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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.
Cancer-related genes Disease related genes Human disease related genes Plasma proteins
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
17
Cytoband
p12
Chromosome location (bp)
12665890 - 12768949
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.
MYOCD-201
MYOCD-203
MYOCD-204
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 Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Disease related genes Human disease related genes Congenital malformations Congenital malformations of the urinary system Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0001666 [response to hypoxia] GO:0003257 [positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation] GO:0003713 [transcription coactivator activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0008134 [transcription factor binding] GO:0008285 [negative regulation of cell population proliferation] GO:0035051 [cardiocyte differentiation] GO:0035065 [regulation of histone acetylation] GO:0045736 [negative regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription by RNA polymerase II] GO:0045987 [positive regulation of smooth muscle contraction] GO:0051091 [positive regulation of DNA-binding transcription factor activity] GO:0051145 [smooth muscle cell differentiation] GO:0051150 [regulation of smooth muscle cell differentiation] GO:0051152 [positive regulation of smooth muscle cell differentiation] GO:0055007 [cardiac muscle cell differentiation] GO:0060157 [urinary bladder development] GO:0061629 [RNA polymerase II-specific DNA-binding transcription factor binding] GO:1900222 [negative regulation of amyloid-beta clearance] GO:2000721 [positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation] GO:2000724 [positive regulation of cardiac vascular smooth muscle cell differentiation] GO:2000727 [positive regulation of cardiac muscle cell differentiation] GO:2001015 [negative regulation of skeletal muscle cell differentiation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Disease related genes Human disease related genes Congenital malformations Congenital malformations of the urinary system Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000122 [negative regulation of transcription by RNA polymerase II] GO:0000785 [chromatin] GO:0001560 [regulation of cell growth by extracellular stimulus] GO:0001570 [vasculogenesis] GO:0001666 [response to hypoxia] GO:0003231 [cardiac ventricle development] GO:0003257 [positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation] GO:0003713 [transcription coactivator activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006357 [regulation of transcription by RNA polymerase II] GO:0007507 [heart development] GO:0008134 [transcription factor binding] GO:0008284 [positive regulation of cell population proliferation] GO:0008285 [negative regulation of cell population proliferation] GO:0010628 [positive regulation of gene expression] GO:0010667 [negative regulation of cardiac muscle cell apoptotic process] GO:0010832 [negative regulation of myotube differentiation] GO:0030511 [positive regulation of transforming growth factor beta receptor signaling pathway] GO:0035035 [histone acetyltransferase binding] GO:0035051 [cardiocyte differentiation] GO:0035065 [regulation of histone acetylation] GO:0035886 [vascular associated smooth muscle cell differentiation] GO:0042692 [muscle cell differentiation] GO:0042826 [histone deacetylase binding] GO:0043388 [positive regulation of DNA binding] GO:0043954 [cellular component maintenance] GO:0045661 [regulation of myoblast differentiation] GO:0045736 [negative regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription by RNA polymerase II] GO:0045987 [positive regulation of smooth muscle contraction] GO:0048286 [lung alveolus development] GO:0048565 [digestive tract development] GO:0051091 [positive regulation of DNA-binding transcription factor activity] GO:0051145 [smooth muscle cell differentiation] GO:0051150 [regulation of smooth muscle cell differentiation] GO:0051152 [positive regulation of smooth muscle cell differentiation] GO:0055007 [cardiac muscle cell differentiation] GO:0055012 [ventricular cardiac muscle cell differentiation] GO:0060065 [uterus development] GO:0060157 [urinary bladder development] GO:0060354 [negative regulation of cell adhesion molecule production] GO:0061629 [RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070412 [R-SMAD binding] GO:0097070 [ductus arteriosus closure] GO:1900222 [negative regulation of amyloid-beta clearance] GO:1900239 [regulation of phenotypic switching] GO:1901228 [positive regulation of transcription from RNA polymerase II promoter involved in heart development] GO:1903800 [positive regulation of production of miRNAs involved in gene silencing by miRNA] GO:1904706 [negative regulation of vascular associated smooth muscle cell proliferation] GO:1904753 [negative regulation of vascular associated smooth muscle cell migration] GO:2000587 [negative regulation of platelet-derived growth factor receptor-beta signaling pathway] GO:2000721 [positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation] GO:2000724 [positive regulation of cardiac vascular smooth muscle cell differentiation] GO:2000727 [positive regulation of cardiac muscle cell differentiation] GO:2001015 [negative regulation of skeletal muscle cell differentiation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Human disease related genes Congenital malformations Congenital malformations of the urinary system
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GO:0003713 [transcription coactivator activity] GO:0005634 [nucleus] GO:0045893 [positive regulation of transcription, DNA-templated] GO:2000727 [positive regulation of cardiac muscle cell differentiation]
The Human Protein Atlas project is funded
