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 calci... See more...

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
  • RAS Guanyl-Releasing Protein 2 3 4
  • F25B3.3 Kinase-Like Protein 3 4
  • Cdc25-Like Protein 3 4
  • CALDAG-GEFI 2 3
  • 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
  • CalDAG-GEFI 4
  • RASGRP2 5
  • HCDC25L 4
  • MCG7 4

External Ids for RASGRP2 Gene

Previous GeneCards Identifiers for RASGRP2 Gene

  • GC11M067010
  • GC11M066175
  • GC11M064744
  • 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 Ras signaling pathway and Signaling by GPCR. 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 Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RASGRP2 Gene

Genomics for RASGRP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH11J064741 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 257.8 +1.0 1033 6.1 EZH2 SP1 NCOR1 ZNF654 MYC IKZF1 ZNF600 CEBPA ZSCAN16 POLR2A RASGRP2 lnc-PYGM-1 PCNX3 POLA2 ZFPL1 ENSG00000257086 FRMD8 SF1 KAT5 PLCB3
GH11J064776 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12 -33.4 -33434 5 BCLAF1 SP1 NCOR1 MYC IKZF1 SIX5 JUND ZNF592 ATF2 POLR2A SF1 ENSG00000269038 HSALNG0084817 lnc-MAP4K2-3 SYVN1 NEAT1 POLA2 PLCB3 ZFPL1 RELA
GH11J064722 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.4 +20.9 20917 3.9 EZH2 SP1 ZNF654 CEBPA ZIC2 ZBTB10 CTCF REST TRIM22 MBD2 HSALNG0084808 NRXN2 MEN1 RASGRP2 MN309263
GH11J064766 Enhancer 0.9 ENCODE dbSUPER 12.5 -22.1 -22147 2.6 SSRP1 POLR2A CTCF REST SIN3A SMC3 RBM22 RAD21 MYNN SUPT5H lnc-PYGM-2 RASGRP2 MEN1 PYGM lnc-PPP2R5B-6 SF1
GH11J064798 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 5 -56.3 -56283 6 ZNF600 IKZF1 ZNF592 ZMYM3 ZIC2 NFIC MXD4 CTCF SIN3A DEK MAP4K2 NONHSAG008628.2 ENSG00000269038 RASGRP2 MN309264 MEN1 lnc-SF1-2 SF1
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RASGRP2

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

Genomic Locations for RASGRP2 Gene

Latest Assembly
chr11:64,726,911-64,745,481
(GRCh38/hg38)
Size:
18,571 bases
Orientation:
Minus strand

Previous Assembly
chr11:64,494,383-64,512,928
(GRCh37/hg19 by Entrez Gene)
Size:
18,546 bases
Orientation:
Minus strand

chr11:64,494,383-64,512,928
(GRCh37/hg19 by Ensembl)
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.
    Miscellaneous:
    • [Isoform 3]: The corresponding protein is not undetectable.

    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

Protein Domains for RASGRP2 Gene

Suggested Antigen Peptide Sequences for RASGRP2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ35563 fis, clone SPLEN2005342, highly similar to Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 2, mRNA (A6NDC7_HUMAN)
  • F25B3.3 kinase-like protein (GRP2_HUMAN)
  • RASGRP2 protein (Q2YDB1_HUMAN)

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 Models for research

  • Taconic Biosciences Mouse Models for RASGRP2

miRNA for RASGRP2 Gene

miRTarBase miRNAs that target RASGRP2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RASGRP2

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 3
extracellular 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RASGRP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA,IDA 10918068
GO:0016020 membrane IEA --
GO:0030054 cell junction 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

Pathways by source for RASGRP2 Gene

5 GeneGo (Thomson Reuters) pathways for RASGRP2 Gene
  • Development EDNRB signaling
  • G-protein signaling N-RAS regulation pathway
  • G-protein signaling TC21 regulation pathway
  • G-protein signaling_K-RAS regulation pathway
  • G-protein signaling_Rap1A regulation pathway
3 Qiagen pathways for RASGRP2 Gene
  • ITK and TCR Signaling
  • Molecular Mechanisms of Cancer
  • Rap1 Pathway

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
Guanosine triphosphate Experimental Pharma 0
Calcium Nutra 6959

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
DG(16:0/24:0/0:0)
  • 1-Palmitoyl-2-lignoceroyl-sn-glycerol
  • DAG(16:0/24:0)
  • DAG(40:0)
  • DG(16:0/24:0)
  • DG(40:0)
Diglycerides Group A
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (11Z)-icos-11-enoic acid
  • Diacylglycerol(15:0/0:0/20:1)
  • DAG(35:1)
  • Diacylglycerol(35:1)
  • DG(15:0/0:0/20:1W9)
Diglycerides Group B
  • Diglyceride
  • DG(32:4)
  • DG(14:1/18:3)
  • DAG(14:1/18:3)
  • Diacylglycerol(32:4)
257891-89-7
Diglycerides Group C
  • (2S)-1-Hydroxy-3-(palmitoyloxy)propan-2-yl (5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate
  • 1,2-DG 16:0/20:4(omega-6)
  • 1-Hexadecanoyl-2-(5Z,8Z,11Z,14Z)-icosatetraenoyl-sn-glycerol
  • 1-Hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol
  • DAG(16:0/20:4)
91125-76-7, 29541-66-0, 51621-26-2
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

mRNA/cDNA for RASGRP2 Gene

5 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RASGRP2

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

Expression for RASGRP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.7)
  • Spleen(4.5)
  • Blood(3)
  • Bone marrow(2.5)
  • Lymph node(2.5)
  • Intestine(2.2)

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

Primer products for research

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 29 30
  • 99.51 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RASGRP2 29 30
  • 92.02 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RASGRP2 29 30
  • 92 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rasgrp2 29 16 30
  • 88.87 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rasgrp2 29
  • 88.49 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia RASGRP2 30
  • 85 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RASGRP2 30
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC101733706 29
  • 63.72 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC52798 29
Zebrafish
(Danio rerio)
Actinopterygii rasgrp2 29 30
  • 64.35 (n)
OneToMany
RASGRP2 (2 of 2) 30
  • 64 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea F25B3.3 31
  • 34 (a)
rgef-1 30
  • 31 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 38 (a)
OneToMany
Species where no ortholog for RASGRP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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
Alliance of Genome Resources:
Additional Orthologs for RASGRP2

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RASGRP2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
988845 Uncertain Significance: Thrombocytopenia; Abnormal bleeding 64,735,917(-) G/A
NM_001098671.2(RASGRP2):c.1159C>T (p.Arg387Cys)
MISSENSE
988880 Uncertain Significance: Thrombocytopenia; Abnormal bleeding 64,741,038(-) G/A
NM_001098671.2(RASGRP2):c.281C>T (p.Pro94Leu)
MISSENSE_VARIANT,FIVE_PRIME_UTR
rs1060499609 Conflicting Interpretations: Platelet-type bleeding disorder 18 64,739,790(-) A/G
NM_001098671.2(RASGRP2):c.542T>C (p.Phe181Ser)
MISSENSE
rs1060499893 Likely Benign: not specified 64,742,105(-) G/A
NM_001098671.2(RASGRP2):c.81C>T (p.Ser27=)
SYNONYMOUS_VARIANT,INTRON
rs10897524 Benign: not specified 64,735,891(-) G/A
NM_001098671.2(RASGRP2):c.1173+12C>T
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RASGRP2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
RASGRP2

SNP Genotyping and Copy Number Assays for research

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

Disorders for RASGRP2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for RASGRP2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 variants 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. 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 72
  2. 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
  3. 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
  4. 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
  5. Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction. (PMID: 27235135) Lozano ML … Rivera J (Blood 2016) 3 4

Products for RASGRP2 Gene