IGFBP3
insulin like growth factor binding protein 3
Summary
This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2453839 | 7:45,953,573 | T/G | — | — |
| rs1039075610 | 7:45,954,444 | T/G | — | uncertain significance |
| rs756951692 | 7:45,954,519 | C/T | — | uncertain significance |
| rs3110697 | 7:45,955,029 | A/T | — | — |
| rs6953668 | 7:45,955,875 | G/A | intron variant | — |
| rs2453837 | 7:45,956,050 | G/A | intron variant | — |
| rs35712717 | 7:45,956,197 | C/T | — | benign |
| rs141788305 | 7:45,956,850 | G/C | — | uncertain significance |
| rs150156575 | 7:45,956,860 | G/A | — | benign |
| rs369707352 | 7:45,956,964 | C/G | — | uncertain significance |
| rs9282734 | 7:45,956,969 | T/G | missense variant | — |
| rs149155055 | 7:45,957,046 | C/T | — | benign |
| rs2471551 | 7:45,957,055 | G/C | intron variant | — |
| rs2854747 | 7:45,959,917 | G/A | intron variant | — |
| rs1329955861 | 7:45,960,340 | G/A | — | uncertain significance |
| rs1784675712 | 7:45,960,391 | C/T | — | uncertain significance |
| rs1276869933 | 7:45,960,547 | G/A | — | uncertain significance |
| rs1166618986 | 7:45,960,624 | C/T | — | uncertain significance |
| rs2854746 | 7:45,960,645 | G/A | missense variant | — |
| rs909110022 | 7:45,960,679 | C/A | — | uncertain significance |
| rs1484646049 | 7:45,960,712 | C/A | — | uncertain significance |
| rs751144891 | 7:45,960,718 | G/C | — | uncertain significance |
| rs2854744 | 7:45,961,075 | G/T | regulatory region variant | — |
| rs2132572 | 7:45,961,545 | T/G | — | — |
| rs2132570 | 7:45,962,463 | T/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.