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RNA category is based on mRNA expression levels in the analyzed samples (RNA assay description). The categories include: tissue/cell line enriched, group enriched, tissue/cell line enhanced, expressed in all, mixed and not detected. RNA category is calculated separately for The Cancer Genome Atlas (TCGA) data from cancer tissues and internally generated Human Protein Atlas (HPA) data from normal tissues and cell lines.
TCGA (cancer tissue):
Mixed
HPA (cell line):
Cell line enhanced (AF22, RH-30)
HPA (normal tissue):
Mixed
Protein evidencei
Protein evidence scores are generated from several independent sources and are classified as evidence at i) protein level, ii) transcript level, iii) no evidence, or iv) not available.
Evidence at protein level
Protein expression normal tissuei
A summary of the overall protein expression pattern across the analyzed normal tissues. The summary is based on knowledge-based annotation.
"Estimation of protein expression could not be performed. View primary data." is shown for genes analyzed with a knowledge-based approach where available RNA-seq and gene/protein characterization data has been evaluated as not sufficient in combination with immunohistochemistry data to yield a reliable estimation of the protein expression profile.
Reliability score (score description), divided into Enhanced, Supported, Approved, or Uncertain, is evaluated in normal tissues and based on consistency between antibody staining pattern, available RNA-Seq and gene/protein characterization data, as well as similarity between independent antibodies targeting the same protein.
Kaplan-Meier plots for all cancers where high expression of this gene has significant (p<0.001) association with patient survival are shown in this summary. Whether the prognosis is favourable or unfavourable is indicated in brackets. Each Kaplan-Meier plot is clickable and redirects to a detailed page that includes individual expression and survival data for patients with the selected cancer.
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEWi
RNA expression overview shows RNA-seq data from The Cancer Genome Atlas (TCGA).
TCGA dataseti
RNA-seq data in 17 cancer types are reported as median FPKM (number Fragments Per Kilobase of exon per Million reads), generated by the The Cancer Genome Atlas (TCGA). RNA cancer tissue category is calculated based on mRNA expression levels across all 17 cancer tissues and include: cancer tissue enriched, cancer group enriched, cancer tissue enhanced, expressed in all, mixed and not detected. To access cancer specific RNA and prognostic data, click on the cancer name. The cancer types are color-coded according to which type of normal organ the cancer originates from.
Antibody staining in 20 different cancers is summarized by a selection of four standard cancer tissue samples representative of the overall staining pattern. From left: colorectal cancer, breast cancer, prostate cancer and lung cancer. An additional fifth image can be added as a complement. The assay and annotation is described here. Note that samples used for immunohistochemistry by the Human Protein Atlas do not correspond to samples in the TCGA dataset.
For each cancer, color-coded bars indicate the percentage of patients (maximum 12 patients) with high and medium protein expression level. The cancer types are color-coded according to which type of normal organ the cancer originates from. Low or not detected protein expression results in a white bar. Mouse-over function shows details about expression level and normal tissue of origin. The images and annotations can be accessed by clicking on the cancer name or protein expression bar. If more than one antibody is analyzed, the tabs at the top of the staining summary section can be used to toggle between the different antibodies.
Most cancer cells showed weak to moderate cytoplasmic staining often combined with membranous immunoreactivity.
Cancer cells were in general negative. A few cancers displayed weak to moderate cytoplasmic/membranous positivity.
All cancers were negative.
GENE INFORMATIONi
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.
This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]
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.
Under 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.
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 Cancer-related genes Mutational cancer driver genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001954 [positive regulation of cell-matrix adhesion] GO:0002027 [regulation of heart rate] GO:0002162 [dystroglycan binding] GO:0003779 [actin binding] GO:0005178 [integrin binding] GO:0005200 [structural constituent of cytoskeleton] GO:0005521 [lamin binding] GO:0005634 [nucleus] GO:0005886 [plasma membrane] GO:0006355 [regulation of transcription, DNA-templated] GO:0007010 [cytoskeleton organization] GO:0007517 [muscle organ development] GO:0007519 [skeletal muscle tissue development] GO:0007568 [aging] GO:0008065 [establishment of blood-nerve barrier] GO:0008270 [zinc ion binding] GO:0010468 [regulation of gene expression] GO:0010880 [regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum] GO:0010881 [regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion] GO:0010976 [positive regulation of neuron projection development] GO:0014809 [regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion] GO:0014819 [regulation of skeletal muscle contraction] GO:0014894 [response to denervation involved in regulation of muscle adaptation] GO:0014904 [myotube cell development] GO:0016010 [dystrophin-associated glycoprotein complex] GO:0016203 [muscle attachment] GO:0021629 [olfactory nerve structural organization] GO:0030016 [myofibril] GO:0030018 [Z disc] GO:0030054 [cell junction] GO:0030055 [cell-substrate junction] GO:0030154 [cell differentiation] GO:0030165 [PDZ domain binding] GO:0032403 [protein complex binding] GO:0033137 [negative regulation of peptidyl-serine phosphorylation] GO:0034613 [cellular protein localization] GO:0035994 [response to muscle stretch] GO:0042383 [sarcolemma] GO:0042391 [regulation of membrane potential] GO:0042692 [muscle cell differentiation] GO:0043403 [skeletal muscle tissue regeneration] GO:0043623 [cellular protein complex assembly] GO:0044306 [neuron projection terminus] GO:0045121 [membrane raft] GO:0045202 [synapse] GO:0045213 [neurotransmitter receptor metabolic process] GO:0045666 [positive regulation of neuron differentiation] GO:0046716 [muscle cell cellular homeostasis] GO:0046872 [metal ion binding] GO:0048747 [muscle fiber development] GO:0048812 [neuron projection morphogenesis] GO:0050998 [nitric-oxide synthase binding] GO:0051647 [nucleus localization] GO:0060314 [regulation of ryanodine-sensitive calcium-release channel activity] GO:0060857 [establishment of glial blood-brain barrier] GO:0070373 [negative regulation of ERK1 and ERK2 cascade] GO:0086001 [cardiac muscle cell action potential] GO:0090287 [regulation of cellular response to growth factor stimulus] GO:1901385 [regulation of voltage-gated calcium channel activity] GO:1902083 [negative regulation of peptidyl-cysteine S-nitrosylation] GO:2000651 [positive regulation of sodium ion transmembrane transporter activity]
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Plasma proteins Cancer-related genes Mutational cancer driver genes Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0002027 [regulation of heart rate] GO:0002162 [dystroglycan binding] GO:0003779 [actin binding] GO:0005200 [structural constituent of cytoskeleton] GO:0005515 [protein binding] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0007010 [cytoskeleton organization] GO:0007517 [muscle organ development] GO:0008270 [zinc ion binding] GO:0008307 [structural constituent of muscle] GO:0009986 [cell surface] GO:0010880 [regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum] GO:0010881 [regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion] GO:0014809 [regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion] GO:0014819 [regulation of skeletal muscle contraction] GO:0016010 [dystrophin-associated glycoprotein complex] GO:0016013 [syntrophin complex] GO:0016020 [membrane] GO:0016203 [muscle attachment] GO:0016328 [lateral plasma membrane] GO:0017022 [myosin binding] GO:0017166 [vinculin binding] GO:0030018 [Z disc] GO:0030049 [muscle filament sliding] GO:0030054 [cell junction] GO:0030055 [cell-substrate junction] GO:0030175 [filopodium] GO:0031527 [filopodium membrane] GO:0033137 [negative regulation of peptidyl-serine phosphorylation] GO:0034613 [cellular protein localization] GO:0035994 [response to muscle stretch] GO:0042383 [sarcolemma] GO:0043034 [costamere] GO:0043043 [peptide biosynthetic process] GO:0043234 [protein complex] GO:0043623 [cellular protein complex assembly] GO:0044306 [neuron projection terminus] GO:0045121 [membrane raft] GO:0045202 [synapse] GO:0045211 [postsynaptic membrane] GO:0046716 [muscle cell cellular homeostasis] GO:0046872 [metal ion binding] GO:0048747 [muscle fiber development] GO:0050998 [nitric-oxide synthase binding] GO:0060048 [cardiac muscle contraction] GO:0060314 [regulation of ryanodine-sensitive calcium-release channel activity] GO:0086001 [cardiac muscle cell action potential] GO:1901385 [regulation of voltage-gated calcium channel activity] GO:1902083 [negative regulation of peptidyl-cysteine S-nitrosylation] GO:2000651 [positive regulation of sodium ion transmembrane transporter activity]
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Plasma proteins Cancer-related genes Mutational cancer driver genes Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0002027 [regulation of heart rate] GO:0002162 [dystroglycan binding] GO:0003779 [actin binding] GO:0005200 [structural constituent of cytoskeleton] GO:0005515 [protein binding] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0007010 [cytoskeleton organization] GO:0007517 [muscle organ development] GO:0008270 [zinc ion binding] GO:0008307 [structural constituent of muscle] GO:0009986 [cell surface] GO:0010880 [regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum] GO:0010881 [regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion] GO:0014809 [regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion] GO:0014819 [regulation of skeletal muscle contraction] GO:0016010 [dystrophin-associated glycoprotein complex] GO:0016013 [syntrophin complex] GO:0016020 [membrane] GO:0016203 [muscle attachment] GO:0016328 [lateral plasma membrane] GO:0017022 [myosin binding] GO:0017166 [vinculin binding] GO:0030018 [Z disc] GO:0030049 [muscle filament sliding] GO:0030054 [cell junction] GO:0030055 [cell-substrate junction] GO:0030175 [filopodium] GO:0031527 [filopodium membrane] GO:0033137 [negative regulation of peptidyl-serine phosphorylation] GO:0034613 [cellular protein localization] GO:0035994 [response to muscle stretch] GO:0042383 [sarcolemma] GO:0043034 [costamere] GO:0043043 [peptide biosynthetic process] GO:0043234 [protein complex] GO:0043623 [cellular protein complex assembly] GO:0044306 [neuron projection terminus] GO:0045121 [membrane raft] GO:0045202 [synapse] GO:0045211 [postsynaptic membrane] GO:0046716 [muscle cell cellular homeostasis] GO:0046872 [metal ion binding] GO:0048747 [muscle fiber development] GO:0050998 [nitric-oxide synthase binding] GO:0060048 [cardiac muscle contraction] GO:0060314 [regulation of ryanodine-sensitive calcium-release channel activity] GO:0086001 [cardiac muscle cell action potential] GO:1901385 [regulation of voltage-gated calcium channel activity] GO:1902083 [negative regulation of peptidyl-cysteine S-nitrosylation] GO:2000651 [positive regulation of sodium ion transmembrane transporter activity]
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Plasma proteins Cancer-related genes Mutational cancer driver genes Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0002027 [regulation of heart rate] GO:0002162 [dystroglycan binding] GO:0003779 [actin binding] GO:0005200 [structural constituent of cytoskeleton] GO:0005515 [protein binding] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0007010 [cytoskeleton organization] GO:0007517 [muscle organ development] GO:0008270 [zinc ion binding] GO:0008307 [structural constituent of muscle] GO:0009986 [cell surface] GO:0010880 [regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum] GO:0010881 [regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion] GO:0014809 [regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion] GO:0014819 [regulation of skeletal muscle contraction] GO:0016010 [dystrophin-associated glycoprotein complex] GO:0016013 [syntrophin complex] GO:0016020 [membrane] GO:0016203 [muscle attachment] GO:0016328 [lateral plasma membrane] GO:0017022 [myosin binding] GO:0017166 [vinculin binding] GO:0030018 [Z disc] GO:0030049 [muscle filament sliding] GO:0030054 [cell junction] GO:0030055 [cell-substrate junction] GO:0030175 [filopodium] GO:0031527 [filopodium membrane] GO:0033137 [negative regulation of peptidyl-serine phosphorylation] GO:0034613 [cellular protein localization] GO:0035994 [response to muscle stretch] GO:0042383 [sarcolemma] GO:0043034 [costamere] GO:0043043 [peptide biosynthetic process] GO:0043234 [protein complex] GO:0043623 [cellular protein complex assembly] GO:0044306 [neuron projection terminus] GO:0045121 [membrane raft] GO:0045202 [synapse] GO:0045211 [postsynaptic membrane] GO:0046716 [muscle cell cellular homeostasis] GO:0046872 [metal ion binding] GO:0048747 [muscle fiber development] GO:0050998 [nitric-oxide synthase binding] GO:0060048 [cardiac muscle contraction] GO:0060314 [regulation of ryanodine-sensitive calcium-release channel activity] GO:0086001 [cardiac muscle cell action potential] GO:1901385 [regulation of voltage-gated calcium channel activity] GO:1902083 [negative regulation of peptidyl-cysteine S-nitrosylation] GO:2000651 [positive regulation of sodium ion transmembrane transporter activity]
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
P11532 [Direct mapping] Dystrophin B4DSV7 [Target identity:100%; Query identity:100%] Dystrophin isoform 4; cDNA FLJ60143, highly similar to Homo sapiens dystrophin, transcript variant Dp140bc, mRNA
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Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Plasma proteins Cancer-related genes Mutational cancer driver genes Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002027 [regulation of heart rate] GO:0002162 [dystroglycan binding] GO:0003779 [actin binding] GO:0005200 [structural constituent of cytoskeleton] GO:0005515 [protein binding] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0007010 [cytoskeleton organization] GO:0007517 [muscle organ development] GO:0008270 [zinc ion binding] GO:0008307 [structural constituent of muscle] GO:0009986 [cell surface] GO:0010880 [regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum] GO:0010881 [regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion] GO:0014809 [regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion] GO:0014819 [regulation of skeletal muscle contraction] GO:0016010 [dystrophin-associated glycoprotein complex] GO:0016013 [syntrophin complex] GO:0016020 [membrane] GO:0016203 [muscle attachment] GO:0016328 [lateral plasma membrane] GO:0017022 [myosin binding] GO:0017166 [vinculin binding] GO:0030018 [Z disc] GO:0030049 [muscle filament sliding] GO:0030054 [cell junction] GO:0030055 [cell-substrate junction] GO:0030175 [filopodium] GO:0031527 [filopodium membrane] GO:0033137 [negative regulation of peptidyl-serine phosphorylation] GO:0034613 [cellular protein localization] GO:0035994 [response to muscle stretch] GO:0042383 [sarcolemma] GO:0043034 [costamere] GO:0043043 [peptide biosynthetic process] GO:0043234 [protein complex] GO:0043623 [cellular protein complex assembly] GO:0044306 [neuron projection terminus] GO:0045121 [membrane raft] GO:0045202 [synapse] GO:0045211 [postsynaptic membrane] GO:0046716 [muscle cell cellular homeostasis] GO:0046872 [metal ion binding] GO:0048747 [muscle fiber development] GO:0050998 [nitric-oxide synthase binding] GO:0060048 [cardiac muscle contraction] GO:0060314 [regulation of ryanodine-sensitive calcium-release channel activity] GO:0086001 [cardiac muscle cell action potential] GO:1901385 [regulation of voltage-gated calcium channel activity] GO:1902083 [negative regulation of peptidyl-cysteine S-nitrosylation] GO:2000651 [positive regulation of sodium ion transmembrane transporter activity]
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
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