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
  • RAS Guanyl Releasing Protein 2 (Calcium And DAG-Regulated) 2 3 5
  • Calcium And DAG-Regulated Guanine Nucleotide Exchange Factor I 3 4
  • F25B3.3 Kinase-Like Protein 3 4
  • Cdc25-Like Protein 3 4
  • CALDAG-GEFI 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
  • Guanine Exchange Factor MCG7 3
  • 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 Bleeding Disorder Due To Caldag-Gefi Deficiency. Among its related pathways are Platelet activation and Integrin alphaIIb beta3 signaling. GO annotations related to this gene include calcium ion binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is RASGEF1A.

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

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

Genomics for RASGRP2 Gene

Regulatory Elements for RASGRP2 Gene

Enhancers for RASGRP2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RASGRP2 on UCSC Golden Path with GeneCards custom track

Promoters for RASGRP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RASGRP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for RASGRP2 Gene

Chromosome:
11
Start:
64,726,911 bp from pter
End:
64,745,456 bp from pter
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

Proteomics data for RASGRP2 Gene at MOPED

Post-translational modifications for RASGRP2 Gene

  • Isoform 2 is palmitoylated and myristoylated while isoform 1.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RASGRP2 Gene

Domains & Families for RASGRP2 Gene

Gene Families for RASGRP2 Gene

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.
  • Contains 1 phorbol-ester/DAG-type zinc finger.
Domain:
  • The N-terminal Ras-GEF domain mediates association with F-actin.
  • Contains 2 EF-hand domains.
  • Contains 1 N-terminal Ras-GEF domain.
  • Contains 1 Ras-GEF domain.
Family:
  • Belongs to the RASGRP family.
Similarity:
  • Contains 1 phorbol-ester/DAG-type zinc finger.
genes like me logo Genes that share domains with RASGRP2: view

Function for RASGRP2 Gene

Molecular function for RASGRP2 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Isoform 1 and isoform 2 are differently regulated by calcium and DAG.
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.
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

CRISPR Products

miRNA for RASGRP2 Gene

miRTarBase miRNAs that target RASGRP2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for RASGRP2 Gene COMPARTMENTS Subcellular localization image for RASGRP2 gene
Compartment Confidence
cytosol 5
plasma membrane 5
nucleus 2

Gene Ontology (GO) - Cellular Components for RASGRP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005829 cytosol TAS --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with RASGRP2: view

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:0007165 signal transduction TAS 9789079
GO:0030168 platelet activation TAS --
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
Guanosine triphosphate Experimental Pharma 0
calcium Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Myristoyl-3-stearoyl-sn-glycerol
  • 1-Tetradecanoyl-3-octadecanoyl-sn-glycerol
  • DAG(14:0/0:0/18:0)
  • DAG(32:0)
  • DG(32:0)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
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:

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 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, PaxDb, MOPED, and MaxQB for RASGRP2 Gene



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.
genes like me logo Genes that share expression patterns with RASGRP2: view

Protein tissue co-expression partners for RASGRP2 Gene

Primer Products

Orthologs for RASGRP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RASGRP2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RASGRP2 35
  • 92 (n)
  • 96.87 (a)
RASGRP2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RASGRP2 35
  • 92.02 (n)
  • 97.85 (a)
RASGRP2 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rasgrp2 35
  • 88.87 (n)
  • 96.38 (a)
Rasgrp2 16
Rasgrp2 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RASGRP2 35
  • 99.51 (n)
  • 99.67 (a)
RASGRP2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rasgrp2 35
  • 88.49 (n)
  • 97.04 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia RASGRP2 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RASGRP2 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101733706 35
  • 63.72 (n)
  • 65.2 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC52798 35
zebrafish
(Danio rerio)
Actinopterygii rasgrp2 35
  • 64.35 (n)
  • 60.85 (a)
rasgrp2 36
  • 60 (a)
OneToMany
RASGRP2 (2 of 2) 36
  • 64 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F25B3.3 37
  • 34 (a)
rgef-1 36
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToMany
Species with no ortholog for RASGRP2:
  • 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)

Paralogs for RASGRP2 Gene

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 Sequence Context AA Info Type
rs2301562 - 64,730,129(+) TGCGC(C/G)CCCCC reference, missense
VAR_071474 Bleeding disorder, platelet-type 18 (BDPLT18)
rs533515 -- 64,729,717(-) TTTTT(G/T)TTTGT intron-variant
rs534221 -- 64,729,689(+) CAAAA(C/T)AGTAA intron-variant
rs536017 -- 64,736,288(+) GCTAA(G/T)AATCC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv897694 CNV Loss 21882294
nsv818842 CNV Gain 17921354
nsv528506 CNV Loss 19592680
dgv1171n71 CNV Loss 21882294
dgv1172n71 CNV Loss 21882294
nsv359 CNV Loss 18451855
dgv153n27 CNV Loss 19166990
nsv832189 CNV Loss 17160897
nsv825946 CNV Gain 20364138
nsv897701 CNV Loss 21882294

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)

Relevant External Links for RASGRP2 Gene

Human Gene Mutation Database (HGMD)
RASGRP2

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

Disorders for RASGRP2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
bleeding disorder, platelet-type, 18
  • bleeding disorder, platelet-type 18
bleeding disorder due to caldag-gefi deficiency
  • bleeding disorder due to calcium- and dag-regulated guanine exchange factor-1 deficiency
leukocyte adhesion deficiency
  • leukocyte adhesion deficiency, type iii
leukocyte adhesion deficiency, type iii
  • leukocyte adhesion deficiency, type 3
stormorken syndrome
  • thrombocytopathy, asplenia and miosis
- 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RASGRP2

Genetic Association Database (GAD)
RASGRP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. A Rap guanine nucleotide exchange factor enriched highly in the basal ganglia. (PMID: 9789079) Kawasaki H. … Graybiel A.M. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 67
  2. A CalDAG-GEFI/Rap1/B-Raf cassette couples M(1) muscarinic acetylcholine receptors to the activation of ERK1/2. (PMID: 11292831) Guo F.F. … Saffen D. (J. Biol. Chem. 2001) 3 23
  3. Characterization of RasGRP2, a plasma membrane-targeted, dual specificity Ras/Rap exchange factor. (PMID: 10918068) Clyde-Smith J. … Hancock J.F. (J. Biol. Chem. 2000) 3 23
  4. Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding. (PMID: 24958846) Canault M. … Tregouet D.A. (J. Exp. Med. 2014) 3
  5. Rasgrp2 regulates the permissiveness of NIH3T3 cells to a herpes simplex virus 1 mutant with inactivated ICP34.5 gene. (PMID: 23530823) Xiao W. … Qi Y. (Acta Virol. 2013) 3

Products for RASGRP2 Gene

Sources for RASGRP2 Gene