Gene Gene information from NCBI Gene database.
Entrez ID 23380
Gene name SLIT-ROBO Rho GTPase activating protein 2
Gene symbol SRGAP2
Synonyms (NCBI Gene)
ARHGAP34FNBP2SRGAP2ASRGAP3
Chromosome 1
Chromosome location 1q32.1
Summary This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. The encoded protein stimulates GTPase activity of Rac1, and plays a role in cortical neuron development. This locus has several paralogs on human chromosome 1 resulting fro
miRNA miRNA information provided by mirtarbase database.
382
miRTarBase ID miRNA Experiments Reference
MIRT024967 hsa-miR-214-3p Reporter assay 21276775
MIRT025878 hsa-miR-7-5p Sequencing 20371350
MIRT027717 hsa-miR-98-5p Microarray 19088304
MIRT045795 hsa-miR-191-5p CLASH 23622248
MIRT045756 hsa-miR-125a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
62
GO ID Ontology Definition Evidence Reference
GO:0003363 Process Lamellipodium assembly involved in ameboidal cell migration IMP 20810653
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IDA 21148482, 27373832
GO:0005096 Function GTPase activator activity IEA
GO:0005096 Function GTPase activator activity IMP 20810653
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606524 19751 ENSG00000266028
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75044
Protein name SLIT-ROBO Rho GTPase-activating protein 2 (srGAP2) (Formin-binding protein 2) (Rho GTPase-activating protein 34)
Protein function Postsynaptic RAC1 GTPase activating protein (GAP) that plays a key role in neuronal morphogenesis and migration mainly during development of the cerebral cortex (PubMed:20810653, PubMed:27373832, PubMed:28333212). Regulates excitatory and inhibi
PDB 2DL8 , 4RTT , 4RUG , 5I6J , 5I6R , 5I7D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00611 FCH 31 115 Fes/CIP4, and EFC/F-BAR homology domain Family
PF00620 RhoGAP 505 657 RhoGAP domain Domain
PF00018 SH3_1 734 779 SH3 domain Domain
Sequence
MTSPAKFKKDKEIIAEYDTQVKEIRAQLTEQMKCLDQQCELRVQLLQDLQDFFRKKAEIE
MDYSRNLEKLAERFLAKTRSTKDQQFKKDQNVLSPVNCWNLLLNQVKRESRDHTT
LSDIY
LNNIIPRFVQVSEDSGRLFKKSKEVGQQLQDDLMKVLNELYSVMKTYHMYNADSISAQSK
LKEAEKQEEKQIGKSVKQEDRQTPRSPDSTANVRIEEKHVRRSSVKKIEKMKEKRQAKYT
ENKLKAIKARNEYLLALEATNASVFKYYIHDLSDLIDQCCDLGYHASLNRALRTFLSAEL
NLEQSKHEGLDAIENAVENLDATSDKQRLMEMYNNVFCPPMKFEFQPHMGDMASQLCAQQ
PVQSELVQRCQQLQSRLSTLKIENEEVKKTMEATLQTIQDIVTVEDFDVSDCFQYSNSME
SVKSTVSETFMSKPSIAKRRANQQETEQFYFTKMKEYLEGRNLITKLQAKHDLLQKTLGE
SQRTDCSLARRSSTVRKQDSSQAIPLVVESCIRFISRHGLQHEGIFRVSGSQVEVNDIKN
AFERGEDPLAGDQNDHDMDSIAGVLKLYFRGLEHPLFPKDIFHDLMACVTMDNLQERALH
IRKVLLVLPKTTLIIMRYLFAFLNHLSQFSEENMMDPYNLAICFGPSLMSVPEGHDQ
VSC
QAHVNELIKTIIIQHENIFPSPRELEGPVYSRGGSMEDYCDSPHGETTSVEDSTQDVTAE
HHTSDDECEPIEAIAKFDYVGRTARELSFKKGASLLLYQRASDDWWEGRHNGIDGLIPHQ
YIVVQDTEDGVVERSSPKSEIEVISEPPEEKVTARAGASCPSGGHVADIYLANINKQRKR
PESGSIRKTFRSDSHGLSSSLTDSSSPGVGASCRPSSQPIMSQSLPKEGPDKCSISGHGS
LNSISRHSSLKNRLDSPQIRKTATAGRSKSFNNHRPMDPEVIAQDIEATMNSALNELREL
ERQSSVKHTPDVVLDTLEPLKTSPVVAPTSEPSSPLHTQLLKDPEPAFQRSASTAGDIAC
AFRPVKSVKMAAPVKPPATRPKPTVFPKTNATSPGVNSSTSPQSTDKSCTV
Sequence length 1071
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Axon guidance   Rho GTPase cycle
RHO GTPases Activate Formins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Uncertain significance rs2987927 RCV000578222
SRGAP2-associated Neurodevelopmental Disorder Uncertain significance rs782657746 RCV002266864
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 21738711
Diabetic Nephropathies Inhibit 37952894
Dyslipidemias Associate 28912560
Pancreatic Neoplasms Associate 36277474