Human Gene RAC2 (ENST00000249071.11_10) from GENCODE V47lift37
  Description: Rac family small GTPase 2 (from RefSeq NM_002872.5)
Gencode Transcript: ENST00000249071.11_10
Gencode Gene: ENSG00000128340.16_12
Transcript (Including UTRs)
   Position: hg19 chr22:37,621,310-37,640,309 Size: 19,000 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr22:37,622,713-37,640,188 Size: 17,476 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:37,621,310-37,640,309)mRNA (may differ from genome)Protein (192 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RAC2_HUMAN
DESCRIPTION: RecName: Full=Ras-related C3 botulinum toxin substrate 2; AltName: Full=GX; AltName: Full=Small G protein; AltName: Full=p21-Rac2; Flags: Precursor;
FUNCTION: Plasma membrane-associated small GTPase which cycles between an active GTP-bound and inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses, such as secretory processes, phagocytose of apoptotic cells and epithelial cell polarization. Augments the production of reactive oxygen species (ROS) by NADPH oxidase.
ENZYME REGULATION: Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP, GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity, and GDP dissociation inhibitors which inhibit the dissociation of the nucleotide from the GTPase.
SUBUNIT: Interacts with DOCK2, which may activate it. Interacts with S100A8 and calprotectin (S100A8/9).
SUBCELLULAR LOCATION: Cytoplasm. Note=Membrane-associated when activated.
TISSUE SPECIFICITY: Hematopoietic specific.
DISEASE: Defects in RAC2 are the cause of neutrophil immunodeficiency syndrome (NEUID) [MIM:608203].
SIMILARITY: Belongs to the small GTPase superfamily. Rho family.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RAC2ID42021ch22q13.html";
WEB RESOURCE: Name=RAC2base; Note=RAC2 mutation db; URL="http://bioinf.uta.fi/RAC2base/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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: RAC2
Diseases sorted by gene-association score: neutrophil immunodeficiency syndrome* (1699), retinitis pigmentosa 47 (11), chronic granulomatous disease (5)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 482.66 RPKM in Whole Blood
Total median expression: 1257.78 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  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 -32.70121-0.270 Picture PostScript Text
3' UTR -240.10772-0.311 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
IPR005225 - Small_GTP-bd_dom
IPR001806 - Small_GTPase
IPR003578 - Small_GTPase_Rho

Pfam Domains:
PF00025 - ADP-ribosylation factor family
PF00071 - Ras family
PF08477 - Ras of Complex, Roc, domain of DAPkinase

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1DS6 - X-ray MuPIT 2W2T - X-ray MuPIT 2W2V - X-ray MuPIT 2W2X - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P15153
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003924 GTPase activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0019887 protein kinase regulator activity

Biological Process:
GO:0006935 chemotaxis
GO:0007015 actin filament organization
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007264 small GTPase mediated signal transduction
GO:0008284 positive regulation of cell proliferation
GO:0010310 regulation of hydrogen peroxide metabolic process
GO:0010592 positive regulation of lamellipodium assembly
GO:0010810 regulation of cell-substrate adhesion
GO:0030031 cell projection assembly
GO:0030036 actin cytoskeleton organization
GO:0042129 regulation of T cell proliferation
GO:0043304 regulation of mast cell degranulation
GO:0045453 bone resorption
GO:0045859 regulation of protein kinase activity
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0060263 regulation of respiratory burst
GO:0060753 regulation of mast cell chemotaxis
GO:0071593 lymphocyte aggregation
GO:0090023 positive regulation of neutrophil chemotaxis
GO:1902622 regulation of neutrophil migration
GO:1903955 positive regulation of protein targeting to mitochondrion

Cellular Component:
GO:0005622 intracellular
GO:0005635 nuclear envelope
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005925 focal adhesion
GO:0016020 membrane
GO:0030027 lamellipodium
GO:0030670 phagocytic vesicle membrane
GO:0070062 extracellular exosome
GO:0005884 actin filament


-  Descriptions from all associated GenBank mRNAs
  AF077208 - Homo sapiens HSPC022 mRNA, complete cds.
BC051899 - Homo sapiens ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2), mRNA (cDNA clone IMAGE:4428246).
BC018735 - Homo sapiens ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2), mRNA (cDNA clone IMAGE:4874755).
BC001485 - Homo sapiens ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2), mRNA (cDNA clone MGC:1383 IMAGE:3509104), complete cds.
JD455691 - Sequence 436715 from Patent EP1572962.
JD048295 - Sequence 29319 from Patent EP1572962.
JD305054 - Sequence 286078 from Patent EP1572962.
JD334265 - Sequence 315289 from Patent EP1572962.
JD254220 - Sequence 235244 from Patent EP1572962.
JD544173 - Sequence 525197 from Patent EP1572962.
JD449986 - Sequence 431010 from Patent EP1572962.
JD333803 - Sequence 314827 from Patent EP1572962.
JD468714 - Sequence 449738 from Patent EP1572962.
JD555723 - Sequence 536747 from Patent EP1572962.
JD126865 - Sequence 107889 from Patent EP1572962.
JD111426 - Sequence 92450 from Patent EP1572962.
JD060422 - Sequence 41446 from Patent EP1572962.
JD501310 - Sequence 482334 from Patent EP1572962.
JD186612 - Sequence 167636 from Patent EP1572962.
CR456555 - Homo sapiens RAC2 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.RAC2).
JD365716 - Sequence 346740 from Patent EP1572962.
M64595 - Human small G protein (Gx) mRNA, 3' end.
DQ893288 - Synthetic construct clone IMAGE:100005918; FLH195985.01X; RZPDo839B01154D ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) (RAC2) gene, encodes complete protein.
EU176461 - Synthetic construct Homo sapiens clone IMAGE:100006636; FLH264114.01X; RZPDo839E02257D ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) (RAC2) gene, encodes complete protein.
AF498965 - Homo sapiens small GTP binding protein RAC2 (RAC2) mRNA, complete cds.
BT006919 - Homo sapiens ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) mRNA, complete cds.
M29871 - Human ras-related C3 botulinum toxin substrate (rac) mRNA, complete cds.
CU013155 - Homo sapiens RAC2, mRNA (cDNA clone IMAGE:100000508), complete cds, with stop codon, in Gateway system.
CU674734 - Synthetic construct Homo sapiens gateway clone IMAGE:100016754 5' read RAC2 mRNA.
KJ897438 - Synthetic construct Homo sapiens clone ccsbBroadEn_06832 RAC2 gene, encodes complete protein.
KR710257 - Synthetic construct Homo sapiens clone CCSBHm_00010882 RAC2 (RAC2) mRNA, encodes complete protein.
DQ896620 - Synthetic construct Homo sapiens clone IMAGE:100011080; FLH195981.01L; RZPDo839B01153D ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) (RAC2) gene, encodes complete protein.
AB463213 - Synthetic construct DNA, clone: pF1KB8461, Homo sapiens RAC2 gene for ras-related C3 botulinum toxin substrate 2, without stop codon, in Flexi system.
CU013443 - Homo sapiens RAC2, mRNA (cDNA clone IMAGE:100000412), complete cds, without stop codon, in Gateway system.
AK096924 - Homo sapiens cDNA FLJ39605 fis, clone SKNSH2005981, weakly similar to RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 2.
JD033048 - Sequence 14072 from Patent EP1572962.
JD194236 - Sequence 175260 from Patent EP1572962.
JD406453 - Sequence 387477 from Patent EP1572962.
JD328304 - Sequence 309328 from Patent EP1572962.
JD521300 - Sequence 502324 from Patent EP1572962.
JD200664 - Sequence 181688 from Patent EP1572962.
JD140848 - Sequence 121872 from Patent EP1572962.

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

Protein P15153 (Reactome details) participates in the following event(s):

R-HSA-5668605 RAC2:GTP binds NOX2 complex
R-HSA-194894 Rho GTPase:GTP activates downstream effectors
R-HSA-194922 GAPs inactivate Rho GTPase:GTP by hydrolysis
R-HSA-194913 GEFs activate Rho GTPase:GDP
R-HSA-194854 GDIs block activation of Rho GTPase:GDP
R-HSA-114542 Rac1 activation of PI3K
R-HSA-114544 p115-RhoGEF activation of Rac1
R-HSA-442273 VAV1 is a GEF for Rho/Rac family kinases
R-HSA-3858475 ppDVL recruits RAC
R-HSA-195146 Dissociation of Rho GTP:GDP from GDI complex
R-HSA-5668629 Production of phagocyte oxygen radicals by NOX2 complex bound to RAC2:GTP
R-HSA-5668599 RHO GTPases Activate NADPH Oxidases
R-HSA-194840 Rho GTPase cycle
R-HSA-416482 G alpha (12/13) signalling events
R-HSA-114604 GPVI-mediated activation cascade
R-HSA-4086400 PCP/CE pathway
R-HSA-195258 RHO GTPase Effectors
R-HSA-194315 Signaling by Rho GTPases
R-HSA-388396 GPCR downstream signalling
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-3858494 Beta-catenin independent WNT signaling
R-HSA-162582 Signal Transduction
R-HSA-372790 Signaling by GPCR
R-HSA-109582 Hemostasis
R-HSA-195721 Signaling by WNT

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000249071.1, ENST00000249071.10, ENST00000249071.2, ENST00000249071.3, ENST00000249071.4, ENST00000249071.5, ENST00000249071.6, ENST00000249071.7, ENST00000249071.8, ENST00000249071.9, NM_002872, P15153, Q9UDJ4, RAC2_HUMAN, uc317eyx.1, uc317eyx.2
UCSC ID: ENST00000249071.11_10
RefSeq Accession: NM_002872.5
Protein: P15153 (aka RAC2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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