SHH | ENSG00000164690 | NCBI 6469

Details for: SHH

Gene ID: 6469

Symbol: SHH

Ensembl ID: ENSG00000164690

Description: sonic hedgehog signaling molecule

Associated with

Activation of smo
(R-HSA-5635838)
Class b/2 (secretin family receptors)
(R-HSA-373080)
Developmental biology
(R-HSA-1266738)
Disease
(R-HSA-1643685)
Diseases of signal transduction by growth factor receptors and second messengers
(R-HSA-5663202)
Formation of axial mesoderm
(R-HSA-9796292)
Formation of lateral plate mesoderm
(R-HSA-9758920)
Gastrulation
(R-HSA-9758941)
Gpcr ligand binding
(R-HSA-500792)
Hedgehog 'on' state
(R-HSA-5632684)
Hedgehog ligand biogenesis
(R-HSA-5358346)
Hhat g278v doesn't palmitoylate hh-np
(R-HSA-5658034)
Hh mutants abrogate ligand secretion
(R-HSA-5387390)
Hh mutants are degraded by erad
(R-HSA-5362768)
Ligand-receptor interactions
(R-HSA-5632681)
Release of hh-np from the secreting cell
(R-HSA-5362798)
Signaling by gpcr
(R-HSA-372790)
Signaling by hedgehog
(R-HSA-5358351)
Signal transduction
(R-HSA-162582)
Androgen metabolic process
(GO:0008209)
Axon guidance
(GO:0007411)
Blood coagulation
(GO:0007596)
Branching involved in blood vessel morphogenesis
(GO:0001569)
Branching involved in ureteric bud morphogenesis
(GO:0001658)
Calcium ion binding
(GO:0005509)
Cell-cell signaling
(GO:0007267)
Cell fate specification
(GO:0001708)
Central nervous system development
(GO:0007417)
Cerebellar granule cell precursor proliferation
(GO:0021930)
Cholesterol-protein transferase activity
(GO:0140853)
Determination of left/right asymmetry in lateral mesoderm
(GO:0003140)
Dorsal/ventral neural tube patterning
(GO:0021904)
Dorsal/ventral pattern formation
(GO:0009953)
Ectoderm development
(GO:0007398)
Embryonic limb morphogenesis
(GO:0030326)
Embryonic pattern specification
(GO:0009880)
Endocytosis
(GO:0006897)
Endopeptidase activity
(GO:0004175)
Forebrain development
(GO:0030900)
Glycosaminoglycan binding
(GO:0005539)
Hair follicle morphogenesis
(GO:0031069)
Heart development
(GO:0007507)
Heart looping
(GO:0001947)
Hindbrain development
(GO:0030902)
Hindgut morphogenesis
(GO:0007442)
Intein-mediated protein splicing
(GO:0016539)
Laminin-1 binding
(GO:0043237)
Lung development
(GO:0030324)
Lymphoid progenitor cell differentiation
(GO:0002320)
Male genitalia development
(GO:0030539)
Metanephros development
(GO:0001656)
Midbrain development
(GO:0030901)
Morphogen activity
(GO:0016015)
Negative regulation of cell migration
(GO:0030336)
Negative regulation of gene expression
(GO:0010629)
Negative regulation of proteasomal ubiquitin-dependent protein catabolic process
(GO:0032435)
Negative regulation of t cell differentiation in thymus
(GO:0033085)
Negative regulation of transcription by rna polymerase ii
(GO:0000122)
Neural crest cell migration
(GO:0001755)
Neuroblast proliferation
(GO:0007405)
Oligodendrocyte development
(GO:0014003)
Osteoblast development
(GO:0002076)
Pancreas development
(GO:0031016)
Patched binding
(GO:0005113)
Pattern specification process
(GO:0007389)
Peptidase activity
(GO:0008233)
Polarity specification of anterior/posterior axis
(GO:0009949)
Positive regulation of cell population proliferation
(GO:0008284)
Positive regulation of cerebellar granule cell precursor proliferation
(GO:0021940)
Positive regulation of gene expression
(GO:0010628)
Positive regulation of immature t cell proliferation in thymus
(GO:0033092)
Positive regulation of neuroblast proliferation
(GO:0002052)
Positive regulation of skeletal muscle cell proliferation
(GO:0014858)
Positive regulation of t cell differentiation in thymus
(GO:0033089)
Positive regulation of wnt signaling pathway
(GO:0030177)
Prostate gland development
(GO:0030850)
Protein autoprocessing
(GO:0016540)
Protein binding
(GO:0005515)
Protein import into nucleus
(GO:0006606)
Regulation of gene expression
(GO:0010468)
Regulation of proteolysis
(GO:0030162)
Skeletal muscle cell proliferation
(GO:0014856)
Smoothened signaling pathway
(GO:0007224)
Spinal cord dorsal/ventral patterning
(GO:0021513)
Spinal cord motor neuron differentiation
(GO:0021522)
Striated muscle tissue development
(GO:0014706)
T cell differentiation in thymus
(GO:0033077)
Telencephalon regionalization
(GO:0021978)
Thalamus development
(GO:0021794)
Thyroid gland development
(GO:0030878)
Vasculogenesis
(GO:0001570)
Ventral midline development
(GO:0007418)
Zinc ion binding
(GO:0008270)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 7.0418
Cell Significance Index: 365.8000
Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 1.5998
Cell Significance Index: 196.7100
Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 1.3090
Cell Significance Index: 28.3600
Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 1.2437
Cell Significance Index: 224.2100
Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 1.0514
Cell Significance Index: 200.0900
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.5446
Cell Significance Index: 491.7000
Cell Name: large intestine goblet cell (CL1000320)
Fold Change: 0.5223
Cell Significance Index: 5.6600
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.4111
Cell Significance Index: 24.6800
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.4093
Cell Significance Index: 18.5500
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.4087
Cell Significance Index: 44.4600
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.4018
Cell Significance Index: 14.1200
Cell Name: Purkinje cell (CL0000121)
Fold Change: 0.3882
Cell Significance Index: 8.5000
Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 0.3823
Cell Significance Index: 10.2500
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.3700
Cell Significance Index: 10.6600
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.3573
Cell Significance Index: 58.1200
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 0.2495
Cell Significance Index: 6.7900
Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.2221
Cell Significance Index: 21.9700
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.2085
Cell Significance Index: 14.4200
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.1797
Cell Significance Index: 1.8600
Cell Name: foveolar cell of stomach (CL0002179)
Fold Change: 0.1588
Cell Significance Index: 1.0400
Cell Name: hepatoblast (CL0005026)
Fold Change: 0.1296
Cell Significance Index: 2.1800
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.1208
Cell Significance Index: 23.9800
Cell Name: epithelial cell of pancreas (CL0000083)
Fold Change: 0.1135
Cell Significance Index: 1.8700
Cell Name: cell in vitro (CL0001034)
Fold Change: 0.0754
Cell Significance Index: 41.2000
Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.0553
Cell Significance Index: 19.8300
Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.0439
Cell Significance Index: 30.3700
Cell Name: umbrella cell of urothelium (CL4030056)
Fold Change: 0.0261
Cell Significance Index: 0.2400
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.0061
Cell Significance Index: 0.1300
Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: 0.0001
Cell Significance Index: 0.0900
Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.0004
Cell Significance Index: -0.0100
Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: -0.0011
Cell Significance Index: -0.5000
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: -0.0037
Cell Significance Index: -7.0300
Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0045
Cell Significance Index: -0.4600
Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0066
Cell Significance Index: -4.8200
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0086
Cell Significance Index: -2.4800
Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0089
Cell Significance Index: -6.6100
Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: -0.0091
Cell Significance Index: -0.2900
Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0099
Cell Significance Index: -5.5900
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: -0.0147
Cell Significance Index: -2.9400
Cell Name: taste receptor cell (CL0000209)
Fold Change: -0.0155
Cell Significance Index: -0.1800
Cell Name: epithelial cell of uterus (CL0002149)
Fold Change: -0.0209
Cell Significance Index: -0.2900
Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.0250
Cell Significance Index: -2.9100
Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
Fold Change: -0.0272
Cell Significance Index: -0.3900
Cell Name: retinal ganglion cell (CL0000740)
Fold Change: -0.0303
Cell Significance Index: -0.2500
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0372
Cell Significance Index: -6.3600
Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.0379
Cell Significance Index: -2.3300
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0438
Cell Significance Index: -6.3600
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: -0.0439
Cell Significance Index: -6.0300
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.0457
Cell Significance Index: -5.2300
Cell Name: eukaryotic cell (CL0000255)
Fold Change: -0.0633
Cell Significance Index: -2.7500
Cell Name: centrilobular region hepatocyte (CL0019029)
Fold Change: -0.0744
Cell Significance Index: -1.2500
Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.0770
Cell Significance Index: -6.1000
Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: -0.0873
Cell Significance Index: -5.5000
Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.0938
Cell Significance Index: -6.3100
Cell Name: respiratory goblet cell (CL0002370)
Fold Change: -0.0962
Cell Significance Index: -0.9900
Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.0978
Cell Significance Index: -6.0100
Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: -0.1044
Cell Significance Index: -1.9300
Cell Name: midget ganglion cell of retina (CL4023188)
Fold Change: -0.1123
Cell Significance Index: -1.1700
Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.1158
Cell Significance Index: -5.1200
Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.1242
Cell Significance Index: -6.9700
Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: -0.1258
Cell Significance Index: -2.6700
Cell Name: paneth cell of colon (CL0009009)
Fold Change: -0.1288
Cell Significance Index: -1.9300
Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: -0.1336
Cell Significance Index: -5.0600
Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.1343
Cell Significance Index: -7.0500
Cell Name: sebum secreting cell (CL0000317)
Fold Change: -0.1349
Cell Significance Index: -9.5400
Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.1366
Cell Significance Index: -6.4200
Cell Name: BEST4+ enteroycte (CL4030026)
Fold Change: -0.1427
Cell Significance Index: -2.1500
Cell Name: stratified epithelial cell (CL0000079)
Fold Change: -0.1457
Cell Significance Index: -5.3500
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.1558
Cell Significance Index: -5.1000
Cell Name: radial glial cell (CL0000681)
Fold Change: -0.1584
Cell Significance Index: -0.9400
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.1587
Cell Significance Index: -5.5600
Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: -0.1679
Cell Significance Index: -3.3200
Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: -0.1739
Cell Significance Index: -3.6300
Cell Name: periportal region hepatocyte (CL0019026)
Fold Change: -0.1795
Cell Significance Index: -2.6500
Cell Name: kidney epithelial cell (CL0002518)
Fold Change: -0.1864
Cell Significance Index: -5.4900
Cell Name: keratinocyte (CL0000312)
Fold Change: -0.1882
Cell Significance Index: -4.7000
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.1893
Cell Significance Index: -6.0300
Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: -0.1931
Cell Significance Index: -6.7100
Cell Name: fibroblast of dermis (CL0002551)
Fold Change: -0.2030
Cell Significance Index: -4.2500
Cell Name: cortical interneuron (CL0008031)
Fold Change: -0.2177
Cell Significance Index: -5.2200
Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: -0.2198
Cell Significance Index: -6.3000
Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: -0.2201
Cell Significance Index: -6.2800
Cell Name: type I muscle cell (CL0002211)
Fold Change: -0.2225
Cell Significance Index: -5.4300
Cell Name: neuron (CL0000540)
Fold Change: -0.2279
Cell Significance Index: -2.1600
Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
Fold Change: -0.2282
Cell Significance Index: -5.6900
Cell Name: epithelial cell (CL0000066)
Fold Change: -0.2342
Cell Significance Index: -2.4700
Cell Name: VIP GABAergic cortical interneuron (CL4023016)
Fold Change: -0.2386
Cell Significance Index: -4.7900
Cell Name: peg cell (CL4033014)
Fold Change: -0.2433
Cell Significance Index: -5.6200
Cell Name: granulosa cell (CL0000501)
Fold Change: -0.2447
Cell Significance Index: -6.4400
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: -0.2492
Cell Significance Index: -5.1700
Cell Name: ON midget ganglion cell (CL4033046)
Fold Change: -0.2520
Cell Significance Index: -3.1800
Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: -0.2541
Cell Significance Index: -5.1700
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.2580
Cell Significance Index: -6.8900
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: -0.2604
Cell Significance Index: -6.9700
Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: -0.2667
Cell Significance Index: -5.2500
Cell Name: erythrocyte (CL0000232)
Fold Change: -0.2700
Cell Significance Index: -6.8800
Cell Name: acinar cell (CL0000622)
Fold Change: -0.2810
Cell Significance Index: -3.5300
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: -0.2842
Cell Significance Index: -7.0900
Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
Fold Change: -0.2919
Cell Significance Index: -7.0700
Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: -0.2958
Cell Significance Index: -6.3900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

**Key Characteristics** 1. **High conservation**: SHH is highly conserved across species, with a high degree of sequence homology to its counterparts in other animals. 2. **Wide tissue expression**: SHH is expressed in a wide range of tissues, including the kidney, heart, brain, and pancreas. 3. **Signaling mechanism**: SHH signaling involves the interaction of the SHH protein with the Patched receptor, which triggers the activation of Smoothened, a G-protein coupled receptor. 4. **Regulation of cell proliferation and differentiation**: SHH regulates cell proliferation, differentiation, and survival in various tissues, including the kidney, heart, and brain. 5. **Disease association**: Abnormal SHH signaling has been implicated in various diseases, including cancer, neural tube defects, and cardiovascular disorders. **Pathways and Functions** 1. **Hedgehog signaling pathway**: SHH signaling involves the interaction of the SHH protein with the Patched receptor, which triggers the activation of Smoothened, a G-protein coupled receptor. 2. **Cell proliferation and differentiation**: SHH regulates cell proliferation, differentiation, and survival in various tissues, including the kidney, heart, and brain. 3. **Tissue patterning and organogenesis**: SHH plays a crucial role in the development and patterning of various tissues and organs, including the kidney, heart, and pancreas. 4. **Cancer and tumor suppression**: SHH has been implicated in cancer and tumor suppression, with aberrant SHH signaling contributing to the development of various cancers. 5. **Neural tube defects and cardiovascular disorders**: Abnormal SHH signaling has been implicated in the development of neural tube defects and cardiovascular disorders, including heart looping and cardiac endothelial cell development. **Clinical Significance** 1. **Cancer diagnosis and treatment**: SHH is a potential biomarker for cancer diagnosis and treatment, with aberrant SHH signaling contributing to the development of various cancers. 2. **Neural tube defects**: Abnormal SHH signaling has been implicated in the development of neural tube defects, including anencephaly and spina bifida. 3. **Cardiovascular disorders**: Abnormal SHH signaling has been implicated in the development of cardiovascular disorders, including heart looping and cardiac endothelial cell development. 4. **Developmental biology**: SHH plays a crucial role in the development and patterning of various tissues and organs, including the kidney, heart, and pancreas. 5. **Gene therapy and targeted therapy**: SHH has been identified as a potential target for gene therapy and targeted therapy in the treatment of various diseases, including cancer and cardiovascular disorders. In conclusion, the SHH gene is a crucial signaling molecule involved in various developmental and physiological processes in the human body. Abnormal SHH signaling has been implicated in various diseases, including cancer, neural tube defects, and cardiovascular disorders. Further research is needed to fully understand the role of SHH in human disease and to develop effective therapeutic strategies to target this gene.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

HHG-1

Genular Protein ID: 642424421

Symbol: SHH_HUMAN

Name: HHG-1

UniProtKB Accession Codes:

Q15465 A4D247 Q75MC9

Database IDs:

Citations:

PubMed ID: 7590746

Title: Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog.

PubMed ID: 7590746

DOI: 10.1006/geno.1995.1104

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

PubMed ID: 9593755

Title: Identification of a palmitic acid-modified form of human Sonic hedgehog.

PubMed ID: 9593755

DOI: 10.1074/jbc.273.22.14037

PubMed ID: 7720571

Title: Products, genetic linkage and limb patterning activity of a murine hedgehog gene.

PubMed ID: 7720571

DOI: 10.1242/dev.120.11.3339

PubMed ID: 12837695

Title: A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly.

PubMed ID: 12837695

DOI: 10.1093/hmg/ddg180

PubMed ID: 16335952

Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

PubMed ID: 16335952

DOI: 10.1021/pr0502065

PubMed ID: 18534984

Title: Hhat is a palmitoylacyltransferase with specificity for N-palmitoylation of Sonic Hedgehog.

PubMed ID: 18534984

DOI: 10.1074/jbc.m803901200

PubMed ID: 18417549

Title: Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.

PubMed ID: 18417549

DOI: 10.1136/jmg.2008.057646

PubMed ID: 19847792

Title: 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.

PubMed ID: 19847792

DOI: 10.1002/humu.21142

PubMed ID: 22902404

Title: Dispatched and scube mediate the efficient secretion of the cholesterol-modified hedgehog ligand.

PubMed ID: 22902404

DOI: 10.1016/j.celrep.2012.07.010

PubMed ID: 31875564

Title: Hedgehog Acyltransferase Promotes Uptake of Palmitoyl-CoA across the Endoplasmic Reticulum Membrane.

PubMed ID: 31875564

DOI: 10.1016/j.celrep.2019.11.110

PubMed ID: 22677548

Title: Scube/You activity mediates release of dually lipid-modified Hedgehog signal in soluble form.

PubMed ID: 22677548

DOI: 10.1101/gad.191866.112

PubMed ID: 23118222

Title: An emerging role of Sonic hedgehog shedding as a modulator of heparan sulfate interactions.

PubMed ID: 23118222

DOI: 10.1074/jbc.m112.356667

PubMed ID: 23154980

Title: Zebrafish genetics gets the Scube on Hedgehog secretion.

PubMed ID: 23154980

DOI: 10.1101/gad.207126.112

PubMed ID: 24522195

Title: Scube2 enhances proteolytic Shh processing from the surface of Shh-producing cells.

PubMed ID: 24522195

DOI: 10.1242/jcs.137695

PubMed ID: 24342078

Title: A new role for Hedgehogs in juxtacrine signaling.

PubMed ID: 24342078

DOI: 10.1016/j.mod.2013.12.002

PubMed ID: 24456159

Title: Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.

PubMed ID: 24456159

DOI: 10.1111/cge.12352

PubMed ID: 24965254

Title: ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers.

PubMed ID: 24965254

DOI: 10.1038/jhg.2014.50

PubMed ID: 24863049

Title: Primary cilium and sonic hedgehog signaling during neural tube patterning: role of GPCRs and second messengers.

PubMed ID: 24863049

DOI: 10.1002/dneu.22193

PubMed ID: 26875496

Title: Hedgehog receptor function during craniofacial development.

PubMed ID: 26875496

DOI: 10.1016/j.ydbio.2016.02.009

PubMed ID: 10753901

Title: Mapping sonic hedgehog-receptor interactions by steric interference.

PubMed ID: 10753901

DOI: 10.1074/jbc.275.15.10995

PubMed ID: 19561609

Title: The structure of SHH in complex with HHIP reveals a recognition role for the Shh pseudo active site in signaling.

PubMed ID: 19561609

DOI: 10.1038/nsmb.1632

PubMed ID: 20504762

Title: Hedgehog pathway antagonist 5E1 binds hedgehog at the pseudo-active site.

PubMed ID: 20504762

DOI: 10.1074/jbc.m110.112284

PubMed ID: 8896572

Title: Mutations in the human Sonic hedgehog gene cause holoprosencephaly.

PubMed ID: 8896572

DOI: 10.1038/ng1196-357

PubMed ID: 9302262

Title: Mutations in the C-terminal domain of Sonic hedgehog cause holoprosencephaly.

PubMed ID: 9302262

DOI: 10.1093/hmg/6.11.1847

PubMed ID: 10441331

Title: Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.

PubMed ID: 10441331

DOI: 10.1093/hmg/8.9.1683

PubMed ID: 10556296

Title: The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

PubMed ID: 10556296

DOI: 10.1093/hmg/8.13.2479

PubMed ID: 11471164

Title: SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.

PubMed ID: 11471164

DOI: 10.1002/1096-8628(20010722)102:1<1::aid-ajmg1336>3.0.co;2-u

PubMed ID: 11479728

Title: Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly.

PubMed ID: 11479728

DOI: 10.1007/s004390100537

PubMed ID: 12503095

Title: Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.

PubMed ID: 12503095

DOI: 10.1002/ajmg.a.10884

PubMed ID: 15103725

Title: Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog.

PubMed ID: 15103725

DOI: 10.1002/ajmg.a.20685

PubMed ID: 15107988

Title: Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation.

PubMed ID: 15107988

DOI: 10.1007/s00431-004-1459-0

PubMed ID: 15221788

Title: Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype-phenotype correlations.

PubMed ID: 15221788

DOI: 10.1002/humu.20056

PubMed ID: 15942952

Title: SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor.

PubMed ID: 15942952

DOI: 10.1002/ajmg.a.30624

PubMed ID: 15942953

Title: Single median maxillary central incisor, hypophyseal tumor, and SHH mutation.

PubMed ID: 15942953

DOI: 10.1002/ajmg.a.30625

PubMed ID: 16282375

Title: Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly.

PubMed ID: 16282375

DOI: 10.1073/pnas.0507848102

PubMed ID: 17001669

Title: Holoprosencephaly-like phenotype: clinical and genetic perspectives.

PubMed ID: 17001669

DOI: 10.1002/ajmg.a.31378

PubMed ID: 19603532

Title: The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.

PubMed ID: 19603532

DOI: 10.1002/humu.21090

Sequence Information:

Length: 462
Mass: 49607
Checksum: DD687AFA582A4749
Sequence:

MLLLARCLLL VLVSSLLVCS GLACGPGRGF GKRRHPKKLT PLAYKQFIPN VAEKTLGASG 
RYEGKISRNS ERFKELTPNY NPDIIFKDEE NTGADRLMTQ RCKDKLNALA ISVMNQWPGV 
KLRVTEGWDE DGHHSEESLH YEGRAVDITT SDRDRSKYGM LARLAVEAGF DWVYYESKAH 
IHCSVKAENS VAAKSGGCFP GSATVHLEQG GTKLVKDLSP GDRVLAADDQ GRLLYSDFLT 
FLDRDDGAKK VFYVIETREP RERLLLTAAH LLFVAPHNDS ATGEPEASSG SGPPSGGALG 
PRALFASRVR PGQRVYVVAE RDGDRRLLPA AVHSVTLSEE AAGAYAPLTA QGTILINRVL 
ASCYAVIEEH SWAHRAFAPF RLAHALLAAL APARTDRGGD SGGGDRGGGG GRVALTAPGA 
ADAPGAGATA GIHWYSQLLY QIGTWLLDSE ALHPLGMAVK SS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: SHH

Associated with

Cells (max top 100)

Other Information

Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog. PubMed ID: 7590746

The DNA sequence of human chromosome 7. PubMed ID: 12853948

Human chromosome 7: DNA sequence and biology. PubMed ID: 12690205

Identification of a palmitic acid-modified form of human Sonic hedgehog. PubMed ID: 9593755

Products, genetic linkage and limb patterning activity of a murine hedgehog gene. PubMed ID: 7720571

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. PubMed ID: 12837695

Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. PubMed ID: 16335952

Hhat is a palmitoylacyltransferase with specificity for N-palmitoylation of Sonic Hedgehog. PubMed ID: 18534984

Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer. PubMed ID: 18417549

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. PubMed ID: 19847792

Dispatched and scube mediate the efficient secretion of the cholesterol-modified hedgehog ligand. PubMed ID: 22902404

Hedgehog Acyltransferase Promotes Uptake of Palmitoyl-CoA across the Endoplasmic Reticulum Membrane. PubMed ID: 31875564

Scube/You activity mediates release of dually lipid-modified Hedgehog signal in soluble form. PubMed ID: 22677548

An emerging role of Sonic hedgehog shedding as a modulator of heparan sulfate interactions. PubMed ID: 23118222

Zebrafish genetics gets the Scube on Hedgehog secretion. PubMed ID: 23154980

Scube2 enhances proteolytic Shh processing from the surface of Shh-producing cells. PubMed ID: 24522195

A new role for Hedgehogs in juxtacrine signaling. PubMed ID: 24342078

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. PubMed ID: 24456159

ZRS 406A&gt;G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers. PubMed ID: 24965254

Primary cilium and sonic hedgehog signaling during neural tube patterning: role of GPCRs and second messengers. PubMed ID: 24863049

Hedgehog receptor function during craniofacial development. PubMed ID: 26875496

Mapping sonic hedgehog-receptor interactions by steric interference. PubMed ID: 10753901

The structure of SHH in complex with HHIP reveals a recognition role for the Shh pseudo active site in signaling. PubMed ID: 19561609

Hedgehog pathway antagonist 5E1 binds hedgehog at the pseudo-active site. PubMed ID: 20504762

Mutations in the human Sonic hedgehog gene cause holoprosencephaly. PubMed ID: 8896572

Mutations in the C-terminal domain of Sonic hedgehog cause holoprosencephaly. PubMed ID: 9302262

Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. PubMed ID: 10441331

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. PubMed ID: 10556296

SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature. PubMed ID: 11471164

Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly. PubMed ID: 11479728

Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. PubMed ID: 12503095

Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog. PubMed ID: 15103725

Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation. PubMed ID: 15107988

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype-phenotype correlations. PubMed ID: 15221788

SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor. PubMed ID: 15942952

Single median maxillary central incisor, hypophyseal tumor, and SHH mutation. PubMed ID: 15942953

Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly. PubMed ID: 16282375

Holoprosencephaly-like phenotype: clinical and genetic perspectives. PubMed ID: 17001669

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis. PubMed ID: 19603532