RNF130
ring finger protein 130
Summary
The protein encoded by this gene contains a RING finger motif and is similar to g1, a Drosophila zinc-finger protein that is expressed in mesoderm and involved in embryonic development. The expression of the mouse counterpart was found to be upregulated in myeloblastic cells following IL3 deprivation, suggesting that this gene may regulate growth factor withdrawal-induced apoptosis of myeloid precursor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs553917815 | 5:179,357,270 | C/T | — | — |
| rs2480230936 | 5:179,390,537 | C/A | — | uncertain significance |
| rs747833953 | 5:179,393,851 | C/T | — | uncertain significance |
| rs10060093 | 5:179,393,867 | T/C | — | benign |
| rs374670797 | 5:179,393,868 | G/A | — | uncertain significance |
| rs1329491875 | 5:179,393,880 | G/A | — | uncertain significance |
| rs773564198 | 5:179,393,896 | G/C | — | uncertain significance |
| rs889492717 | 5:179,393,914 | C/T | — | likely benign |
| rs1010152390 | 5:179,397,459 | C/T | — | uncertain significance |
| rs17079875 | 5:179,401,542 | G/A | intron variant | — |
| rs373524615 | 5:179,405,222 | C/T | — | uncertain significance |
| rs768776470 | 5:179,405,226 | A/C | — | uncertain significance |
| rs751865376 | 5:179,407,199 | C/T | — | uncertain significance |
| rs373824991 | 5:179,440,074 | C/T | — | uncertain significance |
| rs144411577 | 5:179,440,194 | G/A | — | uncertain significance |
| rs759497080 | 5:179,467,519 | T/C | — | uncertain significance |
| rs201925862 | 5:179,467,533 | C/T | — | uncertain significance |
| rs777836624 | 5:179,467,606 | C/T | — | uncertain significance |
| rs13161895 | 5:179,471,201 | C/T | intron variant | — |
| rs979161883 | 5:179,498,461 | T/C | — | uncertain significance |
| rs943909696 | 5:179,498,545 | G/C | — | uncertain significance |
| rs779255046 | 5:179,498,626 | C/T | — | uncertain significance |
| rs779943315 | 5:179,498,634 | C/G | — | uncertain significance |
| rs1361593114 | 5:179,498,657 | C/A | — | uncertain significance |
| rs1765274840 | 5:179,498,662 | G/A | — | uncertain significance |
| rs762554894 | 5:179,498,669 | G/T | — | uncertain significance |
| rs969546654 | 5:179,498,678 | G/A | — | uncertain significance |
| rs1296721112 | 5:179,498,695 | C/T | — | uncertain significance |
| rs141339319 | 5:179,499,103 | T/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.