GIMAP5
GTPase, IMAP family member 5
Summary
This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. This gene encodes an antiapoptotic protein that functions in T-cell survival. Polymorphisms in this gene are associated with systemic lupus erythematosus. Read-through transcription exists between this gene and the neighboring upstream GIMAP1 (GTPase, IMAP family member 1) gene. [provided by RefSeq, Dec 2010]
Known Variants8 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs547761684 | 7:150,435,385 | G/A | — | — |
| rs1797607693 | 7:150,439,367 | T/C | — | pathogenic |
| rs927435790 | 7:150,439,553 | C/T | — | pathogenic |
| rs2485929272 | 7:150,439,672 | C/G | — | likely benign |
| rs372355155 | 7:150,439,759 | C/T | — | uncertain significance |
| rs2116581086 | 7:150,439,894 | C/T | — | pathogenic |
| rs61751050 | 7:150,440,040 | G/A | — | benign |
| rs6598 | 7:150,440,649 | G/A | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.