SHH
sonic hedgehog signaling molecule
Summary
This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human proteins showing sequence and functional similarity to the sonic hedgehog protein of Drosophila, this protein is the most similar. The protein is made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the developing embryo. Defects in this protein or in its signalling pathway are a cause of holoprosencephaly (HPE), a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres. HPE is manifested by facial deformities. It is also thought that mutations in this gene or in its signalling pathway may be responsible for VACTERL syndrome, which is characterized by vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, cardiac anomalies, and limb abnormalities. Additionally, mutations in a long range enhancer located approximately 1 megabase upstream of this gene disrupt limb patterning and can result in preaxial polydactyly. [provided by RefSeq, Jul 2008]
Known Variants407 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs868096125 | 7:155,592,770 | G/T | — | pathogenic |
| rs148863769 | 7:155,592,835 | C/T | — | benign |
| rs747414403 | 7:155,592,836 | G/A | — | likely benign |
| rs570710567 | 7:155,592,853 | A/G | — | likely benign |
| rs1239653562 | 7:155,592,857 | G/A | — | likely benign |
| rs574899320 | 7:155,592,872 | C/T | — | likely benign |
| rs555228243 | 7:155,592,873 | G/A | — | likely benign |
| rs1233560 | 7:155,593,438 | G/A | 3 prime UTR variant | — |
| rs111658284 | 7:155,595,382 | A/G | — | likely benign |
| rs768929857 | 7:155,595,559 | G/C | — | likely benign |
| rs767315773 | 7:155,595,565 | T/C | — | likely benign |
| rs772915697 | 7:155,595,569 | G/C | — | likely benign |
| rs754480431 | 7:155,595,586 | C/A | — | conflicting classifications of pathogenicity |
| rs752371542 | 7:155,595,589 | C/T | — | likely benign |
| rs756628608 | 7:155,595,618 | C/T | — | likely benign |
| rs1013898422 | 7:155,595,632 | C/T | — | uncertain significance |
| rs969802078 | 7:155,595,643 | A/G | — | uncertain significance |
| rs2117124779 | 7:155,595,648 | C/T | — | likely pathogenic |
| rs2535891204 | 7:155,595,649 | C/T | — | uncertain significance |
| rs1301593958 | 7:155,595,652 | G/A | — | uncertain significance |
| rs772208100 | 7:155,595,661 | T/C | — | uncertain significance |
| rs2117124880 | 7:155,595,674 | G/A | — | likely pathogenic |
| rs1554493607 | 7:155,595,676 | G/T | — | pathogenic |
| rs2117124904 | 7:155,595,679 | T/C | — | likely pathogenic |
| rs2535891336 | 7:155,595,681 | C/T | — | pathogenic |
| rs1803230762 | 7:155,595,687 | G/C | — | uncertain significance |
| rs1803230945 | 7:155,595,691 | C/T | — | uncertain significance |
| rs770780772 | 7:155,595,693 | C/T | — | likely benign |
| rs759519347 | 7:155,595,701 | C/T | — | uncertain significance |
| rs763665589 | 7:155,595,704 | C/T | — | uncertain significance |
| rs1563198679 | 7:155,595,711 | C/T | — | uncertain significance |
| rs780618619 | 7:155,595,712 | G/A | — | uncertain significance |
| rs104894048 | 7:155,595,713 | G/C | missense variant | pathogenic |
| rs1384501803 | 7:155,595,717 | G/A | — | likely benign |
| rs755577298 | 7:155,595,720 | G/A | — | likely benign |
| rs1369784245 | 7:155,595,764 | C/T | — | uncertain significance |
| rs1321845312 | 7:155,595,766 | C/T | — | uncertain significance |
| rs1162576975 | 7:155,595,772 | C/T | — | uncertain significance |
| rs1803237255 | 7:155,595,773 | C/T | — | uncertain significance |
| rs1251153385 | 7:155,595,777 | G/A | — | likely benign |
| rs1395203013 | 7:155,595,784 | T/A | — | uncertain significance |
| rs1370608867 | 7:155,595,787 | C/T | — | uncertain significance |
| rs977002510 | 7:155,595,788 | C/T | — | uncertain significance |
| rs1346047832 | 7:155,595,795 | G/A | — | likely benign |
| rs551809680 | 7:155,595,802 | C/T | — | conflicting classifications of pathogenicity |
| rs751239867 | 7:155,595,805 | G/C | — | uncertain significance |
| rs1803239333 | 7:155,595,807 | G/A | — | likely benign |
| rs1131692264 | 7:155,595,812 | C/T | — | uncertain significance |
| rs2535892171 | 7:155,595,814 | A/G | — | uncertain significance |
| rs1803239855 | 7:155,595,816 | T/A | — | likely benign |
| rs941804591 | 7:155,595,819 | A/G | — | benign |
| rs2535892229 | 7:155,595,828 | C/T | — | likely benign |
| rs1584796659 | 7:155,595,834 | C/A | — | likely benign |
| rs137853341 | 7:155,595,836 | C/T | missense variant | uncertain significance |
| rs1803240923 | 7:155,595,841 | C/A | — | uncertain significance |
| rs1183016796 | 7:155,595,849 | C/T | — | likely benign |
| rs1258661873 | 7:155,595,851 | C/T | — | uncertain significance |
| rs2535892331 | 7:155,595,856 | G/T | — | uncertain significance |
| rs2117126217 | 7:155,595,863 | G/A | — | uncertain significance |
| rs1554493722 | 7:155,595,867 | C/T | — | likely pathogenic |
| rs1265911355 | 7:155,595,869 | A/G | — | uncertain significance |
| rs753315599 | 7:155,595,881 | C/A | — | likely pathogenic |
| rs758397120 | 7:155,595,882 | G/C | — | uncertain significance |
| rs1304554866 | 7:155,595,888 | C/A | — | likely benign |
| rs2117126331 | 7:155,595,889 | G/A | — | uncertain significance |
| rs747202947 | 7:155,595,897 | C/G | — | likely benign |
| rs866005910 | 7:155,595,898 | G/A | — | likely pathogenic |
| rs1803243344 | 7:155,595,900 | G/C | — | likely benign |
| rs757501714 | 7:155,595,901 | G/A | — | uncertain significance |
| rs191903572 | 7:155,595,905 | G/A | — | conflicting classifications of pathogenicity |
| rs1803243901 | 7:155,595,910 | C/T | — | uncertain significance |
| rs1057524243 | 7:155,595,923 | T/C | — | uncertain significance |
| rs2535892639 | 7:155,595,928 | C/T | — | conflicting classifications of pathogenicity |
| rs768025752 | 7:155,595,935 | C/A | — | uncertain significance |
| rs886042458 | 7:155,595,943 | G/A | missense variant | pathogenic |
| rs2117126655 | 7:155,595,946 | G/A | — | conflicting classifications of pathogenicity |
| rs1178084524 | 7:155,595,954 | G/C | — | likely benign |
| rs1057518056 | 7:155,595,955 | C/T | missense variant | pathogenic |
| rs1469041426 | 7:155,595,958 | G/A | — | uncertain significance |
| rs904575296 | 7:155,595,960 | G/A | — | likely benign |
| rs1563198990 | 7:155,595,965 | C/A | — | pathogenic |
| rs2535892854 | 7:155,595,969 | G/C | — | likely benign |
| rs1803246364 | 7:155,595,970 | C/A | — | uncertain significance |
| rs2535892871 | 7:155,595,971 | T/A | — | uncertain significance |
| rs587778774 | 7:155,595,978 | C/T | — | benign |
| rs1303961828 | 7:155,595,985 | T/G | — | uncertain significance |
| rs104894052 | 7:155,595,988 | A/G | missense variant | pathogenic |
| rs1223500145 | 7:155,595,989 | C/T | — | uncertain significance |
| rs886043421 | 7:155,595,994 | G/A | — | uncertain significance |
| rs765693103 | 7:155,596,011 | G/A | — | uncertain significance |
| rs1803248792 | 7:155,596,016 | C/T | — | uncertain significance |
| rs1422908199 | 7:155,596,017 | G/T | — | uncertain significance |
| rs1480063398 | 7:155,596,019 | C/T | — | likely benign |
| rs1803249091 | 7:155,596,022 | G/T | — | uncertain significance |
| rs1159911756 | 7:155,596,025 | C/A | — | pathogenic |
| rs753122979 | 7:155,596,026 | G/A | — | likely benign |
| rs2535893179 | 7:155,596,031 | C/T | — | uncertain significance |
| rs2117127137 | 7:155,596,039 | A/C | — | uncertain significance |
| rs2117127148 | 7:155,596,040 | C/T | — | uncertain significance |
| rs2535893269 | 7:155,596,053 | G/A | — | likely benign |
Showing 100 of 407 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.