SRGAP2C
protein-codingSLIT-ROBO Rho GTPase activating protein 2C, the group of F-BAR domain containing
Gene summary
This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2B locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2, and acts antagonistically to these proteins in cortical neuron development. [provided by RefSeq, Dec 2012]
- SRGAP2P1
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~208.1 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to SRGAP2C variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001329984.2. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 2 | ||||
| missense | 1 | 1 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 3 | 0 | 3 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001316913.1 | 9 | MANE Select | |
| Ensembl | ENSP00000478290.1 | 9 | MANE Select | |
| RefSeq | NP_001258801.1 | 9 | Standard | |
| Ensembl | ENSP00000483477.1 | 6 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration
- negative regulation of cell migration
- negative regulation of filopodium assembly
- negative regulation of dendritic spine development
- positive regulation of neuron migration
Molecular Function
- protein homodimerization activity
- protein heterodimerization activity
- Rac GTPase binding
Cellular Component
- cytoplasm
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Involved in dendritic spine maturation through interaction with and inhibition of SRGAP2. Reduces the rate of spine maturation and indirectly increases neuronal migration. Changes dendritic spine morphology and density and may have implications for cognition, learning and memory. {ECO:0000269|PubMed:22559944}.;