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Aliases for SRGAP2 Gene

Aliases for SRGAP2 Gene

  • SLIT-ROBO Rho GTPase Activating Protein 2 2 3
  • Rho GTPase-Activating Protein 34 3 4
  • Formin-Binding Protein 2 3 4
  • ARHGAP34 3 4
  • KIAA0456 4 6
  • SRGAP2A 3 4
  • FNBP2 3 4
  • SLIT-ROBO Rho GTPase-Activating Protein 2 3
  • Formin Binding Protein 2 2
  • SLIT-ROBO GAP2 3
  • SRGAP2 4
  • SrGAP3 3

External Ids for SRGAP2 Gene

Previous Symbols for SRGAP2 Gene

  • FNBP2

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 atrioventricular septal defect and infantile epileptic encephalopathy. Among its related pathways are Signaling by GPCR and L1CAM interactions. GO annotations related to this gene include protein homodimerization activity.

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.

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

Genomics for SRGAP2 Gene

Genomic Location for SRGAP2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SRGAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRGAP2 Gene

Regulatory Elements 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
    Secondary Accessions:

    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

Proteomics data for SRGAP2 Gene at MOPED

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
  • Ubiquitination at Lys33

No data available for DME Specific Peptides for SRGAP2 Gene

Domains for SRGAP2 Gene

Gene Families for SRGAP2 Gene

HGNC:
  • ARHGAP :Rho GTPase activating proteins

UniProtKB/Swiss-Prot:

SRGP2_HUMAN
Domain:
  • The F-BAR domain mediates oligomerization, binds membranes, and induces plasma membrane protrusions.:
    • O75044
  • Contains 1 F-BAR domain.:
    • O75044
  • Contains 1 Rho-GAP domain.:
    • O75044
  • Contains 1 SH3 domain.:
    • O75044
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.

Gene Ontology (GO) - Molecular Function for SRGAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IMP 20810653
GO:0005515 protein binding IPI 16318909
GO:0042803 protein homodimerization activity IDA 20810653
GO:0048365 Rac GTPase binding IDA 20810653
genes like me logo Genes that share ontologies with SRGAP2: view

Phenotypes for SRGAP2 Gene

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

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for SRGAP2 Gene COMPARTMENTS Subcellular localization image for SRGAP2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
cytosol 4
nucleus 2

Gene Ontology (GO) - Cellular Components for SRGAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA 21148482
genes like me logo Genes that share ontologies with SRGAP2: view

Pathways for SRGAP2 Gene

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

Pathways by source for SRGAP2 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for SRGAP2 Gene
2 Qiagen pathways for SRGAP2 Gene
1 KEGG pathway for SRGAP2 Gene

Interacting Proteins 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 --
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0007411 axon guidance TAS --
GO:0008283 NOT cell proliferation IMP 20810653
genes like me logo Genes that share ontologies with SRGAP2: view

Transcripts for SRGAP2 Gene

Unigene Clusters for SRGAP2 Gene

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

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 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 (7.0) and Brain - Cerebellum (7.0).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for SRGAP2 Gene

SOURCE GeneReport for Unigene cluster for SRGAP2 Gene Hs.497575

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

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 36
  • 99.75 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia SRGAP2 36
  • 93.28 (n)
  • 98.69 (a)
dog
(Canis familiaris)
Mammalia SRGAP2 36
  • 94.21 (n)
  • 98.88 (a)
mouse
(Mus musculus)
Mammalia Srgap2 36
  • 91.78 (n)
  • 98.23 (a)
Srgap2 16
rat
(Rattus norvegicus)
Mammalia Srgap2 36
  • 91.63 (n)
  • 98.33 (a)
chicken
(Gallus gallus)
Aves SRGAP2 36
  • 81.57 (n)
  • 94.21 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32617 36
tropical clawed frog
(Silurana tropicalis)
Amphibia srgap2 36
  • 72.63 (n)
  • 78.79 (a)
Str.3514 36
zebrafish
(Danio rerio)
Actinopterygii srgap2a 36
  • 73.87 (n)
  • 78.01 (a)
Species with no ortholog for SRGAP2:
  • 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

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

No data available for 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 MAF
rs9242 -- 206,464,055(+) GAAAA(C/T)AGAGG utr-variant-3-prime
rs502336 -- 206,217,751(+) GAACC(C/T)AAGCT intron-variant
rs510658 -- 206,211,602(+) TAAAA(A/G/T)CATTT intron-variant
rs523647 -- 206,363,978(-) AGTAG(A/G)ATTGT intron-variant
rs524539 -- 206,363,883(-) TTACA(C/G)TGTAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv821120 CNV Duplication 20802225
esv28559 CNV Gain 19812545
nsv826442 CNV Gain 20364138
dgv521n71 CNV Loss 21882294

Relevant External Links for SRGAP2 Gene

HapMap Linkage Disequilibrium report
SRGAP2
Human Gene Mutation Database (HGMD)
SRGAP2

Disorders for SRGAP2 Gene

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).

(1) University of Copenhagen DISEASES for SRGAP2 Gene

(3) Novoseek inferred disease relationships for SRGAP2 Gene

Disease -log(P) Hits PubMed IDs
chondrosarcoma 69.8 1
retinoblastoma 48.5 1
breast cancer 12.3 1

Relevant External Links for SRGAP2

Genetic Association Database (GAD)
SRGAP2
Human Genome Epidemiology (HuGE) Navigator
SRGAP2
genes like me logo Genes that share disorders with SRGAP2: view

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
  2. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PMID: 19807924) Voss M. … Janssen O. (BMC Immunol. 2009) 3 4
  3. Changes in mRNA of Slit-Robo GTPase-activating protein 2 following facial nerve transection. (PMID: 15046868) Madura T. … Tohyama M. (Brain Res. Mol. Brain Res. 2004) 2 3
  4. FNBP2 gene on human chromosome 1q32.1 encodes ARHGAP family protein with FCH, FBH, RhoGAP and SH3 domains. (PMID: 12736724) Katoh M. … Katoh M. (Int. J. Mol. Med. 2003) 3 23
  5. Inhibition of SRGAP2 function by its human-specific paralogs induces neoteny during spine maturation. (PMID: 22559944) Charrier C. … Polleux F. (Cell 2012) 3 4

Products for SRGAP2 Gene

Sources for SRGAP2 Gene

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