ENSG00000068831


Homo sapiens

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)
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)
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
 ENSG00000116473 RAP1A / P62834 / RAP1A, member of RAS oncogene family  / reaction
 ENSG00000127314 RAP1B / P61224 / RAP1B, member of RAS oncogene family  / reaction






 

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