RASGRP1 RAS guanyl releasing protein 1
Gene ID: 10125, updated on 11-Apr-2024Gene type: protein coding
Also known as: IMD64; RASGRP; CALDAG-GEFI; CALDAG-GEFII
- See all available tests in GTR for this gene
- Go to complete Gene record for RASGRP1
- Go to Variation Viewer for RASGRP1 variants
Summary
This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. It activates the Erk/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript variants encoding different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans. GeneReviews: Not available | |
| Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. GeneReviews: Not available | |
| Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes. GeneReviews: Not available | |
| Genetics of rheumatoid arthritis contributes to biology and drug discovery. GeneReviews: Not available | |
| Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. GeneReviews: Not available | |
| Genome-wide association study of atypical psychosis. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
| Immunodeficiency 64 | See labs |
Genomic context
- Location:
- 15q14
- Sequence:
- Chromosome: 15; NC_000015.10 (38488103..38564814, complement)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RASGRP1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RASGRP1 database
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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