IGFBP7
insulin like growth factor binding protein 7
Summary
This gene encodes a member of the insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its receptors. This protein binds IGF-I and IGF-II with relatively low affinity, and belongs to a subfamily of low-affinity IGFBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and one variant has been associated with retinal arterial macroaneurysm (PMID:21835307). [provided by RefSeq, Dec 2011]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs140470135 | 4:57,897,491 | C/T | — | uncertain significance |
| rs866994863 | 4:57,897,503 | C/T | — | pathogenic |
| rs764942670 | 4:57,898,592 | C/T | — | pathogenic |
| rs2476050682 | 4:57,898,691 | C/T | — | uncertain significance |
| rs2476050720 | 4:57,898,698 | T/G | — | likely benign |
| rs11573127 | 4:57,898,728 | A/G | — | benign |
| rs3755906 | 4:57,906,986 | A/T | — | benign |
| rs35855328 | 4:57,907,014 | C/T | — | benign |
| rs145854926 | 4:57,907,088 | C/G | — | uncertain significance |
| rs114518130 | 4:57,913,253 | G/A | intron variant | — |
| rs10049992 | 4:57,939,863 | T/A | — | — |
| rs1718849 | 4:57,942,323 | T/C | downstream gene variant | — |
| rs4508954 | 4:57,951,527 | C/A | — | — |
| rs6827768 | 4:57,952,002 | T/A | intron variant | — |
| rs11133482 | 4:57,973,879 | C/T | upstream gene variant | — |
| rs548051457 | 4:57,976,087 | C/T | — | uncertain significance |
| rs367949344 | 4:57,976,115 | C/T | — | benign |
| rs371933194 | 4:57,976,148 | C/T | — | uncertain significance |
| rs1243637444 | 4:57,976,204 | G/C | — | uncertain significance |
| rs1357794774 | 4:57,976,208 | C/T | — | uncertain significance |
| rs1225282315 | 4:57,976,263 | C/T | — | uncertain significance |
| rs2475425845 | 4:57,976,268 | C/T | — | uncertain significance |
| rs866509353 | 4:57,976,285 | C/T | — | uncertain significance |
| rs751110814 | 4:57,976,289 | C/T | — | uncertain significance |
| rs11555293 | 4:57,976,292 | C/T | — | uncertain significance |
| rs942974010 | 4:57,976,351 | G/A | — | uncertain significance |
| rs570122247 | 4:57,976,417 | G/T | — | likely benign |
| rs987919612 | 4:57,976,435 | G/A | — | uncertain significance |
| rs4075349 | 4:57,976,957 | C/A | — | — |
| rs11573014 | 4:57,977,241 | C/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.