|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:medulloblastoma
gptkb:rhabdomyosarcoma
pancreatic cancer
Desert Hedgehog (DHH)
Indian Hedgehog (IHH)
|
|
gptkbp:discoveredBy
|
gptkb:Cliff_Tabin
gptkb:Andrew_P._McMahon
gptkb:Philip_Ingham
|
|
gptkbp:discoveredIn
|
1993
|
|
gptkbp:encodes
|
gptkb:Sonic_Hedgehog_protein
|
|
gptkbp:Entrez_Gene_ID
|
6469
ENSG00000164690
|
|
gptkbp:expressedIn
|
notochord
floor plate
limb bud
|
|
gptkbp:function
|
embryonic development
cell signaling
pattern formation
|
|
gptkbp:geneType
|
gptkb:gene
|
|
gptkbp:HGNC_ID
|
10848
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Sonic Hedgehog (gene)
|
|
gptkbp:length
|
462 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_7
7q36
|
|
gptkbp:molecularWeight
|
~45 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:Gorlin_syndrome
gptkb:holoprosencephaly
basal cell carcinoma
|
|
gptkbp:namedAfter
|
gptkb:Sonic_the_Hedgehog
|
|
gptkbp:OMIM
|
600725
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:Drosophila_melanogaster
|
|
gptkbp:orthologName
|
hedgehog (hh)
|
|
gptkbp:pathway
|
gptkb:Hedgehog_signaling_pathway
|
|
gptkbp:product
|
signaling molecule
morphogen
|
|
gptkbp:proteinFamily
|
Hedgehog gene family
|
|
gptkbp:recipient
|
gptkb:Smoothened_(SMO)
Patched (PTCH1)
|
|
gptkbp:role
|
left-right asymmetry
neural tube patterning
digit formation
|
|
gptkbp:symbol
|
gptkb:SHH
|
|
gptkbp:targetOfDrug
|
Glasdegib
Sonidegib
Vismodegib
|
|
gptkbp:UniProtID
|
gptkb:Q15465
|
|
gptkbp:bfsParent
|
gptkb:SCH
|
|
gptkbp:bfsLayer
|
7
|