IGFBP4
insulin like growth factor binding protein 4
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 binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma in both glycosylated and non-glycosylated forms. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq, Jul 2008]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs584438 | 17:38,599,172 | C/G | — | — |
| rs598892 | 17:38,600,092 | G/A | synonymous variant | — |
| rs578013057 | 17:38,600,105 | C/T | — | uncertain significance |
| rs1281445236 | 17:38,600,111 | G/T | — | uncertain significance |
| rs910722865 | 17:38,600,120 | G/C | — | uncertain significance |
| rs1022859902 | 17:38,600,322 | G/C | — | uncertain significance |
| rs79982277 | 17:38,609,244 | C/T | — | benign |
| rs144152405 | 17:38,609,258 | C/G | — | uncertain significance |
| rs143445546 | 17:38,609,262 | C/T | — | likely benign |
| rs777120339 | 17:38,609,309 | A/G | — | uncertain significance |
| rs765348570 | 17:38,609,387 | G/A | — | likely benign |
| rs140065497 | 17:38,610,214 | C/T | — | uncertain significance |
| rs758138822 | 17:38,610,222 | C/T | — | uncertain significance |
| rs538399 | 17:38,610,665 | A/G | regulatory region variant | — |
| rs563069739 | 17:38,612,756 | C/T | missense variant | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.