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KMT2A
HPA
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Brain region
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Tau score
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  • SUMMARY

  • TISSUE

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  • STRUCT & INT

  • KMT2A
STRUCTURE & INTERACTION STRUCTURE INTERACTION METABOLIC PATHWAYS Show tissue menu
LYSINE METABOLISM
Protein structures
Protein interactions
Human metabolism
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

KMT2A
Synonyms ALL-1, ALL1, CXXC7, HRX, HTRX, HTRX1, MLL, MLL1, MLL1A, TRX1
Gene descriptioni

Full gene name according to HGNC.

Lysine methyltransferase 2A
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Cancer-related genes
Disease related genes
Enzymes
Human disease related genes
Metabolic proteins
Plasma proteins
Potential drug targets
Transcription factors
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)

HUMAN PROTEIN ATLAS INFORMATIONi

Summary of RNA expression analysis and annotation data generated within the Human Protein Atlas project.

Single cell type
expression clusteri

The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Non-specific - Transcription (mainly)
Single cell type specificityi

The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected.

Low cell type specificity
Tissue expression
cluster (RNA)i

The RNA data was used to cluster genes according to their expression across tissues. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Non-specific - Transcription (mainly)
Tissue specificity (RNA)i

The RNA specificity category is based on mRNA expression levels in the consensus dataset which is calculated from the RNA expression levels in samples from HPA and GTEX. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected.

Low tissue specificity
Subcellular locationi

Main subcellular location based on data generated in the subcellular section of the Human Protein Atlas.

Localized to the Nucleoplasm In addition localized to the Cytosol
Secretome annotationi

All genes with at least one predicted secreted isoform have been annotated and classified with the aim to determine if the corresponding protein(s) are:

  • secreted into blood
  • locally secreted
  • or actually being attached to membrane or retained in intracellular locations like mitochondria, endoplasmatic reticulum (ER), Golgi apparatus or lysosomes.

Not available
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.

Chromosome 11
Cytoband q23.3
Chromosome location (bp) 118436456 - 118526832
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

17
Ensembl ENSG00000118058 (version 109)
Entrez gene 4297
HGNC HGNC:7132
UniProt Q03164 (UniProt - Evidence at protein level)
neXtProt NX_Q03164
GeneCards KMT2A
ASSAYSi

Links to data of the different assays available in the Structure & Interaction resource of the Human Protein Atlas. Click on the miniature images to directly get to the respective section.

Proteinstructure Interaction Metabolic
PROTEIN BROWSERi

The Structure section provides in-house generated structures, predicted using the Alphafold source code, for the majority of the proteins and their related isoforms.

Displaying protein features on the AlphaFold structures

Individual splice variants can be selected in the top part of the Protein Browser (see below) and different transcript-related features such as transmembrane regions, InterPro domains and antigen sequences for antibodies can be displayed in the structure by clicking on the respective features in the Protein Browser.

Clinical and population-based amino acid variants based on data from the Ensembl variation database and AlphaMissense (AM) predictions can be highlighted using the sliders to the right of the structure. These can also be used to colour the entire structure by residue index or make the structure autorotate.The structures are displayed using the NGL Viewer and can also be zoomed-in and rotated manually.

The Protein Browser

The ProteinBrowser displays the antigen location on the target protein(s) and the features of the target protein. Transcript names and schematic transcript structures including exons, introns and UTRs for the different isoforms are shown on top, and can be used to switch between the structures for the different splice variants.

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.

Below 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).

Signal peptides (turquoise) and membrane regions (orange) based on predictions using the majority decision methods MDM and MDSEC are also 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-201
KMT2A-203
KMT2A-206
KMT2A-208
KMT2A-209
KMT2A-210
KMT2A-211
KMT2A-213
KMT2A-220
KMT2A-221
KMT2A-222
KMT2A-224
KMT2A-225
KMT2A-227
KMT2A-230
KMT2A-231
KMT2A-232
»

Description:

Color scheme:
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PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
KMT2A-201
Q03164
Show all
Enzymes
Metabolic proteins
Predicted intracellular proteins
Plasma proteins
Transcription factors
Cancer-related genes
Disease related genes
Potential drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
3969 aa
431.8 kDa
No 0
KMT2A-203
A0A8I5KRT6
Show all
Metabolic proteins
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
130 aa
14.7 kDa
No 0
KMT2A-206
H7C5V8
Show all
Metabolic proteins
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
531 aa
55.7 kDa
No 0
KMT2A-208
H0YEU4
Show all
Metabolic proteins
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
164 aa
15.5 kDa
No 0
KMT2A-209
E9PR05
Show all
Metabolic proteins
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
1439 aa
155.5 kDa
No 0
KMT2A-210
H0YEU4
Show all
Metabolic proteins
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
164 aa
15.5 kDa
No 0
KMT2A-211
H7C5W4
Show all
Metabolic proteins
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
500 aa
51.9 kDa
No 0
KMT2A-213
Q03164
Show all
Enzymes
Metabolic proteins
Predicted intracellular proteins
Plasma proteins
Transcription factors
Cancer-related genes
Disease related genes
Potential drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
3972 aa
432 kDa
No 0
KMT2A-220
A0A3B3ITT0
Show all
Metabolic proteins
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
197 aa
19.5 kDa
No 0
KMT2A-221
A0A3B3ISN4
Show all
Metabolic proteins
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
606 aa
63.7 kDa
No 0
KMT2A-222
Q03164
Show all
Enzymes
Metabolic proteins
Predicted intracellular proteins
Plasma proteins
Transcription factors
Cancer-related genes
Disease related genes
Potential drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
3931 aa
427.7 kDa
No 0
KMT2A-224
A0A8I5KY70
Show all
Metabolic proteins
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
1759 aa
188.9 kDa
No 0
KMT2A-225
A0A8I5KRW5
Show all
Metabolic proteins
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
260 aa
30 kDa
No 0
KMT2A-227
A0A8I5KQ03
Show all
Metabolic proteins
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
1793 aa
192.5 kDa
No 0
KMT2A-230
A0A8I5KQV5
Show all
Metabolic proteins
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
1683 aa
180.3 kDa
No 0
KMT2A-231
A0A8I5KVV7
Show all
Metabolic proteins
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
201 aa
22.3 kDa
No 0
KMT2A-232
A0A8I5KXR3
Show all
Metabolic proteins
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
3996 aa
434.6 kDa
No 0
Show allShow less
INTERACTIONi

In the Interaction part of this page network plots showing the gene's interaction partners according to four different datasets are displayed, including a consensus network plot showing only interactions present in at least two of the datasets. In the network plots the nodes represent genes and edge color represent the number of datasets the interaction belongs to.

The highlight bar in the top of the plot can be used to color the nodes according to subcellular location (based on data in the Subcellular section), predicted location (based on signalpeptide and transmembrane region predictions), tissue specificity (based on RNA tissue expression profiles) or proteinclass. For genes categorised as single cell type or group specific the option to highlight interaction partners expressed in the same cell type will also be available in the highlight bar.

Custom highlighting of nodes is possible using the top left Filter option in which a query of choice can be built to for example label all nodes that are tissue enriched in both human and mouse brain or those that belongs to a certain tissue expression cluster. The expression cluster for the gene is stated in the box Human Protein Atlas Information above the network plot. Click on Filter in the top left in the plot to find the query builder and some example queries.

Interactions included are direct interaction and physical associations with high and medium confidence from IntAct, physical multivalidated interactions from BioGRID, interactions with>75% probability from BioPlex and significant physical interactions from OpenCell.

Filter menu »
Fields »
e.g. Brain enriched, Localized to mitochondria, Non-specific - Transcription

Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Antibody panel
Tissue
Main location
Patient ID
Annotation
Tissue
Category
Tau score
Cluster
Reliability
Brain region
Category
Tau score
Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
Tissue
Cell type
Enrichment
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell lineage
Category
Tau score
Cluster
Cluster
Location
Searches
Location
Cell line
Class
Type
Phase
Reliability
Cancer
Prognosis
Cancer
Category
Cancer
Category
Tau score
Cluster
Variants
Interacting gene (ensg_id)
Type
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Data type
Column


Consensus
IntAct
BioGrid
OpenCell
BioPlex
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 14
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
AR344225300
ASH2L11184930
CDC73153044105
CSNK2B572911715437
CTR99734158
H3C12552282014
HCFC24314012
KAT8232810
PAF1111037129
PPIE51524100
PSIP1322360
RBBP51295470
TOP14961002591
WDR5344818585
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 22 View all protein interaction data in IntAct
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
AR344225300
ASH2L11184930
CDC73153044105
CTR99734158
H3C12552282014
H3C102523014
H3C112523014
H3C122523014
H3C25528014
H3C395215014
H3C40521014
H3C6175239014
H3C73524014
H3C82523014
HCFC24314012
KAT8232810
PAF1111037129
PPIE51524100
PSIP1322360
RBBP51295470
SIRT13448123017
WDR5344818585
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 63
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
AFF1111600
AFF4881407
AR344225300
ASH2L11184930
BRD43548702
CCNT1633176
CDC73153044105
CDK91714124190
CHD4133178170
CREBBP213619340
CSNK2A1996924718422
CSNK2A255914823222
CSNK2B572911715437
CTBP1252195124
CTNNB147852691313
CTR99734158
CXXC1352100
DOT1L342300
DPY303182480
ESR1325747300
FBXW79715003
H2AC46289410
H2BC3005000
H2BC81914600
H3-3A9268705
H3-462210600
H3C12552282014
H4C1325635205
HCFC1171872147
HCFC24314012
HDAC1102633627642
ITGB110206020
KAT6A2126150
KAT8232810
KLF37284600
KMT2D342700
LEO17716130
MEN16316230
MLLT1432007
MLLT3692500
MYC6588126320
MYCN573300
NONO7764131
PAF1111037129
POLR2A100184110
PPIE51524100
PPP1R15A451300
PSIP1322360
RBBP51295470
RHOC661840
SET5144400
SIN3A1411104512
SKIC81830281722
SKP215139516
SMARCB1213380270
SP1172511310
SYMPK6424612
TAF6313420
TAF91284506
TOP14961002591
TP5312016068250
WDR5344818585
YWHAQ8858310796
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 7
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
CSNK2B572911715437
HMGN51021131
MYO1E2212210
NUCKS17014970
NUMA1217571500
SSRP159910233328
TOP14961002591
KMT2A has no defined protein interactions in BioPlex.
METABOLIC SUMMARYi

In this summary the pathway/subsystems to which the gene belongs is shown together with the associated cellular compartment for the reactions based on metabolite information. The number of proteins and metabolites in the pathway is shown as well as the number of reactions for the selected gene. By clicking on a pathway in the summary table the associated metabolic network map is shown, together with a gene-tissue heatmap that shows the expression of genes in that pathway in different tissues.

Gene KMT2A is associated with 7 reactions in 1 different subsystems, and present in the compartments: Cytosol, Nucleus. Provided by metabolicatlas.org
Pathway / Subsystem Subsystem-associated compartments # proteins # metabolites # reactions for
this protein
Lysine metabolism Cytosol, Nucleus, Endoplasmic reticulum, Peroxisome, Mitochondria 50 62 7

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