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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.
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 expressioni
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.
Nuclear expression, most abundant in CNS, skeletal muscle, endothelial and lymphoid cells.
DATA RELIABILITY
Data reliability descriptioni
Standardized explanatory sentences with additional information required for full understanding of the knowledge-based expression profile.
Antibody staining mainly consistent with RNA expression data.
Reliability scorei
Reliability score (score description), divided into Supported, Approved, or Uncertain, is evaluated in normal tissues and based on consistency between the staining pattern of one antibody or several antibodies with RNA-seq data and available gene/protein characterization data.
Below is an overview of RNA and protein expression data generated in the Human Protein Atlas project. Analyzed tissues are divided into color-coded groups according to which functional features they have in common. For each group, a list of included tissues is accessed by clicking on group name, group symbol, RNA bar, or protein bar. Subsequent selection of a particular tissue in this list links to the image data page. Images of selected tissues give a visual summary of the protein expression profile furthest to the right. The gray human body provides links to a histology dictionary when clicking on any part of the figure.
RNA expression (TPM)i
RNA-seq results generated in HPA are reported as number of transcripts per million (TPM). Each bar represents the highest expression score found in a particular group of tissues. The assay is described more in detail in Assays & Annotation.
Protein expression (score)i
Each bar represents the highest expression score found in a particular group of tissues. Protein expression scores are based on a best estimate of the "true" protein expression from a knowledge-based annotation, described more in detail under Assays & annotation. For genes where more than one antibody has been used, a collective score is set displaying the estimated true protein expression.
Protein expression data is shown for each of the 44 tissues. The color-coding is based on tissues with functional features in common. Mouse-over function shows protein score for analyzed cell types found in a selected tissue. To access image data click on tissue name or bar. Annotation of protein expression is described in detail in Assays & annotation.
For genes with available protein data for which a knowledge-based annotation gave inconclusive results, no protein expression data is displayed in the protein expression data overview, however, all immunohistochemical images are still available and the annotation data can be found under Primary data.
Organ
Expression
Alphabetical
RNA EXPRESSION OVERVIEWi
RNA expression overview shows RNA-data from three different sources: Internally generated Human Protein Atlas (HPA) RNA-seq data, RNA-seq data from the Genotype-Tissue Expression (GTEx) project and CAGE data from FANTOM5 project. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. To access sample data, click on tissue name or bar.
HPA dataseti
HPA dataset RNA-seq tissue data is reported as mean TPM (transcripts per million), corresponding to mean values of the different individual samples from each tissue. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. To access sample data, click on tissue name or bar. The RNA-seq assay is described in detail in Assays & Annotation.
RNA tissue category HPA HPA RNA tissue category (category description) is calculated based on mRNA expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataseti
GTEx dataset RNA-seq data are reported as median RPKM (reads per kilobase per million mapped reads), generated by the Genotype-Tissue Expression (GTEx) project. More information can be found in Assays & Annotation.
RNA tissue category GTEx GTEx RNA tissue category (category description) is calculated based on mRNA expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataseti
FANTOM5 dataset Tissue data obtained through Cap Analysis of Gene Expression (CAGE) are reported as Tags Per Million, generated by the FANTOM5 project. More information can be found in Assays & Annotation.
RNA tissue category FANTOM5 FANTOM5 RNA tissue category (category description) is calculated based on gene expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
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.
Gene name
MEF2C
Synonyms
Description
Myocyte enhancer factor 2C (HGNC Symbol)
Entrez gene summary
This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe mental retardation, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]
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) (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 Transcription factors alpha-Helices exposed by beta-structures Disease related genes Protein evidence (Kim et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000165 [MAPK cascade] GO:0000977 [RNA polymerase II regulatory region sequence-specific DNA binding] GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding] GO:0000983 [transcription factor activity, RNA polymerase II core promoter sequence-specific] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001568 [blood vessel development] GO:0001649 [osteoblast differentiation] GO:0001764 [neuron migration] GO:0001782 [B cell homeostasis] GO:0001947 [heart looping] GO:0001958 [endochondral ossification] GO:0001974 [blood vessel remodeling] GO:0002062 [chondrocyte differentiation] GO:0002224 [toll-like receptor signaling pathway] GO:0002467 [germinal center formation] GO:0002634 [regulation of germinal center formation] GO:0002755 [MyD88-dependent toll-like receptor signaling pathway] GO:0002756 [MyD88-independent toll-like receptor signaling pathway] GO:0003138 [primary heart field specification] GO:0003139 [secondary heart field specification] GO:0003151 [outflow tract morphogenesis] GO:0003185 [sinoatrial valve morphogenesis] GO:0003211 [cardiac ventricle formation] GO:0003677 [DNA binding] GO:0003680 [AT DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0006915 [apoptotic process] GO:0006959 [humoral immune response] GO:0007399 [nervous system development] GO:0007507 [heart development] GO:0007517 [muscle organ development] GO:0007519 [skeletal muscle tissue development] GO:0007521 [muscle cell fate determination] GO:0007611 [learning or memory] GO:0009615 [response to virus] GO:0010628 [positive regulation of gene expression] GO:0010629 [negative regulation of gene expression] GO:0010694 [positive regulation of alkaline phosphatase activity] GO:0014033 [neural crest cell differentiation] GO:0014902 [myotube differentiation] GO:0016607 [nuclear speck] GO:0030182 [neuron differentiation] GO:0030220 [platelet formation] GO:0030279 [negative regulation of ossification] GO:0030318 [melanocyte differentiation] GO:0030501 [positive regulation of bone mineralization] GO:0030890 [positive regulation of B cell proliferation] GO:0033613 [activating transcription factor binding] GO:0034134 [toll-like receptor 2 signaling pathway] GO:0034138 [toll-like receptor 3 signaling pathway] GO:0034142 [toll-like receptor 4 signaling pathway] GO:0034146 [toll-like receptor 5 signaling pathway] GO:0034162 [toll-like receptor 9 signaling pathway] GO:0034166 [toll-like receptor 10 signaling pathway] GO:0035198 [miRNA binding] GO:0035666 [TRIF-dependent toll-like receptor signaling pathway] GO:0035690 [cellular response to drug] GO:0035984 [cellular response to trichostatin A] GO:0038123 [toll-like receptor TLR1:TLR2 signaling pathway] GO:0038124 [toll-like receptor TLR6:TLR2 signaling pathway] GO:0042100 [B cell proliferation] GO:0042692 [muscle cell differentiation] GO:0043231 [intracellular membrane-bounded organelle] GO:0043234 [protein complex] GO:0043523 [regulation of neuron apoptotic process] GO:0043524 [negative regulation of neuron apoptotic process] GO:0044212 [transcription regulatory region DNA binding] GO:0045087 [innate immune response] GO:0045652 [regulation of megakaryocyte differentiation] GO:0045663 [positive regulation of myoblast differentiation] GO:0045666 [positive regulation of neuron differentiation] GO:0045669 [positive regulation of osteoblast differentiation] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046928 [regulation of neurotransmitter secretion] GO:0046982 [protein heterodimerization activity] GO:0046983 [protein dimerization activity] GO:0048011 [neurotrophin TRK receptor signaling pathway] GO:0048167 [regulation of synaptic plasticity] GO:0048643 [positive regulation of skeletal muscle tissue development] GO:0048666 [neuron development] GO:0048667 [cell morphogenesis involved in neuron differentiation] GO:0050853 [B cell receptor signaling pathway] GO:0051145 [smooth muscle cell differentiation] GO:0051149 [positive regulation of muscle cell differentiation] GO:0051403 [stress-activated MAPK cascade] GO:0051963 [regulation of synapse assembly] GO:0051966 [regulation of synaptic transmission, glutamatergic] GO:0055012 [ventricular cardiac muscle cell differentiation] GO:0060025 [regulation of synaptic activity] GO:0060045 [positive regulation of cardiac muscle cell proliferation] GO:0060079 [excitatory postsynaptic potential] GO:0060998 [regulation of dendritic spine development] GO:0061333 [renal tubule morphogenesis] GO:0071222 [cellular response to lipopolysaccharide] GO:0071277 [cellular response to calcium ion] GO:0071374 [cellular response to parathyroid hormone stimulus] GO:0071498 [cellular response to fluid shear stress] GO:0071560 [cellular response to transforming growth factor beta stimulus] GO:0072102 [glomerulus morphogenesis] GO:0072160 [nephron tubule epithelial cell differentiation] GO:0090073 [positive regulation of protein homodimerization activity] GO:2000111 [positive regulation of macrophage apoptotic process] GO:2000310 [regulation of N-methyl-D-aspartate selective glutamate receptor activity] GO:2000311 [regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity] GO:2000727 [positive regulation of cardiac muscle cell differentiation] GO:2000987 [positive regulation of behavioral fear response] GO:2001013 [epithelial cell proliferation involved in renal tubule morphogenesis] GO:2001016 [positive regulation of skeletal muscle cell differentiation]
