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

Gene ID: 23380, updated on 27-Mar-2021

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
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
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Genomic context

See SRGAP2 in Genome Data Viewer
Location:
1q32.1
Exon count:
29
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (206203541..206464436)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (206516198..206637776)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372869 Neighboring gene uncharacterized LOC105372873 Neighboring gene ribosomal protein L22 pseudogene 4 Neighboring gene family with sequence similarity 72 member A Neighboring gene microRNA 6769b Neighboring gene inhibitor of nuclear factor kappa B kinase subunit epsilon Neighboring gene Ras association domain family member 5 Neighboring gene ribosomal protein L7a pseudogene 20

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Associated conditions

Description Tests
A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33003, FLJ42565, KIAA0456

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
GTPase activator activity TAS
Traceable Author Statement
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
small GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
actin filament severing IDA
Inferred from Direct Assay
more info
PubMed 
dendritic spine development IDA
Inferred from Direct Assay
more info
PubMed 
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
 
filopodium assembly IDA
Inferred from Direct Assay
more info
PubMed 
lamellipodium assembly involved in ameboidal cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT negative regulation of cell death IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of neuron migration IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
substrate adhesion-dependent cell spreading IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
dendritic spine head IDA
Inferred from Direct Assay
more info
PubMed 
lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
phagocytic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
 
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)

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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/Swiss-Prot
    O75044
    UniProtKB/TrEMBL
    B4DFE5, B7ZM87
    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
    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
    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
    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
    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
    O75044
    UniProtKB/TrEMBL
    B4DFE5
    Related
    ENSP00000459615.2, ENST00000573034.7
    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: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011509356.3XP_011507658.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X6

    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_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 ...
    cl12013
    Location:26289
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  2. XM_011509354.2XP_011507656.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X1

    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
  3. XM_011509355.2XP_011507657.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X2

    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
  4. XM_017000838.2XP_016856327.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X8

    Conserved Domains (4) summary
    cd11955
    Location:579631
    SH3_srGAP1-3; Src homology 3 domain of Slit-Robo GTPase Activating Proteins 1, 2, and 3
    cd04383
    Location:334521
    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:800924
    FTZ; Fushi tarazu (FTZ), N-terminal region
    cl12013
    Location:1136
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  5. XM_017000840.1XP_016856329.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X8

    Conserved Domains (4) summary
    cd11955
    Location:579631
    SH3_srGAP1-3; Src homology 3 domain of Slit-Robo GTPase Activating Proteins 1, 2, and 3
    cd04383
    Location:334521
    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:800924
    FTZ; Fushi tarazu (FTZ), N-terminal region
    cl12013
    Location:1136
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  6. XM_024446014.1XP_024301782.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X5

    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_024446015.1XP_024301783.1  SLIT-ROBO Rho GTPase-activating protein 2 isoform X5

    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

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.
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