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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
7
Cytoband
q36.3
Chromosome location (bp)
155799980 - 155812463
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
The Structure section provides predicted structures from the Alphafold protein structure database and available experimental structures from Protein Data Bank (PDB).
In the Structure drop-down menu all experimental structures from PDB are available for selection and display. The structures are displayed using the NGL Viewer and can be zoomed-in and rotated either manually or by checking the Autorotate box. The Color scheme can be selected to show the residue index, chain name or confidence score (as B-factors and pLDDT score for experimental and predicted structures, respectively). The positions for available antigen sequences in the structure are shown if Antigens is turned to ON, and the Variants slider can be used to show the positions of clinical and population variants.https://github.com/nglviewer/ngl
The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.
At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.
Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).
The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
SHH-201
SHH-202
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Q15465 [Direct mapping] Sonic hedgehog protein Sonic hedgehog protein N-product
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MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Disease related genes Human disease related genes Cancers Skin cancers Congenital malformations Congenital malformations of the nervous system Congenital malformations of eye Congenital malformations of the digestive system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000122 [negative regulation of transcription by RNA polymerase II] GO:0001525 [angiogenesis] 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:0001822 [kidney development] GO:0001942 [hair follicle development] GO:0001944 [vasculature development] GO:0001947 [heart looping] GO:0002052 [positive regulation of neuroblast proliferation] GO:0002053 [positive regulation of mesenchymal cell 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:0005515 [protein 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:0006355 [regulation of transcription, DNA-templated] GO:0006508 [proteolysis] GO:0006897 [endocytosis] GO:0007224 [smoothened signaling pathway] GO:0007228 [positive regulation of hh target transcription factor activity] GO:0007267 [cell-cell signaling] GO:0007275 [multicellular organism development] GO:0007368 [determination of left/right symmetry] 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:0008283 [cell population proliferation] GO:0008284 [positive regulation of cell population proliferation] GO:0009880 [embryonic pattern specification] GO:0009949 [polarity specification of anterior/posterior axis] GO:0009952 [anterior/posterior pattern specification] GO:0009953 [dorsal/ventral pattern formation] GO:0009986 [cell surface] GO:0010463 [mesenchymal cell proliferation] 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:0016020 [membrane] GO:0016539 [intein-mediated protein splicing] GO:0016540 [protein autoprocessing] GO:0016787 [hydrolase activity] GO:0021513 [spinal cord dorsal/ventral patterning] GO:0021522 [spinal cord motor neuron differentiation] GO:0021794 [thalamus development] GO:0021871 [forebrain regionalization] GO:0021904 [dorsal/ventral neural tube patterning] GO:0021924 [cell proliferation in external granule layer] GO:0021930 [cerebellar granule cell precursor proliferation] GO:0021938 [smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation] GO:0021940 [positive regulation of cerebellar granule cell precursor 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:0030178 [negative regulation of Wnt signaling pathway] GO:0030323 [respiratory tube development] 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:0031012 [extracellular matrix] 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:0042177 [negative regulation of protein catabolic process] GO:0042307 [positive regulation of protein import into nucleus] GO:0042475 [odontogenesis of dentin-containing tooth] GO:0042476 [odontogenesis] 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:0043588 [skin development] GO:0045059 [positive thymic T cell selection] GO:0045060 [negative thymic T cell selection] GO:0045109 [intermediate filament organization] GO:0045121 [membrane raft] GO:0045165 [cell fate commitment] GO:0045445 [myoblast differentiation] GO:0045596 [negative regulation of cell differentiation] GO:0045597 [positive 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:0046872 [metal ion binding] GO:0048468 [cell development] GO:0048538 [thymus development] GO:0048546 [digestive tract morphogenesis] GO:0048557 [embryonic digestive tract morphogenesis] GO:0048568 [embryonic organ development] GO:0048589 [developmental growth] GO:0048598 [embryonic morphogenesis] GO:0048617 [embryonic foregut morphogenesis] GO:0048643 [positive regulation of skeletal muscle tissue development] GO:0048645 [animal organ formation] GO:0048646 [anatomical structure formation involved in morphogenesis] 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:0048856 [anatomical structure development] GO:0048859 [formation of anatomical boundary] GO:0048864 [stem cell development] GO:0051146 [striated muscle cell differentiation] 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:0060173 [limb development] GO:0060174 [limb bud formation] GO:0060425 [lung morphogenesis] GO:0060428 [lung epithelium development] GO:0060438 [trachea development] GO:0060439 [trachea morphogenesis] GO:0060441 [epithelial tube branching involved in lung morphogenesis] GO:0060442 [branching involved in prostate gland 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:0060684 [epithelial-mesenchymal cell signaling] GO:0060685 [regulation of prostatic bud formation] GO:0060738 [epithelial-mesenchymal signaling involved in prostate gland development] GO:0060768 [regulation of epithelial cell proliferation 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]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Skin cancers Congenital malformations Congenital malformations of the nervous system Congenital malformations of eye Congenital malformations of the digestive system Protein evidence (Ezkurdia et al 2014)