ENSG00000068831


Homo sapiens
domainRASGRP2exchangefactorrassignaltransductionbindingef-handregulationcellionmembraneguaninenucleotideguanine-nucleotidecatalyticproteinsuperfamilygtpasemediatedintracellularactivitycalciumprojectionras-liken-terminalfactorskinasec-likephorbol

Features
Gene ID: ENSG00000068831
  
Biological name :RASGRP2
  
Synonyms : Q7LDG7 / RASGRP2 / RAS guanyl releasing protein 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q13.1
Gene start: 64726911
Gene end: 64745456
  
Corresponding Affymetrix probe sets: 208206_s_at (Human Genome U133 Plus 2.0 Array)   214367_at (Human Genome U133 Plus 2.0 Array)   214368_at (Human Genome U133 Plus 2.0 Array)   214369_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000366717
Ensembl peptide - ENSP00000401510
Ensembl peptide - ENSP00000401314
Ensembl peptide - ENSP00000399114
Ensembl peptide - ENSP00000399028
Ensembl peptide - ENSP00000396029
Ensembl peptide - ENSP00000389068
Ensembl peptide - ENSP00000377953
Ensembl peptide - ENSP00000377951
Ensembl peptide - ENSP00000377950
Ensembl peptide - ENSP00000377949
Ensembl peptide - ENSP00000338864
Ensembl peptide - ENSP00000366705
Ensembl peptide - ENSP00000366706
Ensembl peptide - ENSP00000366707
Ensembl peptide - ENSP00000366709
Ensembl peptide - ENSP00000366714
NCBI entrez gene - 10235     See in Manteia.
OMIM - 605577
RefSeq - XM_011544720
RefSeq - XM_005273707
RefSeq - XM_011544718
RefSeq - XM_017017083
RefSeq - XM_017017082
RefSeq - XM_011544725
RefSeq - XM_011544723
RefSeq - XM_011544722
RefSeq - NM_001098670
RefSeq - NM_001098671
RefSeq - NM_001318398
RefSeq - NM_153819
RefSeq - XM_017017086
RefSeq - XM_011544721
RefSeq - XM_017017084
RefSeq - XM_017017085
RefSeq Peptide - NP_001092141
RefSeq Peptide - NP_001092140
RefSeq Peptide - NP_001305327
RefSeq Peptide - NP_722541
swissprot - Q7LDG7
swissprot - E7EWQ7
swissprot - A6NHE2
swissprot - A6NJ28
swissprot - A8MTF9
swissprot - A8MVK8
swissprot - C9JKH6
swissprot - C9JZ82
swissprot - E7EM78
swissprot - E7EMB4
Ensembl - ENSG00000068831
  
Related genetic diseases (OMIM): 615888 - ?Bleeding disorder, platelet-type, 18, 615888
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
 rasgrp2ENSDARG00000062328Danio rerio
 RASGRP2ENSDARG00000099092Danio rerio
 Q9QUG9ENSMUSG00000032946Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q8IV61 / RASGRP3 / RAS guanyl releasing protein 3ENSG0000015268952
O95267 / RASGRP1 / RAS guanyl releasing protein 1ENSG0000017257543
Q8TDF6 / RASGRP4 / RAS guanyl releasing protein 4ENSG0000017177741
Q9Y4G8 / RAPGEF2 / Rap guanine nucleotide exchange factor 2ENSG0000010975617
Q8TEU7 / RAPGEF6 / Rap guanine nucleotide exchange factor 6ENSG0000015898717
AC008695.1ENSG0000027321716
O95398 / RAPGEF3 / Rap guanine nucleotide exchange factor 3ENSG0000007933715
Q8N431 / RASGEF1C / RasGEF domain family member 1CENSG0000014609014
Q8WZA2 / RAPGEF4 / Rap guanine nucleotide exchange factor 4ENSG0000009142813
Q8N9B8 / RASGEF1A / RasGEF domain family member 1AENSG0000019891513
Q92565 / RAPGEF5 / Rap guanine nucleotide exchange factor 5ENSG0000013623712
Q0VAM2 / RASGEF1B / RasGEF domain family member 1BENSG0000013867012
Q9UHV5 / RAPGEFL1 / Rap guanine nucleotide exchange factor like 1ENSG0000010835210


Protein motifs (from Interpro)
Interpro ID Name
 IPR000651  Ras-like guanine nucleotide exchange factor, N-terminal
 IPR001895  Ras guanine-nucleotide exchange factors catalytic domain
 IPR002048  EF-hand domain
 IPR002219  Protein kinase C-like, phorbol ester/diacylglycerol-binding domain
 IPR011992  EF-hand domain pair
 IPR018247  EF-Hand 1, calcium-binding site
 IPR023578  Ras guanine nucleotide exchange factor domain superfamily
 IPR036964  Ras guanine-nucleotide exchange factor catalytic domain superfamily


Gene Ontology (GO)
cellular component organizationcell growthcell communicationcellular response to stimulusregulation of molecular functionresponse to chemicalcellular component organizationcell growthcell communicationcellular response to stimulusregulation of molecular functionresponse to chemicalcellular component organizationcell growthcell communicationcellular response to stimulusregulation of molecular functionresponse to chemicalcellular component organizationcell growthcell communicationcellular response to stimulusregulation of molecular functionresponse to chemicalcellular component organizationcell growthcell communicationcellular response to stimulusregulation of molecular functionresponse to chemicalcellular component organizationcell growthcell communicationcellular response to stimulusregulation of molecular functionresponse to chemicalcellular component organizationcell growthcell communicationcellular response to stimulusregulation of molecular functionresponse to chemicalcellular component organizationcell growthcell communicationcellular response to stimulusregulation of molecular functionresponse to chemicalcellular component organizationcell growthcell communicationcellular response to stimulusregulation of molecular functionresponse to chemicalcellular component organizationcell growthcell communicationcellular response to stimulusregulation of molecular functionresponse to chemicalcellular component orgacellular component organizationcell growthcell growthcell communicationcell communicationcellular response to stcellular response to stimulusregulation of molecularregulation of molecular functionresponse to chemicalresponse to chemical
protein bindingion bindinglipid bindingprotein bindingion bindinglipid bindingprotein bindingion bindinglipid bindingprotein bindingion bindinglipid bindingprotein bindingion bindinglipid bindingprotein bindingion bindinglipid bindingprotein bindingion bindinglipid bindingprotein bindingion bindinglipid bindingprotein bindingion bindinglipid bindingprotein bindingion bindinglipid bindingprotein bindingprotein bindingion bindingion bindinglipid bindinglipid binding
cellmembranecell junctionsynapsecellmembranecell junctionsynapsecellmembranecell junctionsynapsecellmembranecell junctionsynapsecellmembranecell junctionsynapsecellmembranecell junctionsynapsecellmembranecell junctionsynapsecellmembranecell junctionsynapsecellmembranecell junctionsynapsecellmembranecell junctionsynapsecellcellmembranemembranecell junctioncell junctionsynapsesynapse
TypeGO IDTermEv.Code
 biological_processGO:0001558 regulation of cell growth NAS
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0007264 small GTPase mediated signal transduction IEA
 biological_processGO:0007265 Ras protein signal transduction NAS
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0043547 positive regulation of GTPase activity IDA
 biological_processGO:0065009 regulation of molecular function IEA
 biological_processGO:0071277 cellular response to calcium ion IDA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0032587 ruffle membrane IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0045202 synapse IEA
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0005509 calcium ion binding TAS
 molecular_functionGO:0008289 lipid binding TAS
 molecular_functionGO:0019992 diacylglycerol binding NAS
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Effects of PIP2 hydrolysis
FCERI mediated NF-kB activation
Integrin alphaIIb beta3 signaling
Rap1 signalling


Phenotype (from MGI, Zfin or HPO)
Autosomal recessive inheritanceHead and neck abnormalityHematological abnormalityAge of onsetAutosomal recessive inheritanceHead and neck abnormalityHematological abnormalityAge of onsetAutosomal recessive inheritanceHead and neck abnormalityHematological abnormalityAge of onsetAutosomal recessive inheritanceHead and neck abnormalityHematological abnormalityAge of onsetAutosomal recessive inheritanceHead and neck abnormalityHematological abnormalityAge of onsetAutosomal recessive inheritanceHead and neck abnormalityHematological abnormalityAge of onsetAutosomal recessive inheritanceHead and neck abnormalityHematological abnormalityAge of onsetAutosomal recessive inheritanceHead and neck abnormalityHematological abnormalityAge of onsetAutosomal recessive inheritanceHead and neck abnormalityHematological abnormalityAge of onsetAutosomal recessive inheritanceHead and neck abnormalityHematological abnormalityAge of onsetAutosomal recessive inheritanceAutosomal recessive inheritanceHead and neck abnormalityHead and neck abnormalityHematological abnormalityHematological abnormalityAge of onsetAge of onset
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000421 Epistaxis 
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 HP:0003010 Prolonged bleeding time 
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 HP:0003593 Early onset 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000127314 RAP1B / P61224 / RAP1B, member of RAS oncogene family  / reaction
 ENSG00000116473 RAP1A / P62834 / RAP1A, member of RAS oncogene family  / reaction






 

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