SRGAP2C

SLIT-ROBO Rho GTPase activating protein 2C, the group of F-BAR domain containing

Basic information

Region (hg38): 1:121184810-121392874

Previous symbols: [ "SRGAP2P1" ]

Links

ENSG00000171943

∙ NCBI:653464 ∙ OMIM:614704 ∙ HGNC:30584 ∙ Uniprot:P0DJJ0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SRGAP2C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SRGAP2C gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense				1 clinvar		1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	1	0

Variants in SRGAP2C

This is a list of pathogenic ClinVar variants found in the SRGAP2C region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-121374113-C-T			Likely benign (Mar 01, 2023)	2639057

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

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}.;

Gene ontology

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
Cellular component: cytoplasm
Molecular function: protein homodimerization activity;protein heterodimerization activity;Rac GTPase binding