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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.
Disease related genes Human disease related genes Transcription factors
Predicted locationi
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
p14.1
Chromosome location (bp)
41960949 - 42264100
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.
GLI3-201
GLI3-202
GLI3-203
GLI3-205
GLI3-206
GLI3-208
GLI3-209
GLI3-210
GLI3-212
GLI3-213
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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122 [negative regulation of transcription by RNA polymerase II] GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001656 [metanephros development] GO:0001658 [branching involved in ureteric bud morphogenesis] GO:0001701 [in utero embryonic development] GO:0001822 [kidney development] GO:0002052 [positive regulation of neuroblast proliferation] GO:0003677 [DNA binding] GO:0003682 [chromatin binding] GO:0003700 [DNA-binding transcription factor activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0005929 [cilium] GO:0005930 [axoneme] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription by RNA polymerase II] GO:0007224 [smoothened signaling pathway] GO:0007389 [pattern specification process] GO:0007411 [axon guidance] GO:0007417 [central nervous system development] GO:0007420 [brain development] GO:0007442 [hindgut morphogenesis] GO:0007507 [heart development] GO:0008013 [beta-catenin binding] GO:0008285 [negative regulation of cell population proliferation] GO:0009952 [anterior/posterior pattern specification] GO:0009953 [dorsal/ventral pattern formation] GO:0009954 [proximal/distal pattern formation] GO:0010468 [regulation of gene expression] GO:0016485 [protein processing] GO:0016607 [nuclear speck] GO:0017053 [transcription repressor complex] GO:0021513 [spinal cord dorsal/ventral patterning] GO:0021522 [spinal cord motor neuron differentiation] GO:0021537 [telencephalon development] GO:0021543 [pallium development] GO:0021544 [subpallium development] GO:0021631 [optic nerve morphogenesis] GO:0021766 [hippocampus development] GO:0021775 [smoothened signaling pathway involved in ventral spinal cord interneuron specification] GO:0021776 [smoothened signaling pathway involved in spinal cord motor neuron cell fate specification] GO:0021798 [forebrain dorsal/ventral pattern formation] GO:0021801 [cerebral cortex radial glia guided migration] GO:0021819 [layer formation in cerebral cortex] GO:0021861 [forebrain radial glial cell differentiation] GO:0021915 [neural tube development] GO:0022018 [lateral ganglionic eminence cell proliferation] GO:0030318 [melanocyte differentiation] GO:0030324 [lung development] GO:0030326 [embryonic limb morphogenesis] GO:0030850 [prostate gland development] GO:0030879 [mammary gland development] GO:0030900 [forebrain development] GO:0032332 [positive regulation of chondrocyte differentiation] GO:0033077 [T cell differentiation in thymus] GO:0035035 [histone acetyltransferase binding] GO:0035108 [limb morphogenesis] GO:0035295 [tube development] GO:0036033 [mediator complex binding] GO:0042060 [wound healing] GO:0042127 [regulation of cell population proliferation] GO:0042307 [positive regulation of protein import into nucleus] GO:0042475 [odontogenesis of dentin-containing tooth] GO:0042733 [embryonic digit morphogenesis] GO:0042826 [histone deacetylase binding] GO:0042981 [regulation of apoptotic process] GO:0042995 [cell projection] GO:0043010 [camera-type eye development] GO:0043066 [negative regulation of apoptotic process] GO:0043231 [intracellular membrane-bounded organelle] GO:0043565 [sequence-specific DNA binding] GO:0043585 [nose morphogenesis] GO:0043586 [tongue development] GO:0043627 [response to estrogen] GO:0045060 [negative thymic T cell selection] GO:0045595 [regulation of cell differentiation] GO:0045596 [negative regulation of cell differentiation] GO:0045665 [negative regulation of neuron differentiation] GO:0045669 [positive regulation of osteoblast differentiation] GO:0045879 [negative regulation of smoothened signaling pathway] GO:0045892 [negative regulation of transcription, DNA-templated] 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:0048557 [embryonic digestive tract morphogenesis] GO:0048566 [embryonic digestive tract development] GO:0048568 [embryonic organ development] GO:0048589 [developmental growth] GO:0048593 [camera-type eye morphogenesis] GO:0048598 [embryonic morphogenesis] GO:0048646 [anatomical structure formation involved in morphogenesis] GO:0048663 [neuron fate commitment] GO:0048702 [embryonic neurocranium morphogenesis] GO:0048704 [embryonic skeletal system morphogenesis] GO:0048709 [oligodendrocyte differentiation] GO:0048754 [branching morphogenesis of an epithelial tube] GO:0048839 [inner ear development] GO:0048856 [anatomical structure development] GO:0060021 [roof of mouth development] GO:0060173 [limb development] GO:0060364 [frontal suture morphogenesis] GO:0060366 [lambdoid suture morphogenesis] GO:0060367 [sagittal suture morphogenesis] GO:0060594 [mammary gland specification] GO:0060831 [smoothened signaling pathway involved in dorsal/ventral neural tube patterning] GO:0060840 [artery development] GO:0060873 [anterior semicircular canal development] GO:0060875 [lateral semicircular canal development] GO:0061005 [cell differentiation involved in kidney development] GO:0070242 [thymocyte apoptotic process] GO:0071625 [vocalization behavior] GO:0090090 [negative regulation of canonical Wnt signaling pathway] GO:0097421 [liver regeneration] GO:0097542 [ciliary tip] GO:0097546 [ciliary base] GO:0120223 [larynx morphogenesis] GO:1901620 [regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning] GO:1903010 [regulation of bone development] GO:1990837 [sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0003677 [DNA binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription by RNA polymerase II] GO:0007224 [smoothened signaling pathway] GO:0009952 [anterior/posterior pattern specification] GO:0009953 [dorsal/ventral pattern formation] GO:0046872 [metal ion binding] GO:0048568 [embryonic organ development]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0003677 [DNA binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription by RNA polymerase II] GO:0007224 [smoothened signaling pathway] GO:0009952 [anterior/posterior pattern specification] GO:0009953 [dorsal/ventral pattern formation] GO:0046872 [metal ion binding] GO:0048568 [embryonic organ development]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0003677 [DNA binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription by RNA polymerase II] GO:0007224 [smoothened signaling pathway] GO:0009952 [anterior/posterior pattern specification] GO:0009953 [dorsal/ventral pattern formation] GO:0046872 [metal ion binding] GO:0048568 [embryonic organ development]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription by RNA polymerase II] GO:0007224 [smoothened signaling pathway] GO:0009952 [anterior/posterior pattern specification] GO:0009953 [dorsal/ventral pattern formation] GO:0048568 [embryonic organ development]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription by RNA polymerase II] GO:0007224 [smoothened signaling pathway] GO:0009952 [anterior/posterior pattern specification] GO:0009953 [dorsal/ventral pattern formation] GO:0048568 [embryonic organ development]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription by RNA polymerase II] GO:0007224 [smoothened signaling pathway] GO:0009952 [anterior/posterior pattern specification] GO:0009953 [dorsal/ventral pattern formation] GO:0048568 [embryonic organ development]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations Protein evidence (Ezkurdia et al 2014)