RASGRP2 Chromosome 11
RAS guanyl releasing protein 2
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What This Gene Does
The protein encoded by this gene is a brain-enriched nucleotide exchanged 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. Four alternatively spliced transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
"EF-hand domain containing|RAS guanyl releasing proteins"
Locus Type
gene with protein product
Location
11q13.1
Ensembl
ENSG00000068831
Associated Conditions (4)
Platelet-type bleeding disorder 18
RASGRP2-related disorder
Abnormal platelet aggregation
Abnormal bleeding
Key Variants
RS1060499609
Conflicting classifications of pathogenicity
Platelet-type bleeding disorder 18, Platelet-type bleeding disorder 18
Health Risk
RS141842144
Conflicting classifications of pathogenicity
Health Risk
RS144800583
Conflicting classifications of pathogenicity
Health Risk
RS181901181
Conflicting classifications of pathogenicity
RASGRP2-related disorder, RASGRP2-related disorder
Health Risk
RS200768691
Conflicting classifications of pathogenicity
Health Risk
RS372060305
Conflicting classifications of pathogenicity
Health Risk
RS374163992
Conflicting classifications of pathogenicity
Health Risk
RS780634022
Conflicting classifications of pathogenicity
Health Risk
RS112380141
Likely pathogenic
Health Risk
RS1555122100
Likely pathogenic
Platelet-type bleeding disorder 18, Platelet-type bleeding disorder 18
Health Risk
RS1592371840
Likely pathogenic
Abnormal platelet aggregation, Abnormal bleeding, Platelet-type bleeding disorder 18
Health Risk
RS1592372097
Likely pathogenic
Abnormal platelet aggregation, Abnormal platelet aggregation
Health Risk
All Variants (33)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1060499609 | Health Risk | Conflicting classifications of pathogenicity | Platelet-type bleeding disorder 18, Platelet-type bleeding disorder 18 |
| RS141842144 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144800583 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS181901181 | Health Risk | Conflicting classifications of pathogenicity | RASGRP2-related disorder, RASGRP2-related disorder |
| RS200768691 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372060305 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374163992 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780634022 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS112380141 | Health Risk | Likely pathogenic | — |
| RS1555122100 | Health Risk | Likely pathogenic | Platelet-type bleeding disorder 18, Platelet-type bleeding disorder 18 |
| RS1592371840 | Health Risk | Likely pathogenic | Abnormal platelet aggregation, Abnormal bleeding, Platelet-type bleeding disorder 18 |
| RS1592372097 | Health Risk | Likely pathogenic | Abnormal platelet aggregation, Abnormal platelet aggregation |
| RS1592372480 | Health Risk | Likely pathogenic | Abnormal platelet aggregation, Abnormal platelet aggregation |
| RS1592378730 | Health Risk | Likely pathogenic | Abnormal platelet aggregation, Abnormal platelet aggregation |
| RS1592379014 | Health Risk | Likely pathogenic | Abnormal platelet aggregation, Abnormal platelet aggregation |
| RS200434813 | Health Risk | Likely pathogenic | Platelet-type bleeding disorder 18, Platelet-type bleeding disorder 18 |
| RS2135765010 | Health Risk | Likely pathogenic | Platelet-type bleeding disorder 18, Platelet-type bleeding disorder 18 |
| RS2496490002 | Health Risk | Likely pathogenic | RASGRP2-related disorder, RASGRP2-related disorder |
| RS2496576349 | Health Risk | Likely pathogenic | — |
| RS2959650 | Health Risk | Likely pathogenic | Abnormal platelet aggregation, Abnormal platelet aggregation |
| RS374345558 | Health Risk | Likely pathogenic | Abnormal platelet aggregation, Abnormal platelet aggregation |
| RS587777529 | Health Risk | Likely pathogenic | Platelet-type bleeding disorder 18, Platelet-type bleeding disorder 18, Platelet-type bleeding disorder 18 |
| RS781003927 | Health Risk | Likely pathogenic | Abnormal platelet aggregation, Abnormal platelet aggregation |
| RS1565519601 | Health Risk | Pathogenic | — |
| RS1592384832 | Health Risk | Pathogenic | Platelet-type bleeding disorder 18, Platelet-type bleeding disorder 18 |
| RS2135780423 | Health Risk | Pathogenic | Platelet-type bleeding disorder 18, Platelet-type bleeding disorder 18 |
| RS2496499928 | Health Risk | Pathogenic | — |
| RS2496515487 | Health Risk | Pathogenic | — |
| RS2496571415 | Health Risk | Pathogenic | — |
| RS764301648 | Health Risk | Pathogenic | — |
| RS767965347 | Health Risk | Pathogenic | Platelet-type bleeding disorder 18, Platelet-type bleeding disorder 18 |
| RS774996406 | Health Risk | Pathogenic | Platelet-type bleeding disorder 18, Platelet-type bleeding disorder 18 |
| RS752492512 | Health Risk | Pathogenic/Likely pathogenic | Abnormal platelet aggregation, Platelet-type bleeding disorder 18, RASGRP2-related disorder |