ENSG00000128340


Homo sapiens

Features
Gene ID: ENSG00000128340
  
Biological name :RAC2
  
Synonyms : P15153 / RAC2 / Rac family small GTPase 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: -1
Band: q13.1
Gene start: 37225261
Gene end: 37244448
  
Corresponding Affymetrix probe sets: 207419_s_at (Human Genome U133 Plus 2.0 Array)   213603_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000249071
Ensembl peptide - ENSP00000403778
Ensembl peptide - ENSP00000385666
Ensembl peptide - ENSP00000385590
Ensembl peptide - ENSP00000385270
NCBI entrez gene - 5880     See in Manteia.
OMIM - 602049
RefSeq - XM_006724286
RefSeq - NM_002872
RefSeq Peptide - NP_002863
swissprot - A0A024R1P2
swissprot - B1AH79
swissprot - B1AH77
swissprot - P15153
swissprot - B1AH78
swissprot - B1AH80
Ensembl - ENSG00000128340
  
Related genetic diseases (OMIM): 608203 - Neutrophil immunodeficiency syndrome, 608203
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rac2ENSDARG00000038010Danio rerio
 RAC2ENSGALG00000012456Gallus gallus
 Rac2ENSMUSG00000033220Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
RAC1 / P63000 / Rac family small GTPase 1ENSG0000013623892
RAC3 / P60763 / Rac family small GTPase 3ENSG0000016975089
RHOG / P84095 / ras homolog family member GENSG0000017710571
CDC42 / P60953 / cell division cycle 42ENSG0000007083168
RHOQ / P17081 / ras homolog family member QENSG0000011972960
RHOJ / Q9H4E5 / ras homolog family member JENSG0000012678558
RHOU / Q7L0Q8 / ras homolog family member UENSG0000011657454
RHOV / Q96L33 / ras homolog family member VENSG0000010414051
O94844 / RHOBTB1 / Rho related BTB domain containing 1ENSG0000007242243
Q9BYZ6 / RHOBTB2 / Rho related BTB domain containing 2ENSG0000000885342


Protein motifs (from Interpro)
Interpro ID Name
 IPR001806  Small GTPase superfamily
 IPR003578  Small GTPase superfamily, Rho type
 IPR005225  Small GTP-binding protein domain
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006935 chemotaxis IEA
 biological_processGO:0007015 actin filament organization IMP
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007264 small GTPase mediated signal transduction IEA
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0010310 regulation of hydrogen peroxide metabolic process TAS
 biological_processGO:0010592 positive regulation of lamellipodium assembly IMP
 biological_processGO:0010810 regulation of cell-substrate adhesion IMP
 biological_processGO:0030031 cell projection assembly IEA
 biological_processGO:0030036 actin cytoskeleton organization IEA
 biological_processGO:0030168 platelet activation TAS
 biological_processGO:0042129 regulation of T cell proliferation IEA
 biological_processGO:0043304 regulation of mast cell degranulation IEA
 biological_processGO:0045453 bone resorption IEA
 biological_processGO:0045859 regulation of protein kinase activity IEA
 biological_processGO:0051056 regulation of small GTPase mediated signal transduction TAS
 biological_processGO:0060263 regulation of respiratory burst IDA
 biological_processGO:0060753 regulation of mast cell chemotaxis IEA
 biological_processGO:0071593 lymphocyte aggregation IMP
 biological_processGO:0090023 positive regulation of neutrophil chemotaxis IMP
 biological_processGO:1902622 regulation of neutrophil migration IMP
 biological_processGO:1903955 positive regulation of protein targeting to mitochondrion IMP
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005635 nuclear envelope IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005884 actin filament IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030027 lamellipodium IDA
 cellular_componentGO:0030670 phagocytic vesicle membrane TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003924 GTPase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005525 GTP binding IEA
 molecular_functionGO:0019887 protein kinase regulator activity IEA


Pathways (from Reactome)
Pathway description
GPVI-mediated activation cascade
Rho GTPase cycle
PCP/CE pathway
G alpha (12/13) signalling events
RHO GTPases Activate NADPH Oxidases


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001058 Poor wound healing 
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 HP:0001974 Leukocytosis "An abnormal increase in the number of `leukocytes` (CL:0000738) in the `blood` (FMA:9670)." [HPO:probinson]
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 HP:0002721 Immunodeficiency 
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 HP:0011990 Abnormality of neutrophil physiology "A functional abnormality of neutrophils." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / reaction / complex
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / reaction / complex
 ENSG00000100365 NCF4 / Q15080 / neutrophil cytosolic factor 4  / reaction / complex
 ENSG00000051523 CYBA / P13498 / cytochrome b-245 alpha chain  / complex / reaction
 ENSG00000141968 VAV1 / P15498 / vav guanine nucleotide exchange factor 1  / reaction
 ENSG00000158517 NCF1 / P14598 / neutrophil cytosolic factor 1  / complex / reaction
 ENSG00000076928 Q92888 / ARHGEF1 / Rho guanine nucleotide exchange factor 1  / reaction
 ENSG00000116701 NCF2 / P19878 / neutrophil cytosolic factor 2  / complex / reaction
 ENSG00000165168 CYBB / P04839 / cytochrome b-245 beta chain  / reaction / complex
 ENSG00000120063 GNA13 / Q14344 / G protein subunit alpha 13  / reaction






 

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