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RNA category is based on mRNA expression levels in the analyzed samples (RNA assay description). The categories include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected. RNA category is calculated separately for data imported from The Genotype-Tissue Expression project (GTEX), FANTOM5 Consortium (FANTOM5) and internally generated Human Protein Atlas (HPA) data.
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.
Standardized explanatory sentences with additional information required for full understanding of the knowledge-based expression profile.
Antibody staining mainly not consistent with RNA expression data.
Reliability scorei
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.
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. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. Mouse-over function shows protein score for analyzed cell types 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: Mixed
GTEx dataseti
GTEx dataset RNA-seq data is 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: Mixed
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: Mixed
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.
The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
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.
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases CD markers Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins RAS pathway related proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes FDA approved drug targets Biotech drugs Small molecule drugs Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000165 [MAPK cascade] GO:0000166 [nucleotide binding] GO:0001525 [angiogenesis] GO:0001657 [ureteric bud development] GO:0001701 [in utero embryonic development] GO:0002053 [positive regulation of mesenchymal cell proliferation] GO:0003148 [outflow tract septum morphogenesis] GO:0003149 [membranous septum morphogenesis] GO:0004672 [protein kinase activity] GO:0004713 [protein tyrosine kinase activity] GO:0004714 [transmembrane receptor protein tyrosine kinase activity] GO:0005007 [fibroblast growth factor-activated receptor activity] GO:0005088 [Ras guanyl-nucleotide exchange factor activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005576 [extracellular region] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0005794 [Golgi apparatus] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0005938 [cell cortex] GO:0006468 [protein phosphorylation] GO:0006915 [apoptotic process] GO:0007267 [cell-cell signaling] GO:0007409 [axonogenesis] GO:0008201 [heparin binding] GO:0008284 [positive regulation of cell proliferation] GO:0008543 [fibroblast growth factor receptor signaling pathway] GO:0008589 [regulation of smoothened signaling pathway] GO:0009791 [post-embryonic development] GO:0009880 [embryonic pattern specification] GO:0009887 [animal organ morphogenesis] GO:0009986 [cell surface] GO:0010453 [regulation of cell fate commitment] GO:0010518 [positive regulation of phospholipase activity] GO:0014066 [regulation of phosphatidylinositol 3-kinase signaling] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0016301 [kinase activity] GO:0016303 [1-phosphatidylinositol-3-kinase activity] GO:0016310 [phosphorylation] GO:0016331 [morphogenesis of embryonic epithelium] GO:0016740 [transferase activity] GO:0017134 [fibroblast growth factor binding] GO:0018108 [peptidyl-tyrosine phosphorylation] GO:0021769 [orbitofrontal cortex development] GO:0021847 [ventricular zone neuroblast division] GO:0021860 [pyramidal neuron development] GO:0022612 [gland morphogenesis] GO:0030177 [positive regulation of Wnt signaling pathway] GO:0030282 [bone mineralization] GO:0030324 [lung development] GO:0030855 [epithelial cell differentiation] GO:0030901 [midbrain development] GO:0030916 [otic vesicle formation] GO:0031012 [extracellular matrix] GO:0031069 [hair follicle morphogenesis] GO:0031410 [cytoplasmic vesicle] GO:0032808 [lacrimal gland development] GO:0033688 [regulation of osteoblast proliferation] GO:0035264 [multicellular organism growth] GO:0035265 [organ growth] GO:0035602 [fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow] GO:0035603 [fibroblast growth factor receptor signaling pathway involved in hemopoiesis] GO:0035604 [fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow] GO:0035607 [fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development] GO:0036092 [phosphatidylinositol-3-phosphate biosynthetic process] GO:0040014 [regulation of multicellular organism growth] GO:0040036 [regulation of fibroblast growth factor receptor signaling pathway] GO:0042472 [inner ear morphogenesis] GO:0042476 [odontogenesis] GO:0042803 [protein homodimerization activity] GO:0043231 [intracellular membrane-bounded organelle] GO:0043410 [positive regulation of MAPK cascade] GO:0043547 [positive regulation of GTPase activity] GO:0045165 [cell fate commitment] GO:0045667 [regulation of osteoblast differentiation] GO:0045787 [positive regulation of cell cycle] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046777 [protein autophosphorylation] GO:0046854 [phosphatidylinositol phosphorylation] GO:0046934 [phosphatidylinositol-4,5-bisphosphate 3-kinase activity] GO:0048015 [phosphatidylinositol-mediated signaling] GO:0048286 [lung alveolus development] GO:0048557 [embryonic digestive tract morphogenesis] GO:0048562 [embryonic organ morphogenesis] GO:0048565 [digestive tract development] GO:0048568 [embryonic organ development] GO:0048608 [reproductive structure development] GO:0048701 [embryonic cranial skeleton morphogenesis] GO:0048705 [skeletal system morphogenesis] GO:0048730 [epidermis morphogenesis] GO:0048755 [branching morphogenesis of a nerve] GO:0048762 [mesenchymal cell differentiation] GO:0050679 [positive regulation of epithelial cell proliferation] GO:0051150 [regulation of smooth muscle cell differentiation] GO:0051781 [positive regulation of cell division] GO:0055010 [ventricular cardiac muscle tissue morphogenesis] GO:0060045 [positive regulation of cardiac muscle cell proliferation] GO:0060076 [excitatory synapse] GO:0060174 [limb bud formation] GO:0060348 [bone development] GO:0060349 [bone morphogenesis] GO:0060442 [branching involved in prostate gland morphogenesis] GO:0060445 [branching involved in salivary gland morphogenesis] GO:0060449 [bud elongation involved in lung branching] GO:0060463 [lung lobe morphogenesis] GO:0060484 [lung-associated mesenchyme development] GO:0060501 [positive regulation of epithelial cell proliferation involved in lung morphogenesis] GO:0060512 [prostate gland morphogenesis] GO:0060523 [prostate epithelial cord elongation] GO:0060527 [prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis] GO:0060529 [squamous basal epithelial stem cell differentiation involved in prostate gland acinus development] GO:0060595 [fibroblast growth factor receptor signaling pathway involved in mammary gland specification] GO:0060601 [lateral sprouting from an epithelium] GO:0060615 [mammary gland bud formation] GO:0060664 [epithelial cell proliferation involved in salivary gland morphogenesis] GO:0060667 [branch elongation involved in salivary gland morphogenesis] GO:0060670 [branching involved in labyrinthine layer morphogenesis] GO:0060687 [regulation of branching involved in prostate gland morphogenesis] GO:0060688 [regulation of morphogenesis of a branching structure] GO:0060915 [mesenchymal cell differentiation involved in lung development] GO:0060916 [mesenchymal cell proliferation involved in lung development] GO:0070372 [regulation of ERK1 and ERK2 cascade] GO:0070374 [positive regulation of ERK1 and ERK2 cascade] GO:0090263 [positive regulation of canonical Wnt signaling pathway]
Predicted intracellular proteins RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014)
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