RASGRP2

RAS guanyl-releasing protein 2 is a protein that in humans is encoded by the RASGRP2 gene.^[4][5]

RASGRP2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2MA2
Identifiers
Aliases	RASGRP2, CALDAG-GEFI, CDC25L, RAS guanyl releasing protein 2
External IDs	OMIM: 605577; MGI: 1333849; HomoloGene: 4250; GeneCards: RASGRP2; OMA:RASGRP2 - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q13.1 Start 64,726,911 bp[1] End 64,745,456 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte spleen monocyte apex of heart right coronary artery popliteal artery blood tibial arteries lymph node left coronary artery n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding metal ion binding diacylglycerol binding lipid binding guanyl-nucleotide exchange factor activity Cellular component cytoplasm cytosol cell projection membrane plasma membrane synapse ruffle membrane cell junction neuron projection Biological process cellular response to calcium ion intracellular signal transduction small GTPase mediated signal transduction positive regulation of GTPase activity regulation of cell growth Ras protein signal transduction signal transduction regulation of molecular function Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10235 19395 Ensembl ENSG00000068831 ENSMUSG00000032946 UniProt Q7LDG7 Q9QUG9 RefSeq (mRNA) NM_001098670 NM_001098671 NM_005825 NM_153819 NM_001318398 NM_011242 RefSeq (protein) NP_001092140 NP_001092141 NP_001305327 NP_722541 NP_035372 NP_001351991 NP_001351992 Location (UCSC) Chr 11: 64.73 – 64.75 Mb n/a PubMed search [2] [3]
Wikidata
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The protein encoded by this gene is a brain-enriched nucleotide exchange 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. Two alternatively spliced transcript variants of this gene, encoding distinct isoforms, have been reported.^[5]

Clinical significance

Mutations in RASGRP2 are associated with severe bleeding.^[6]