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Aliases for SRGAP3 Gene

Aliases for SRGAP3 Gene

  • SLIT-ROBO Rho GTPase Activating Protein 3 2 3 5
  • SLIT-ROBO Rho GTPase Activating Protein 2 2 3
  • Rho GTPase-Activating Protein 14 3 4
  • Mental Disorder-Associated GAP 3 4
  • ARHGAP14 3 4
  • SrGAP2 3 4
  • MEGAP 3 4
  • WRP 3 4
  • WAVE-Associated Rac GTPase Activating Protein 3
  • WAVE-Associated Rac GTPase-Activating Protein 4
  • SLIT-ROBO Rho GTPase-Activating Protein 3 3
  • KIAA0411 4
  • KIAA1156 4
  • SRGAP3 4

External Ids for SRGAP3 Gene

Previous HGNC Symbols for SRGAP3 Gene

  • SRGAP2

Summaries for SRGAP3 Gene

GeneCards Summary for SRGAP3 Gene

SRGAP3 (SLIT-ROBO Rho GTPase Activating Protein 3) is a Protein Coding gene. Diseases associated with SRGAP3 include Pilocytic Astrocytoma and 3P- Syndrome. Among its related pathways are Signaling by Robo receptor and Developmental Biology. GO annotations related to this gene include GTPase activator activity and Rac GTPase binding. An important paralog of this gene is SRGAP1.

UniProtKB/Swiss-Prot for SRGAP3 Gene

  • GTPase-activating protein for RAC1 and perhaps Cdc42, but not for RhoA small GTPase. May attenuate RAC1 signaling in neurons.

Gene Wiki entry for SRGAP3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SRGAP3 Gene

Genomics for SRGAP3 Gene

Regulatory Elements for SRGAP3 Gene

Enhancers for SRGAP3 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
GH03G009409 1.6 FANTOM5 Ensembl ENCODE dbSUPER 19.3 -47.3 -47333 1.7 HDAC1 ATF1 ARNT PAF1 ZNF362 CEBPB ZEB2 ZNF592 RAD51 SMARCA4 SRGAP3 SETD5 THUMPD3-AS1 MTMR14 GC03P009403 GC03M009409
GH03G009362 1.2 ENCODE 25.4 -0.2 -150 2.2 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC RAD18 THUMPD3-AS1 SRGAP3 FANCD2 LINC00852 THUMPD3 GHRLOS SETD5 PRRT3-AS1 ENSG00000254485
GH03G009420 1.6 Ensembl ENCODE dbSUPER 19 -60.1 -60102 5.8 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 SRGAP3 EMC3-AS1 ENSG00000269982 TATDN2 ENSG00000269886 THUMPD3-AS1 GC03M009409 GC03P009403
GH03G009394 1.4 ENCODE dbSUPER 21 -35.9 -35939 9.8 MLX CREB3L1 AGO1 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3 SRGAP3 THUMPD3-AS1 RAD18 FANCD2 LINC00852 GC03P009403
GH03G009339 1 Ensembl ENCODE 23.1 +22.5 22513 1.8 PKNOX1 JUN ZNF384 CHD7 ZIC2 FOSL1 GATA3 GATA2 FOSL2 NFE2 SRGAP3 THUMPD3 ENSG00000254485 RAD18 MTMR14 ENSG00000199815 ARPC4-TTLL3 ARPC4 TADA3 THUMPD3-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SRGAP3 on UCSC Golden Path with GeneCards custom track

Promoters for SRGAP3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000148272 -71 1601 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC

Genomic Location for SRGAP3 Gene

Chromosome:
3
Start:
8,980,591 bp from pter
End:
9,363,053 bp from pter
Size:
382,463 bases
Orientation:
Minus strand

Genomic View for SRGAP3 Gene

Genes around SRGAP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRGAP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRGAP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRGAP3 Gene

Proteins for SRGAP3 Gene

  • Protein details for SRGAP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43295-SRGP3_HUMAN
    Recommended name:
    SLIT-ROBO Rho GTPase-activating protein 3
    Protein Accession:
    O43295
    Secondary Accessions:
    • Q8IX13
    • Q8IZV8

    Protein attributes for SRGAP3 Gene

    Size:
    1099 amino acids
    Molecular mass:
    124504 Da
    Quaternary structure:
    • Homodimer (Probable). Forms a heterooligomer with SRGAP1 and SRGAP2 through its F-BAR domain. Interacts with WASF1. Probably interacts with ROBO1. Interacts with FASLG.

    Alternative splice isoforms for SRGAP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SRGAP3 Gene

Post-translational modifications for SRGAP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SRGAP3 Gene

Domains & Families for SRGAP3 Gene

Suggested Antigen Peptide Sequences for SRGAP3 Gene

Graphical View of Domain Structure for InterPro Entry

O43295

UniProtKB/Swiss-Prot:

SRGP3_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 SRGAP3: view

Function for SRGAP3 Gene

Molecular function for SRGAP3 Gene

UniProtKB/Swiss-Prot Function:
GTPase-activating protein for RAC1 and perhaps Cdc42, but not for RhoA small GTPase. May attenuate RAC1 signaling in neurons.

Gene Ontology (GO) - Molecular Function for SRGAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity TAS --
GO:0005515 protein binding IPI 17500595
GO:0048365 Rac GTPase binding IBA --
genes like me logo Genes that share ontologies with SRGAP3: view
genes like me logo Genes that share phenotypes with SRGAP3: view

Animal Models for SRGAP3 Gene

MGI Knock Outs for SRGAP3:

Animal Model Products

  • Taconic Biosciences Mouse Models for SRGAP3

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SRGAP3 Gene

Localization for SRGAP3 Gene

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 SRGAP3 gene
Compartment Confidence
cytosol 5
nucleus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SRGAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SRGAP3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SRGAP3 Gene

Pathways & Interactions for SRGAP3 Gene

genes like me logo Genes that share pathways with SRGAP3: view

Pathways by source for SRGAP3 Gene

1 KEGG pathway for SRGAP3 Gene
1 GeneGo (Thomson Reuters) pathway for SRGAP3 Gene
2 Qiagen pathways for SRGAP3 Gene

SIGNOR curated interactions for SRGAP3 Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for SRGAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0030336 negative regulation of cell migration IBA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0051056 regulation of small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with SRGAP3: view

Drugs & Compounds for SRGAP3 Gene

No Compound Related Data Available

Transcripts for SRGAP3 Gene

Unigene Clusters for SRGAP3 Gene

SLIT-ROBO Rho GTPase activating protein 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SRGAP3 Gene

No ASD Table

Relevant External Links for SRGAP3 Gene

GeneLoc Exon Structure for
SRGAP3
ECgene alternative splicing isoforms for
SRGAP3

Expression for SRGAP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SRGAP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SRGAP3 Gene

This gene is overexpressed in Brain - Cerebellum (x6.4) and Brain - Cerebellar Hemisphere (x6.1).

Protein differential expression in normal tissues from HIPED for SRGAP3 Gene

This gene is overexpressed in Brain (20.6), Fetal Brain (17.7), Frontal cortex (10.4), and Liver, secretome (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SRGAP3 Gene



NURSA nuclear receptor signaling pathways regulating expression of SRGAP3 Gene:

SRGAP3

SOURCE GeneReport for Unigene cluster for SRGAP3 Gene:

Hs.654743

mRNA Expression by UniProt/SwissProt for SRGAP3 Gene:

O43295-SRGP3_HUMAN
Tissue specificity: Highly expressed in adult and fetal brain. Expressed at low levels in kidney. Isoform 3 is expressed in the kidney but is absent in the brain.

Evidence on tissue expression from TISSUES for SRGAP3 Gene

  • Nervous system(4.9)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with SRGAP3: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SRGAP3 Gene

Orthologs for SRGAP3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SRGAP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SRGAP3 34 35
  • 99.51 (n)
oppossum
(Monodelphis domestica)
Mammalia SRGAP3 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SRGAP3 34 35
  • 93.99 (n)
cow
(Bos Taurus)
Mammalia SRGAP3 34 35
  • 93.54 (n)
mouse
(Mus musculus)
Mammalia Srgap3 34 16 35
  • 92.36 (n)
rat
(Rattus norvegicus)
Mammalia Srgap3 34
  • 92.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SRGAP3 35
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves SRGAP3 34 35
  • 85.62 (n)
lizard
(Anolis carolinensis)
Reptilia SRGAP3 35
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia srgap3 34
  • 78.87 (n)
zebrafish
(Danio rerio)
Actinopterygii srgap3 34 35
  • 77.93 (n)
worm
(Caenorhabditis elegans)
Secernentea F12F6.5 36
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 48 (a)
OneToMany
Species where no ortholog for SRGAP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for SRGAP3 Gene

ENSEMBL:
Gene Tree for SRGAP3 (if available)
TreeFam:
Gene Tree for SRGAP3 (if available)

Paralogs for SRGAP3 Gene

(8) SIMAP similar genes for SRGAP3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SRGAP3: view

Variants for SRGAP3 Gene

Sequence variations from dbSNP and Humsavar for SRGAP3 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_035550 A breast cancer sample
rs1000007243 -- 9,203,769(+) ATAAA(C/G)CTAGG intron-variant
rs1000010347 -- 9,029,096(+) ACATG(C/T)TGACT intron-variant
rs1000019080 -- 9,108,349(+) TGCAG(A/T)GGCTC intron-variant
rs1000022374 -- 9,315,698(+) TCATA(C/T)GTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SRGAP3 Gene

Variant ID Type Subtype PubMed ID
dgv276n21 CNV loss 19592680
esv2122831 CNV deletion 18987734
esv25936 CNV loss 19812545
esv3561447 CNV deletion 23714750
esv3568606 CNV loss 25503493
esv3595233 CNV loss 21293372
esv3595234 CNV loss 21293372
nsv1072238 CNV deletion 25765185
nsv1125769 CNV tandem duplication 24896259
nsv1139085 CNV deletion 24896259
nsv3689 CNV deletion 18451855
nsv3690 CNV insertion 18451855
nsv472849 CNV novel sequence insertion 20440878
nsv518352 CNV loss 19592680
nsv521065 CNV loss 19592680
nsv955313 CNV deletion 24416366

Variation tolerance for SRGAP3 Gene

Residual Variation Intolerance Score: 3.08% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.62; 45.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SRGAP3 Gene

Human Gene Mutation Database (HGMD)
SRGAP3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SRGAP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SRGAP3 Gene

Disorders for SRGAP3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SRGAP3 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pilocytic astrocytoma
  • grade i astrocytic tumor
3p- syndrome
  • chromosome 3pter-p25 deletion syndrome
obstructive hydrocephalus
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SRGP3_HUMAN
  • Note=A chromosomal aberration involving SRGAP3 is found in a patient with severe idiopathic mental retardation (PubMed:12195014). Translocation t(X;3)(p11.2;p25) (PubMed:12195014). {ECO:0000269 PubMed:12195014}.

Relevant External Links for SRGAP3

Genetic Association Database (GAD)
SRGAP3
Human Genome Epidemiology (HuGE) Navigator
SRGAP3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SRGAP3
genes like me logo Genes that share disorders with SRGAP3: view

No data available for Genatlas for SRGAP3 Gene

Publications for SRGAP3 Gene

  1. The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation. (PMID: 12195014) Endris V. … Rappold G.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 4 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. 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 64
  4. Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. (PMID: 20035503) Elstner M. … Turnbull D.M. (Ann. Neurol. 2009) 3 46 64
  5. MEGAP impedes cell migration via regulating actin and microtubule dynamics and focal complex formation. (PMID: 16730001) Yang Y. … Rappold G. (Exp. Cell Res. 2006) 3 22 64

Products for SRGAP3 Gene

Sources for SRGAP3 Gene

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