FGF2
fibroblast growth factor 2
Summary
The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members bind heparin and possess broad mitogenic and angiogenic activities. This protein has been implicated in diverse biological processes, such as limb and nervous system development, wound healing, and tumor growth. The mRNA for this gene contains multiple polyadenylation sites, and is alternatively translated from non-AUG (CUG) and AUG initiation codons, resulting in five different isoforms with distinct properties. The CUG-initiated isoforms are localized in the nucleus and are responsible for the intracrine effect, whereas, the AUG-initiated form is mostly cytosolic and is responsible for the paracrine and autocrine effects of this FGF. [provided by RefSeq, Jul 2008]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs308393 | 4:123,746,619 | A/T | — | — |
| rs308395 | 4:123,746,942 | C/G | upstream gene variant | — |
| rs758218301 | 4:123,748,019 | A/G | — | uncertain significance |
| rs1449683 | 4:123,748,086 | C/T | synonymous variant | — |
| rs1245576530 | 4:123,748,111 | G/A | — | uncertain significance |
| rs1048407271 | 4:123,748,132 | C/G | — | uncertain significance |
| rs1725649093 | 4:123,748,168 | G/A | — | uncertain significance |
| rs1246652416 | 4:123,748,201 | G/A | — | uncertain significance |
| rs1237385877 | 4:123,748,221 | C/G | — | likely benign |
| rs796052159 | 4:123,748,256 | G/A | — | likely benign |
| rs1463879546 | 4:123,748,264 | C/T | — | uncertain significance |
| rs1386563271 | 4:123,748,304 | G/A | — | uncertain significance |
| rs113537066 | 4:123,748,428 | C/T | — | likely benign |
| rs78382766 | 4:123,755,558 | C/G | intron variant | — |
| rs149124691 | 4:123,755,618 | A/G | intron variant | — |
| rs11938826 | 4:123,772,614 | C/G | intron variant | — |
| rs167428 | 4:123,773,439 | T/C | intron variant | — |
| rs308442 | 4:123,774,913 | T/A | intron variant | — |
| rs1960669 | 4:123,782,568 | C/A | intron variant | — |
| rs308379 | 4:123,782,896 | A/T | intron variant | — |
| rs12644427 | 4:123,783,387 | A/G | intron variant | — |
| rs3789138 | 4:123,784,721 | A/G | intron variant | — |
| rs308377 | 4:123,789,369 | C/T | intron variant | — |
| rs148587537 | 4:123,797,480 | G/T | — | likely benign |
| rs546560809 | 4:123,812,187 | T/G | — | — |
| rs151141410 | 4:123,813,376 | C/T | — | uncertain significance |
| rs1168227898 | 4:123,813,420 | A/G | — | uncertain significance |
| rs749974017 | 4:123,813,429 | C/T | — | uncertain significance |
| rs1367982250 | 4:123,813,543 | A/C | — | uncertain significance |
| rs1048201 | 4:123,814,308 | C/T | missense variant | — |
| rs3804158 | 4:123,814,900 | G/A | 3 prime UTR variant | — |
| rs41348645 | 4:123,815,363 | G/A | 3 prime UTR variant | — |
| rs6854081 | 4:123,816,707 | T/A | — | — |
| rs3747676 | 4:123,818,074 | T/G | — | — |
| rs7683093 | 4:123,818,085 | C/A | — | — |
| rs1476215 | 4:123,818,271 | A/T | 3 prime UTR variant | — |
| rs1476217 | 4:123,818,511 | A/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.