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RASGRP2

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

RASGRP2

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

Quick Facts Available structures, PDB ...
RASGRP2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesRASGRP2, CALDAG-GEFI, CDC25L, RAS guanyl releasing protein 2
External IDsOMIM: 605577; MGI: 1333849; HomoloGene: 4250; GeneCards: RASGRP2; OMA:RASGRP2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 Mbn/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]

References

Further reading

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