RASGRP2 (RAS guanyl releasing protein 2)

2006-10-01  

Identity

HGNC
LOCATION
11q13.1
LOCUSID
ALIAS
CALDAG-GEFI,CDC25L

Other Information

Locus ID:

NCBI: 10235
MIM: 605577
HGNC: 9879
Ensembl: ENSG00000068831

Variants:

dbSNP: 10235
ClinVar: 10235
TCGA: ENSG00000068831
COSMIC: RASGRP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000068831ENST00000354024Q7LDG7
ENSG00000068831ENST00000377485A6NHE2
ENSG00000068831ENST00000377486A6NJ28
ENSG00000068831ENST00000377487A6NJ28
ENSG00000068831ENST00000377489A6NJ28
ENSG00000068831ENST00000377494Q7LDG7
ENSG00000068831ENST00000377497Q7LDG7
ENSG00000068831ENST00000394428A8MVK8
ENSG00000068831ENST00000394429A8MTF9
ENSG00000068831ENST00000394430A6NJ28
ENSG00000068831ENST00000394432Q7LDG7
ENSG00000068831ENST00000419843C9JKH6
ENSG00000068831ENST00000421556A8MVK8
ENSG00000068831ENST00000430645C9JZ82
ENSG00000068831ENST00000431822E7EM78
ENSG00000068831ENST00000441258E7EMB4
ENSG00000068831ENST00000445445E7EWQ7

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
MAPK signaling pathwayKEGGko04010
MAPK signaling pathwayKEGGhsa04010
Pathways in cancerKEGGhsa05200
Chemokine signaling pathwayKEGGko04062
Chemokine signaling pathwayKEGGhsa04062
Ras signaling pathwayKEGGhsa04014
Rap1 signaling pathwayKEGGhsa04015
Rap1 signaling pathwayKEGGko04015
Platelet activationKEGGhsa04611
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Rap1 signallingREACTOMER-HSA-392517
Innate Immune SystemREACTOMER-HSA-168249
Fc epsilon receptor (FCERI) signalingREACTOMER-HSA-2454202
FCERI mediated NF-kB activationREACTOMER-HSA-2871837
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Platelet Aggregation (Plug Formation)REACTOMER-HSA-76009
Integrin alphaIIb beta3 signalingREACTOMER-HSA-354192
Effects of PIP2 hydrolysisREACTOMER-HSA-114508
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (q) signalling eventsREACTOMER-HSA-416476
Gastrin-CREB signalling pathway via PKC and MAPKREACTOMER-HSA-881907

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
122393482002Megakaryocytes derived from embryonic stem cells implicate CalDAG-GEFI in integrin signaling.58
249588462014Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding.41
272351352016Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction.20
236116012013Phosphorylation of CalDAG-GEFI by protein kinase A prevents Rap1b activation.18
286376642017Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.14
270220252016Structural Basis for the Failure of the C1 Domain of Ras Guanine Nucleotide Releasing Protein 2 (RasGRP2) to Bind Phorbol Ester with High Affinity.10
287265382018Marked bleeding diathesis in patients with platelet dysfunction due to a novel mutation in RASGRP2, encoding CalDAG-GEFI (p.Gly305Asp).7
206063032010Identification of the gene regulatory region in human rasgrp2 gene in vascular endothelial cells.5
271076972016A negative-feedback loop regulating ERK1/2 activation and mediated by RasGPR2 phosphorylation.5
300761532018Ectopic RASGRP2 (CalDAG-GEFI) expression in rheumatoid synovium contributes to the development of destructive arthritis.5

Citation

Dessen P

RASGRP2 (RAS guanyl releasing protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43456/rasgrp2