Entity Details

Primary name SHH
Entity type gene
Source Source Link

Details

PrimaryID6469
RefseqGeneNG_007504
SymbolSHH
Namesonic hedgehog signaling molecule
Chromosome7
Location7q36.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsSHH_HUMAN

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0001569 branching involved in blood vessel morphogenesis
GO:0001570 vasculogenesis
GO:0001656 metanephros development
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001708 cell fate specification
GO:0001755 neural crest cell migration
GO:0001947 heart looping
GO:0002052 positive regulation of neuroblast proliferation
GO:0002076 osteoblast development
GO:0002320 lymphoid progenitor cell differentiation
GO:0003140 determination of left/right asymmetry in lateral mesoderm
GO:0005113 patched binding
GO:0005509 calcium ion binding
GO:0005539 glycosaminoglycan binding
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006897 endocytosis
GO:0007224 smoothened signaling pathway
GO:0007228 positive regulation of hh target transcription factor activity
GO:0007267 cell-cell signaling
GO:0007389 pattern specification process
GO:0007398 ectoderm development
GO:0007405 neuroblast proliferation
GO:0007411 axon guidance
GO:0007417 central nervous system development
GO:0007418 ventral midline development
GO:0007442 hindgut morphogenesis
GO:0007507 heart development
GO:0007596 blood coagulation
GO:0008209 androgen metabolic process
GO:0008233 peptidase activity
GO:0008270 zinc ion binding
GO:0008284 positive regulation of cell population proliferation
GO:0009880 embryonic pattern specification
GO:0009949 polarity specification of anterior/posterior axis
GO:0009953 dorsal/ventral pattern formation
GO:0009986 cell surface
GO:0010468 regulation of gene expression
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0014003 oligodendrocyte development
GO:0014706 striated muscle tissue development
GO:0014858 positive regulation of skeletal muscle cell proliferation
GO:0014902 myotube differentiation
GO:0016015 morphogen activity
GO:0016539 intein-mediated protein splicing
GO:0016540 protein autoprocessing
GO:0021513 spinal cord dorsal/ventral patterning
GO:0021522 spinal cord motor neuron differentiation
GO:0021794 thalamus development
GO:0021904 dorsal/ventral neural tube patterning
GO:0021930 cerebellar granule cell precursor proliferation
GO:0021938 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation
GO:0021978 telencephalon regionalization
GO:0030010 establishment of cell polarity
GO:0030162 regulation of proteolysis
GO:0030177 positive regulation of Wnt signaling pathway
GO:0030324 lung development
GO:0030326 embryonic limb morphogenesis
GO:0030336 negative regulation of cell migration
GO:0030539 male genitalia development
GO:0030850 prostate gland development
GO:0030878 thyroid gland development
GO:0030900 forebrain development
GO:0030901 midbrain development
GO:0030902 hindbrain development
GO:0031016 pancreas development
GO:0031069 hair follicle morphogenesis
GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0033077 T cell differentiation in thymus
GO:0033089 positive regulation of T cell differentiation in thymus
GO:0033092 positive regulation of immature T cell proliferation in thymus
GO:0034244 negative regulation of transcription elongation from RNA polymerase II promoter
GO:0034504 protein localization to nucleus
GO:0035115 embryonic forelimb morphogenesis
GO:0035116 embryonic hindlimb morphogenesis
GO:0042127 regulation of cell population proliferation
GO:0042130 negative regulation of T cell proliferation
GO:0042307 positive regulation of protein import into nucleus
GO:0042475 odontogenesis of dentin-containing tooth
GO:0042481 regulation of odontogenesis
GO:0042733 embryonic digit morphogenesis
GO:0043010 camera-type eye development
GO:0043066 negative regulation of apoptotic process
GO:0043237 laminin-1 binding
GO:0043369 CD4-positive or CD8-positive, alpha-beta T cell lineage commitment
GO:0045059 positive thymic T cell selection
GO:0045060 negative thymic T cell selection
GO:0045109 intermediate filament organization
GO:0045121 membrane raft
GO:0045445 myoblast differentiation
GO:0045596 negative regulation of cell differentiation
GO:0045880 positive regulation of smoothened signaling pathway
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046638 positive regulation of alpha-beta T cell differentiation
GO:0046639 negative regulation of alpha-beta T cell differentiation
GO:0048468 cell development
GO:0048538 thymus development
GO:0048557 embryonic digestive tract morphogenesis
GO:0048617 embryonic foregut morphogenesis
GO:0048643 positive regulation of skeletal muscle tissue development
GO:0048645 animal organ formation
GO:0048663 neuron fate commitment
GO:0048706 embryonic skeletal system development
GO:0048709 oligodendrocyte differentiation
GO:0048714 positive regulation of oligodendrocyte differentiation
GO:0048745 smooth muscle tissue development
GO:0048754 branching morphogenesis of an epithelial tube
GO:0048839 inner ear development
GO:0048859 formation of anatomical boundary
GO:0048864 stem cell development
GO:0051155 positive regulation of striated muscle cell differentiation
GO:0051781 positive regulation of cell division
GO:0060020 Bergmann glial cell differentiation
GO:0060021 roof of mouth development
GO:0060070 canonical Wnt signaling pathway
GO:0060174 limb bud formation
GO:0060428 lung epithelium development
GO:0060439 trachea morphogenesis
GO:0060445 branching involved in salivary gland morphogenesis
GO:0060447 bud outgrowth involved in lung branching
GO:0060458 right lung development
GO:0060459 left lung development
GO:0060463 lung lobe morphogenesis
GO:0060484 lung-associated mesenchyme development
GO:0060516 primary prostatic bud elongation
GO:0060523 prostate epithelial cord elongation
GO:0060662 salivary gland cavitation
GO:0060664 epithelial cell proliferation involved in salivary gland morphogenesis
GO:0060685 regulation of prostatic bud formation
GO:0060738 epithelial-mesenchymal signaling involved in prostate gland development
GO:0060769 positive regulation of epithelial cell proliferation involved in prostate gland development
GO:0060782 regulation of mesenchymal cell proliferation involved in prostate gland development
GO:0060783 mesenchymal smoothened signaling pathway involved in prostate gland development
GO:0060840 artery development
GO:0060916 mesenchymal cell proliferation involved in lung development
GO:0061053 somite development
GO:0061189 positive regulation of sclerotome development
GO:0062023 collagen-containing extracellular matrix
GO:0071285 cellular response to lithium ion
GO:0071542 dopaminergic neuron differentiation
GO:0072136 metanephric mesenchymal cell proliferation involved in metanephros development
GO:0072205 metanephric collecting duct development
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:0090370 negative regulation of cholesterol efflux
GO:0097190 apoptotic signaling pathway
GO:1900175 regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry
GO:1900180 regulation of protein localization to nucleus
GO:1904339 negative regulation of dopaminergic neuron differentiation
GO:1905327 tracheoesophageal septum formation
GO:2000062 negative regulation of ureter smooth muscle cell differentiation
GO:2000063 positive regulation of ureter smooth muscle cell differentiation
GO:2000357 negative regulation of kidney smooth muscle cell differentiation
GO:2000358 positive regulation of kidney smooth muscle cell differentiation
GO:2000729 positive regulation of mesenchymal cell proliferation involved in ureter development
GO:2001054 negative regulation of mesenchymal cell apoptotic process

Diseases

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Disease IDSourceNameDescription
147250 OMIMSolitary median maxillary central incisor (SMMCI)Rare dental anomaly characterized by the congenital absence of one maxillary central incisor. The disease is caused by variants affecting the gene represented in this entry.
135750 OMIMLaurin-Sandrow syndrome (LSS)A rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia. Some patients do not have nasal abnormalities (segmental Laurin-Sandrow syndrome). The gene represented in this entry is involved in disease pathogenesis. Abnormal SHH limb expression with pathological consequences is caused by duplications (16-75 kb) involving the ZPA regulatory sequence (ZRS), a SHH long-range cis-regulatory element, located in LMBR1 intron 5 (PubMed:24456159).
142945 OMIMHoloprosencephaly 3 (HPE3)A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. The majority of holoprosencephaly type 3 cases are apparently sporadic, although clear examples of autosomal dominant inheritance have been described. The disease is caused by variants affecting the gene represented in this entry.
611638 OMIMMicrophthalmia, isolated, with coloboma, 5 (MCOPCB5)A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). The disease is caused by variants affecting the gene represented in this entry.
174500 OMIMTriphalangeal thumb-polysyndactyly syndrome (TPTPS)Autosomal dominant syndrome. It is characterized by a wide spectrum of pre- and post-axial abnormalities due to altered SHH expression pattern during limb development. The gene represented in this entry is involved in disease pathogenesis. Mutations located in intron 5 of LMBR1 disrupt a long-range, cis-regulatory element of SHH expression.
174500 OMIMTriphalangeal thumb-polysyndactyly syndrome (TPTPS)Autosomal dominant syndrome. It is characterized by a wide spectrum of pre- and post-axial abnormalities due to altered SHH expression pattern during limb development. The gene represented in this entry is involved in disease pathogenesis. Mutations located in intron 5 of LMBR1 disrupt a long-range, cis-regulatory element of SHH and result in abnormal, ectopic SHH expression with pathological consequences (PubMed:12837695).
188740 OMIMHypoplasia or aplasia of tibia with polydactyly (THYP)An autosomal dominant disease characterized by hypoplastic or absent tibia, and polydactyly. The gene represented in this entry is involved in disease pathogenesis. Mutations located in intron 5 of LMBR1 disrupt a long-range, cis-regulatory element of SHH and result in abnormal, ectopic SHH expression with pathological consequences.