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Aliases for SRGAP2 Gene

Aliases for SRGAP2 Gene

  • SLIT-ROBO Rho GTPase Activating Protein 2 2 3 5
  • Rho GTPase-Activating Protein 34 3 4
  • Formin-Binding Protein 2 3 4
  • ARHGAP34 3 4
  • SRGAP2A 3 4
  • FNBP2 3 4
  • SLIT-ROBO Rho GTPase-Activating Protein 2 3
  • Formin Binding Protein 2 2
  • SLIT-ROBO GAP2 3
  • KIAA0456 4
  • SRGAP3 3
  • SrGAP2 4

External Ids for SRGAP2 Gene

Previous HGNC Symbols for SRGAP2 Gene

  • FNBP2

Previous GeneCards Identifiers for SRGAP2 Gene

  • GC01P205217
  • GC03M008962
  • GC03M008997
  • GC01P202944
  • GC01P204583
  • GC01P206516
  • GC01P177269

Summaries for SRGAP2 Gene

Entrez Gene Summary for SRGAP2 Gene

  • 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 from segmental duplication. While this locus itself is conserved among various species, the paralogs are found only in the genus Homo, and not in the genomes of non-human great apes. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Jul 2014]

GeneCards Summary for SRGAP2 Gene

SRGAP2 (SLIT-ROBO Rho GTPase Activating Protein 2) is a Protein Coding gene. Diseases associated with SRGAP2 include Infantile Epileptic Encephalopathy and Familial Hypocalciuric Hypercalcemia. Among its related pathways are Signaling by Slit and p75 NTR receptor-mediated signalling. GO annotations related to this gene include protein homodimerization activity and Rac GTPase binding. An important paralog of this gene is SRGAP1.

UniProtKB/Swiss-Prot for SRGAP2 Gene

  • 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.

Additional gene information for SRGAP2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SRGAP2 Gene

Genomics for SRGAP2 Gene

Regulatory Elements for SRGAP2 Gene

Enhancers for SRGAP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H206429 1.3 Ensembl ENCODE dbSUPER 5.4 +226.9 226886 2 CTCF PKNOX1 FOXA2 TBL1XR1 BACH1 SIN3A BATF RAD21 RELA EED IKBKE C1orf147 SRGAP2 PIR54462
GH01H206418 0.7 dbSUPER 5.8 +217.2 217173 4 HDAC1 HNRNPUL1 HDGF TAL1 ZSCAN4 CTBP1 FOXK2 NCOR1 ZNF639 SOX6 EIF2D ELK4 C1orf147 RPL7AP20 SRGAP2 PIR54462 IKBKE
GH01H206202 0.9 ENCODE 0.7 +0.5 484 2 HDGF PKNOX1 ATF1 NFIB RB1 SIN3A ZBTB7B RFX5 GLIS2 ZNF366 FAM72A SRGAP2
GH01H206178 0.7 Ensembl 0.3 -24.6 -24603 0 HDAC1 SMARCE1 MTA2 SOX6 CEBPB DPF2 FOSL1 CTBP1 HDAC2 NCOR1 ENSG00000236889 SRGAP2
GH01H206182 0.6 Ensembl 0.3 -20.5 -20472 1 SMARCE1 LEF1 SMARCA4 IKZF1 TEAD2 DPF2 ATF7 ENSG00000236889 SRGAP2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SRGAP2 on UCSC Golden Path with GeneCards custom track

Promoters for SRGAP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000018900 555 4201 HDGF PKNOX1 ATF1 NFIB RB1 SIN3A ZBTB7B RFX5 GLIS2 ZNF366

Genomic Location for SRGAP2 Gene

Chromosome:
1
Start:
206,203,345 bp from pter
End:
206,464,443 bp from pter
Size:
261,099 bases
Orientation:
Plus strand

Genomic View for SRGAP2 Gene

Genes around SRGAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRGAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRGAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRGAP2 Gene

Proteins for SRGAP2 Gene

  • Protein details for SRGAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75044-SRGP2_HUMAN
    Recommended name:
    SLIT-ROBO Rho GTPase-activating protein 2
    Protein Accession:
    O75044

    Protein attributes for SRGAP2 Gene

    Size:
    1071 amino acids
    Molecular mass:
    120881 Da
    Quaternary structure:
    • Homodimer (Probable). Forms a heterooligomer with SRGAP1 and SRGAP3 through its F-BAR domain. Interacts (via SH3 domain) with GPHN (By similarity). Interacts with SRGAP2C; formation of the heterodimer alters SRGAP2 function. Interacts (via SH3 domain) with FMNL1 (activated by RAC1); regulates the actin filament severing activity of FMNL1 and actin dynamics. Interacts (via SH3 domain) with FMNL3. Interacts with RAC1; specifically stimulates RAC1 GTPase activity. Probably interacts with ROBO1 and ROBO2. Interacts with FASLG. Interacts with PRMT5.
    Miscellaneous:
    • There are 3 duplications of SRGAP2 in the human genome as a result of segmental gene duplications. SRGAP2C is the only one to be fixed at a diploid state in the human genome. Moreover, SRGAP2C is functional, interacts with and inhibits SRGAP2 and is human-specific. The appearance of SRGAP2C in the human genome is estimated to 2,4 million years ago, which corresponds to the beginning of neocortex expansion in human evolution and it may have played an important role in this process through its interaction with SRGAP2 function.
    SequenceCaution:
    • Sequence=BAA32301.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SRGAP2 Gene

neXtProt entry for SRGAP2 Gene

Post-translational modifications for SRGAP2 Gene

  • Methylation at Arg-927 is required for the stimulation of cell migration, dimerization and localization at the plasma membrane protrusions.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SRGAP2 Gene

Domains & Families for SRGAP2 Gene

Gene Families for SRGAP2 Gene

Graphical View of Domain Structure for InterPro Entry

O75044

UniProtKB/Swiss-Prot:

SRGP2_HUMAN :
  • The F-BAR domain mediates oligomerization, binds membranes, and induces plasma membrane protrusions.
Domain:
  • The F-BAR domain mediates oligomerization, binds membranes, and induces plasma membrane protrusions.
genes like me logo Genes that share domains with SRGAP2: view

Function for SRGAP2 Gene

Molecular function for SRGAP2 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for SRGAP2 Gene

Gene Ontology (GO) - Molecular Function for SRGAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity TAS --
GO:0005515 protein binding IPI 15324660
GO:0042803 protein homodimerization activity IDA,IEA 20810653
GO:0048365 Rac GTPase binding IDA,IEA 20810653
genes like me logo Genes that share ontologies with SRGAP2: view
genes like me logo Genes that share phenotypes with SRGAP2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SRGAP2 Gene

Localization for SRGAP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SRGAP2 Gene

Cell membrane. Cell projection, dendritic spine. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell junction, synapse, postsynaptic cell membrane. Cell projection, lamellipodium. Cytoplasmic vesicle, phagosome. Nucleus. Cytoplasm. Note=Recruited to actin-rich phagosomes during phagocytosis. Translocates from nucleus to cytoplasm during development. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SRGAP2 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SRGAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA,IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with SRGAP2: view

Pathways & Interactions for SRGAP2 Gene

genes like me logo Genes that share pathways with SRGAP2: view

Pathways by source for SRGAP2 Gene

Gene Ontology (GO) - Biological Process for SRGAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003363 lamellipodium assembly involved in ameboidal cell migration IMP 20810653
GO:0007165 signal transduction IEA --
GO:0008283 NOT cell proliferation IMP 20810653
GO:0021816 extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration ISS,IEA --
GO:0034446 substrate adhesion-dependent cell spreading IMP 20810653
genes like me logo Genes that share ontologies with SRGAP2: view

No data available for SIGNOR curated interactions for SRGAP2 Gene

Drugs & Compounds for SRGAP2 Gene

No Compound Related Data Available

Transcripts for SRGAP2 Gene

Unigene Clusters for SRGAP2 Gene

SLIT-ROBO Rho GTPase activating protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SRGAP2 Gene

No ASD Table

Relevant External Links for SRGAP2 Gene

GeneLoc Exon Structure for
SRGAP2
ECgene alternative splicing isoforms for
SRGAP2

Expression for SRGAP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SRGAP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SRGAP2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x7.0) and Brain - Cerebellum (x7.0).

Protein differential expression in normal tissues from HIPED for SRGAP2 Gene

This gene is overexpressed in Fetal Brain (31.2), Peripheral blood mononuclear cells (7.1), and Placenta (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SRGAP2 Gene



Protein tissue co-expression partners for SRGAP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SRGAP2 Gene:

SRGAP2

SOURCE GeneReport for Unigene cluster for SRGAP2 Gene:

Hs.497575

Evidence on tissue expression from TISSUES for SRGAP2 Gene

  • Nervous system(4.9)
  • Skin(2.3)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with SRGAP2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SRGAP2 Gene

Orthologs for SRGAP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SRGAP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SRGAP2 33
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia SRGAP2 33
  • 94.21 (n)
cow
(Bos Taurus)
Mammalia SRGAP2 33
  • 93.28 (n)
mouse
(Mus musculus)
Mammalia Srgap2 33 16
  • 91.78 (n)
rat
(Rattus norvegicus)
Mammalia Srgap2 33
  • 91.63 (n)
chicken
(Gallus gallus)
Aves SRGAP2 33
  • 81.57 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia srgap2 33
  • 72.63 (n)
Str.3514 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.32617 33
zebrafish
(Danio rerio)
Actinopterygii srgap2a 33
  • 73.87 (n)
Species where no ortholog for SRGAP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SRGAP2 Gene

ENSEMBL:
Gene Tree for SRGAP2 (if available)
TreeFam:
Gene Tree for SRGAP2 (if available)

Paralogs for SRGAP2 Gene

Variants for SRGAP2 Gene

Sequence variations from dbSNP and Humsavar for SRGAP2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000048591 -- 206,451,342(+) CATCC(C/T)CAGGC intron-variant
rs1000349256 -- 206,431,650(+) ATAAA(C/T)CTTAC intron-variant
rs1000509883 -- 206,447,018(+) TTTAG(A/G)CCACT intron-variant
rs1000582038 -- 206,445,300(+) GGTTG(G/T)AGGTG intron-variant
rs1000742423 -- 206,433,256(+) AATGG(A/G)GCAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SRGAP2 Gene

Variant ID Type Subtype PubMed ID
dgv256n106 CNV duplication 24896259
esv26345 CNV gain+loss 19812545
esv28559 CNV gain 19812545
nsv1075402 CNV duplication 25765185
nsv1075403 CNV duplication 25765185
nsv1075404 CNV duplication 25765185
nsv1076354 CNV duplication 25765185
nsv1077309 CNV duplication 25765185
nsv1077310 CNV duplication 25765185
nsv1115377 CNV duplication 24896259
nsv1124603 CNV duplication 24896259
nsv1128629 CNV duplication 24896259
nsv1132317 CNV duplication 24896259
nsv1132318 CNV duplication 24896259
nsv1132319 CNV duplication 24896259
nsv1148900 CNV duplication 26484159
nsv1149927 CNV duplication 26484159
nsv1150539 CNV duplication 26484159
nsv478296 CNV novel sequence insertion 20440878
nsv821120 CNV duplication 20802225
nsv826442 CNV gain 20364138
nsv946608 CNV duplication 23825009
nsv946609 CNV duplication 23825009
nsv946610 CNV duplication 23825009
nsv946611 CNV duplication 23825009
nsv946612 CNV duplication 23825009
nsv947047 CNV duplication 23825009
nsv947048 CNV duplication 23825009
nsv952646 CNV duplication 24416366
nsv952648 CNV duplication 24416366
nsv952649 CNV duplication 24416366

Relevant External Links for SRGAP2 Gene

Human Gene Mutation Database (HGMD)
SRGAP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SRGAP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for SRGAP2 Gene

Disorders for SRGAP2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SRGAP2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
infantile epileptic encephalopathy
  • west syndrome
familial hypocalciuric hypercalcemia
  • familial benign hypercalcemia
3p- syndrome
  • chromosome 3pter-p25 deletion syndrome
van der woude syndrome
  • myopathy, actin, congenital, with excess of thin myofilaments
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SRGP2_HUMAN
  • 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}.

Relevant External Links for SRGAP2

Genetic Association Database (GAD)
SRGAP2
Human Genome Epidemiology (HuGE) Navigator
SRGAP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SRGAP2
genes like me logo Genes that share disorders with SRGAP2: view

No data available for Genatlas for SRGAP2 Gene

Publications for SRGAP2 Gene

  1. Signal transduction in neuronal migration: roles of GTPase activating proteins and the small GTPase Cdc42 in the Slit-Robo pathway. (PMID: 11672528) Wong K … Rao Y (Cell 2001) 2 3 4 60
  2. The F-BAR domains from srGAP1, srGAP2 and srGAP3 regulate membrane deformation differently. (PMID: 22467852) Coutinho-Budd J … Polleux F (Journal of cell science 2012) 3 4 60
  3. Inhibition of SRGAP2 function by its human-specific paralogs induces neoteny during spine maturation. (PMID: 22559944) Charrier C … Polleux F (Cell 2012) 3 4 60
  4. Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). (PMID: 22106086) Saitsu H … Matsumoto N (American journal of medical genetics. Part A 2012) 3 4 60
  5. Bi-modal regulation of a formin by srGAP2. (PMID: 21148482) Mason FM … Soderling SH (The Journal of biological chemistry 2011) 3 4 60

Products for SRGAP2 Gene

Sources for SRGAP2 Gene

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