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    SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 [ Homo sapiens (human) ]

    Gene ID: 23380, updated on 28-Oct-2024

    Summary

    Official Symbol
    SRGAP2provided by HGNC
    Official Full Name
    SLIT-ROBO Rho GTPase activating protein 2provided by HGNC
    Primary source
    HGNC:HGNC:19751
    See related
    Ensembl:ENSG00000266028 MIM:606524; AllianceGenome:HGNC:19751
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FNBP2; SRGAP3; SRGAP2A; ARHGAP34
    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 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]
    Expression
    Ubiquitous expression in skin (RPKM 12.4), spleen (RPKM 10.1) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SRGAP2 in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (206203541..206464436)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (205467727..205728612)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (206516197..206637776)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372869 Neighboring gene AVPR1B divergent transcript Neighboring gene uncharacterized LOC105372873 Neighboring gene ribosomal protein L22 pseudogene 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:206137267-206137987 Neighboring gene family with sequence similarity 72 member A Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:206105690-206106456 Neighboring gene Sharpr-MPRA regulatory region 15698 duplicate 3 Neighboring gene Sharpr-MPRA regulatory region 356 duplicate 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:206553913-206554820 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:206628023-206628694 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:206640325-206641190 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:206641191-206642054 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:206642729-206643366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2401 Neighboring gene microRNA 6769b Neighboring gene IKBKE antisense RNA 1 Neighboring gene inhibitor of nuclear factor kappa B kinase subunit epsilon

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ33003, FLJ42565, KIAA0456

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTPase activator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables GTPase activator activity TAS
    Traceable Author Statement
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables small GTPase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin filament severing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in dendritic spine development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in excitatory synapse assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in filopodium assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in inhibitory synapse assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lamellipodium assembly involved in ameboidal cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of neuron migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neuron projection morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    involved_in regulation of synapse assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in substrate adhesion-dependent cell spreading IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in dendritic spine head IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in phagocytic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in postsynaptic density ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in postsynaptic membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    SLIT-ROBO Rho GTPase-activating protein 2
    Names
    SLIT-ROBO GAP2
    formin-binding protein 2
    rho GTPase-activating protein 34

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033804.1 RefSeqGene

      Range
      2869..263764
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001170637.4NP_001164108.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform c

      See identical proteins and their annotated locations for NP_001164108.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AB007925, AC244034, AC244035, AK294060, BC063527, BC144343, DA110905
      Consensus CDS
      CCDS76262.1
      UniProtKB/TrEMBL
      B7ZM87, Q5VZB5
      Related
      ENSP00000485517.1, ENST00000624873.3
      Conserved Domains (4) summary
      cd07682
      Location:26288
      F-BAR_srGAP2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Slit-Robo GTPase Activating Protein 2
      PHA03269
      Location:9621064
      PHA03269; envelope glycoprotein C; Provisional
      cd11955
      Location:731783
      SH3_srGAP1-3; Src homology 3 domain of Slit-Robo GTPase Activating Proteins 1, 2, and 3
      cd04383
      Location:486673
      RhoGAP_srGAP; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in srGAPs. srGAPs are components of the intracellular part of Slit-Robo signalling pathway that is important for axon guidance and cell migration. srGAPs contain an ...
    2. NM_001300952.2NP_001287881.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform d

      See identical proteins and their annotated locations for NP_001287881.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site and differs in the 3' exon structure, result in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (d) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AC244023, AC244035, AK057565, AK295845, BC041635, CA447513, DA110905
      Consensus CDS
      CCDS76261.1
      UniProtKB/TrEMBL
      A0A075B7B5, B7Z3G4
      Related
      ENSP00000473954.1, ENST00000605610.5
      Conserved Domains (3) summary
      cd11955
      Location:731783
      SH3_srGAP1-3; Src homology 3 domain of Slit-Robo GTPase Activating Proteins 1, 2, and 3
      cd04383
      Location:486673
      RhoGAP_srGAP; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in srGAPs. srGAPs are components of the intracellular part of Slit-Robo signalling pathway that is important for axon guidance and cell migration. srGAPs contain an ...
      cl12013
      Location:26288
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    3. NM_001377444.1NP_001364373.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC244023, AC244034, AC244035
      UniProtKB/TrEMBL
      A0A1S5UZH8, B7Z3G4
      Conserved Domains (3) summary
      cd11955
      Location:732784
      SH3_srGAP1-3; Src homology 3 domain of Slit-Robo GTPase Activating Proteins 1, 2, and 3
      cd04383
      Location:487674
      RhoGAP_srGAP; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in srGAPs. srGAPs are components of the intracellular part of Slit-Robo signalling pathway that is important for axon guidance and cell migration. srGAPs contain an ...
      cl12013
      Location:26289
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    4. NM_001377445.1NP_001364374.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC244023, AC244034, AC244035
      UniProtKB/TrEMBL
      B7Z3G4
      Conserved Domains (3) summary
      cd11955
      Location:732784
      SH3_srGAP1-3; Src homology 3 domain of Slit-Robo GTPase Activating Proteins 1, 2, and 3
      cd04383
      Location:487674
      RhoGAP_srGAP; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in srGAPs. srGAPs are components of the intracellular part of Slit-Robo signalling pathway that is important for axon guidance and cell migration. srGAPs contain an ...
      cl12013
      Location:26289
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    5. NM_001377446.1NP_001364375.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform g

      Status: REVIEWED

      Source sequence(s)
      AC244023, AC244034, AC244035
      UniProtKB/TrEMBL
      B7Z3G4
      Conserved Domains (3) summary
      cd11955
      Location:731783
      SH3_srGAP1-3; Src homology 3 domain of Slit-Robo GTPase Activating Proteins 1, 2, and 3
      cd04383
      Location:486673
      RhoGAP_srGAP; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in srGAPs. srGAPs are components of the intracellular part of Slit-Robo signalling pathway that is important for axon guidance and cell migration. srGAPs contain an ...
      cl12013
      Location:26288
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    6. NM_001377447.1NP_001364376.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform h

      Status: REVIEWED

      Source sequence(s)
      AC244023, AC244034, AC244035
      UniProtKB/TrEMBL
      B7Z3G4
      Conserved Domains (3) summary
      cd11955
      Location:732784
      SH3_srGAP1-3; Src homology 3 domain of Slit-Robo GTPase Activating Proteins 1, 2, and 3
      cd04383
      Location:487674
      RhoGAP_srGAP; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in srGAPs. srGAPs are components of the intracellular part of Slit-Robo signalling pathway that is important for axon guidance and cell migration. srGAPs contain an ...
      cl12013
      Location:26289
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    7. NM_015326.5NP_056141.2  SLIT-ROBO Rho GTPase-activating protein 2 isoform a

      See identical proteins and their annotated locations for NP_056141.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AB007925, AC244034, AC244035, AK294060, BC063527, DA110905
      Consensus CDS
      CCDS73017.1
      UniProtKB/Swiss-Prot
      A2RUF3, O75044
      UniProtKB/TrEMBL
      Q5VZB5
      Related
      ENSP00000459615.2, ENST00000573034.8
      Conserved Domains (4) summary
      cd07682
      Location:26289
      F-BAR_srGAP2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Slit-Robo GTPase Activating Protein 2
      PHA03269
      Location:9631065
      PHA03269; envelope glycoprotein C; Provisional
      cd11955
      Location:732784
      SH3_srGAP1-3; Src homology 3 domain of Slit-Robo GTPase Activating Proteins 1, 2, and 3
      cd04383
      Location:487674
      RhoGAP_srGAP; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in srGAPs. srGAPs are components of the intracellular part of Slit-Robo signalling pathway that is important for axon guidance and cell migration. srGAPs contain an ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      206203541..206464436
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509354.3XP_011507656.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X1

      UniProtKB/TrEMBL
      Q5VZB5
      Conserved Domains (4) summary
      cd07682
      Location:26289
      F-BAR_srGAP2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Slit-Robo GTPase Activating Protein 2
      cd11955
      Location:732784
      SH3_srGAP1-3; Src homology 3 domain of Slit-Robo GTPase Activating Proteins 1, 2, and 3
      cd04383
      Location:487674
      RhoGAP_srGAP; RhoGAP_srGAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in srGAPs. srGAPs are components of the intracellular part of Slit-Robo signalling pathway that is important for axon guidance and cell migration. srGAPs ...
      pfam03867
      Location:9531077
      FTZ; Fushi tarazu (FTZ), N-terminal region
    2. XM_011509355.3XP_011507657.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X2

      UniProtKB/TrEMBL
      Q5VZB5
      Conserved Domains (4) summary
      cd07682
      Location:26288
      F-BAR_srGAP2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Slit-Robo GTPase Activating Protein 2
      cd11955
      Location:731783
      SH3_srGAP1-3; Src homology 3 domain of Slit-Robo GTPase Activating Proteins 1, 2, and 3
      cd04383
      Location:486673
      RhoGAP_srGAP; RhoGAP_srGAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in srGAPs. srGAPs are components of the intracellular part of Slit-Robo signalling pathway that is important for axon guidance and cell migration. srGAPs ...
      pfam03867
      Location:9521076
      FTZ; Fushi tarazu (FTZ), N-terminal region
    3. XM_047416530.1XP_047272486.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X4

    4. XM_047416531.1XP_047272487.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X5

    5. XM_047416533.1XP_047272489.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X6

    6. XM_024446014.2XP_024301782.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X3

      UniProtKB/TrEMBL
      Q5VZB5
      Conserved Domains (4) summary
      cd11955
      Location:701753
      SH3_srGAP1-3; Src homology 3 domain of Slit-Robo GTPase Activating Proteins 1, 2, and 3
      cd04383
      Location:456643
      RhoGAP_srGAP; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in srGAPs. srGAPs are components of the intracellular part of Slit-Robo signalling pathway that is important for axon guidance and cell migration. srGAPs contain an ...
      cl12013
      Location:1258
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl28111
      Location:9451047
      Marek_A; Marek's disease glycoprotein A
    7. XM_024446015.2XP_024301783.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X3

      UniProtKB/TrEMBL
      Q5VZB5
      Conserved Domains (4) summary
      cd11955
      Location:701753
      SH3_srGAP1-3; Src homology 3 domain of Slit-Robo GTPase Activating Proteins 1, 2, and 3
      cd04383
      Location:456643
      RhoGAP_srGAP; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in srGAPs. srGAPs are components of the intracellular part of Slit-Robo signalling pathway that is important for axon guidance and cell migration. srGAPs contain an ...
      cl12013
      Location:1258
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl28111
      Location:9451047
      Marek_A; Marek's disease glycoprotein A
    8. XM_047416534.1XP_047272490.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X7

    9. XM_047416532.1XP_047272488.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X6

    10. XM_047416535.1XP_047272491.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X8

    11. XM_047416536.1XP_047272492.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X9

      Related
      ENSP00000397990.3, ENST00000419187.6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      205467727..205728612
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335616.1XP_054191591.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X1

    2. XM_054335617.1XP_054191592.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X2

    3. XM_054335620.1XP_054191595.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X4

    4. XM_054335621.1XP_054191596.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X5

    5. XM_054335623.1XP_054191598.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X6

    6. XM_054335618.1XP_054191593.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X3

    7. XM_054335619.1XP_054191594.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X3

    8. XM_054335625.1XP_054191600.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X7

    9. XM_054335622.1XP_054191597.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X6

    10. XM_054335626.1XP_054191601.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X8

    11. XM_054335627.1XP_054191602.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X9

    12. XM_054335624.1XP_054191599.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X6

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001042758.1: Suppressed sequence

      Description
      NM_001042758.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.