neuron migration | PMID: 23075850 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 3.2 | Medium |
| Testis | 1.1 | Low |
| Lung | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 2.8 | Neuronal model |
| HEK293 (embryonic kidney) | 0.3 | Low expression |
| U87MG (glioblastoma) | 1.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42*) | Nonsense | <0.01% | Loss of function |
| c.456_459del (p.Lys152fs) | Frameshift | <0.01% | Loss of function |
| c.789G>A (p.Trp263*) | Nonsense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to premature stop codons, resulting in truncated or absent SRGAP2B protein.
Gain of Function (GOF)
No gain-of-function mutations reported in SRGAP2B.
Dominant Negative (DN)
No dominant-negative mutations described for SRGAP2B.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity (GO:0005096) | • Rho GTPase binding (GO:0035024) |
| • actin cytoskeleton organization (GO:0030036) | • neuron migration (GO:0001764) |
| • dendrite morphogenesis (GO:0048812) |
Pathways
• SLIT-ROBO signaling pathway
• Rho GTPase cycle
Protein Summary
SRGAP2B encodes a 1,071-amino acid protein containing an F-BAR domain, a RhoGAP domain, and a SH3 domain. It functions as a GTPase-activating protein (GAP) for Rho family GTPases, particularly Rac1 and Cdc42, regulating actin dynamics and cell migration. SRGAP2B is predominantly expressed in the brain and is involved in neuronal differentiation and cortical development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SRGAP2B Knockout HEK293 Cell Line | EDJ-KQ15509 | Human | 647135 | Details Get a Quote |
| SRGAP2B Knockout A-549 Cell Line | EDJ-KQ46316 | Human | 647135 | Details Get a Quote |
| SRGAP2B Knockout HCT 116 Cell Line | EDJ-KQ46317 | Human | 647135 | Details Get a Quote |
| SRGAP2B Knockout HeLa Cell Line | EDJ-KQ46318 | Human | 647135 | Details Get a Quote |
