BMP4
bone morphogenetic protein 4
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 each subunit of the disulfide-linked homodimer. This protein regulates heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016]
Known Variants191 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs568281464 | 14:54,416,478 | T/C | — | uncertain significance |
| rs1895269405 | 14:54,416,496 | T/A | — | uncertain significance |
| rs573118445 | 14:54,416,499 | G/A | — | conflicting classifications of pathogenicity |
| rs74495140 | 14:54,416,601 | C/T | — | conflicting classifications of pathogenicity |
| rs76335800 | 14:54,416,602 | T/A | — | likely benign |
| rs750395429 | 14:54,416,607 | T/A | — | uncertain significance |
| rs76149166 | 14:54,416,619 | T/A | — | uncertain significance |
| rs74054236 | 14:54,416,662 | G/A | — | likely benign |
| rs886050540 | 14:54,416,715 | G/C | — | uncertain significance |
| rs374037026 | 14:54,416,719 | A/T | — | conflicting classifications of pathogenicity |
| rs185647938 | 14:54,416,722 | T/A | — | likely benign |
| rs750868626 | 14:54,416,754 | C/T | — | uncertain significance |
| rs780662639 | 14:54,416,768 | C/T | — | likely benign |
| rs1375945940 | 14:54,416,798 | T/C | — | likely benign |
| rs1248669414 | 14:54,416,801 | C/T | — | likely benign |
| rs781343227 | 14:54,416,806 | T/C | — | uncertain significance |
| rs2502576504 | 14:54,416,859 | C/T | — | likely pathogenic |
| rs150746317 | 14:54,416,878 | T/G | — | conflicting classifications of pathogenicity |
| rs2502576764 | 14:54,416,889 | G/A | — | uncertain significance |
| rs546306238 | 14:54,416,892 | T/C | — | uncertain significance |
| rs760397289 | 14:54,416,901 | G/A | — | uncertain significance |
| rs1213342000 | 14:54,416,935 | G/A | — | uncertain significance |
| rs121912766 | 14:54,416,940 | G/A | missense variant | pathogenic |
| rs1191198347 | 14:54,416,945 | T/C | — | likely benign |
| rs752087708 | 14:54,416,951 | G/C | — | likely benign |
| rs550409227 | 14:54,416,976 | G/T | — | uncertain significance |
| rs1159448000 | 14:54,416,998 | C/T | — | uncertain significance |
| rs112898335 | 14:54,417,023 | G/A | — | likely benign |
| rs752843930 | 14:54,417,035 | A/G | — | likely benign |
| rs778093557 | 14:54,417,042 | G/A | — | uncertain significance |
| rs770777693 | 14:54,417,049 | G/A | — | uncertain significance |
| rs182373336 | 14:54,417,079 | G/A | — | conflicting classifications of pathogenicity |
| rs370847935 | 14:54,417,114 | C/T | — | conflicting classifications of pathogenicity |
| rs756935500 | 14:54,417,115 | G/A | — | uncertain significance |
| rs121912768 | 14:54,417,117 | C/T | missense variant | likely benign |
| rs1435675398 | 14:54,417,118 | G/A | — | uncertain significance |
| rs550226363 | 14:54,417,120 | C/T | — | uncertain significance |
| rs1377644626 | 14:54,417,121 | G/A | — | conflicting classifications of pathogenicity |
| rs1895322643 | 14:54,417,132 | T/A | — | uncertain significance |
| rs776094026 | 14:54,417,138 | C/G | — | uncertain significance |
| rs566882530 | 14:54,417,139 | G/A | — | conflicting classifications of pathogenicity |
| rs2140234580 | 14:54,417,159 | A/G | — | uncertain significance |
| rs775995114 | 14:54,417,160 | C/G | — | uncertain significance |
| rs373162816 | 14:54,417,164 | G/A | — | likely benign |
| rs1895326622 | 14:54,417,167 | G/T | — | likely benign |
| rs534215890 | 14:54,417,171 | C/T | — | likely benign |
| rs780091128 | 14:54,417,208 | A/G | — | uncertain significance |
| rs756779422 | 14:54,417,211 | G/A | — | conflicting classifications of pathogenicity |
| rs1171733069 | 14:54,417,213 | C/T | — | uncertain significance |
| rs1375082670 | 14:54,417,215 | A/G | — | likely benign |
| rs1460775726 | 14:54,417,224 | A/G | — | conflicting classifications of pathogenicity |
| rs200671094 | 14:54,417,226 | G/A | — | conflicting classifications of pathogenicity |
| rs149883007 | 14:54,417,243 | C/T | — | uncertain significance |
| rs769454152 | 14:54,417,244 | G/A | — | uncertain significance |
| rs567804941 | 14:54,417,246 | G/A | — | likely benign |
| rs2502580652 | 14:54,417,248 | C/G | — | uncertain significance |
| rs2502580922 | 14:54,417,274 | C/G | — | uncertain significance |
| rs1355254921 | 14:54,417,294 | T/C | — | uncertain significance |
| rs538330477 | 14:54,417,300 | C/T | — | conflicting classifications of pathogenicity |
| rs140590144 | 14:54,417,301 | G/A | — | conflicting classifications of pathogenicity |
| rs144556455 | 14:54,417,304 | T/C | — | conflicting classifications of pathogenicity |
| rs2502581424 | 14:54,417,306 | C/T | — | uncertain significance |
| rs766285160 | 14:54,417,309 | C/T | — | uncertain significance |
| rs373023560 | 14:54,417,310 | G/A | — | uncertain significance |
| rs1594792712 | 14:54,417,342 | C/T | — | likely pathogenic |
| rs777345984 | 14:54,417,345 | C/T | — | uncertain significance |
| rs770637496 | 14:54,417,353 | A/G | — | likely benign |
| rs777036089 | 14:54,417,362 | G/T | — | likely benign |
| rs1566579495 | 14:54,417,363 | A/G | — | uncertain significance |
| rs770008356 | 14:54,417,372 | G/A | — | uncertain significance |
| rs773506129 | 14:54,417,384 | C/T | — | uncertain significance |
| rs387906597 | 14:54,417,385 | G/A | stop gained | pathogenic |
| rs766768360 | 14:54,417,387 | G/A | — | uncertain significance |
| rs915838084 | 14:54,417,395 | G/A | — | likely benign |
| rs759277724 | 14:54,417,409 | C/T | — | uncertain significance |
| rs755552169 | 14:54,417,417 | G/A | — | uncertain significance |
| rs201411996 | 14:54,417,447 | C/T | — | uncertain significance |
| rs1252264079 | 14:54,417,456 | C/T | — | uncertain significance |
| rs1209155526 | 14:54,417,458 | C/T | — | likely benign |
| rs1064796998 | 14:54,417,465 | C/T | — | conflicting classifications of pathogenicity |
| rs747360940 | 14:54,417,467 | A/G | — | likely benign |
| rs373924774 | 14:54,417,475 | C/G | — | conflicting classifications of pathogenicity |
| rs372637689 | 14:54,417,481 | C/T | — | uncertain significance |
| rs770493925 | 14:54,417,492 | C/T | — | conflicting classifications of pathogenicity |
| rs773416502 | 14:54,417,493 | G/A | — | uncertain significance |
| rs749431429 | 14:54,417,496 | A/G | — | uncertain significance |
| rs777406477 | 14:54,417,501 | C/T | — | uncertain significance |
| rs774455359 | 14:54,417,502 | G/A | — | uncertain significance |
| rs935421961 | 14:54,417,516 | G/A | — | conflicting classifications of pathogenicity |
| rs17563 | 14:54,417,522 | A/G | missense variant | likely benign |
| rs2502584237 | 14:54,417,525 | T/A | — | pathogenic |
| rs2502584260 | 14:54,417,526 | C/T | — | uncertain significance |
| rs767216159 | 14:54,417,527 | G/C | — | uncertain significance |
| rs760592277 | 14:54,417,535 | G/A | — | uncertain significance |
| rs1819759617 | 14:54,417,541 | T/C | — | uncertain significance |
| rs199698258 | 14:54,417,547 | G/C | — | uncertain significance |
| rs1895364575 | 14:54,417,551 | A/T | — | uncertain significance |
| rs773804981 | 14:54,417,561 | C/A | — | uncertain significance |
| rs750057569 | 14:54,417,574 | T/C | — | uncertain significance |
| rs1009117343 | 14:54,417,579 | C/T | — | uncertain significance |
Showing 100 of 191 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.