Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RASGRP2 Gene

Aliases for RASGRP2 Gene

  • RAS Guanyl Releasing Protein 2 2 3 5
  • Calcium And DAG-Regulated Guanine Nucleotide Exchange Factor I 3 4
  • RAS Guanyl Releasing Protein 2 (Calcium And DAG-Regulated) 2 3
  • F25B3.3 Kinase-Like Protein 3 4
  • Cdc25-Like Protein 3 4
  • CDC25L 3 4
  • Calcium- And Diacylglycerol-Regulated Guanine Nucleotide Exchange Factor I 2
  • Calcium And Diacylglycerol-Regulated Guanine Nucleotide Exchange Factor I 3
  • RAS Guanyl Nucleotide-Releasing Protein 2 3
  • RAS Guanyl-Releasing Protein 2 3
  • Guanine Exchange Factor MCG7 3
  • CALDAG-GEFI 3
  • CalDAG-GEFI 4
  • HCDC25L 4
  • MCG7 4

External Ids for RASGRP2 Gene

Previous GeneCards Identifiers for RASGRP2 Gene

  • GC11M067010
  • GC11M066175
  • GC11M064270
  • GC11M064271
  • GC11M064250
  • GC11M064494
  • GC11M060821

Summaries for RASGRP2 Gene

Entrez Gene Summary for RASGRP2 Gene

  • The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Four alternatively spliced transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

GeneCards Summary for RASGRP2 Gene

RASGRP2 (RAS Guanyl Releasing Protein 2) is a Protein Coding gene. Diseases associated with RASGRP2 include Bleeding Disorder, Platelet-Type, 18 and Leukocyte Adhesion Deficiency, Type Iii. Among its related pathways are Effects of PIP2 hydrolysis and Integrin alphaIIb beta3 signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is RASGRP3.

UniProtKB/Swiss-Prot for RASGRP2 Gene

  • Functions as a calcium- and DAG-regulated nucleotide exchange factor specifically activating Rap through the exchange of bound GDP for GTP. May also activates other GTPases such as RRAS, RRAS2, NRAS, KRAS but not HRAS. Functions in aggregation of platelets and adhesion of T-lymphocytes and neutrophils probably through inside-out integrin activation. May function in the muscarinic acetylcholine receptor M1/CHRM1 signaling pathway.

Gene Wiki entry for RASGRP2 Gene

Additional gene information for RASGRP2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RASGRP2 Gene

Genomics for RASGRP2 Gene

GeneHancer (GH) Regulatory Elements for RASGRP2 Gene

Promoters and enhancers for RASGRP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J064742 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 657.9 +0.7 688 5.5 HDGF SIN3A DMAP1 ZNF2 POLR2B ZNF766 ZNF143 SP3 REST SMARCB1 RASGRP2 PCNX3 POLA2 ZFPL1 ENSG00000257086 FRMD8 SF1 KAT5 PLCB3 SCYL1
GH11J064776 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12 -33.6 -33555 4.8 HDGF FOXA2 PKNOX1 CLOCK ARNT ARID4B SIN3A ZNF2 YY1 POLR2B ENSG00000269038 SF1 GC11P064779 RASGRP2 MAP3K11 MEN1 GC11M064785
GH11J064766 Enhancer 0.9 ENCODE dbSUPER 12.5 -22.2 -22172 2.6 HDGF CTCF RB1 BACH1 SIN3A RAD21 HIC1 GLIS2 POLR2A SMC3 RASGRP2 MEN1 GC11P064771 GC11P064762 SF1
GH11J064798 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 5 -56.3 -56308 6 HDGF PKNOX1 ATF1 SIN3A IRF4 POLR2B GLIS2 E2F8 ELK1 ZNF143 MAP4K2 GC11P064802 ENSG00000269038 RASGRP2 MEN1 GC11M064785
GH11J064809 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 4.6 -65.0 -64963 2.3 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A YY1 ZNF766 ZNF207 ZNF143 MEN1 SLC22A12 RASGRP2 MAP4K2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RASGRP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RASGRP2 gene promoter:
  • c-Ets-1
  • YY1
  • GATA-2
  • CREB

Genomic Locations for RASGRP2 Gene

Genomic Locations for RASGRP2 Gene
chr11:64,726,911-64,745,456
(GRCh38/hg38)
Size:
18,546 bases
Orientation:
Minus strand
chr11:64,494,383-64,512,928
(GRCh37/hg19)
Size:
18,546 bases
Orientation:
Minus strand

Genomic View for RASGRP2 Gene

Genes around RASGRP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RASGRP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RASGRP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RASGRP2 Gene

Proteins for RASGRP2 Gene

  • Protein details for RASGRP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7LDG7-GRP2_HUMAN
    Recommended name:
    RAS guanyl-releasing protein 2
    Protein Accession:
    Q7LDG7
    Secondary Accessions:
    • A6NDC7
    • O00538
    • Q9UL65

    Protein attributes for RASGRP2 Gene

    Size:
    609 amino acids
    Molecular mass:
    69248 Da
    Quaternary structure:
    • Forms a signaling complex with RAP1 and BRAF (By similarity). Interacts with RAP1. Interacts with F-actin.

    Three dimensional structures from OCA and Proteopedia for RASGRP2 Gene

    Alternative splice isoforms for RASGRP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RASGRP2 Gene

Post-translational modifications for RASGRP2 Gene

No data available for DME Specific Peptides for RASGRP2 Gene

Domains & Families for RASGRP2 Gene

Gene Families for RASGRP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q7LDG7

UniProtKB/Swiss-Prot:

GRP2_HUMAN :
  • The N-terminal Ras-GEF domain mediates association with F-actin.
  • Belongs to the RASGRP family.
Domain:
  • The N-terminal Ras-GEF domain mediates association with F-actin.
Family:
  • Belongs to the RASGRP family.
genes like me logo Genes that share domains with RASGRP2: view

Function for RASGRP2 Gene

Molecular function for RASGRP2 Gene

UniProtKB/Swiss-Prot Function:
Functions as a calcium- and DAG-regulated nucleotide exchange factor specifically activating Rap through the exchange of bound GDP for GTP. May also activates other GTPases such as RRAS, RRAS2, NRAS, KRAS but not HRAS. Functions in aggregation of platelets and adhesion of T-lymphocytes and neutrophils probably through inside-out integrin activation. May function in the muscarinic acetylcholine receptor M1/CHRM1 signaling pathway.
UniProtKB/Swiss-Prot EnzymeRegulation:
Isoform 1 and isoform 2 are differently regulated by calcium and DAG.

Phenotypes From GWAS Catalog for RASGRP2 Gene

Gene Ontology (GO) - Molecular Function for RASGRP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA,TAS 9789079
GO:0005509 calcium ion binding TAS 9789079
GO:0008289 lipid binding TAS 9789079
GO:0019992 diacylglycerol binding NAS 10918068
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RASGRP2: view
genes like me logo Genes that share phenotypes with RASGRP2: view

Human Phenotype Ontology for RASGRP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RASGRP2 Gene

MGI Knock Outs for RASGRP2:

Animal Model Products

  • Taconic Biosciences Mouse Models for RASGRP2

miRNA for RASGRP2 Gene

miRTarBase miRNAs that target RASGRP2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RASGRP2 Gene

Localization for RASGRP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RASGRP2 Gene

Cytoplasm, cytosol. Cell membrane; Peripheral membrane protein. Cell junction, synapse, synaptosome. Cell projection, ruffle membrane; Peripheral membrane protein. Note=Found both in the cytosol and associated with membranes. Isoform 2 mainly localizes to the cell membrane. Enriched at juxtamembrane areas and membrane ruffles through association with F-actin. Localizes to the cell bodies and axons of striatal neurons (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RASGRP2 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 2

Gene Ontology (GO) - Cellular Components for RASGRP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA,IEA 10918068
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RASGRP2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RASGRP2 Gene

Pathways & Interactions for RASGRP2 Gene

genes like me logo Genes that share pathways with RASGRP2: view

Gene Ontology (GO) - Biological Process for RASGRP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 regulation of cell growth NAS 10918068
GO:0007165 signal transduction TAS 9789079
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0007265 Ras protein signal transduction NAS 10918068
GO:0035556 intracellular signal transduction IEA --
genes like me logo Genes that share ontologies with RASGRP2: view

No data available for SIGNOR curated interactions for RASGRP2 Gene

Drugs & Compounds for RASGRP2 Gene

(2) Drugs for RASGRP2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
Guanosine triphosphate Experimental Pharma 0

(4) Additional Compounds for RASGRP2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group B
  • 1-(9Z-Octadecenoyl)-2-hexadecanoyl-sn-glycerol
  • 1-O-Oleoyl-2-O-palmitoyl-sn-glycerol
  • DG (18:1(9Z)/16:0/0:0)
  • DG(18:1/16:0)
  • Diglyceride
Diglycerides Group C
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (11Z,14Z)-icosa-11,14-dienoic acid
  • DAG(15:0/0:0/20:2w6)
  • Diacylglycerol(15:0/0:0/20:2w6)
  • Diacylglycerol(15:0/0:0/20:2)
  • DAG(15:0/0:0/20:2n6)
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)
genes like me logo Genes that share compounds with RASGRP2: view

Transcripts for RASGRP2 Gene

Unigene Clusters for RASGRP2 Gene

RAS guanyl releasing protein 2 (calcium and DAG-regulated):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RASGRP2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14a ·
SP1: - - - - - - - - - - - - - - - -
SP2: - - - - - - - - - - - - -
SP3: - - - - - -
SP4: - - - -
SP5:
SP6: - - - - - - - - - - -
SP7: - - - - - -
SP8: - - - - -
SP9: - - - - - - - - - - - - - -
SP10: - - - - - - - - - - - - -
SP11: - - - - - - - - - - -
SP12: - - - - - - - - - -
SP13: - - - -
SP14: - - - - -
SP15: - -
SP16:
SP17: - -
SP18: - - - - - - - - -
SP19:
SP20:
SP21: - -
SP22:
SP23: - - - - - - - - -

ExUns: 14b · 14c ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - - -
SP5: - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: - -
SP16: -
SP17:
SP18:
SP19:
SP20: -
SP21:
SP22:
SP23:

Relevant External Links for RASGRP2 Gene

GeneLoc Exon Structure for
RASGRP2
ECgene alternative splicing isoforms for
RASGRP2

Expression for RASGRP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RASGRP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RASGRP2 Gene

This gene is overexpressed in Whole Blood (x12.3) and Spleen (x5.0).

Protein differential expression in normal tissues from HIPED for RASGRP2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (31.5), Blymphocyte (8.1), and Platelet (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RASGRP2 Gene



Protein tissue co-expression partners for RASGRP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of RASGRP2 Gene:

RASGRP2

SOURCE GeneReport for Unigene cluster for RASGRP2 Gene:

Hs.99491

mRNA Expression by UniProt/SwissProt for RASGRP2 Gene:

Q7LDG7-GRP2_HUMAN
Tissue specificity: Detected in platelets, neutrophils and T lymphocytes (at protein level). Expressed in brain where it is enriched in the striatum. Also expressed in the hematopoietic system. Detected in heart, brain, lung, placenta, liver, skeletal muscle and kidney.

Evidence on tissue expression from TISSUES for RASGRP2 Gene

  • Nervous system(4.6)
  • Spleen(4.4)
  • Blood(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RASGRP2 Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
Regions:
Head and neck:
  • face
  • head
  • nose
General:
  • blood
  • blood vessel
  • coagulation system
genes like me logo Genes that share expression patterns with RASGRP2: view

Orthologs for RASGRP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RASGRP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RASGRP2 34 33
  • 99.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RASGRP2 34 33
  • 92.02 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RASGRP2 34 33
  • 92 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rasgrp2 16 34 33
  • 88.87 (n)
rat
(Rattus norvegicus)
Mammalia Rasgrp2 33
  • 88.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RASGRP2 34
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RASGRP2 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101733706 33
  • 63.72 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC52798 33
zebrafish
(Danio rerio)
Actinopterygii rasgrp2 34 33
  • 64.35 (n)
OneToMany
RASGRP2 (2 of 2) 34
  • 64 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F25B3.3 35
  • 34 (a)
rgef-1 34
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
OneToMany
Species where no ortholog for RASGRP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RASGRP2 Gene

ENSEMBL:
Gene Tree for RASGRP2 (if available)
TreeFam:
Gene Tree for RASGRP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RASGRP2: view image

Paralogs for RASGRP2 Gene

(3) SIMAP similar genes for RASGRP2 Gene using alignment to 12 proteins:

  • GRP2_HUMAN
  • A6NDC7_HUMAN
  • A6NHE2_HUMAN
  • A6NJ28_HUMAN
  • A8MTF9_HUMAN
  • A8MVK8_HUMAN
  • C9JKH6_HUMAN
  • C9JZ82_HUMAN
  • E7EM78_HUMAN
  • E7EMB4_HUMAN
  • E7EWQ7_HUMAN
  • Q2YDB1_HUMAN

Pseudogenes.org Pseudogenes for RASGRP2 Gene

genes like me logo Genes that share paralogs with RASGRP2: view

Variants for RASGRP2 Gene

Sequence variations from dbSNP and Humsavar for RASGRP2 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1057516529 likely-pathogenic, Glycogen storage disease, type V 64,746,660(-) C/A upstream_transcript_variant
rs1057517001 likely-pathogenic, Glycogen storage disease, type V 64,746,948(-) G/A/T upstream_transcript_variant
rs1057517058 likely-pathogenic, Glycogen storage disease, type V 64,747,292(-) ACTGCTCAGCTGCT/ upstream_transcript_variant
rs1060499609 uncertain-significance, Platelet-type bleeding disorder 18 64,739,790(-) A/G coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant
rs119103258 pathogenic, Glycogen storage disease, type V, not provided 64,746,796(-) A/G/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RASGRP2 Gene

Variant ID Type Subtype PubMed ID
dgv153n27 CNV loss 19166990
dgv1965n54 CNV loss 21841781
dgv1967n54 CNV loss 21841781
nsv1069591 CNV deletion 25765185
nsv1126296 CNV deletion 24896259
nsv359 CNV deletion 18451855
nsv528506 CNV loss 19592680
nsv818842 CNV gain 17921354
nsv825946 CNV gain 20364138
nsv832189 CNV loss 17160897
nsv951012 CNV deletion 24416366

Variation tolerance for RASGRP2 Gene

Residual Variation Intolerance Score: 35.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.61; 30.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RASGRP2 Gene

Human Gene Mutation Database (HGMD)
RASGRP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RASGRP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RASGRP2 Gene

Disorders for RASGRP2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for RASGRP2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GRP2_HUMAN
  • Bleeding disorder, platelet-type 18 (BDPLT18) [MIM:615888]: A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. {ECO:0000269 PubMed:24958846, ECO:0000269 PubMed:27235135, ECO:0000269 PubMed:28726538, ECO:0000269 PubMed:28762304}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RASGRP2

genes like me logo Genes that share disorders with RASGRP2: view

No data available for Genatlas for RASGRP2 Gene

Publications for RASGRP2 Gene

  1. Characterization of RasGRP2, a plasma membrane-targeted, dual specificity Ras/Rap exchange factor. (PMID: 10918068) Clyde-Smith J … Hancock JF (The Journal of biological chemistry 2000) 3 4 22 58
  2. A Rap guanine nucleotide exchange factor enriched highly in the basal ganglia. (PMID: 9789079) Kawasaki H … Graybiel AM (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 58
  3. Marked bleeding diathesis in patients with platelet dysfunction due to a novel mutation in RASGRP2, encoding CalDAG-GEFI (p.Gly305Asp). (PMID: 28726538) Bermejo E … Bergmeier W (Platelets 2018) 3 4 58
  4. Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction. (PMID: 27235135) Lozano ML … Rivera J (Blood 2016) 3 4 58
  5. Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding. (PMID: 24958846) Canault M … Tregouet DA (The Journal of experimental medicine 2014) 3 4 58

Products for RASGRP2 Gene