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Protein-coding gene in the species Homo sapiens

RASGRP2

RASGRP2
All data from the card 16
Aliases
RASGRP2, CALDAG-GEFI, CDC25L, RAS guanyl releasing protein 2
External IDs
OMIM: 605577; MGI: 1333849; GeneCards: RASGRP2
PDB
Ortholog search: PDBe RCSB
Chr.
Chromosome 11 (human)
Band
11q13.1
End
64,745,456 bp
Bgee
HumanMouse (ortholog)Top expressed ingranulocytespleenmonocyteapex of heartright coronary arterypopliteal arterybloodtibial arterieslymph nodeleft coronary arteryn/aMore reference expression data
BioGPS
More reference expression data
Databases
NCBI: entry; OMA: entry
Species
Human
Entrez
10235
Ensembl
ENSG00000068831
UniProt
Q7LDG7
RefSeq (mRNA)
NM_001098670NM_001098671NM_005825NM_153819NM_001318398
RefSeq (protein)
NP_001092140NP_001092141NP_001305327NP_722541
Location (UCSC)
Chr 11: 64.73 – 64.75 Mb

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

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.

Clinical significance

Mutations in RASGRP2 are associated with severe bleeding.

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Text from Wikipedia, CC BY-SA 4.0 · Source article