Human Gene SRGAP2 (ENST00000573034.8) from GENCODE V44
  Description: Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 1, mRNA. (from RefSeq NM_015326)
RefSeq Summary (NM_015326): 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].
Gencode Transcript: ENST00000573034.8
Gencode Gene: ENSG00000266028.8
Transcript (Including UTRs)
   Position: hg38 chr1:206,203,541-206,464,436 Size: 260,896 Total Exon Count: 23 Strand: +
Coding Region
   Position: hg38 chr1:206,205,971-206,461,420 Size: 255,450 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:206,203,541-206,464,436)mRNA (may differ from genome)Protein (1071 aa)
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-  Comments and Description Text from UniProtKB
  ID: SRGP2_HUMAN
DESCRIPTION: RecName: Full=SLIT-ROBO Rho GTPase-activating protein 2; Short=srGAP2; AltName: Full=Formin-binding protein 2; AltName: Full=Rho GTPase-activating protein 34;
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.
SUBUNIT: Homodimer (Probable). Forms 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.
INTERACTION: O95466:FMNL1; NbExp=3; IntAct=EBI-1051034, EBI-720020; O14744:PRMT5; NbExp=4; IntAct=EBI-1051034, EBI-351098;
SUBCELLULAR LOCATION: Cell membrane. Cell projection, dendritic spine. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density (By similarity). Cell junction, synapse, postsynaptic cell membrane (By similarity). Cell projection, lamellipodium. Cytoplasmic vesicle, phagosome (By similarity). Nucleus (By similarity). Cytoplasm (By similarity). Note=Recruited to actin-rich phagosomes during phagocytosis (By similarity). Translocates from nucleus to cytoplasm during development (By similarity).
DOMAIN: The F-BAR domain mediates oligomerization, binds membranes, and induces plasma membrane protrusions.
PTM: Methylation at Arg-927 is required for the stimulation of cell migration, dimerization and localization at the plasma membrane protrusions.
DISEASE: Note=A chromosomal aberration disrupting SRGAP2 has been found in a patient with early infantile epileptic encephalopathy. Balanced translocation t(1;9)(q32;q13).
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.
SIMILARITY: Contains 1 FCH domain.
SIMILARITY: Contains 1 Rho-GAP domain.
SIMILARITY: Contains 1 SH3 domain.
SEQUENCE CAUTION: Sequence=BAA32301.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SRGAP2
Diseases sorted by gene-association score: infantile epileptic encephalopathy (10), familial hypocalciuric hypercalcemia (5), 3p- syndrome (5), van der woude syndrome (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -253.60652-0.389 Picture PostScript Text
3' UTR -908.003016-0.301 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001060 - FCH
IPR008936 - Rho_GTPase_activation_prot
IPR000198 - RhoGAP_dom
IPR001452 - SH3_domain

Pfam Domains:
PF00611 - Fes/CIP4, and EFC/F-BAR homology domain
PF00620 - RhoGAP domain
PF00018 - SH3 domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2DL8 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on O75044
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0048365 Rac GTPase binding

Biological Process:
GO:0003363 lamellipodium assembly involved in ameboidal cell migration
GO:0007165 signal transduction
GO:0007399 nervous system development
GO:0021816 extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration
GO:0034446 substrate adhesion-dependent cell spreading
GO:0043547 positive regulation of GTPase activity
GO:0046847 filopodium assembly
GO:0048812 neuron projection morphogenesis
GO:0051014 actin filament severing
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0060996 dendritic spine development
GO:2001223 negative regulation of neuron migration
GO:0008283 cell proliferation
GO:0060548 negative regulation of cell death

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0030027 lamellipodium
GO:0030054 cell junction
GO:0031410 cytoplasmic vesicle
GO:0042995 cell projection
GO:0043197 dendritic spine
GO:0044327 dendritic spine head
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:0045335 phagocytic vesicle


-  Descriptions from all associated GenBank mRNAs
  KX533503 - Homo sapiens sLIT-ROBO Rho GTPase-activating protein 2 (SRGAP2) mRNA, complete cds.
BC150646 - Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2, mRNA (cDNA clone IMAGE:9057017).
AK295845 - Homo sapiens cDNA FLJ60271 complete cds, highly similar to SLIT-ROBO Rho GTPase-activating protein 2.
BC132872 - Homo sapiens SLIT-ROBO Rho GTPase activating protein 2, mRNA (cDNA clone MGC:164503 IMAGE:40146894), complete cds.
BC132874 - Homo sapiens SLIT-ROBO Rho GTPase activating protein 2, mRNA (cDNA clone MGC:164505 IMAGE:40146896), complete cds.
BC144343 - Homo sapiens SLIT-ROBO Rho GTPase activating protein 2, mRNA (cDNA clone MGC:177880 IMAGE:9052863), complete cds.
AB007925 - Homo sapiens KIAA0456 mRNA for KIAA0456 protein.
AB463261 - Synthetic construct DNA, clone: pF1KA0456, Homo sapiens SRGAP2 gene for SLIT-ROBO Rho GTPase activating protein 2, without stop codon, in Flexi system.
AK293335 - Homo sapiens cDNA FLJ61210 complete cds, highly similar to SLIT-ROBO Rho GTPase-activating protein 2.
BC041635 - Homo sapiens SLIT-ROBO Rho GTPase activating protein 2, mRNA (cDNA clone IMAGE:4862729).
LF205337 - JP 2014500723-A/12840: Polycomb-Associated Non-Coding RNAs.
MA440914 - JP 2018138019-A/12840: Polycomb-Associated Non-Coding RNAs.
AK124556 - Homo sapiens cDNA FLJ42565 fis, clone BRACE3007472.
MK172839 - Homo sapiens CREBBP/SRGAP2B fusion, partial sequence.
S68466 - cytidine deaminase {5' region} [human, mRNA Partial, 301 nt].
DQ583051 - Homo sapiens piRNA piR-50163, complete sequence.
DQ593351 - Homo sapiens piRNA piR-33463, complete sequence.
LF319464 - JP 2014500723-A/126967: Polycomb-Associated Non-Coding RNAs.
MA555041 - JP 2018138019-A/126967: Polycomb-Associated Non-Coding RNAs.
LF319462 - JP 2014500723-A/126965: Polycomb-Associated Non-Coding RNAs.
MA555039 - JP 2018138019-A/126965: Polycomb-Associated Non-Coding RNAs.
AK294060 - Homo sapiens cDNA FLJ56407 complete cds, highly similar to SLIT-ROBO Rho GTPase-activating protein 2.
AK000885 - Homo sapiens cDNA FLJ10023 fis, clone HEMBA1000608, highly similar to SLIT-ROBO Rho GTPase-activating protein 2.
AK057565 - Homo sapiens cDNA FLJ33003 fis, clone THYMU1000240.
LF319457 - JP 2014500723-A/126960: Polycomb-Associated Non-Coding RNAs.
MA555034 - JP 2018138019-A/126960: Polycomb-Associated Non-Coding RNAs.
LF319455 - JP 2014500723-A/126958: Polycomb-Associated Non-Coding RNAs.
MA555032 - JP 2018138019-A/126958: Polycomb-Associated Non-Coding RNAs.
LF319454 - JP 2014500723-A/126957: Polycomb-Associated Non-Coding RNAs.
MA555031 - JP 2018138019-A/126957: Polycomb-Associated Non-Coding RNAs.
LF319451 - JP 2014500723-A/126954: Polycomb-Associated Non-Coding RNAs.
MA555028 - JP 2018138019-A/126954: Polycomb-Associated Non-Coding RNAs.
LF319450 - JP 2014500723-A/126953: Polycomb-Associated Non-Coding RNAs.
MA555027 - JP 2018138019-A/126953: Polycomb-Associated Non-Coding RNAs.
LF319449 - JP 2014500723-A/126952: Polycomb-Associated Non-Coding RNAs.
MA555026 - JP 2018138019-A/126952: Polycomb-Associated Non-Coding RNAs.
JD326445 - Sequence 307469 from Patent EP1572962.
JD235100 - Sequence 216124 from Patent EP1572962.
LF319448 - JP 2014500723-A/126951: Polycomb-Associated Non-Coding RNAs.
MA555025 - JP 2018138019-A/126951: Polycomb-Associated Non-Coding RNAs.
JD310263 - Sequence 291287 from Patent EP1572962.
JD403449 - Sequence 384473 from Patent EP1572962.
JD374708 - Sequence 355732 from Patent EP1572962.
JD515745 - Sequence 496769 from Patent EP1572962.
LF319447 - JP 2014500723-A/126950: Polycomb-Associated Non-Coding RNAs.
MA555024 - JP 2018138019-A/126950: Polycomb-Associated Non-Coding RNAs.
JD518802 - Sequence 499826 from Patent EP1572962.
JD375507 - Sequence 356531 from Patent EP1572962.
JD250698 - Sequence 231722 from Patent EP1572962.
JD232216 - Sequence 213240 from Patent EP1572962.
JD374895 - Sequence 355919 from Patent EP1572962.
JD545768 - Sequence 526792 from Patent EP1572962.
JD154129 - Sequence 135153 from Patent EP1572962.
LF319446 - JP 2014500723-A/126949: Polycomb-Associated Non-Coding RNAs.
MA555023 - JP 2018138019-A/126949: Polycomb-Associated Non-Coding RNAs.
JD130537 - Sequence 111561 from Patent EP1572962.
JD306026 - Sequence 287050 from Patent EP1572962.
JD096790 - Sequence 77814 from Patent EP1572962.
JD047297 - Sequence 28321 from Patent EP1572962.
JD538769 - Sequence 519793 from Patent EP1572962.
JD339111 - Sequence 320135 from Patent EP1572962.
JD249198 - Sequence 230222 from Patent EP1572962.
JD357413 - Sequence 338437 from Patent EP1572962.
JD520516 - Sequence 501540 from Patent EP1572962.
JD238596 - Sequence 219620 from Patent EP1572962.
JD440613 - Sequence 421637 from Patent EP1572962.
JD474990 - Sequence 456014 from Patent EP1572962.
JD173161 - Sequence 154185 from Patent EP1572962.
JD546577 - Sequence 527601 from Patent EP1572962.
JD380308 - Sequence 361332 from Patent EP1572962.
JD235637 - Sequence 216661 from Patent EP1572962.
JD486309 - Sequence 467333 from Patent EP1572962.
JD121344 - Sequence 102368 from Patent EP1572962.
JD291315 - Sequence 272339 from Patent EP1572962.
BC063527 - Homo sapiens SLIT-ROBO Rho GTPase activating protein 2, mRNA (cDNA clone IMAGE:4373170).
HV347488 - JP 2011513238-A/15: MICRO-RNAS THAT MODULATE SMOOTH MUSCLE PROLIFERATION AND DIFFERENTIATION AND USES THEREOF.
JD431657 - Sequence 412681 from Patent EP1572962.
JD419068 - Sequence 400092 from Patent EP1572962.
JD515836 - Sequence 496860 from Patent EP1572962.
JD069102 - Sequence 50126 from Patent EP1572962.
JD461576 - Sequence 442600 from Patent EP1572962.
HV347576 - JP 2011513238-A/103: MICRO-RNAS THAT MODULATE SMOOTH MUSCLE PROLIFERATION AND DIFFERENTIATION AND USES THEREOF.
JD469487 - Sequence 450511 from Patent EP1572962.
HV347580 - JP 2011513238-A/107: MICRO-RNAS THAT MODULATE SMOOTH MUSCLE PROLIFERATION AND DIFFERENTIATION AND USES THEREOF.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O75044 (Reactome details) participates in the following event(s):

R-HSA-5665802 SRGAP2 binds RAC1:GTP:FMNL1:profilin:G-actin
R-HSA-5665809 SRGAP2 stimulates RAC1 GTP-ase activity and ends FMNL1-mediated elongation of actin filaments
R-HSA-376145 SRGAP binds ROBO1:SLIT2
R-NUL-428517 SrGAP binds Robo:Slit
R-HSA-194922 GAPs inactivate Rho GTPase:GTP by hydrolysis
R-HSA-428533 Inactivation of CDC42
R-NUL-428519 Inactivation of Cdc42
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-428543 Inactivation of CDC42 and RAC1
R-HSA-195258 RHO GTPase Effectors
R-HSA-194840 Rho GTPase cycle
R-HSA-376176 Signaling by ROBO receptors
R-HSA-194315 Signaling by Rho GTPases
R-HSA-422475 Axon guidance
R-HSA-162582 Signal Transduction
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: ARHGAP34, ENST00000573034.1, ENST00000573034.2, ENST00000573034.3, ENST00000573034.4, ENST00000573034.5, ENST00000573034.6, ENST00000573034.7, FNBP2, KIAA0456, NM_015326, O75044, SRGAP2A, SRGP2_HUMAN, uc031vli.1, uc031vli.2, uc031vli.3
UCSC ID: ENST00000573034.8
RefSeq Accession: NM_015326
Protein: O75044 (aka SRGP2_HUMAN or SGA2_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.