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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:600725
PHARMGKB IDPA35752
Map Location7q36.3

GO terms in SHH


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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
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Gene expression in normal tissue: SHH

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in SHH


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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
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD267 Oligomycin A 2
iGMDRD318 PAC-1 3
iGMDRD289 Parthenolide 1
iGMDRD137 Indisulam 3
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SHH

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
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