RASGRP2
RAS guanyl releasing protein 2 (calcium and DAG-regulated)
Gene Information Card
| Symbol | RASGRP2 |
|---|---|
| Full Name | RAS guanyl releasing protein 2 (calcium and DAG-regulated) |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 10235 ncbi.nlm.nih.gov/gene/10235 |
| Ensembl ID | ENSG00000110395 |
| UniProt ID | Q7LDG7 |
| OMIM ID | 605577 |
| HGNC ID | 9879 |
| Aliases | CalDAG-GEFI, CDC25L, RASGRP2a, RASGRP2b |
Description
RASGRP2 encodes a member of the Ras guanine nucleotide exchange factor (RasGEF) family. The protein, also known as CalDAG-GEFI, is activated by calcium and diacylglycerol and specifically activates Rap1 and Ras subfamily GTPases. It plays a critical role in platelet aggregation, integrin activation, and immune cell signaling. Mutations in RASGRP2 cause a bleeding disorder characterized by impaired platelet function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Platelet-type bleeding disorder 18 (BDPLT18) | Loss-of-function mutations impair Rap1 activation, leading to defective integrin αIIbβ3 activation and platelet aggregation. | ClinVar, OMIM |
| Hemorrhagic disorder due to defective platelet activation | Homozygous or compound heterozygous mutations in RASGRP2 result in reduced CalDAG-GEFI expression and impaired platelet signaling. | OMIM #615888 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 12.3 | Medium |
| Spleen | 8.7 | Medium |
| Bone marrow | 6.5 | Low |
| Lung | 3.2 | Low |
| Brain | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.5 | Low expression |
| K562 | 15.2 | High expression (erythroleukemia) |
| Jurkat | 22.1 | High expression (T-cell leukemia) |
| THP-1 | 18.4 | High expression (monocytic leukemia) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.742C>T (p.Arg248*) | Nonsense | Rare | Premature stop codon; loss of function |
| c.1135G>A (p.Gly379Arg) | Missense | Rare | Impaired Rap1 activation |
| c.1666C>T (p.Arg556Trp) | Missense | Rare | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish Rap1 GEF activity, leading to defective platelet aggregation.
Gain of Function (GOF)
Not reported in RASGRP2.
Dominant Negative (DN)
Not reported in RASGRP2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Rap1 signaling pathway (Reactome: R-HSA-392517)
• Platelet activation
• signaling and aggregation (Reactome: R-HSA-76002)
• GPVI-mediated activation cascade (Reactome: R-HSA-114604)
Protein Summary
RASGRP2 (CalDAG-GEFI) is a 609-amino acid protein containing a RasGEF domain, a C1 domain (diacylglycerol-binding), and two EF-hand motifs (calcium-binding). It localizes to the plasma membrane and cytosol. Upon calcium and DAG signaling, it activates Rap1, a key regulator of integrin-mediated adhesion in platelets and leukocytes. Defects in this protein cause a mild to moderate bleeding disorder.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RASGRP2 Knockout HEK293 Cell Line | EDJ-KQ230 | Human | 10235 | Details Get a Quote |
| RASGRP2 Knockout A-549 Cell Line | EDJ-KQ19397 | Human | 10235 | Details Get a Quote |
| RASGRP2 Knockout HCT 116 Cell Line | EDJ-KQ19399 | Human | 10235 | Details Get a Quote |
| RASGRP2 Knockout HeLa Cell Line | EDJ-KQ55353 | Human | 10235 | Details Get a Quote |
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