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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):
Expressed in all
HPA (cell line):
Expressed in all
HPA (normal tissue):
Expressed in all
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.
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 score - normal tissuesi
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.
A majority of cancers displayed weak to moderate cytoplasmic and nuclear positivity. Several prostate cancers were negative.
Most cancer tissues showed moderate nuclear positivity. Few cases of squamous cell carcinomas of cervix and ovarian cancers along with head and neck cancers displayed strong immunoreactivity. Several cancers of liver, testis along with few kidney, pancreas and stomach were weakly stained or 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.
Gene name
KMT2A (HGNC Symbol)
Synonyms
ALL-1, CXXC7, HRX, HTRX1, MLL, MLL1A, TRX1
Description
Lysine methyltransferase 2A (HGNC Symbol)
Entrez gene summary
This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 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). 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.
KMT2A-001
KMT2A-002
KMT2A-006
KMT2A-007
KMT2A-010
KMT2A-015
KMT2A-016
KMT2A-017
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.
Enzymes ENZYME proteins Transferases THUMBUP predicted membrane proteins Predicted intracellular proteins Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Translocations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001046 [core promoter sequence-specific DNA binding] GO:0003677 [DNA binding] GO:0003680 [AT DNA binding] GO:0003682 [chromatin binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005829 [cytosol] GO:0006306 [DNA methylation] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0006461 [protein complex assembly] GO:0006915 [apoptotic process] GO:0008168 [methyltransferase activity] GO:0008270 [zinc ion binding] GO:0008285 [negative regulation of cell proliferation] GO:0008542 [visual learning] GO:0009416 [response to light stimulus] GO:0009791 [post-embryonic development] GO:0009952 [anterior/posterior pattern specification] GO:0010468 [regulation of gene expression] GO:0016569 [covalent chromatin modification] GO:0016740 [transferase activity] GO:0018024 [histone-lysine N-methyltransferase activity] GO:0018026 [peptidyl-lysine monomethylation] GO:0032259 [methylation] GO:0032411 [positive regulation of transporter activity] GO:0032922 [circadian regulation of gene expression] GO:0035097 [histone methyltransferase complex] GO:0035162 [embryonic hemopoiesis] GO:0035640 [exploration behavior] GO:0035864 [response to potassium ion] GO:0042800 [histone methyltransferase activity (H3-K4 specific)] GO:0042802 [identical protein binding] GO:0042803 [protein homodimerization activity] GO:0043984 [histone H4-K16 acetylation] GO:0044212 [transcription regulatory region DNA binding] GO:0044648 [histone H3-K4 dimethylation] GO:0045322 [unmethylated CpG binding] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046872 [metal ion binding] GO:0048172 [regulation of short-term neuronal synaptic plasticity] GO:0048511 [rhythmic process] GO:0048536 [spleen development] GO:0048873 [homeostasis of number of cells within a tissue] GO:0050890 [cognition] GO:0051568 [histone H3-K4 methylation] GO:0051569 [regulation of histone H3-K4 methylation] GO:0051571 [positive regulation of histone H3-K4 methylation] GO:0051899 [membrane depolarization] GO:0060216 [definitive hemopoiesis] GO:0070577 [lysine-acetylated histone binding] GO:0071339 [MLL1 complex] GO:0071440 [regulation of histone H3-K14 acetylation] GO:0080182 [histone H3-K4 trimethylation] GO:1901674 [regulation of histone H3-K27 acetylation] GO:2000615 [regulation of histone H3-K9 acetylation] GO:2001040 [positive regulation of cellular response to drug]
Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases THUMBUP predicted membrane proteins Predicted intracellular proteins Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Translocations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001046 [core promoter sequence-specific DNA binding] 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:0005829 [cytosol] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0006461 [protein complex assembly] GO:0006915 [apoptotic process] GO:0008168 [methyltransferase activity] GO:0008270 [zinc ion binding] GO:0016569 [covalent chromatin modification] GO:0016740 [transferase activity] GO:0018024 [histone-lysine N-methyltransferase activity] GO:0032259 [methylation] GO:0032411 [positive regulation of transporter activity] GO:0032922 [circadian regulation of gene expression] GO:0035097 [histone methyltransferase complex] GO:0035162 [embryonic hemopoiesis] GO:0042800 [histone methyltransferase activity (H3-K4 specific)] GO:0042802 [identical protein binding] GO:0042803 [protein homodimerization activity] GO:0043984 [histone H4-K16 acetylation] GO:0044212 [transcription regulatory region DNA binding] GO:0045322 [unmethylated CpG binding] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046872 [metal ion binding] GO:0048511 [rhythmic process] GO:0051568 [histone H3-K4 methylation] GO:0051571 [positive regulation of histone H3-K4 methylation] GO:0070577 [lysine-acetylated histone binding] GO:0071339 [MLL1 complex] GO:0071440 [regulation of histone H3-K14 acetylation] GO:0080182 [histone H3-K4 trimethylation] GO:2000615 [regulation of histone H3-K9 acetylation] GO:2001040 [positive regulation of cellular response to drug]
Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
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