IGF2BP3
insulin like growth factor 2 mRNA binding protein 3
Summary
The protein encoded by this gene is primarily found in the nucleolus, where it can bind to the 5' UTR of the insulin-like growth factor II leader 3 mRNA and may repress translation of insulin-like growth factor II during late development. The encoded protein contains several KH domains, which are important in RNA binding and are known to be involved in RNA synthesis and metabolism. A pseudogene exists on chromosome 7, and there are putative pseudogenes on other chromosomes. [provided by RefSeq, Jul 2008]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs145056288 | 7:23,352,431 | C/T | — | uncertain significance |
| rs1200211397 | 7:23,353,142 | G/A | — | uncertain significance |
| rs117151817 | 7:23,358,880 | T/G | — | benign |
| rs138438351 | 7:23,381,693 | G/A | — | uncertain significance |
| rs777472952 | 7:23,381,773 | G/C | — | uncertain significance |
| rs1235431545 | 7:23,383,393 | C/T | — | uncertain significance |
| rs2128502913 | 7:23,385,578 | T/C | — | uncertain significance |
| rs770455230 | 7:23,385,580 | T/C | — | uncertain significance |
| rs1055617075 | 7:23,385,589 | T/C | — | uncertain significance |
| rs2534152999 | 7:23,385,639 | A/C | — | uncertain significance |
| rs772311748 | 7:23,387,264 | T/C | — | uncertain significance |
| rs202212306 | 7:23,387,327 | G/A | — | uncertain significance |
| rs1784863435 | 7:23,387,339 | C/T | — | uncertain significance |
| rs773927629 | 7:23,390,997 | T/C | — | uncertain significance |
| rs765538897 | 7:23,391,045 | C/T | — | uncertain significance |
| rs149743260 | 7:23,391,090 | C/A | — | uncertain significance |
| rs370236925 | 7:23,391,095 | C/T | — | uncertain significance |
| rs375092 | 7:23,420,767 | A/C | regulatory region variant | — |
| rs12700428 | 7:23,436,427 | G/A | — | association |
| rs1028445948 | 7:23,458,411 | G/C | — | uncertain significance |
| rs757666193 | 7:23,458,430 | G/C | — | uncertain significance |
| rs867509588 | 7:23,458,436 | T/G | — | uncertain significance |
| rs13233614 | 7:23,475,386 | G/C | intron variant | — |
| rs11765649 | 7:23,479,013 | T/C | intron variant | — |
| rs11763760 | 7:23,480,467 | C/T | intron variant | — |
| rs6957923 | 7:23,482,685 | G/T | — | — |
| rs12534093 | 7:23,502,974 | T/A | intron variant | — |
| rs771910177 | 7:23,508,135 | T/C | — | uncertain significance |
| rs137919890 | 7:23,509,591 | C/T | — | uncertain significance |
| rs775086521 | 7:23,509,596 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.