ENSMUSG00000062232


Mus musculus

Features
Gene ID: ENSMUSG00000062232
  
Biological name :Rapgef2
  
Synonyms : Q8CHG7 / Rapgef2 / Rap guanine nucleotide exchange factor 2
  
Possible biological names infered from orthology : Q9Y4G8
  
Species: Mus musculus
  
Chr. number: 3
Strand: -1
Band: E3
Gene start: 79062516
Gene end: 79286517
  
Corresponding Affymetrix probe sets: 10498802 (MoGene1.0st)   1452833_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000141542
Ensembl peptide - ENSMUSP00000113778
Ensembl peptide - ENSMUSP00000114119
NCBI entrez gene - 76089     See in Manteia.
MGI - MGI:2659071
RefSeq - XM_011240277
RefSeq - NM_001310536
RefSeq - XM_006502250
RefSeq - XM_006502252
RefSeq - XM_006502254
RefSeq - XM_011240276
RefSeq - NM_001099624
RefSeq Peptide - NP_001093094
RefSeq Peptide - NP_001297465
swissprot - E9QNQ4
swissprot - Q8CHG7
swissprot - A0A0A6YWG7
Ensembl - ENSMUSG00000062232
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rapgef2ENSDARG00000005482Danio rerio
 RAPGEF2ENSGALG00000020249Gallus gallus
 Q9Y4G8ENSG00000109756Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Rapgef6 / Rap guanine nucleotide exchange factor (GEF) 6 / Q8TEU7* / AC008695.1* / Rap guanine nucleotide exchange factor 6*ENSMUSG0000003753365
Q8VCC8 / Rapgef3 / Mus musculus Rap guanine nucleotide exchange factor (GEF) 3 (Rapgef3), transcript variant 4, mRNA. / O95398* / Rap guanine nucleotide exchange factor 3*ENSMUSG0000002246914
Q9EQZ6 / Rapgef4 / Rap guanine nucleotide exchange factor (GEF) 4 / Q8WZA2* / Rap guanine nucleotide exchange factor 4*ENSMUSG0000004904414
Q8C0Q9 / Rapgef5 / Rap guanine nucleotide exchange factor 5 / Q92565*ENSMUSG0000004199213
Q68EF8 / Rapgefl1 / Rap guanine nucleotide exchange factor-like 1 / Q9UHV5*ENSMUSG000000380209
Q9Z1S3 / Rasgrp1 / RAS guanyl releasing protein 1 / O95267*ENSMUSG000000273479
Rasgrp3 / RAS, guanyl releasing protein 3 / Q8IV61*ENSMUSG000000710428
Q8JZL7 / Rasgef1b / Ras-GEF domain-containing family member 1B / Q0VAM2* / RasGEF domain family member 1B*ENSMUSG000000898098
Q8BTM9 / Rasgrp4 / RAS guanyl releasing protein 4 / Q8TDF6*ENSMUSG000000305898
Rasgef1a / RasGEF domain family, member 1A / Q8N9B8*ENSMUSG000000301348
Q9QUG9 / Rasgrp2 / RAS, guanyl releasing protein 2 / Q7LDG7*ENSMUSG000000329467
Q9D300 / Rasgef1c / Ras-GEF domain-containing family member 1C / Q8N431* / RasGEF domain family member 1C*ENSMUSG000000203747


Protein motifs (from Interpro)
Interpro ID Name
 IPR000159  Ras-associating (RA) domain
 IPR000595  Cyclic nucleotide-binding domain
 IPR000651  Ras-like guanine nucleotide exchange factor, N-terminal
 IPR001478  PDZ domain
 IPR001895  Ras guanine-nucleotide exchange factors catalytic domain
 IPR014710  RmlC-like jelly roll fold
 IPR018490  Cyclic nucleotide-binding-like
 IPR023578  Ras guanine nucleotide exchange factor domain superfamily
 IPR029071  Ubiquitin-like domain superfamily
 IPR030739  Rap guanine nucleotide exchange factor 2
 IPR036034  PDZ superfamily
 IPR036964  Ras guanine-nucleotide exchange factor catalytic domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001568 blood vessel development IMP
 biological_processGO:0001764 neuron migration IMP
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway IEA
 biological_processGO:0007218 neuropeptide signaling pathway IEA
 biological_processGO:0007264 small GTPase mediated signal transduction IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0008285 negative regulation of cell proliferation IEA
 biological_processGO:0010976 positive regulation of neuron projection development ISS
 biological_processGO:0019933 cAMP-mediated signaling IEA
 biological_processGO:0021591 ventricular system development IMP
 biological_processGO:0021884 forebrain neuron development IMP
 biological_processGO:0030033 microvillus assembly IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0031175 neuron projection development IEA
 biological_processGO:0031547 brain-derived neurotrophic factor receptor signaling pathway ISS
 biological_processGO:0032092 positive regulation of protein binding IDA
 biological_processGO:0032486 Rap protein signal transduction IEA
 biological_processGO:0038180 nerve growth factor signaling pathway ISS
 biological_processGO:0042127 regulation of cell proliferation IEA
 biological_processGO:0043547 positive regulation of GTPase activity IEA
 biological_processGO:0043950 positive regulation of cAMP-mediated signaling IEA
 biological_processGO:0045860 positive regulation of protein kinase activity IEA
 biological_processGO:0048022 negative regulation of melanin biosynthetic process IMP
 biological_processGO:0048167 regulation of synaptic plasticity ISS
 biological_processGO:0050774 negative regulation of dendrite morphogenesis IEA
 biological_processGO:0061028 establishment of endothelial barrier IEA
 biological_processGO:0070374 positive regulation of ERK1 and ERK2 cascade IEA
 biological_processGO:0071320 cellular response to cAMP IEA
 biological_processGO:0071321 cellular response to cGMP IEA
 biological_processGO:0071880 adenylate cyclase-activating adrenergic receptor signaling pathway IEA
 biological_processGO:0072659 protein localization to plasma membrane IEA
 biological_processGO:0090557 establishment of endothelial intestinal barrier IEA
 biological_processGO:1901888 regulation of cell junction assembly IEA
 biological_processGO:1990090 cellular response to nerve growth factor stimulus ISS
 biological_processGO:2000481 positive regulation of cAMP-dependent protein kinase activity IEA
 biological_processGO:2000670 positive regulation of dendritic cell apoptotic process IEA
 biological_processGO:2001214 positive regulation of vasculogenesis IMP
 biological_processGO:2001224 positive regulation of neuron migration IMP
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005770 late endosome IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane ISS
 cellular_componentGO:0005911 cell-cell junction ISS
 cellular_componentGO:0005923 bicellular tight junction IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030139 endocytic vesicle IEA
 cellular_componentGO:0032991 protein-containing complex ISS
 cellular_componentGO:0043005 neuron projection ISS
 cellular_componentGO:0043025 neuronal cell body ISS
 cellular_componentGO:0045202 synapse ISS
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0005088 Ras guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0005096 GTPase activator activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0017034 Rap guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0030165 PDZ domain binding IEA
 molecular_functionGO:0030552 cAMP binding IEA
 molecular_functionGO:0031697 beta-1 adrenergic receptor binding IEA
 molecular_functionGO:0050699 WW domain binding IEA
 molecular_functionGO:0070300 phosphatidic acid binding IEA


Pathways (from Reactome)
Pathway description
RAF/MAP kinase cascade


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000215 absent erythrocytes "lack of mature red blood cells" [J:23061]
Show

Allelic Composition: Rapgef2tm1.2Hous/Rapgef2tm1.2Hous
Genetic Background: involves: 129S1/Sv

 MP:0000245 abnormal erythropoiesis "atypical process of red blood cell formation" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator]
Show

Allelic Composition: Rapgef2tm1.2Hous/Rapgef2tm1.2Hous
Genetic Background: involves: 129S1/Sv

 MP:0000259 abnormal vascular development "malformation or aberrant differentiation of the blood vessels" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17509]
Show

Allelic Composition: Smad3tm1Par/Smad3tm1Par
Genetic Background: 129-Smad3tm1Par/J

Allelic Composition: Rapgef2tm1.1Hous/Rapgef2tm1.1Hous,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

Allelic Composition: Rapgef2tm1.2Hous/Rapgef2tm1.2Hous
Genetic Background: involves: 129S1/Sv

 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
Show

Allelic Composition: Rapgef2tm1.2Hous/Rapgef2tm1.2Hous
Genetic Background: involves: 129S1/Sv

 MP:0000352 decreased cell proliferation "less than the normal growth and reproduction of similar cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Rapgef2tm1.1Hous/Rapgef2tm1.1Hous
Genetic Background: involves: 129S1/Sv

 MP:0000596 abnormal liver development "anomalous differentiation of the liver" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Rapgef2tm1.1Hous/Rapgef2tm1.1Hous
Genetic Background: involves: 129S1/Sv

 MP:0000603 pale liver "liver lacking normal coloration, often refers to bloodless condition" [J:18048]
Show

Allelic Composition: Tg(Lck-cre)1Cwi/0,Toxtm1Kay/Toxtm1Kay
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0000913 abnormal brain development "malformed or incomplete differentiation of the brain" [MGI:cls, J:49840]
Show

Allelic Composition: Rapgef2tm1.2Hous/Rapgef2tm1.2Hous
Genetic Background: involves: 129S1/Sv

 MP:0000930 wavy neural tube "undulations in the embryonic neural tube" [J:37888]
Show

Allelic Composition: Smad3tm1Par/Smad3tm1Par
Genetic Background: 129-Smad3tm1Par/J

 MP:0001201 translucent skin "skin that is more transparent to light than normal " [J:15108]
Show

Allelic Composition: Rapgef2tm1.2Hous/Rapgef2tm1.2Hous
Genetic Background: involves: 129S1/Sv

 MP:0001622 abnormal vasculogenesis "aberrant process of the initial establishment of the vascular network " [J:67296, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Smad3tm1Par/Smad3tm1Par
Genetic Background: 129-Smad3tm1Par/J

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
Show

Allelic Composition: Smad3tm1Par/Smad3tm1Par
Genetic Background: 129-Smad3tm1Par/J

Allelic Composition: Rapgef2tm1.2Hous/Rapgef2tm1.2Hous
Genetic Background: involves: 129S1/Sv

 MP:0001701 incomplete embryo turning "arrest of the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (E8.5-E9.5)" [J:62571]
Show

Allelic Composition: Smad3tm1Par/Smad3tm1Par
Genetic Background: 129-Smad3tm1Par/J

 MP:0001719 absent vitelline blood vessels "missing vasculature of the yolk sac" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:62571, J:12623]
Show

Allelic Composition: Smad3tm1Par/Smad3tm1Par
Genetic Background: 129-Smad3tm1Par/J

Allelic Composition: Rapgef2tm1.2Hous/Rapgef2tm1.2Hous
Genetic Background: involves: 129S1/Sv

 MP:0001722 pale yolk sac "bloodless yolk sac" [J:62571]
Show

Allelic Composition: Smad3tm1Par/Smad3tm1Par
Genetic Background: 129-Smad3tm1Par/J

 MP:0001730 embryonic growth arrest "the cessation of development beyond a particular stage" [J:17509]
Show

Allelic Composition: Smad3tm1Par/Smad3tm1Par
Genetic Background: 129-Smad3tm1Par/J

 MP:0001890 anencephaly "absence of the bones of the cranial vault and absent or rudimentary cerebral and cerebellar hemispheres, brainstem, and basal ganglia" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:31571]
Show

Allelic Composition: Smad3tm1Par/Smad3tm1Par
Genetic Background: 129-Smad3tm1Par/J

 MP:0002123 abnormal hematopoiesis "abnormal development of the enucleated fetal and adult erythrocytes that develop in the aorta, genital ridge and mesonephros region and later in the fetal and adult liver" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tg(Lck-cre)1Cwi/0,Toxtm1Kay/Toxtm1Kay
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0002875 decreased erythrocyte count "reduced number of the cells in the blood that carry oxygen, red blood cells, per unit" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Smad3tm1Par/Smad3tm1Par
Genetic Background: 129-Smad3tm1Par/J

 MP:0003054 spina bifida "common congenital midline defect of fusion of the vertebral arch" [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
Show

Allelic Composition: Smad3tm1Par/Smad3tm1Par
Genetic Background: 129-Smad3tm1Par/J

 MP:0003091 abnormal cell migration "defect in the movement of cells during developmental processes" [smb:Susan M. Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Rapgef2tm1.2Hous/Rapgef2tm1.2Hous
Genetic Background: involves: 129S1/Sv

 MP:0003119 abnormal digestive system development "dysmorphology of the organ system that converts ingested food to nutrients and energy" [smb:Susan M. Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Rapgef2tm1.2Hous/Rapgef2tm1.2Hous
Genetic Background: involves: 129S1/Sv

 MP:0003396 abnormal embryonic hematopoiesis "anomaly in the development of primarily large, nucleated erythroblasts as well as some megakaryocytes and primitive macrophages occuring in blood islands in the yolk sac, generally occurs from E7-E11 in the mouse and through 10 weeks in humans " [J:94136, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Rapgef2tm1.2Hous/Rapgef2tm1.2Hous
Genetic Background: involves: 129S1/Sv

 MP:0003566 abnormal cell adhesion "altered ability of a cell to adhere to another cell or to a non-cellular component of the environment" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Rapgef2tm1.2Hous/Rapgef2tm1.2Hous
Genetic Background: involves: 129S1/Sv

 MP:0003717 pallor "an unnatural paleness to the skin, generally attributable to anemia" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Rapgef2tm1.1Hous/Rapgef2tm1.1Hous,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

 MP:0004188 delayed embryo turning "completion of axial rotation occurs later than in controls but is eventually completed" [smb:Susan M Bello, Mouse Genome Informatics Curator ""]
Show

Allelic Composition: Smad3tm1Par/Smad3tm1Par
Genetic Background: 129-Smad3tm1Par/J

 MP:0004259 small placenta "reduced size of the size or shape of the organ of metabolic interchange between fetus and mother" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Smad3tm1Par/Smad3tm1Par
Genetic Background: 129-Smad3tm1Par/J

 MP:0004556 enlarged allantois "increased size of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Smad3tm1Par/Smad3tm1Par
Genetic Background: 129-Smad3tm1Par/J

 MP:0004810 decreased hematopoietic stem cell number "reduced cell count of the multipotent, self-renewing stem cells found in the bone marrow and the fetal liver; these give rise to all the types of both the myeloid and lymphoid cell lineages" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rapgef2tm1.2Hous/Rapgef2tm1.2Hous
Genetic Background: involves: 129S1/Sv

 MP:0008813 decreased common myeloid progenitor cell number "reduced number of progenitor cells committed to myeloid lineage, including the megakaryocyte and erythroid lineages" [CL:0000049, MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rapgef2tm1.2Hous/Rapgef2tm1.2Hous
Genetic Background: involves: 129S1/Sv

 MP:0008973 decreased erythroid progenitor cell number "reduced numbers of progenitors of the erythrocyte lineage" [CL:0000038, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rapgef2tm1.1Hous/Rapgef2tm1.1Hous,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

Allelic Composition: Rapgef2tm1.2Hous/Rapgef2tm1.2Hous
Genetic Background: involves: 129S1/Sv

 MP:0009703 decreased birth body size "reduction in average body size at birth compared to controls" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rapgef2tm1.1Hous/Rapgef2tm1.1Hous,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

 MP:0010763 abnormal hematopoietic stem cell physiology "any functional anomaly or number of the multipotent, self-renewing stem cells found in the bone marrow and the fetal liver; HSCs give rise to all the types of both the myeloid and lymphoid cell lineages" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rapgef2tm1.2Hous/Rapgef2tm1.2Hous
Genetic Background: involves: 129S1/Sv

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Smad3tm1Par/Smad3tm1Par
Genetic Background: 129-Smad3tm1Par/J

Allelic Composition: Rapgef2tm1.2Hous/Rapgef2tm1.2Hous
Genetic Background: involves: 129S1/Sv

 MP:0011109 partial lethality throughout fetal growth and development "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Rapgef2tm1.1Hous/Rapgef2tm1.1Hous,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

Allelic Composition: Rapgef2tm1.1Hous/Rapgef2tm1.1Hous
Genetic Background: involves: 129S1/Sv

 MP:0011204 abnormal visceral yolk sac blood island morphology "any structural anomaly of the masses of developing blood cells attached to endothelium in the yolk sac" [PMID:16140152]
Show

Allelic Composition: Smad3tm1Par/Smad3tm1Par
Genetic Background: 129-Smad3tm1Par/J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

1 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr