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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.
Cytoplasmic and membranous expression in several tissues. High abundance in the brain, peripheral nerves, renal collecting ducts and the adrenal gland.
IMMUNOHISTOCHEMISTRY DATA RELIABILITY
Data reliability descriptioni
Standardized explanatory sentences with additional information required for full understanding of the knowledge-based expression profile.
Antibody staining 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.
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: Tissue enhanced (cerebellum)
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: Tissue enhanced (cerebellum)
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
ANK2 (HGNC Symbol)
Synonyms
LQT4
Description
Ankyrin 2 (HGNC Symbol)
Entrez gene summary
This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011]
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.
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Plasma proteins 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:0003283 [atrial septum development] GO:0005200 [structural constituent of cytoskeleton] GO:0005515 [protein binding] GO:0005622 [intracellular] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0006874 [cellular calcium ion homeostasis] GO:0006888 [ER to Golgi vesicle-mediated transport] GO:0007010 [cytoskeleton organization] GO:0007165 [signal transduction] GO:0007399 [nervous system development] GO:0010628 [positive regulation of gene expression] GO:0010881 [regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion] GO:0010882 [regulation of cardiac muscle contraction by calcium ion signaling] GO:0014704 [intercalated disc] GO:0016020 [membrane] GO:0016323 [basolateral plasma membrane] GO:0016324 [apical plasma membrane] GO:0019899 [enzyme binding] GO:0019901 [protein kinase binding] GO:0030018 [Z disc] GO:0030054 [cell junction] GO:0030315 [T-tubule] GO:0030507 [spectrin binding] GO:0030674 [protein binding, bridging] GO:0030913 [paranodal junction assembly] GO:0031430 [M band] GO:0031647 [regulation of protein stability] GO:0031672 [A band] GO:0033292 [T-tubule organization] GO:0033365 [protein localization to organelle] GO:0034394 [protein localization to cell surface] GO:0034613 [cellular protein localization] GO:0036309 [protein localization to M-band] GO:0036371 [protein localization to T-tubule] GO:0042383 [sarcolemma] GO:0043005 [neuron projection] GO:0043034 [costamere] GO:0043268 [positive regulation of potassium ion transport] GO:0044325 [ion channel binding] GO:0045121 [membrane raft] GO:0045202 [synapse] GO:0045211 [postsynaptic membrane] GO:0050821 [protein stabilization] GO:0051117 [ATPase binding] GO:0051279 [regulation of release of sequestered calcium ion into cytosol] GO:0051597 [response to methylmercury] GO:0051924 [regulation of calcium ion transport] GO:0051928 [positive regulation of calcium ion transport] GO:0055117 [regulation of cardiac muscle contraction] GO:0060307 [regulation of ventricular cardiac muscle cell membrane repolarization] GO:0070296 [sarcoplasmic reticulum calcium ion transport] GO:0070972 [protein localization to endoplasmic reticulum] GO:0072659 [protein localization to plasma membrane] GO:0072661 [protein targeting to plasma membrane] GO:0086004 [regulation of cardiac muscle cell contraction] GO:0086005 [ventricular cardiac muscle cell action potential] GO:0086014 [atrial cardiac muscle cell action potential] GO:0086015 [SA node cell action potential] GO:0086046 [membrane depolarization during SA node cell action potential] GO:0086066 [atrial cardiac muscle cell to AV node cell communication] GO:0086070 [SA node cell to atrial cardiac muscle cell communication] GO:0086091 [regulation of heart rate by cardiac conduction] GO:0098907 [regulation of SA node cell action potential] GO:0098910 [regulation of atrial cardiac muscle cell action potential] GO:1901018 [positive regulation of potassium ion transmembrane transporter activity] GO:1901019 [regulation of calcium ion transmembrane transporter activity] GO:1901021 [positive regulation of calcium ion transmembrane transporter activity] GO:2001259 [positive regulation of cation channel activity]
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Plasma proteins 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:0003283 [atrial septum development] GO:0005515 [protein binding] GO:0005622 [intracellular] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0006874 [cellular calcium ion homeostasis] GO:0006888 [ER to Golgi vesicle-mediated transport] GO:0007010 [cytoskeleton organization] GO:0007165 [signal transduction] GO:0010628 [positive regulation of gene expression] GO:0010881 [regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion] GO:0010882 [regulation of cardiac muscle contraction by calcium ion signaling] GO:0014704 [intercalated disc] GO:0016020 [membrane] GO:0016323 [basolateral plasma membrane] GO:0016324 [apical plasma membrane] GO:0019899 [enzyme binding] GO:0019901 [protein kinase binding] GO:0030018 [Z disc] GO:0030054 [cell junction] GO:0030315 [T-tubule] GO:0030507 [spectrin binding] GO:0030674 [protein binding, bridging] GO:0031430 [M band] GO:0031647 [regulation of protein stability] GO:0031672 [A band] GO:0033292 [T-tubule organization] GO:0033365 [protein localization to organelle] GO:0034394 [protein localization to cell surface] GO:0034613 [cellular protein localization] GO:0036309 [protein localization to M-band] GO:0036371 [protein localization to T-tubule] GO:0042383 [sarcolemma] GO:0043034 [costamere] GO:0043268 [positive regulation of potassium ion transport] GO:0044325 [ion channel binding] GO:0045202 [synapse] GO:0045211 [postsynaptic membrane] GO:0050821 [protein stabilization] GO:0051117 [ATPase binding] GO:0051279 [regulation of release of sequestered calcium ion into cytosol] GO:0051924 [regulation of calcium ion transport] GO:0051928 [positive regulation of calcium ion transport] GO:0055117 [regulation of cardiac muscle contraction] GO:0060307 [regulation of ventricular cardiac muscle cell membrane repolarization] GO:0070296 [sarcoplasmic reticulum calcium ion transport] GO:0070972 [protein localization to endoplasmic reticulum] GO:0072659 [protein localization to plasma membrane] GO:0072661 [protein targeting to plasma membrane] GO:0086004 [regulation of cardiac muscle cell contraction] GO:0086005 [ventricular cardiac muscle cell action potential] GO:0086014 [atrial cardiac muscle cell action potential] GO:0086015 [SA node cell action potential] GO:0086046 [membrane depolarization during SA node cell action potential] GO:0086066 [atrial cardiac muscle cell to AV node cell communication] GO:0086070 [SA node cell to atrial cardiac muscle cell communication] GO:0086091 [regulation of heart rate by cardiac conduction] GO:0098907 [regulation of SA node cell action potential] GO:0098910 [regulation of atrial cardiac muscle cell action potential] GO:1901018 [positive regulation of potassium ion transmembrane transporter activity] GO:1901019 [regulation of calcium ion transmembrane transporter activity] GO:1901021 [positive regulation of calcium ion transmembrane transporter activity] GO:2001259 [positive regulation of cation channel activity]
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Plasma proteins 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:0003283 [atrial septum development] GO:0005515 [protein binding] GO:0005622 [intracellular] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0006874 [cellular calcium ion homeostasis] GO:0006888 [ER to Golgi vesicle-mediated transport] GO:0007010 [cytoskeleton organization] GO:0007165 [signal transduction] GO:0010628 [positive regulation of gene expression] GO:0010881 [regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion] GO:0010882 [regulation of cardiac muscle contraction by calcium ion signaling] GO:0014704 [intercalated disc] GO:0016020 [membrane] GO:0016323 [basolateral plasma membrane] GO:0016324 [apical plasma membrane] GO:0019899 [enzyme binding] GO:0019901 [protein kinase binding] GO:0030018 [Z disc] GO:0030054 [cell junction] GO:0030315 [T-tubule] GO:0030507 [spectrin binding] GO:0030674 [protein binding, bridging] GO:0031430 [M band] GO:0031647 [regulation of protein stability] GO:0031672 [A band] GO:0033292 [T-tubule organization] GO:0033365 [protein localization to organelle] GO:0034394 [protein localization to cell surface] GO:0034613 [cellular protein localization] GO:0036309 [protein localization to M-band] GO:0036371 [protein localization to T-tubule] GO:0042383 [sarcolemma] GO:0043034 [costamere] GO:0043268 [positive regulation of potassium ion transport] GO:0044325 [ion channel binding] GO:0045202 [synapse] GO:0045211 [postsynaptic membrane] GO:0050821 [protein stabilization] GO:0051117 [ATPase binding] GO:0051279 [regulation of release of sequestered calcium ion into cytosol] GO:0051924 [regulation of calcium ion transport] GO:0051928 [positive regulation of calcium ion transport] GO:0055117 [regulation of cardiac muscle contraction] GO:0060307 [regulation of ventricular cardiac muscle cell membrane repolarization] GO:0070296 [sarcoplasmic reticulum calcium ion transport] GO:0070972 [protein localization to endoplasmic reticulum] GO:0072659 [protein localization to plasma membrane] GO:0072661 [protein targeting to plasma membrane] GO:0086004 [regulation of cardiac muscle cell contraction] GO:0086005 [ventricular cardiac muscle cell action potential] GO:0086014 [atrial cardiac muscle cell action potential] GO:0086015 [SA node cell action potential] GO:0086046 [membrane depolarization during SA node cell action potential] GO:0086066 [atrial cardiac muscle cell to AV node cell communication] GO:0086070 [SA node cell to atrial cardiac muscle cell communication] GO:0086091 [regulation of heart rate by cardiac conduction] GO:0098907 [regulation of SA node cell action potential] GO:0098910 [regulation of atrial cardiac muscle cell action potential] GO:1901018 [positive regulation of potassium ion transmembrane transporter activity] GO:1901019 [regulation of calcium ion transmembrane transporter activity] GO:1901021 [positive regulation of calcium ion transmembrane transporter activity] GO:2001259 [positive regulation of cation channel activity]
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002027 [regulation of heart rate] GO:0003283 [atrial septum development] GO:0005515 [protein binding] GO:0005622 [intracellular] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0006874 [cellular calcium ion homeostasis] GO:0006888 [ER to Golgi vesicle-mediated transport] GO:0007010 [cytoskeleton organization] GO:0007165 [signal transduction] GO:0010628 [positive regulation of gene expression] GO:0010881 [regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion] GO:0010882 [regulation of cardiac muscle contraction by calcium ion signaling] GO:0014704 [intercalated disc] GO:0016020 [membrane] GO:0016323 [basolateral plasma membrane] GO:0016324 [apical plasma membrane] GO:0019899 [enzyme binding] GO:0019901 [protein kinase binding] GO:0030018 [Z disc] GO:0030054 [cell junction] GO:0030315 [T-tubule] GO:0030507 [spectrin binding] GO:0030674 [protein binding, bridging] GO:0031430 [M band] GO:0031647 [regulation of protein stability] GO:0031672 [A band] GO:0033292 [T-tubule organization] GO:0033365 [protein localization to organelle] GO:0034394 [protein localization to cell surface] GO:0034613 [cellular protein localization] GO:0036309 [protein localization to M-band] GO:0036371 [protein localization to T-tubule] GO:0042383 [sarcolemma] GO:0043034 [costamere] GO:0043268 [positive regulation of potassium ion transport] GO:0044325 [ion channel binding] GO:0045202 [synapse] GO:0045211 [postsynaptic membrane] GO:0050821 [protein stabilization] GO:0051117 [ATPase binding] GO:0051279 [regulation of release of sequestered calcium ion into cytosol] GO:0051924 [regulation of calcium ion transport] GO:0051928 [positive regulation of calcium ion transport] GO:0055117 [regulation of cardiac muscle contraction] GO:0060307 [regulation of ventricular cardiac muscle cell membrane repolarization] GO:0070296 [sarcoplasmic reticulum calcium ion transport] GO:0070972 [protein localization to endoplasmic reticulum] GO:0072659 [protein localization to plasma membrane] GO:0072661 [protein targeting to plasma membrane] GO:0086004 [regulation of cardiac muscle cell contraction] GO:0086005 [ventricular cardiac muscle cell action potential] GO:0086014 [atrial cardiac muscle cell action potential] GO:0086015 [SA node cell action potential] GO:0086046 [membrane depolarization during SA node cell action potential] GO:0086066 [atrial cardiac muscle cell to AV node cell communication] GO:0086070 [SA node cell to atrial cardiac muscle cell communication] GO:0086091 [regulation of heart rate by cardiac conduction] GO:0098907 [regulation of SA node cell action potential] GO:0098910 [regulation of atrial cardiac muscle cell action potential] GO:1901018 [positive regulation of potassium ion transmembrane transporter activity] GO:1901019 [regulation of calcium ion transmembrane transporter activity] GO:1901021 [positive regulation of calcium ion transmembrane transporter activity] GO:2001259 [positive regulation of cation channel activity]
The Human Protein Atlas project is funded
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