TGFB2
transforming growth factor beta 2
Summary
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety of human cancers. A chromosomal translocation that includes this gene is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. Mutations in this gene may be associated with Loeys-Dietz syndrome. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]
Known Variants528 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7550232 | 1:218,518,515 | A/C | splice region variant | benign |
| rs10482718 | 1:218,518,742 | A/G | — | likely benign |
| rs886045958 | 1:218,518,773 | A/G | — | uncertain significance |
| rs1002933360 | 1:218,518,795 | G/A | — | uncertain significance |
| rs1656628678 | 1:218,518,807 | G/C | — | uncertain significance |
| rs11466363 | 1:218,518,814 | G/A | — | likely benign |
| rs886045959 | 1:218,518,891 | G/T | — | uncertain significance |
| rs11466365 | 1:218,519,028 | C/T | — | likely benign |
| rs886045960 | 1:218,519,250 | T/C | — | uncertain significance |
| rs1557153 | 1:218,519,260 | A/C | — | benign |
| rs954024485 | 1:218,519,286 | G/C | — | uncertain significance |
| rs576053414 | 1:218,519,298 | G/T | — | benign |
| rs73110310 | 1:218,519,330 | A/C | — | benign |
| rs886045961 | 1:218,519,345 | A/C | — | uncertain significance |
| rs886045962 | 1:218,519,361 | C/A | — | uncertain significance |
| rs886045963 | 1:218,519,362 | C/G | — | uncertain significance |
| rs886045964 | 1:218,519,365 | G/A | — | uncertain significance |
| rs112369231 | 1:218,519,367 | T/C | — | benign |
| rs886045965 | 1:218,519,381 | C/T | — | uncertain significance |
| rs886045968 | 1:218,519,398 | G/A | — | uncertain significance |
| rs747761067 | 1:218,519,400 | A/G | — | uncertain significance |
| rs886045971 | 1:218,519,424 | G/A | — | conflicting classifications of pathogenicity |
| rs1018085683 | 1:218,519,428 | G/A | — | uncertain significance |
| rs886045972 | 1:218,519,475 | T/C | — | uncertain significance |
| rs886045973 | 1:218,519,502 | C/T | — | uncertain significance |
| rs868385461 | 1:218,519,504 | A/T | — | uncertain significance |
| rs1656669231 | 1:218,519,530 | T/C | — | uncertain significance |
| rs148765724 | 1:218,519,706 | T/A | — | uncertain significance |
| rs116531760 | 1:218,519,756 | A/T | — | likely benign |
| rs1656685944 | 1:218,519,943 | A/G | — | uncertain significance |
| rs1004111898 | 1:218,519,948 | C/A | — | uncertain significance |
| rs779785854 | 1:218,520,028 | T/C | — | likely benign |
| rs772514115 | 1:218,520,038 | T/A | — | likely benign |
| rs200702935 | 1:218,520,039 | A/T | — | likely benign |
| rs1571820524 | 1:218,520,040 | A/C | — | likely benign |
| rs776628524 | 1:218,520,054 | G/A | — | likely benign |
| rs1571820552 | 1:218,520,056 | G/C | — | uncertain significance |
| rs1553292060 | 1:218,520,060 | T/C | — | uncertain significance |
| rs2464548209 | 1:218,520,062 | A/G | — | uncertain significance |
| rs765477784 | 1:218,520,063 | G/C | — | uncertain significance |
| rs752870701 | 1:218,520,065 | G/A | — | uncertain significance |
| rs1571820584 | 1:218,520,073 | G/C | — | likely benign |
| rs2464548298 | 1:218,520,074 | A/C | — | likely benign |
| rs763918203 | 1:218,520,080 | C/A | — | conflicting classifications of pathogenicity |
| rs1656693157 | 1:218,520,081 | A/G | — | uncertain significance |
| rs1407180803 | 1:218,520,083 | C/T | — | likely benign |
| rs886045975 | 1:218,520,095 | G/A | — | uncertain significance |
| rs757201195 | 1:218,520,096 | C/T | — | uncertain significance |
| rs781126315 | 1:218,520,097 | G/T | — | conflicting classifications of pathogenicity |
| rs1224916923 | 1:218,520,100 | C/T | — | likely benign |
| rs1656695125 | 1:218,520,102 | G/A | — | uncertain significance |
| rs2464548677 | 1:218,520,116 | A/C | — | uncertain significance |
| rs755643964 | 1:218,520,121 | A/G | — | likely benign |
| rs1209272897 | 1:218,520,122 | C/A | — | uncertain significance |
| rs2464548759 | 1:218,520,124 | C/A | — | likely benign |
| rs2464548787 | 1:218,520,127 | T/C | — | likely benign |
| rs779872141 | 1:218,520,137 | T/C | — | uncertain significance |
| rs1558220002 | 1:218,520,141 | T/G | — | uncertain significance |
| rs1571820734 | 1:218,520,143 | C/T | — | uncertain significance |
| rs1064796462 | 1:218,520,144 | G/A | — | uncertain significance |
| rs10482720 | 1:218,520,149 | A/C | — | likely benign |
| rs768388826 | 1:218,520,151 | G/A | — | likely benign |
| rs1440677621 | 1:218,520,154 | C/G | — | uncertain significance |
| rs1656697535 | 1:218,520,155 | G/A | — | uncertain significance |
| rs149215818 | 1:218,520,157 | G/A | — | likely benign |
| rs2102527478 | 1:218,520,159 | C/T | — | uncertain significance |
| rs1430240541 | 1:218,520,160 | G/C | — | likely benign |
| rs2102527486 | 1:218,520,162 | T/A | — | uncertain significance |
| rs2464549130 | 1:218,520,164 | C/T | — | uncertain significance |
| rs1558220033 | 1:218,520,168 | G/A | — | uncertain significance |
| rs1199107727 | 1:218,520,169 | G/A | — | likely benign |
| rs2464549208 | 1:218,520,170 | C/T | — | pathogenic |
| rs1553292084 | 1:218,520,176 | C/T | — | likely benign |
| rs1318854254 | 1:218,520,180 | G/A | — | uncertain significance |
| rs2464549320 | 1:218,520,184 | G/A | — | likely benign |
| rs2102527511 | 1:218,520,185 | C/T | — | likely benign |
| rs1553292088 | 1:218,520,186 | T/G | — | uncertain significance |
| rs2102527516 | 1:218,520,188 | A/T | — | pathogenic |
| rs1656699232 | 1:218,520,190 | G/A | — | likely benign |
| rs1656699420 | 1:218,520,195 | C/T | — | uncertain significance |
| rs771351240 | 1:218,520,197 | A/G | — | uncertain significance |
| rs1431335293 | 1:218,520,199 | T/G | — | uncertain significance |
| rs2464549575 | 1:218,520,202 | C/T | — | likely benign |
| rs769913843 | 1:218,520,205 | A/G | — | likely benign |
| rs1656700353 | 1:218,520,207 | A/G | — | uncertain significance |
| rs897070997 | 1:218,520,214 | T/A | — | pathogenic |
| rs1359839189 | 1:218,520,215 | C/T | — | uncertain significance |
| rs1656700665 | 1:218,520,216 | C/T | — | uncertain significance |
| rs775518697 | 1:218,520,217 | T/G | — | likely benign |
| rs2464549647 | 1:218,520,219 | A/G | — | uncertain significance |
| rs763228811 | 1:218,520,224 | G/A | — | uncertain significance |
| rs764288352 | 1:218,520,226 | G/A | — | likely benign |
| rs2464549716 | 1:218,520,229 | A/G | — | likely benign |
| rs774030175 | 1:218,520,232 | C/T | — | likely benign |
| rs1317014757 | 1:218,520,234 | C/T | — | uncertain significance |
| rs747128130 | 1:218,520,236 | C/T | — | uncertain significance |
| rs750324465 | 1:218,520,237 | C/T | — | uncertain significance |
| rs201761868 | 1:218,520,242 | G/A | — | conflicting classifications of pathogenicity |
| rs1656702743 | 1:218,520,251 | A/G | — | uncertain significance |
| rs1027195424 | 1:218,520,252 | T/C | — | uncertain significance |
Showing 100 of 528 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.