SRGAP2

SLIT-ROBO Rho GTPase activating protein 2, the group of AH/BAR family Rho GTPase activating proteins|Small nucleolar RNA protein coding host genes|F-BAR domain containing

Basic information

Region (hg38): 1:206203345-206464436

Previous symbols: [ "FNBP2" ]

Links

ENSG00000266028 ∙ NCBI:23380 ∙ OMIM:606524 ∙ HGNC:19751 ∙ Uniprot:O75044 ∙ 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 SRGAP2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SRGAP2 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			3			3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	3	0	0

Variants in SRGAP2

This is a list of pathogenic ClinVar variants found in the SRGAP2 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-206393546-G-A		Intellectual disability	Uncertain significance (-)
1-206401509-A-C			Uncertain significance (Jan 01, 2022)
1-206401604-C-T		SRGAP2-associated Neurodevelopmental Disorder	Uncertain significance (Jun 11, 2021)
1-206415972-A-T			Uncertain significance (May 01, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: RAC1 GTPase activating protein (GAP) that binds and deforms membranes, and regulates actin dynamics to regulate cell migration and differentiation. Plays an important role in different aspects of neuronal morphogenesis and migration mainly during development of the cerebral cortex. This includes the biogenesis of neurites, where it is required for both axons and dendrites outgrowth, and the maturation of the dendritic spines. Also stimulates the branching of the leading process and negatively regulates neuron radial migration in the cerebral cortex. Its interaction and inhibition by SRGAP2C reduces the rate of spine maturation, alters dendritic spine morphology and density and indirectly increases neuronal migration. It may have implications for cognition, learning and memory. In non-neuronal cells, it may also play a role in cell migration by regulating the formation of lamellipodia and filopodia. {ECO:0000269|PubMed:20810653, ECO:0000269|PubMed:21148482, ECO:0000269|PubMed:22559944}.
• Disease: DISEASE: Note=A chromosomal aberration disrupting SRGAP2 has been found in a patient with early infantile epileptic encephalopathy. Balanced translocation t(1;9)(q32;q13) (PubMed:22106086). {ECO:0000269|PubMed:22106086}.
• Pathway: Axon guidance - Homo sapiens (human);Developmental Biology;Signal Transduction;RHO GTPases Activate Formins;Rho GTPase cycle;Inactivation of CDC42 and RAC1;RHO GTPase Effectors;Signaling by Rho GTPases;Signaling by ROBO receptors;Axon guidance (Consensus)

Recessive Scores

• pRec: 0.156

Haploinsufficiency Scores

• pHI: 0.300

Essentials

• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Mouse Genome Informatics

• Gene name: Srgap2
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: lamellipodium assembly involved in ameboidal cell migration;signal transduction;cell population proliferation;extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration;negative regulation of cell migration;substrate adhesion-dependent cell spreading;positive regulation of GTPase activity;filopodium assembly;neuron projection morphogenesis;actin filament severing;regulation of small GTPase mediated signal transduction;negative regulation of cell death;dendritic spine development;negative regulation of neuron migration
• Cellular component: nucleus;cytoplasm;cytosol;plasma membrane;postsynaptic density;lamellipodium;cell junction;dendritic spine head;postsynaptic membrane;phagocytic vesicle
• Molecular function: GTPase activator activity;protein binding;identical protein binding;protein homodimerization activity;Rac GTPase binding