SHH
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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
Namesonic hedgehog OMIM IDMIM:600725 Ensembl IDEnsembl:ENSG00000164690 HGNC IDHGNC:HGNC:10848 PHARMGKB IDPA35752 Map Location7q36.3 |
GO terms in SHH
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IDA | GO:0005113 | patched binding |
MF | IDA | GO:0005509 | calcium ion binding |
MF | IPI | GO:0005515 | protein binding |
MF | IEA | GO:0005539 | glycosaminoglycan binding |
MF | IEA | GO:0008233 | peptidase activity |
MF | IDA | GO:0008270 | zinc ion binding |
Gene expression in normal tissue: SHH
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SHH
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-162582 | Signal Transduction |
reactome | R-HSA-162582 | Signal Transduction |
reactome | R-HSA-1643685 | Disease |
reactome | R-HSA-372790 | Signaling by GPCR |
reactome | R-HSA-373080 | Class B/2 (Secretin family receptors) |
reactome | R-HSA-500792 | GPCR ligand binding |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in SHH
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
---|---|---|---|---|---|---|---|---|
No matching records found |