SHH (sonic hedgehog signaling molecule) - Rat Genome Database

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Gene: SHH (sonic hedgehog signaling molecule) Homo sapiens
Symbol: SHH
Name: sonic hedgehog signaling molecule
RGD ID: 736829
HGNC Page HGNC:10848
Description: Enables calcium ion binding activity; patched binding activity; and zinc ion binding activity. Involved in several processes, including hemopoiesis; positive regulation of sclerotome development; and positive regulation of smoothened signaling pathway. Acts upstream of or within epithelial-mesenchymal signaling involved in prostate gland development. Located in Golgi apparatus; endoplasmic reticulum; and extracellular space. Implicated in several diseases, including Hirschsprung's disease; holoprosencephaly (multiple); hypoplastic or aplastic tibia with polydactyly; middle cerebral artery infarction; and polydactyly. Biomarker of several diseases, including autism spectrum disorder; biliary atresia; gastrointestinal system cancer (multiple); glomerulonephritis (multiple); and multiple sclerosis (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HHG1; HLP3; HPE3; MCOPCB5; shh unprocessed N-terminal signaling and C-terminal autoprocessing domains; ShhNC; SMMCI; sonic hedgehog; sonic hedgehog homolog; sonic hedgehog protein; TPT; TPTPS
RGD Orthologs
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh387155,799,980 - 155,812,463 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl7155,799,980 - 155,812,463 (-)EnsemblGRCh38hg38GRCh38
GRCh377155,592,674 - 155,605,157 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367155,288,319 - 155,297,728 (-)NCBINCBI36Build 36hg18NCBI36
Build 347155,095,033 - 155,104,443NCBI
Celera7150,021,217 - 150,030,626 (-)NCBICelera
Cytogenetic Map7q36.3NCBI
HuRef7149,327,101 - 149,336,513 (-)NCBIHuRef
CHM1_17155,604,000 - 155,613,409 (-)NCBICHM1_1
T2T-CHM13v2.07156,983,127 - 156,995,607 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27154,827,119 - 154,836,528 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations     Click to see Annotation Detail View
acrocallosal syndrome  (IAGP)
Anorectal Malformations  (IDA,IEP,ISO)
atrioventricular septal defect  (ISO)
autism spectrum disorder  (IEP)
autistic disorder  (IAGP)
basal cell carcinoma  (IDA)
biliary atresia  (IEP)
brachydactyly type A1  (ISO)
chronic kidney disease  (ISO)
cleft palate  (ISO)
colorectal cancer  (IEP)
Congenital Limb Deformities  (ISO)
demyelinating disease  (ISO)
esophageal atresia/tracheoesophageal fistula  (ISO)
Experimental Arthritis  (ISO)
Experimental Autoimmune Encephalomyelitis  (ISO)
Eye Abnormalities  (EXP)
Facial Dysmorphism with Multiple Malformations  (EXP)
Failure to Thrive  (IAGP)
Fluoride Poisoning  (ISO)
focal segmental glomerulosclerosis  (IEP)
gastrointestinal stromal tumor  (IEP)
genetic disease  (IAGP)
hepatocellular carcinoma  (EXP)
Hirschsprung's disease  (IAGP)
holoprosencephaly  (EXP,IAGP,ISO)
holoprosencephaly 3  (IAGP)
Hyperoxic Lung Injury  (ISO)
hypoplastic or aplastic tibia with polydactyly  (IAGP)
hypothyroidism  (ISO)
IgA glomerulonephritis  (IEP)
Isolated Microphthalmia with Coloboma 5  (IAGP)
Kidney Reperfusion Injury  (ISO)
membranous glomerulonephritis  (IEP)
microphthalmia  (EXP)
middle cerebral artery infarction  (IDA)
multiple sclerosis  (IEP)
myocardial infarction  (ISO)
Myocardial Reperfusion Injury  (ISO)
Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies  (IAGP)
nevoid basal cell carcinoma syndrome  (ISO,ISS)
ocular hypertension  (ISO)
pancreatic cancer  (TAS)
Parkinsonism  (ISO)
Partial Agenesis of Corpus Callosum  (IAGP)
Patterson Stevenson Syndrome  (IAGP)
Peripheral Nerve Injuries  (ISO)
Persistent Cloaca  (IEP,ISO)
polydactyly  (IAGP,ISO)
pre-malignant neoplasm  (ISO)
Preaxial Polydactyly II  (IAGP)
primary progressive multiple sclerosis  (IEP)
Schizencephaly  (IAGP)
secondary Parkinson disease  (EXP)
septooptic dysplasia  (IAGP)
solitary median maxillary central incisor  (IAGP)
Spinal Cord Injuries  (ISO)
stomach cancer  (IEP)
Subarachnoid Hemorrhage  (ISO)
syndactyly type 4  (IAGP)
temporal lobe epilepsy  (IEP,ISO)
ureteral obstruction  (ISO)
VACTERL association  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-amphetamine  (ISO)
1,1-dichloroethene  (ISO)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP,ISO)
Ac-Ser-Asp-Lys-Pro-OH  (EXP,ISO)
actinomycin D  (EXP)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (ISO)
ammonium chloride  (ISO)
apomorphine  (ISO)
Aroclor 1254  (ISO)
arsenous acid  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
benzylpenicillin  (ISO)
bexarotene  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
captopril  (EXP,ISO)
carbon nanotube  (ISO)
chloroprene  (ISO)
chromium(6+)  (EXP,ISO)
cisplatin  (EXP,ISO)
curcumin  (ISO)
Cyclopamine  (EXP,ISO)
D-glucose  (EXP,ISO)
diarsenic trioxide  (EXP,ISO)
dibutyl phthalate  (ISO)
dioxygen  (EXP,ISO)
ethanol  (ISO)
Ethylenethiourea  (ISO)
flavonoids  (ISO)
folic acid  (EXP,ISO)
gemcitabine  (EXP)
genistein  (ISO)
glucose  (EXP,ISO)
goralatide  (EXP,ISO)
hydrogen peroxide  (ISO)
ipriflavone  (EXP,ISO)
isotretinoin  (EXP)
lansoprazole  (ISO)
leflunomide  (ISO)
lipopolysaccharide  (EXP,ISO)
lithium chloride  (ISO)
melittin  (EXP)
methimazole  (ISO)
methylmercury chloride  (ISO)
N-ethyl-N-nitrosourea  (ISO)
nitrofen  (ISO)
Nor-9-carboxy-delta9-THC  (EXP)
ochratoxin A  (ISO)
oxidopamine  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctanoic acid  (EXP)
phenytoin  (ISO)
piperonyl butoxide  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
progesterone  (EXP)
quercetin  (EXP)
quercetin 3-O-beta-D-galactopyranoside  (ISO)
resveratrol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
saccharin  (ISO)
silicon dioxide  (EXP,ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetramethylpyrazine  (ISO)
thyroxine  (ISO)
titanium dioxide  (ISO)
tofacitinib  (EXP)
tolnaftate  (EXP,ISO)
trans-piceid  (ISO)
triadimefon  (ISO)
triptonide  (EXP)
udenafil  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vismodegib  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
alpha-beta T cell differentiation  (IEA,ISO)
alpha-tubulin acetylation  (IEA)
anatomical structure development  (IEA,ISO)
anatomical structure formation involved in morphogenesis  (IEA,ISO)
androgen metabolic process  (IEA,ISO,ISS)
angiogenesis  (IEA,ISO)
animal organ development  (IEA)
animal organ formation  (IEA,ISO)
anterior/posterior pattern specification  (IEA,ISO)
apoptotic signaling pathway  (IEA,ISS)
artery development  (IEA,ISO)
astrocyte differentiation  (IEA,ISO)
axon guidance  (IEA,ISO,ISS)
Bergmann glial cell differentiation  (IEA,ISO)
blood coagulation  (IEA,ISO)
branching involved in blood vessel morphogenesis  (IEA,ISO,ISS)
branching involved in prostate gland morphogenesis  (IEA,ISO)
branching involved in salivary gland morphogenesis  (IEA,ISO)
branching involved in ureteric bud morphogenesis  (IEA,ISO,ISS)
branching morphogenesis of an epithelial tube  (IEA,ISO,ISS)
bud outgrowth involved in lung branching  (IEA,ISO)
camera-type eye development  (IEA,ISO)
canonical Wnt signaling pathway  (IEA,ISO)
CD4-positive or CD8-positive, alpha-beta T cell lineage commitment  (IDA,IEA)
cell development  (IEA,ISO,ISS)
cell fate commitment  (IEA,ISO)
cell fate specification  (IBA,IEA,ISO,ISS)
cell migration  (IEA,ISO)
cell population proliferation  (IEA,ISO)
cell proliferation in external granule layer  (IEA,ISO)
cell-cell signaling  (IEA,ISO,ISS)
cellular response to lithium ion  (IEA,ISO)
central nervous system development  (IEA,ISO,ISS)
cerebellar granule cell precursor proliferation  (IEA,ISO,ISS)
commissural neuron axon guidance  (ISO)
determination of left/right asymmetry in lateral mesoderm  (IEA,ISS)
determination of left/right symmetry  (IEA,ISO)
developmental growth  (IEA,ISO)
digestive tract mesoderm development  (ISO)
digestive tract morphogenesis  (IEA,ISO)
dopaminergic neuron differentiation  (TAS)
dorsal/ventral neural tube patterning  (IEA,ISO)
dorsal/ventral pattern formation  (IEA,ISO,ISS)
ectoderm development  (IEA,ISO)
embryonic digestive tract morphogenesis  (IEA,ISO)
embryonic digit morphogenesis  (IEA,ISO,ISS)
embryonic foregut morphogenesis  (IEA,ISO)
embryonic forelimb morphogenesis  (IEA,ISO)
embryonic hindlimb morphogenesis  (IEA,ISO)
embryonic limb morphogenesis  (IEA,ISO,ISS)
embryonic morphogenesis  (IEA,ISO)
embryonic organ development  (IEA,ISO)
embryonic pattern specification  (TAS)
embryonic skeletal system development  (IEA,ISO)
endocytosis  (IEA,ISO)
epithelial cell proliferation  (IEA,ISO)
epithelial cell proliferation involved in prostate gland development  (IEA,ISO)
epithelial cell proliferation involved in salivary gland morphogenesis  (IEA,ISO)
epithelial tube branching involved in lung morphogenesis  (IEA,ISO)
epithelial-mesenchymal cell signaling  (IEA,ISO)
epithelial-mesenchymal signaling involved in prostate gland development  (IDA,IEA)
establishment of cell polarity  (IEA)
establishment of epithelial cell polarity  (IEA,ISO)
forebrain development  (IEA,ISO,ISS)
forebrain regionalization  (IEA,ISO)
formation of anatomical boundary  (IEA,ISO)
fungiform papilla development  (ISO)
fungiform papilla formation  (ISO)
fungiform papilla morphogenesis  (ISO)
gene expression  (IEA)
hair follicle development  (IEA,ISO)
hair follicle morphogenesis  (IEA,ISO)
heart development  (IEA,ISO,ISS)
heart looping  (IEA,ISO,ISS)
hindbrain development  (IEA,ISO,ISS)
hindgut morphogenesis  (IEA,ISO)
inner ear development  (IEA,ISO)
intein-mediated protein splicing  (IEA)
intermediate filament organization  (IEA,ISO)
kidney development  (IEA,ISO)
left lung development  (IEA,ISO)
limb bud formation  (IEA,ISO)
limb development  (IEA,ISO)
liver regeneration  (ISO)
lung development  (IEA,ISO,ISS)
lung epithelium development  (IEA,ISO)
lung lobe morphogenesis  (IEA,ISO)
lung morphogenesis  (IEA,ISO)
lung-associated mesenchyme development  (IEA,ISO)
lymphoid progenitor cell differentiation  (IEA,IMP)
male genitalia development  (IEA,ISO,ISS)
male genitalia morphogenesis  (ISO)
mesenchymal cell apoptotic process  (IEA,ISO)
mesenchymal cell proliferation  (IEA,ISO)
mesenchymal cell proliferation involved in lung development  (IEA,ISO)
mesenchymal smoothened signaling pathway involved in prostate gland development  (IEA,ISO)
metanephric collecting duct development  (IEP)
metanephric mesenchymal cell proliferation involved in metanephros development  (IEA,ISS)
metanephros development  (IEA,ISS)
midbrain development  (IEA,ISO,ISS)
myoblast differentiation  (IEA,ISO)
myotube differentiation  (IEA,ISO)
negative regulation of alpha-beta T cell differentiation  (IEA,ISO)
negative regulation of apoptotic process  (IEA,ISO,ISS)
negative regulation of canonical Wnt signaling pathway  (IEA,ISO)
negative regulation of cell differentiation  (ISS)
negative regulation of cell migration  (IEA,ISO,ISS)
negative regulation of cholesterol efflux  (IEA,ISS)
negative regulation of dopaminergic neuron differentiation  (IEA)
negative regulation of gene expression  (IEA)
negative regulation of kidney smooth muscle cell differentiation  (IEA,ISS)
negative regulation of mesenchymal cell apoptotic process  (IEA,ISO)
negative regulation of neuron death  (ISO)
negative regulation of neuron differentiation  (IEA,ISO)
negative regulation of proteasomal ubiquitin-dependent protein catabolic process  (IEA,ISO)
negative regulation of protein binding  (ISO)
negative regulation of protein catabolic process  (IEA,ISO)
negative regulation of T cell differentiation in thymus  (IEA,ISO)
negative regulation of T cell proliferation  (IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IEA,ISO,ISS)
negative regulation of transcription elongation by RNA polymerase II  (IEA,ISO)
negative regulation of ureter smooth muscle cell differentiation  (IEA,ISS)
negative regulation of Wnt signaling pathway  (IEA,ISO)
negative thymic T cell selection  (IEA,ISS)
neural crest cell migration  (IEA,ISO,ISS)
neural tube formation  (ISO)
neuroblast proliferation  (IEA,ISO,ISS)
neuron differentiation  (IEA,ISO)
neuron fate commitment  (IEA,ISO,ISS)
odontogenesis  (IEA,ISO)
odontogenesis of dentin-containing tooth  (IEA,ISO)
oligodendrocyte development  (IEA,ISO)
oligodendrocyte differentiation  (IBA,IEA,ISO)
osteoblast development  (IEA,ISO)
pancreas development  (IEA,ISO)
pattern specification process  (IEA,ISO,ISS)
polarity specification of anterior/posterior axis  (IEA,ISS)
positive regulation of alpha-beta T cell differentiation  (IEA,ISS)
positive regulation of astrocyte differentiation  (IEA,ISO)
positive regulation of cell division  (IDA)
positive regulation of cell population proliferation  (IDA,IEA,ISO,ISS)
positive regulation of cerebellar granule cell precursor proliferation  (IEA,ISO)
positive regulation of DNA-templated transcription  (IDA,IEA,ISO)
positive regulation of endothelial cell chemotaxis  (ISO)
positive regulation of epithelial cell proliferation  (IEA,ISO)
positive regulation of epithelial cell proliferation involved in prostate gland development  (IEA,ISO)
positive regulation of gene expression  (IEA,ISO)
positive regulation of hh target transcription factor activity  (IEA,ISO,ISS)
positive regulation of immature T cell proliferation in thymus  (IEA,ISS)
positive regulation of kidney smooth muscle cell differentiation  (IEA,ISS)
positive regulation of mesenchymal cell proliferation  (IEA,ISO)
positive regulation of mesenchymal cell proliferation involved in ureter development  (IEA,ISS)
positive regulation of neuroblast proliferation  (IEA,ISO)
positive regulation of neuron differentiation  (ISO)
positive regulation of neurotrophin production  (ISO)
positive regulation of oligodendrocyte differentiation  (IEA,ISO)
positive regulation of oligodendrocyte progenitor proliferation  (ISO)
positive regulation of penile erection  (ISO)
positive regulation of photoreceptor cell differentiation  (ISO)
positive regulation of protein import into nucleus  (IEA,ISO)
positive regulation of sclerotome development  (IDA)
positive regulation of skeletal muscle cell proliferation  (IEA,ISO)
positive regulation of skeletal muscle tissue development  (IEA,ISO)
positive regulation of smoothened signaling pathway  (IDA,IEA,ISS)
positive regulation of sprouting angiogenesis  (ISO)
positive regulation of striated muscle cell differentiation  (IEA,ISO)
positive regulation of T cell differentiation in thymus  (IEA,ISS)
positive regulation of transcription by RNA polymerase II  (IEA,ISO,ISS)
positive regulation of ureter smooth muscle cell differentiation  (IEA,ISS)
positive regulation of Wnt signaling pathway  (IEA,ISO)
positive thymic T cell selection  (IEA,ISS)
primary prostatic bud elongation  (IEA,ISO)
prostate epithelial cord elongation  (IEA,ISO)
prostate gland development  (IEA,ISO,ISS)
prostatic bud formation  (ISO)
protein autoprocessing  (IEA)
protein import into nucleus  (IEA,ISO)
protein localization to nucleus  (IEA,ISO)
proteolysis  (IEA)
regulation of cell population proliferation  (ISO,ISS)
regulation of DNA-templated transcription  (IEA,ISO)
regulation of epithelial cell differentiation  (ISO)
regulation of epithelial cell proliferation involved in prostate gland development  (IEA,ISO)
regulation of gene expression  (IBA,IEA,ISO)
regulation of glial cell proliferation  (IEA,ISO)
regulation of mesenchymal cell proliferation involved in prostate gland development  (IEA,ISO)
regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry  (NAS)
regulation of odontogenesis  (IEA,ISS)
regulation of prostatic bud formation  (IEA,ISO)
regulation of protein localization to nucleus  (IDA)
regulation of proteolysis  (IEA,ISO,ISS)
regulation of stem cell proliferation  (IEA,ISO)
respiratory tube development  (IEA,ISO)
response to axon injury  (ISO)
response to estradiol  (ISO)
response to ethanol  (ISO)
response to hypoxia  (ISO)
response to organonitrogen compound  (ISO)
response to retinoic acid  (ISO)
right lung development  (IEA,ISO)
roof of mouth development  (IEA,ISO)
salivary gland cavitation  (IEA,ISO)
self proteolysis  (IEA,ISS)
skeletal muscle cell proliferation  (IEA,ISO)
skeletal muscle fiber differentiation  (IEA,ISO)
skeletal muscle tissue development  (IEA,ISO)
skin development  (IEA,ISO)
smooth muscle tissue development  (IEP)
smoothened signaling pathway  (IBA,IDA,IEA,IEP,ISO,ISS)
smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation  (IEA,ISO)
somite development  (IEA,ISS)
spinal cord dorsal/ventral patterning  (IEA,ISO)
spinal cord motor neuron differentiation  (IEA,ISO)
stem cell development  (IEA,ISS)
stem cell proliferation  (IEA,ISO)
striated muscle cell differentiation  (IEA,ISO)
striated muscle tissue development  (IEA,ISO)
system development  (IEA)
T cell differentiation in thymus  (IEA,ISO,ISS)
T cell proliferation  (IEA,ISO)
telencephalon regionalization  (IEA,ISO)
thalamus development  (IEA,ISO)
thymus development  (IEA,ISS)
thyroid gland development  (IEA,ISO)
tongue development  (ISO)
tongue morphogenesis  (ISO)
trachea development  (IEA,ISO)
trachea morphogenesis  (IEA,ISO)
tracheoesophageal septum formation  (IEA,ISO)
trunk neural crest cell migration  (IEA,ISO)
vasculature development  (IEA,ISO)
vasculogenesis  (IEA,ISO,ISS)
ventral midline development  (TAS)
ventral spinal cord interneuron specification  (ISO)
zona limitans intrathalamica formation  (ISO)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
1-5 finger syndactyly  (IAGP)
6 metacarpals  (IAGP)
Abnormal brainstem morphology  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal heart rate variability  (IAGP)
Abnormal hypothalamus physiology  (IAGP)
Abnormal midbrain morphology  (IAGP)
Abnormal morphology of the olfactory bulb  (IAGP)
Abnormal nasopharynx morphology  (IAGP)
Abnormal rib morphology  (IAGP)
Abnormal septum pellucidum morphology  (IAGP)
Abnormal vertebral morphology  (IAGP)
Abnormality of chromosome segregation  (IAGP)
Abnormality of fibula morphology  (IAGP)
Abnormality of the autonomic nervous system  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the scaphoid  (IAGP)
Abnormality of the trapezium  (IAGP)
Abnormality of vision  (IAGP)
Absent speech  (IAGP)
Agenesis of corpus callosum  (IAGP)
Ambiguous genitalia  (IAGP)
Anophthalmia  (IAGP)
Anosmia  (IAGP)
Anterior hypopituitarism  (IAGP)
Anteriorly placed anus  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Apathy  (IAGP)
Aplasia of the 1st metacarpal  (IAGP)
Aplasia of the falx cerebri  (IAGP)
Aplasia/Hypoplasia of the radius  (IAGP)
Aplasia/Hypoplasia of the thumb  (IAGP)
Aplasia/Hypoplasia of the tibia  (IAGP)
Aspiration pneumonia  (IAGP)
Asthma  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bifid uvula  (IAGP)
Bilateral microphthalmos  (IAGP)
Camptodactyly of finger  (IAGP)
Central apnea  (IAGP)
Central diabetes insipidus  (IAGP)
Central hypothyroidism  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Choanal atresia  (IAGP)
Chorioretinal coloboma  (IAGP)
Chronic lung disease  (IAGP)
Cleft lip  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Coarctation of aorta  (IAGP)
Coloboma  (IAGP)
Constipation  (IAGP)
Cyclopia  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Depressed nasal bridge  (IAGP)
Depressed nasal ridge  (IAGP)
Depression  (IAGP)
Deviation of the hand or of fingers of the hand  (IAGP)
Diabetes insipidus  (IAGP)
Duodenal atresia  (IAGP)
Dysphagia  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Ethmoidal encephalocele  (IAGP)
Expressive language delay  (IAGP)
Failure to thrive  (IAGP)
Flexion contracture  (IAGP)
Foot polydactyly  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hand polydactyly  (IAGP)
Hemangioma  (IAGP)
High palate  (IAGP)
Hip dislocation  (IAGP)
Holoprosencephaly  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the pons  (IAGP)
Hypotelorism  (IAGP)
Hypothyroidism  (IAGP)
Impulsivity  (IAGP)
Inability to walk  (IAGP)
Infantile axial hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intrauterine growth retardation  (IAGP)
Iris coloboma  (IAGP)
Irritability  (IAGP)
Lethargy  (IAGP)
Limb dystonia  (IAGP)
Limitation of joint mobility  (IAGP)
Macrocephaly  (IAGP)
Malar flattening  (IAGP)
Maternal diabetes  (IAGP)
Median cleft lip  (IAGP)
Megalencephaly  (IAGP)
Microcephaly  (IAGP)
Microphthalmia  (IAGP)
Midface retrusion  (IAGP)
Midnasal stenosis  (IAGP)
Morphological abnormality of the gastrointestinal tract  (IAGP)
Narrow nasal bridge  (IAGP)
Neural tube defect  (IAGP)
Oral cleft  (IAGP)
Oromotor apraxia  (IAGP)
Panhypopituitarism  (IAGP)
Partial agenesis of the corpus callosum  (IAGP)
Patellar aplasia  (IAGP)
Perisylvian polymicrogyria  (IAGP)
Poor speech  (IAGP)
Poor suck  (IAGP)
Precocious puberty  (IAGP)
Premature birth  (IAGP)
Proboscis  (IAGP)
Prominent median palatal raphe  (IAGP)
Proptosis  (IAGP)
Pyriform aperture stenosis  (IAGP)
Renal agenesis  (IAGP)
Rhombencephalosynapsis  (IAGP)
Schizencephaly  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Septo-optic dysplasia  (IAGP)
Short attention span  (IAGP)
Short columella  (IAGP)
Short nose  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Short tibia  (IAGP)
Single naris  (IAGP)
Sleep-wake cycle disturbance  (IAGP)
Solitary median maxillary central incisor  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Strabismus  (IAGP)
Synostosis of carpal bones  (IAGP)
Temperature instability  (IAGP)
Tented upper lip vermilion  (IAGP)
Tetralogy of Fallot  (IAGP)
Toe syndactyly  (IAGP)
Torus palatinus  (IAGP)
Triphalangeal thumb  (IAGP)
Typified by incomplete penetrance  (IAGP)
Variable expressivity  (IAGP)
Ventriculomegaly  (IAGP)
Vomiting  (IAGP)

References - curated
# Reference Title Reference Citation
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3. A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency. Al-Qattan MM, etal., Am J Med Genet A. 2012 Oct;158A(10):2610-5. doi: 10.1002/ajmg.a.35584. Epub 2012 Aug 17.
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6. Fetal ethanol exposure activates protein kinase A and impairs Shh expression in prechordal mesendoderm cells in the pathogenesis of holoprosencephaly. Aoto K, etal., Birth Defects Res A Clin Mol Teratol. 2008 Apr;82(4):224-31. doi: 10.1002/bdra.20447.
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14. Abnormal Sonic hedgehog signaling in the lung of rats with esophageal atresia induced by adriamycin. Fragoso AC, etal., Pediatr Res. 2014 Oct;76(4):355-62. doi: 10.1038/pr.2014.105. Epub 2014 Jul 8.
15. A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb. Furniss D, etal., Hum Mol Genet. 2008 Aug 15;17(16):2417-23. doi: 10.1093/hmg/ddn141. Epub 2008 May 7.
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17. Notochord anomalies in the adriamycin rat model: A morphologic and molecular basis for the VACTERL association. Gillick J, etal., J Pediatr Surg. 2003 Mar;38(3):469-73; discussion 469-73.
18. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
19. Correlation Between Hedgehog (Hh) Protein Family and Brain-Derived Neurotrophic Factor (BDNF) in Autism Spectrum Disorder (ASD). Halepoto DM, etal., J Coll Physicians Surg Pak. 2015 Dec;25(12):882-5. doi: 12.2015/JCPSP.882885.
20. Expression of sonic hedgehog regulates morphological changes of rat developing cerebellum in hypothyroidism. Hasebe M, etal., J Toxicol Sci. 2008 Oct;33(4):473-7.
21. Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly. Heussler HS, etal., Arch Dis Child. 2002 Apr;86(4):293-6.
22. Left cardiac isomerism in the Sonic hedgehog null mouse. Hildreth V, etal., J Anat. 2009 Jun;214(6):894-904. doi: 10.1111/j.1469-7580.2009.01087.x.
23. Hypermethylation of SHH in the pathogenesis of congenital anorectal malformations. Huang Y, etal., J Pediatr Surg. 2014 Sep;49(9):1400-4. doi: 10.1016/j.jpedsurg.2014.03.007.
24. Hypoxia-induced compensatory effect as related to Shh and HIF-1alpha in ischemia embryo rat heart. Hwang JM, etal., Mol Cell Biochem. 2008 Apr;311(1-2):179-87. Epub 2008 Jan 29.
25. Bone marrow-derived mesenchymal stem cells expressing the Shh transgene promotes functional recovery after spinal cord injury in rats. Jia Y, etal., Neurosci Lett. 2014 Jun 24;573:46-51. doi: 10.1016/j.neulet.2014.05.010. Epub 2014 May 15.
26. Sonic hedgehog (SHH) and glioblastoma-2 (Gli-2) expressions are associated with poor jaundice-free survival in biliary atresia. Jung HY, etal., J Pediatr Surg. 2015 Mar;50(3):371-6. doi: 10.1016/j.jpedsurg.2014.08.025. Epub 2014 Dec 20.
27. Replicated anterior zeugopod (raz): a polydactylous mouse mutant with lowered Shh signaling in the limb bud. Krebs O, etal., Development. 2003 Dec;130(24):6037-47.
28. Expression of hedgehog signal pathway in articular cartilage is associated with the severity of cartilage damage in rats with adjuvant-induced arthritis. Li R, etal., J Inflamm (Lond). 2015 Mar 28;12:24. doi: 10.1186/s12950-015-0072-5. eCollection 2015.
29. The role of the sonic hedgehog signaling pathway in early brain injury after experimental subarachnoid hemorrhage in rats. Li T, etal., Neurosci Lett. 2013 Sep 27;552:81-6. doi: 10.1016/j.neulet.2013.07.042. Epub 2013 Aug 7.
30. Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly. Maity T, etal., Proc Natl Acad Sci U S A. 2005 Nov 22;102(47):17026-31. Epub 2005 Nov 10.
31. Sonic hedgehog, BMP4, and Hox genes in the development of anorectal malformations in Ethylenethiourea-exposed fetal rats. Mandhan P, etal., J Pediatr Surg. 2006 Dec;41(12):2041-5.
32. Attenuation of experimental autoimmune encephalomyelitis and nonimmune demyelination by IFN-beta plus vitamin B12: treatment to modify notch-1/sonic hedgehog balance. Mastronardi FG, etal., J Immunol. 2004 May 15;172(10):6418-26.
33. The amount of sonic hedgehog in multiple sclerosis white matter is decreased and cleavage to the signaling peptide is deficient. Mastronardi FG, etal., Mult Scler. 2003 Aug;9(4):362-71.
34. Frequent deregulations in the hedgehog signaling network and cross-talks with the epidermal growth factor receptor pathway involved in cancer progression and targeted therapies. Mimeault M and Batra SK, Pharmacol Rev. 2010 Sep;62(3):497-524.
35. Pituitary adenylate cyclase-activating polypeptide and sonic hedgehog interact to control cerebellar granule precursor cell proliferation. Nicot A, etal., J Neurosci 2002 Nov 1;22(21):9244-54.
36. An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. Niedermaier M, etal., J Clin Invest. 2005 Apr;115(4):900-9.
37. Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. Odent S, etal., Hum Mol Genet. 1999 Sep;8(9):1683-9.
38. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
39. Basal cell carcinomas in mice overexpressing sonic hedgehog. Oro AE, etal., Science. 1997 May 2;276(5313):817-21.
40. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
41. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
42. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
43. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
44. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
45. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Roessler E, etal., Nat Genet. 1996 Nov;14(3):357-60.
46. Defining the molecular pathologies in cloaca malformation: similarities between mouse and human. Runck LA, etal., Dis Model Mech. 2014 Apr;7(4):483-93. doi: 10.1242/dmm.014530. Epub 2014 Feb 13.
47. Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb. Sagai T, etal., Development. 2005 Feb;132(4):797-803.
48. Temporal and spatial expression of Pax9 and Sonic hedgehog during development of normal mouse palates and cleft palates in TGF-beta3 null embryos. Sasaki Y, etal., Arch Oral Biol. 2007 Mar;52(3):260-7. Epub 2006 Nov 13.
49. Activation of the sonic hedgehog pathway and its prognostic impact in patients with gastric cancer. Saze Z, etal., Dig Surg. 2012;29(2):115-23. doi: 10.1159/000336949. Epub 2012 Mar 27.
50. Differential expression of sonic hedgehog immunoreactivity during lesion evolution in autoimmune encephalomyelitis. Seifert T, etal., J Neuropathol Exp Neurol. 2005 May;64(5):404-11.
51. Identification of sonic hedgehog as a candidate gene responsible for the polydactylous mouse mutant Sasquatch. Sharpe J, etal., Curr Biol. 1999 Jan 28;9(2):97-100.
52. Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer. Sun M, etal., J Med Genet. 2008 Sep;45(9):589-95. doi: 10.1136/jmg.2008.057646. Epub 2008 Apr 16.
53. Expression and clinical significance of hedgehog signaling pathway related components in colorectal cancer. Wang H, etal., Asian Pac J Cancer Prev. 2012;13(5):2319-24. doi: 10.7314/apjcp.2012.13.5.2319.
54. Paradoxical dysregulation of the neural stem cell pathway sonic hedgehog-Gli1 in autoimmune encephalomyelitis and multiple sclerosis. Wang Y, etal., Ann Neurol. 2008 Oct;64(4):417-27. doi: 10.1002/ana.21457.
55. A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb. Wieczorek D, etal., Hum Mutat. 2010 Jan;31(1):81-9. doi: 10.1002/humu.21142.
56. Pancreatic cancer: molecular pathogenesis and new therapeutic targets. Wong HH and Lemoine NR, Nat Rev Gastroenterol Hepatol. 2009 Jul;6(7):412-22. Epub 2009 Jun 9.
57. Neuroprotective effect of up-regulated Sonic hedgehog in retinal ganglion cells following chronic ocular hypertension. Wu J, etal., Invest Ophthalmol Vis Sci. 2010 Jan 13.
58. Expressions of sonic hedgehog, patched, smoothened and Gli-1 in human intestinal stromal tumors and their correlation with prognosis. Yoshizaki A, etal., World J Gastroenterol. 2006 Sep 21;12(35):5687-91. doi: 10.3748/wjg.v12.i35.5687.
59. Down-regulation of SHH/BMP4 signalling in human anorectal malformations. Zhang J, etal., J Int Med Res. 2009 Nov-Dec;37(6):1842-50.
60. Lentivirus-mediated delivery of sonic hedgehog into the striatum stimulates neuroregeneration in a rat model of Parkinson disease. Zhang Y, etal., Neurol Sci. 2014 Dec;35(12):1931-40. doi: 10.1007/s10072-014-1866-6. Epub 2014 Jul 17.
61. [Expression of sonic hedgehog signaling pathw ay and its inhibition by cyclopamine in rat liver with chronic fluorosis]. Zhao L, etal., Zhonghua Bing Li Xue Za Zhi. 2014 Dec;43(12):814-9.
62. Sonic hedgehog is a novel tubule-derived growth factor for interstitial fibroblasts after kidney injury. Zhou D, etal., J Am Soc Nephrol. 2014 Oct;25(10):2187-200. doi: 10.1681/ASN.2013080893. Epub 2014 Apr 17.
Additional References at PubMed
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PMID:31072042   PMID:31080015   PMID:31087761   PMID:31092427   PMID:31127104   PMID:31147463   PMID:31163988   PMID:31167533   PMID:31253779   PMID:31279575   PMID:31364136   PMID:31395945  
PMID:31411078   PMID:31442607   PMID:31445709   PMID:31465935   PMID:31503551   PMID:31590919   PMID:31634481   PMID:31638600   PMID:31647783   PMID:31692471   PMID:31702025   PMID:31744214  
PMID:31782614   PMID:31851932   PMID:32030915   PMID:32044884   PMID:32061952   PMID:32084300   PMID:32130032   PMID:32186749   PMID:32358063   PMID:32377291   PMID:32403133   PMID:32404987  
PMID:32440000   PMID:32526259   PMID:32540122   PMID:32542401   PMID:32575925   PMID:32576942   PMID:32670287   PMID:32682910   PMID:32814794   PMID:32929330   PMID:32939873   PMID:32957513  
PMID:33000351   PMID:33047712   PMID:33070227   PMID:33199907   PMID:33206287   PMID:33218077   PMID:33291316   PMID:33390589   PMID:33418093   PMID:33438046   PMID:33589929   PMID:33599359  
PMID:33630857   PMID:33741928   PMID:33749384   PMID:33817723   PMID:33863273   PMID:33885911   PMID:33906647   PMID:33948856   PMID:34112694   PMID:34129846   PMID:34260267   PMID:34275739  
PMID:34290270   PMID:34314869   PMID:34371011   PMID:34399854   PMID:34440799   PMID:34576017   PMID:34667228   PMID:34732409   PMID:34830484   PMID:34845226   PMID:34887403   PMID:34944004  
PMID:35184473   PMID:35245826   PMID:35271396   PMID:35501487   PMID:35704688   PMID:35768071   PMID:35785032   PMID:35974013   PMID:36014865   PMID:36346167  


Comparative Map Data
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh387155,799,980 - 155,812,463 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl7155,799,980 - 155,812,463 (-)EnsemblGRCh38hg38GRCh38
GRCh377155,592,674 - 155,605,157 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367155,288,319 - 155,297,728 (-)NCBINCBI36Build 36hg18NCBI36
Build 347155,095,033 - 155,104,443NCBI
Celera7150,021,217 - 150,030,626 (-)NCBICelera
Cytogenetic Map7q36.3NCBI
HuRef7149,327,101 - 149,336,513 (-)NCBIHuRef
CHM1_17155,604,000 - 155,613,409 (-)NCBICHM1_1
T2T-CHM13v2.07156,983,127 - 156,995,607 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27154,827,119 - 154,836,528 (-)NCBI
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm39528,661,838 - 28,672,099 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl528,661,813 - 28,672,254 (-)EnsemblGRCm39 Ensembl
GRCm38528,456,840 - 28,467,101 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl528,456,815 - 28,467,256 (-)EnsemblGRCm38mm10GRCm38
MGSCv37528,783,380 - 28,793,641 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36528,787,627 - 28,797,875 (-)NCBIMGSCv36mm8
Celera525,997,895 - 26,008,156 (-)NCBICelera
Cytogenetic Map5B1NCBI
cM Map514.39NCBI
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers