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Entry version 148 (16 Oct 2019)
Sequence version 1 (05 Jul 2004)
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Protein

RAS guanyl-releasing protein 2

Gene

RASGRP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.6 Publications

Caution

Defects in RASGRP2 were initially thought (PubMed:17576779) to be the cause of leukocyte adhesion deficiency type 3 (LAD3), a syndrome characterized by recurrent bacterial infections and major bleeding disorders. However, it was later shown (PubMed:19064721, PubMed:19234463 and PubMed:19234460) that it is not the case and that LAD3 is caused by defects in FERMT3 gene.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Isoform 1 and isoform 2 are differently regulated by calcium and DAG.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) of the calcium-binding region(s) within the protein. One common calcium-binding motif is the EF-hand, but other calcium-binding motifs also exist.<p><a href='/help/ca_bind' target='_top'>More...</a></p>Calcium bindingi439 – 4501PROSITE-ProRule annotation1 PublicationAdd BLAST12
Calcium bindingi468 – 4792PROSITE-ProRule annotation1 PublicationAdd BLAST12
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri498 – 548Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd BLAST51

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGuanine-nucleotide releasing factor
LigandCalcium, Metal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-114508 Effects of PIP2 hydrolysis
R-HSA-2871837 FCERI mediated NF-kB activation
R-HSA-354192 Integrin alphaIIb beta3 signaling
R-HSA-392517 Rap1 signalling

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
RAS guanyl-releasing protein 2
Alternative name(s):
Calcium and DAG-regulated guanine nucleotide exchange factor I
Short name:
CalDAG-GEFI
Cdc25-like protein
Short name:
hCDC25L
F25B3.3 kinase-like protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RASGRP2
Synonyms:CDC25L, MCG7
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:9879 RASGRP2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
605577 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q7LDG7

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Cytoplasm, Membrane, Synapse, Synaptosome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Bleeding disorder, platelet-type 18 (BDPLT18)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_079614113 – 609Missing in BDPLT18. 1 PublicationAdd BLAST497
Natural variantiVAR_079615236 – 609Missing in BDPLT18; lack of mutant protein in platelets from a patient homozygous for the mutation. 1 PublicationAdd BLAST374
Natural variantiVAR_071474248G → W in BDPLT18; prevents Rap1 activation upon calcium stimulation; reduces platelet adhesion and spreading. 1 PublicationCorresponds to variant dbSNP:rs587777529EnsemblClinVar.1
Natural variantiVAR_079616296C → Y in BDPLT18; lack of mutant protein in platelets from a patient homozygous for the mutation. 1 Publication1
Natural variantiVAR_079617305G → D in BDPLT18. 1 Publication1
Natural variantiVAR_079618381S → F in BDPLT18; loss of guanyl-nucleotide exchange factor activity. 1 PublicationCorresponds to variant dbSNP:rs767965347Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
10235

MalaCards human disease database

More...
MalaCardsi
RASGRP2
MIMi615888 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000068831

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
420566 Bleeding disorder due to CalDAG-GEFI deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA34241

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q7LDG7

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RASGRP2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74713056

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003156081 – 609RAS guanyl-releasing protein 2Add BLAST609
Isoform 2 (identifier: Q7LDG7-2)
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei116PhosphoserineBy similarity1
Modified residuei117PhosphoserineBy similarity1
Modified residuei147PhosphoserineBy similarity1
Modified residuei554PhosphoserineBy similarity1
Modified residuei576PhosphoserineBy similarity1
Isoform 2 (identifier: Q7LDG7-2)
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi2N-myristoyl glycine1 Publication1
Lipidationi7S-palmitoyl cysteine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Isoform 2 is palmitoylated and myristoylated.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q7LDG7

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q7LDG7

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q7LDG7

MaxQB - The MaxQuant DataBase

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MaxQBi
Q7LDG7

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q7LDG7

PeptideAtlas

More...
PeptideAtlasi
Q7LDG7

PRoteomics IDEntifications database

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PRIDEi
Q7LDG7

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
68852 [Q7LDG7-1]
68853 [Q7LDG7-2]
68854 [Q7LDG7-3]
899

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q7LDG7

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q7LDG7

SwissPalm database of S-palmitoylation events

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SwissPalmi
Q7LDG7

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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.5 Publications

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed in fetal brain, lung, liver and kidney.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000068831 Expressed in 208 organ(s), highest expression level in blood

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q7LDG7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q7LDG7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA015667

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Forms a signaling complex with RAP1 and BRAF (By similarity).

Interacts with RAP1.

Interacts with F-actin.

By similarity2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115529, 3 interactors

Protein interaction database and analysis system

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IntActi
Q7LDG7, 3 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000338864

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1609
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q7LDG7

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini4 – 126N-terminal Ras-GEFPROSITE-ProRule annotationAdd BLAST123
Domaini154 – 387Ras-GEFPROSITE-ProRule annotationAdd BLAST234
Domaini426 – 461EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini455 – 490EF-hand 2PROSITE-ProRule annotationAdd BLAST36

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The N-terminal Ras-GEF domain mediates association with F-actin.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the RASGRP family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri498 – 548Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd BLAST51

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3417 Eukaryota
ENOG410XR96 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160483

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000293171

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q7LDG7

KEGG Orthology (KO)

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KOi
K12361

Identification of Orthologs from Complete Genome Data

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OMAi
RICHLVK

Database of Orthologous Groups

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OrthoDBi
355412at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q7LDG7

TreeFam database of animal gene trees

More...
TreeFami
TF312918

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00029 C1, 1 hit
cd00051 EFh, 1 hit
cd00155 RasGEF, 1 hit
cd06224 REM, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.840.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
IPR002219 PE/DAG-bd
IPR008937 Ras-like_GEF
IPR000651 Ras-like_Gua-exchang_fac_N
IPR023578 Ras_GEF_dom_sf
IPR001895 RASGEF_cat_dom
IPR036964 RASGEF_cat_dom_sf

The PANTHER Classification System

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PANTHERi
PTHR23113 PTHR23113, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00130 C1_1, 1 hit
PF13499 EF-hand_7, 1 hit
PF00617 RasGEF, 1 hit
PF00618 RasGEF_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00109 C1, 1 hit
SM00054 EFh, 2 hits
SM00147 RasGEF, 1 hit
SM00229 RasGEFN, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47473 SSF47473, 1 hit
SSF48366 SSF48366, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00018 EF_HAND_1, 2 hits
PS50222 EF_HAND_2, 2 hits
PS50009 RASGEF_CAT, 1 hit
PS50212 RASGEF_NTER, 1 hit
PS00479 ZF_DAG_PE_1, 1 hit
PS50081 ZF_DAG_PE_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7LDG7-1) [UniParc]FASTAAdd to basket
Also known as: CalDAG-GEFI, CalDAG-GEFIa

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAGTLDLDKG CTVEELLRGC IEAFDDSGKV RDPQLVRMFL MMHPWYIPSS
60 70 80 90 100
QLAAKLLHIY QQSRKDNSNS LQVKTCHLVR YWISAFPAEF DLNPELAEQI
110 120 130 140 150
KELKALLDQE GNRRHSSLID IDSVPTYKWK RQVTQRNPVG QKKRKMSLLF
160 170 180 190 200
DHLEPMELAE HLTYLEYRSF CKILFQDYHS FVTHGCTVDN PVLERFISLF
210 220 230 240 250
NSVSQWVQLM ILSKPTAPQR ALVITHFVHV AEKLLQLQNF NTLMAVVGGL
260 270 280 290 300
SHSSISRLKE THSHVSPETI KLWEGLTELV TATGNYGNYR RRLAACVGFR
310 320 330 340 350
FPILGVHLKD LVALQLALPD WLDPARTRLN GAKMKQLFSI LEELAMVTSL
360 370 380 390 400
RPPVQANPDL LSLLTVSLDQ YQTEDELYQL SLQREPRSKS SPTSPTSCTP
410 420 430 440 450
PPRPPVLEEW TSAAKPKLDQ ALVVEHIEKM VESVFRNFDV DGDGHISQEE
460 470 480 490 500
FQIIRGNFPY LSAFGDLDQN QDGCISREEM VSYFLRSSSV LGGRMGFVHN
510 520 530 540 550
FQESNSLRPV ACRHCKALIL GIYKQGLKCR ACGVNCHKQC KDRLSVECRR
560 570 580 590 600
RAQSVSLEGS APSPSPMHSH HHRAFSFSLP RPGRRGSRPP EIREEEVQTV

EDGVFDIHL
Length:609
Mass (Da):69,248
Last modified:July 5, 2004 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8B1321F864D24BC7
GO
Isoform 2 (identifier: Q7LDG7-2) [UniParc]FASTAAdd to basket
Also known as: RasGRP2

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGTQRLCGRGTQGWPGSSEQHVQEATSSAGLHSGVDELGVRSEPGGRLPERSLGPAHPAPAAM

Show »
Length:671
Mass (Da):75,547
Checksum:i67B7BD2B4F4AED4D
GO
Isoform 3 (identifier: Q7LDG7-3) [UniParc]FASTAAdd to basket
Also known as: CalDAG-GEFIb

The sequence of this isoform differs from the canonical sequence as follows:
     125-125: P → CVGAEHRGLGGHSVSYTICA
     126-609: Missing.

Note: The corresponding protein is not undetectable.
Show »
Length:144
Mass (Da):16,203
Checksum:i23E5F426383B4F9A
GO
Isoform 4 (identifier: Q7LDG7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     590-590: P → PA

Note: No experimental confirmation available.
Show »
Length:610
Mass (Da):69,320
Checksum:i612917B4711357F9
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EM78E7EM78_HUMAN
RAS guanyl-releasing protein 2
RASGRP2
232Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A6NJ28A6NJ28_HUMAN
RAS guanyl-releasing protein 2
RASGRP2
148Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EWQ7E7EWQ7_HUMAN
RAS guanyl-releasing protein 2
RASGRP2
126Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EMB4E7EMB4_HUMAN
RAS guanyl-releasing protein 2
RASGRP2
125Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A6NHE2A6NHE2_HUMAN
RAS guanyl-releasing protein 2
RASGRP2
97Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JZ82C9JZ82_HUMAN
RAS guanyl-releasing protein 2
RASGRP2
83Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A8MVK8A8MVK8_HUMAN
RAS guanyl-releasing protein 2
RASGRP2
63Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A8MTF9A8MTF9_HUMAN
RAS guanyl-releasing protein 2
RASGRP2
66Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JKH6C9JKH6_HUMAN
RAS guanyl-releasing protein 2
RASGRP2
13Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079614113 – 609Missing in BDPLT18. 1 PublicationAdd BLAST497
Natural variantiVAR_079615236 – 609Missing in BDPLT18; lack of mutant protein in platelets from a patient homozygous for the mutation. 1 PublicationAdd BLAST374
Natural variantiVAR_071474248G → W in BDPLT18; prevents Rap1 activation upon calcium stimulation; reduces platelet adhesion and spreading. 1 PublicationCorresponds to variant dbSNP:rs587777529EnsemblClinVar.1
Natural variantiVAR_079616296C → Y in BDPLT18; lack of mutant protein in platelets from a patient homozygous for the mutation. 1 Publication1
Natural variantiVAR_079617305G → D in BDPLT18. 1 Publication1
Natural variantiVAR_079618381S → F in BDPLT18; loss of guanyl-nucleotide exchange factor activity. 1 PublicationCorresponds to variant dbSNP:rs767965347Ensembl.1
Natural variantiVAR_038257493G → A. Corresponds to variant dbSNP:rs2301562Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0305741M → MGTQRLCGRGTQGWPGSSEQ HVQEATSSAGLHSGVDELGV RSEPGGRLPERSLGPAHPAP AAM in isoform 2. 1 Publication1
Alternative sequenceiVSP_030575125P → CVGAEHRGLGGHSVSYTICA in isoform 3. Curated1
Alternative sequenceiVSP_030576126 – 609Missing in isoform 3. CuratedAdd BLAST484
Alternative sequenceiVSP_054132590P → PA in isoform 4. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
Y12336 mRNA Translation: CAA73005.1
AF081194 mRNA Translation: AAC79698.1
U78170 mRNA Translation: AAD12741.1
AF043722 mRNA Translation: AAF07219.1
AF043723 mRNA Translation: AAF07220.1
AK092882 mRNA Translation: BAG52620.1
AP001462 Genomic DNA No translation available.
CH471076 Genomic DNA Translation: EAW74281.1
BC117151 mRNA Translation: AAI17152.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS31598.1 [Q7LDG7-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001092140.1, NM_001098670.1 [Q7LDG7-1]
NP_001092141.1, NM_001098671.1 [Q7LDG7-1]
NP_001305327.1, NM_001318398.1
NP_722541.1, NM_153819.1 [Q7LDG7-1]
XP_011543022.1, XM_011544720.1 [Q7LDG7-4]
XP_011543023.1, XM_011544721.1 [Q7LDG7-4]
XP_011543024.1, XM_011544722.1 [Q7LDG7-4]
XP_011543025.1, XM_011544723.2 [Q7LDG7-4]
XP_016872573.1, XM_017017084.1 [Q7LDG7-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000354024; ENSP00000338864; ENSG00000068831 [Q7LDG7-1]
ENST00000377494; ENSP00000366714; ENSG00000068831 [Q7LDG7-4]
ENST00000377497; ENSP00000366717; ENSG00000068831 [Q7LDG7-1]
ENST00000394432; ENSP00000377953; ENSG00000068831 [Q7LDG7-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
10235

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:10235

UCSC genome browser

More...
UCSCi
uc001oau.4 human [Q7LDG7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

RASGRP2base

RASGRP2 mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y12336 mRNA Translation: CAA73005.1
AF081194 mRNA Translation: AAC79698.1
U78170 mRNA Translation: AAD12741.1
AF043722 mRNA Translation: AAF07219.1
AF043723 mRNA Translation: AAF07220.1
AK092882 mRNA Translation: BAG52620.1
AP001462 Genomic DNA No translation available.
CH471076 Genomic DNA Translation: EAW74281.1
BC117151 mRNA Translation: AAI17152.1
CCDSiCCDS31598.1 [Q7LDG7-1]
RefSeqiNP_001092140.1, NM_001098670.1 [Q7LDG7-1]
NP_001092141.1, NM_001098671.1 [Q7LDG7-1]
NP_001305327.1, NM_001318398.1
NP_722541.1, NM_153819.1 [Q7LDG7-1]
XP_011543022.1, XM_011544720.1 [Q7LDG7-4]
XP_011543023.1, XM_011544721.1 [Q7LDG7-4]
XP_011543024.1, XM_011544722.1 [Q7LDG7-4]
XP_011543025.1, XM_011544723.2 [Q7LDG7-4]
XP_016872573.1, XM_017017084.1 [Q7LDG7-4]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2MA2NMR-A417-497[»]
6AXFX-ray3.10A/C/E/G/I/K/M/O1-394[»]
SMRiQ7LDG7
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi115529, 3 interactors
IntActiQ7LDG7, 3 interactors
STRINGi9606.ENSP00000338864

PTM databases

iPTMnetiQ7LDG7
PhosphoSitePlusiQ7LDG7
SwissPalmiQ7LDG7

Polymorphism and mutation databases

BioMutaiRASGRP2
DMDMi74713056

Proteomic databases

EPDiQ7LDG7
jPOSTiQ7LDG7
MassIVEiQ7LDG7
MaxQBiQ7LDG7
PaxDbiQ7LDG7
PeptideAtlasiQ7LDG7
PRIDEiQ7LDG7
ProteomicsDBi68852 [Q7LDG7-1]
68853 [Q7LDG7-2]
68854 [Q7LDG7-3]
899

Genome annotation databases

EnsembliENST00000354024; ENSP00000338864; ENSG00000068831 [Q7LDG7-1]
ENST00000377494; ENSP00000366714; ENSG00000068831 [Q7LDG7-4]
ENST00000377497; ENSP00000366717; ENSG00000068831 [Q7LDG7-1]
ENST00000394432; ENSP00000377953; ENSG00000068831 [Q7LDG7-1]
GeneIDi10235
KEGGihsa:10235
UCSCiuc001oau.4 human [Q7LDG7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
10235
DisGeNETi10235

GeneCards: human genes, protein and diseases

More...
GeneCardsi
RASGRP2
HGNCiHGNC:9879 RASGRP2
HPAiHPA015667
MalaCardsiRASGRP2
MIMi605577 gene
615888 phenotype
neXtProtiNX_Q7LDG7
OpenTargetsiENSG00000068831
Orphaneti420566 Bleeding disorder due to CalDAG-GEFI deficiency
PharmGKBiPA34241

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3417 Eukaryota
ENOG410XR96 LUCA
GeneTreeiENSGT00940000160483
HOGENOMiHOG000293171
InParanoidiQ7LDG7
KOiK12361
OMAiRICHLVK
OrthoDBi355412at2759
PhylomeDBiQ7LDG7
TreeFamiTF312918

Enzyme and pathway databases

ReactomeiR-HSA-114508 Effects of PIP2 hydrolysis
R-HSA-2871837 FCERI mediated NF-kB activation
R-HSA-354192 Integrin alphaIIb beta3 signaling
R-HSA-392517 Rap1 signalling

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
RASGRP2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
10235
PharosiQ7LDG7

Protein Ontology

More...
PROi
PR:Q7LDG7

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000068831 Expressed in 208 organ(s), highest expression level in blood
ExpressionAtlasiQ7LDG7 baseline and differential
GenevisibleiQ7LDG7 HS

Family and domain databases

CDDicd00029 C1, 1 hit
cd00051 EFh, 1 hit
cd00155 RasGEF, 1 hit
cd06224 REM, 1 hit
Gene3Di1.10.840.10, 1 hit
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
IPR002219 PE/DAG-bd
IPR008937 Ras-like_GEF
IPR000651 Ras-like_Gua-exchang_fac_N
IPR023578 Ras_GEF_dom_sf
IPR001895 RASGEF_cat_dom
IPR036964 RASGEF_cat_dom_sf
PANTHERiPTHR23113 PTHR23113, 1 hit
PfamiView protein in Pfam
PF00130 C1_1, 1 hit
PF13499 EF-hand_7, 1 hit
PF00617 RasGEF, 1 hit
PF00618 RasGEF_N, 1 hit
SMARTiView protein in SMART
SM00109 C1, 1 hit
SM00054 EFh, 2 hits
SM00147 RasGEF, 1 hit
SM00229 RasGEFN, 1 hit
SUPFAMiSSF47473 SSF47473, 1 hit
SSF48366 SSF48366, 1 hit
PROSITEiView protein in PROSITE
PS00018 EF_HAND_1, 2 hits
PS50222 EF_HAND_2, 2 hits
PS50009 RASGEF_CAT, 1 hit
PS50212 RASGEF_NTER, 1 hit
PS00479 ZF_DAG_PE_1, 1 hit
PS50081 ZF_DAG_PE_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGRP2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q7LDG7
Secondary accession number(s): A6NDC7, O00538, Q9UL65
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: July 5, 2004
Last modified: October 16, 2019
This is version 148 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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