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Entry version 206 (13 Nov 2019)
Sequence version 1 (01 May 2000)
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Protein

Histone-lysine N-methyltransferase 2B

Gene

KMT2B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Histone methyltransferase that methylates 'Lys-4' of histone H3 (PubMed:17707229). H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation (PubMed:17707229). Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2 (PubMed:17707229). Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development (By similarity). Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival and normal zygotic genome activation (By similarity).By similarity1 Publication

Caution

This protein was first named MLL2 by PubMed:10637508 and PubMed:10409430. MLL2 corresponds to another protein located on chromosome 12 (see AC O14686). Thus, KMT2B/MLL4 is often referred to as MLL2 and vice versa in the literature.Curated

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi966ZincCombined sources1 Publication1
Metal bindingi969ZincCombined sources1 Publication1
Metal bindingi972ZincCombined sources1 Publication1
Metal bindingi978ZincCombined sources1 Publication1
Metal bindingi981ZincCombined sources1 Publication1
Metal bindingi984ZincCombined sources1 Publication1
Metal bindingi1000ZincCombined sources1 Publication1
Metal bindingi1005ZincCombined sources1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei2585S-adenosyl-L-methioninePROSITE-ProRule annotation1
Binding sitei2587S-adenosyl-L-methioninePROSITE-ProRule annotation1
Binding sitei2629S-adenosyl-L-methioninePROSITE-ProRule annotation1
Metal bindingi2655ZincBy similarity1
Metal bindingi2703ZincBy similarity1
Binding sitei2704S-adenosyl-L-methioninePROSITE-ProRule annotation1
Metal bindingi2705ZincBy similarity1
Metal bindingi2710ZincBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi37 – 44A.T hook 18
DNA bindingi110 – 117A.T hook 28
DNA bindingi357 – 365A.T hook 39
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri959 – 1006CXXC-typePROSITE-ProRule annotation1 PublicationAdd BLAST48
Zinc fingeri1201 – 1252PHD-type 1PROSITE-ProRule annotationAdd BLAST52
Zinc fingeri1249 – 1303PHD-type 2PROSITE-ProRule annotationAdd BLAST55
Zinc fingeri1335 – 1396PHD-type 3PROSITE-ProRule annotationAdd BLAST62
Zinc fingeri1578 – 1618C2HC pre-PHD-typePROSITE-ProRule annotationAdd BLAST41
Zinc fingeri1639 – 1686PHD-type 4PROSITE-ProRule annotationAdd BLAST48

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChromatin regulator, DNA-binding, Methyltransferase, Transferase
Biological processTranscription, Transcription regulation
LigandMetal-binding, S-adenosyl-L-methionine, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-3214841 PKMTs methylate histone lysines
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Histone-lysine N-methyltransferase 2B (EC:2.1.1.431 Publication)
Short name:
Lysine N-methyltransferase 2B
Alternative name(s):
Myeloid/lymphoid or mixed-lineage leukemia protein 4
Trithorax homolog 2
WW domain-binding protein 7
Short name:
WBP-7
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KMT2B
Synonyms:HRX2, KIAA0304, MLL2, MLL4, TRX2, WBP7
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:15840 KMT2B

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606834 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UMN6

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Dystonia 28, childhood-onset (DYT28)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT28 is an autosomal dominant, progressive form characterized by onset in the first decade of life and variable severity. Dystonia begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_080233545 – 2715Missing in DYT28. 1 PublicationAdd BLAST2171
Natural variantiVAR_080234564 – 2715Missing in DYT28. 1 PublicationAdd BLAST2152
Natural variantiVAR_080235810 – 2715Missing in DYT28. 1 PublicationAdd BLAST1906
Natural variantiVAR_0802361515 – 2715Missing in DYT28. 1 PublicationAdd BLAST1201
Natural variantiVAR_0802371652G → D in DYT28; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1555731832EnsemblClinVar.1
Natural variantiVAR_0802381662F → L in DYT28; unknown pathological significance. 1 Publication1
Natural variantiVAR_0802391705R → Q in DYT28; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1555731980EnsemblClinVar.1
Natural variantiVAR_0802401762R → C in DYT28; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1489232377EnsemblClinVar.1
Natural variantiVAR_0802411781L → P in DYT28; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1555732094EnsemblClinVar.1
Natural variantiVAR_0802422517R → W in DYT28; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1057519285EnsemblClinVar.1
Natural variantiVAR_0802432674I → T in DYT28; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1555735051EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dystonia

Organism-specific databases

DisGeNET

More...
DisGeNETi
9757

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
KMT2B

MalaCards human disease database

More...
MalaCardsi
KMT2B
MIMi617284 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000272333

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9UMN6

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2189112

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KMT2B

Domain mapping of disease mutations (DMDM)

More...
DMDMi
12643900

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001248812 – 2715Histone-lysine N-methyltransferase 2BAdd BLAST2714

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei113PhosphoserineBy similarity1
Modified residuei114PhosphoserineBy similarity1
Modified residuei118PhosphoserineBy similarity1
Modified residuei351PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki805Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei821PhosphoserineCombined sources1
Modified residuei844PhosphoserineCombined sources1
Modified residuei861PhosphoserineCombined sources1
Modified residuei936PhosphoserineCombined sources1
Modified residuei1032PhosphoserineCombined sources1
Modified residuei1035PhosphoserineCombined sources1
Modified residuei1092PhosphoserineCombined sources1
Modified residuei1095PhosphoserineCombined sources1
Cross-linki1136Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1930PhosphoserineCombined sources1
Modified residuei1936PhosphoserineCombined sources1
Modified residuei2068PhosphothreonineCombined sources1
Modified residuei2083PhosphothreonineCombined sources1
Modified residuei2288PhosphoserineCombined sources1
Modified residuei2348PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9UMN6

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9UMN6

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9UMN6

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9UMN6

PeptideAtlas

More...
PeptideAtlasi
Q9UMN6

PRoteomics IDEntifications database

More...
PRIDEi
Q9UMN6

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
85190 [Q9UMN6-1]
85191 [Q9UMN6-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UMN6

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9UMN6

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed. Highest levels in testis. Also found in brain with higher expression in the cerebellum than in any other region, bone marrow, heart, muscle, kidney, placenta, spleen, thymus, prostate, ovary, intestine, colon, peripheral blood lymphocytes and pancreas. Often amplified in pancreatic carcinomas.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000272333 Expressed in 212 organ(s), highest expression level in testis

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9UMN6 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA006487

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the menin-associated histone methyltransferase complex, at least composed of KMT2B/MLL4, ASH2L, RBBP5, WDR5, DPY30, MEN1; the complex interacts with POLR2A and POLR2B via MEN1.

Interacts with NFE2.

Interacts with KDM6B.

Interacts (via WIN motif) with WDR5 (PubMed:22665483, PubMed:22266653, PubMed:18840606).

Interacts (via MBM motif) with MEN1 (PubMed:22327296).

7 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115104, 42 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9UMN6

Database of interacting proteins

More...
DIPi
DIP-34598N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q9UMN6

Protein interaction database and analysis system

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IntActi
Q9UMN6, 55 interactors

Molecular INTeraction database

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MINTi
Q9UMN6

STRING: functional protein association networks

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STRINGi
9606.ENSP00000398837

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q9UMN6

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

12715
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9UMN6

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1727 – 1783FYR N-terminalPROSITE-ProRule annotationAdd BLAST57
Domaini2411 – 2492FYR C-terminalPROSITE-ProRule annotationAdd BLAST82
Domaini2575 – 2691SETPROSITE-ProRule annotationAdd BLAST117
Domaini2699 – 2715Post-SETPROSITE-ProRule annotationAdd BLAST17

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni2652 – 2653S-adenosyl-L-methionine bindingBy similarity2

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi17 – 36Menin-binding motif (MBM)1 PublicationAdd BLAST20
Motifi2508 – 2513WDR5 interaction motif (WIN)2 Publications6

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi26 – 37Poly-GlyAdd BLAST12
Compositional biasi248 – 255Poly-Pro8
Compositional biasi362 – 398Asp/Glu-rich (acidic)Add BLAST37
Compositional biasi402 – 771Pro-richAdd BLAST370
Compositional biasi808 – 812Poly-Gln5
Compositional biasi1963 – 1970Poly-Pro8
Compositional biasi2251 – 2259Poly-Pro9

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The CXXC zinc finger mediates binding to DNA containing unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides.1 Publication

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri959 – 1006CXXC-typePROSITE-ProRule annotation1 PublicationAdd BLAST48
Zinc fingeri1201 – 1252PHD-type 1PROSITE-ProRule annotationAdd BLAST52
Zinc fingeri1249 – 1303PHD-type 2PROSITE-ProRule annotationAdd BLAST55
Zinc fingeri1335 – 1396PHD-type 3PROSITE-ProRule annotationAdd BLAST62
Zinc fingeri1578 – 1618C2HC pre-PHD-typePROSITE-ProRule annotationAdd BLAST41
Zinc fingeri1639 – 1686PHD-type 4PROSITE-ProRule annotationAdd BLAST48

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1084 Eukaryota
COG2940 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000161496

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9UMN6

KEGG Orthology (KO)

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KOi
K14959

Identification of Orthologs from Complete Genome Data

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OMAi
QCALCQQ

Database of Orthologous Groups

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OrthoDBi
738155at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9UMN6

Family and domain databases

Conserved Domains Database

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CDDi
cd15694 ePHD_KMT2B, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.920.10, 1 hit
3.30.40.10, 3 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR036427 Bromodomain-like_sf
IPR034732 EPHD
IPR003889 FYrich_C
IPR003888 FYrich_N
IPR041959 KMT2B_ePHD
IPR016569 MeTrfase_trithorax
IPR003616 Post-SET_dom
IPR001214 SET_dom
IPR002857 Znf_CXXC
IPR011011 Znf_FYVE_PHD
IPR001965 Znf_PHD
IPR019787 Znf_PHD-finger
IPR013083 Znf_RING/FYVE/PHD

Pfam protein domain database

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Pfami
View protein in Pfam
PF05965 FYRC, 1 hit
PF05964 FYRN, 1 hit
PF00628 PHD, 2 hits
PF00856 SET, 1 hit
PF02008 zf-CXXC, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF010354 Methyltransferase_trithorax, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00542 FYRC, 1 hit
SM00541 FYRN, 1 hit
SM00249 PHD, 4 hits
SM00508 PostSET, 1 hit
SM00317 SET, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF57903 SSF57903, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51805 EPHD, 1 hit
PS51543 FYRC, 1 hit
PS51542 FYRN, 1 hit
PS50868 POST_SET, 1 hit
PS50280 SET, 1 hit
PS51058 ZF_CXXC, 1 hit
PS01359 ZF_PHD_1, 3 hits
PS50016 ZF_PHD_2, 3 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9UMN6-1) [UniParc]FASTAAdd to basket
Also known as: Long

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAAAGGGSC PGPGSARGRF PGRPRGAGGG GGRGGRGNGA ERVRVALRRG
60 70 80 90 100
GGATGPGGAE PGEDTALLRL LGLRRGLRRL RRLWAGPRVQ RGRGRGRGRG
110 120 130 140 150
WGPSRGCVPE EESSDGESDE EEFQGFHSDE DVAPSSLRSA LRSQRGRAPR
160 170 180 190 200
GRGRKHKTTP LPPPRLADVA PTPPKTPARK RGEEGTERMV QALTELLRRA
210 220 230 240 250
QAPQAPRSRA CEPSTPRRSR GRPPGRPAGP CRRKQQAVVV AEAAVTIPKP
260 270 280 290 300
EPPPPVVPVK HQTGSWKCKE GPGPGPGTPR RGGQSSRGGR GGRGRGRGGG
310 320 330 340 350
LPFVIKFVSR AKKVKMGQLS LGLESGQGQG QHEESWQDVP QRRVGSGQGG
360 370 380 390 400
SPCWKKQEQK LDDEEEEKKE EEEKDKEGEE KEERAVAEEM MPAAEKEEAK
410 420 430 440 450
LPPPPLTPPA PSPPPPLPPP STSPPPPLCP PPPPPVSPPP LPSPPPPPAQ
460 470 480 490 500
EEQEESPPPV VPATCSRKRG RPPLTPSQRA EREAARAGPE GTSPPTPTPS
510 520 530 540 550
TATGGPPEDS PTVAPKSTTF LKNIRQFIMP VVSARSSRVI KTPRRFMDED
560 570 580 590 600
PPKPPKVEVS PVLRPPITTS PPVPQEPAPV PSPPRAPTPP STPVPLPEKR
610 620 630 640 650
RSILREPTFR WTSLTRELPP PPPAPPPPPA PSPPPAPATS SRRPLLLRAP
660 670 680 690 700
QFTPSEAHLK IYESVLTPPP LGAPEAPEPE PPPADDSPAE PEPRAVGRTN
710 720 730 740 750
HLSLPRFAPV VTTPVKAEVS PHGAPALSNG PQTQAQLLQP LQALQTQLLP
760 770 780 790 800
QALPPPQPQL QPPPSPQQMP PLEKARIAGV GSLPLSGVEE KMFSLLKRAK
810 820 830 840 850
VQLFKIDQQQ QQKVAASMPL SPGGQMEEVA GAVKQISDRG PVRSEDESVE
860 870 880 890 900
AKRERPSGPE SPVQGPRIKH VCRHAAVALG QARAMVPEDV PRLSALPLRD
910 920 930 940 950
RQDLATEDTS SASETESVPS RSRRGKVEAA GPGGESEPTG SGGTLAHTPR
960 970 980 990 1000
RSLPSHHGKK MRMARCGHCR GCLRVQDCGS CVNCLDKPKF GGPNTKKQCC
1010 1020 1030 1040 1050
VYRKCDKIEA RKMERLAKKG RTIVKTLLPW DSDESPEASP GPPGPRRGAG
1060 1070 1080 1090 1100
AGGPREEVVA HPGPEEQDSL LQRKSARRCV KQRPSYDIFE DSDDSEPGGP
1110 1120 1130 1140 1150
PAPRRRTPRE NELPLPEPEE QSRPRKPTLQ PVLQLKARRR LDKDALAPGP
1160 1170 1180 1190 1200
FASFPNGWTG KQKSPDGVHR VRVDFKEDCD LENVWLMGGL SVLTSVPGGP
1210 1220 1230 1240 1250
PMVCLLCASK GLHELVFCQV CCDPFHPFCL EEAERPLPQH HDTWCCRRCK
1260 1270 1280 1290 1300
FCHVCGRKGR GSKHLLECER CRHAYHPACL GPSYPTRATR KRRHWICSAC
1310 1320 1330 1340 1350
VRCKSCGATP GKNWDVEWSG DYSLCPRCTQ LYEKGNYCPI CTRCYEDNDY
1360 1370 1380 1390 1400
ESKMMQCAQC DHWVHAKCEG LSDEDYEILS GLPDSVLYTC GPCAGAAQPR
1410 1420 1430 1440 1450
WREALSGALQ GGLRQVLQGL LSSKVVGPLL LCTQCGPDGK QLHPGPCGLQ
1460 1470 1480 1490 1500
AVSQRFEDGH YKSVHSFMED MVGILMRHSE EGETPDRRAG GQMKGLLLKL
1510 1520 1530 1540 1550
LESAFGWFDA HDPKYWRRST RLPNGVLPNA VLPPSLDHVY AQWRQQEPET
1560 1570 1580 1590 1600
PESGQPPGDP SAAFQGKDPA AFSHLEDPRQ CALCLKYGDA DSKEAGRLLY
1610 1620 1630 1640 1650
IGQNEWTHVN CAIWSAEVFE ENDGSLKNVH AAVARGRQMR CELCLKPGAT
1660 1670 1680 1690 1700
VGCCLSSCLS NFHFMCARAS YCIFQDDKKV FCQKHTDLLD GKEIVNPDGF
1710 1720 1730 1740 1750
DVLRRVYVDF EGINFKRKFL TGLEPDAINV LIGSIRIDSL GTLSDLSDCE
1760 1770 1780 1790 1800
GRLFPIGYQC SRLYWSTVDA RRRCWYRCRI LEYRPWGPRE EPAHLEAAEE
1810 1820 1830 1840 1850
NQTIVHSPAP SSEPPGGEDP PLDTDVLVPG APERHSPIQN LDPPLRPDSG
1860 1870 1880 1890 1900
SAPPPAPRSF SGARIKVPNY SPSRRPLGGV SFGPLPSPGS PSSLTHHIPT
1910 1920 1930 1940 1950
VGDPDFPAPP RRSRRPSPLA PRPPPSRWAS PPLKTSPQLR VPPPTSVVTA
1960 1970 1980 1990 2000
LTPTSGELAP PGPAPSPPPP EDLGPDFEDM EVVSGLSAAD LDFAASLLGT
2010 2020 2030 2040 2050
EPFQEEIVAA GAMGSSHGGP GDSSEEESSP TSRYIHFPVT VVSAPGLAPS
2060 2070 2080 2090 2100
ATPGAPRIEQ LDGVDDGTDS EAEAVQQPRG QGTPPSGPGV VRAGVLGAAG
2110 2120 2130 2140 2150
DRARPPEDLP SEIVDFVLKN LGGPGDGGAG PREESLPPAP PLANGSQPSQ
2160 2170 2180 2190 2200
GLTASPADPT RTFAWLPGAP GVRVLSLGPA PEPPKPATSK IILVNKLGQV
2210 2220 2230 2240 2250
FVKMAGEGEP VPPPVKQPPL PPTISPTAPT SWTLPPGPLL GVLPVVGVVR
2260 2270 2280 2290 2300
PAPPPPPPPL TLVLSSGPAS PPRQAIRVKR VSTFSGRSPP APPPYKAPRL
2310 2320 2330 2340 2350
DEDGEASEDT PQVPGLGSGG FSRVRMKTPT VRGVLDLDRP GEPAGEESPG
2360 2370 2380 2390 2400
PLQERSPLLP LPEDGPPQVP DGPPDLLLES QWHHYSGEAS SSEEEPPSPD
2410 2420 2430 2440 2450
DKENQAPKRT GPHLRFEISS EDGFSVEAES LEGAWRTLIE KVQEARGHAR
2460 2470 2480 2490 2500
LRHLSFSGMS GARLLGIHHD AVIFLAEQLP GAQRCQHYKF RYHQQGEGQE
2510 2520 2530 2540 2550
EPPLNPHGAA RAEVYLRKCT FDMFNFLASQ HRVLPEGATC DEEEDEVQLR
2560 2570 2580 2590 2600
STRRATSLEL PMAMRFRHLK KTSKEAVGVY RSAIHGRGLF CKRNIDAGEM
2610 2620 2630 2640 2650
VIEYSGIVIR SVLTDKREKF YDGKGIGCYM FRMDDFDVVD ATMHGNAARF
2660 2670 2680 2690 2700
INHSCEPNCF SRVIHVEGQK HIVIFALRRI LRGEELTYDY KFPIEDASNK
2710
LPCNCGAKRC RRFLN
Length:2,715
Mass (Da):293,515
Last modified:May 1, 2000 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iC0615B981BBEB7BF
GO
Isoform 2 (identifier: Q9UMN6-2) [UniParc]FASTAAdd to basket
Also known as: Truncated

The sequence of this isoform differs from the canonical sequence as follows:
     532-582: VSARSSRVIK...VPQEPAPVPS → PLSQSLLLPM...PRCPLTGLQL
     583-2715: Missing.

Show »
Length:582
Mass (Da):61,562
Checksum:i8B2EE4B04969CF76
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti834K → E in AAD17932 (PubMed:10409430).Curated1
Sequence conflicti941S → Y in AAD17932 (PubMed:10409430).Curated1
Sequence conflicti1317E → Q in AAD17932 (PubMed:10409430).Curated1
Sequence conflicti1362H → Y in AAD17932 (PubMed:10409430).Curated1
Sequence conflicti1438D → N in AAD17932 (PubMed:10409430).Curated1
Sequence conflicti1918 – 1920PLA → GTR in AAH09337 (PubMed:15489334).Curated3
Sequence conflicti2622D → H in AAD26112 (PubMed:10409430).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061913172T → I. Corresponds to variant dbSNP:rs60207923Ensembl.1
Natural variantiVAR_081649215T → N1 Publication1
Natural variantiVAR_080233545 – 2715Missing in DYT28. 1 PublicationAdd BLAST2171
Natural variantiVAR_080234564 – 2715Missing in DYT28. 1 PublicationAdd BLAST2152
Natural variantiVAR_046563587P → R. Corresponds to variant dbSNP:rs2242519Ensembl.1
Natural variantiVAR_046564754P → L. Corresponds to variant dbSNP:rs179686Ensembl.1
Natural variantiVAR_080235810 – 2715Missing in DYT28. 1 PublicationAdd BLAST1906
Natural variantiVAR_0465651097P → L. Corresponds to variant dbSNP:rs34014681Ensembl.1
Natural variantiVAR_0802361515 – 2715Missing in DYT28. 1 PublicationAdd BLAST1201
Natural variantiVAR_0802371652G → D in DYT28; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1555731832EnsemblClinVar.1
Natural variantiVAR_0802381662F → L in DYT28; unknown pathological significance. 1 Publication1
Natural variantiVAR_0802391705R → Q in DYT28; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1555731980EnsemblClinVar.1
Natural variantiVAR_0802401762R → C in DYT28; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1489232377EnsemblClinVar.1
Natural variantiVAR_0802411781L → P in DYT28; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1555732094EnsemblClinVar.1
Natural variantiVAR_0526531829P → L. Corresponds to variant dbSNP:rs16970649Ensembl.1
Natural variantiVAR_0526542364D → G. Corresponds to variant dbSNP:rs231591Ensembl.1
Natural variantiVAR_0526552408K → N. Corresponds to variant dbSNP:rs36062432Ensembl.1
Natural variantiVAR_0802422517R → W in DYT28; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1057519285EnsemblClinVar.1
Natural variantiVAR_0802432674I → T in DYT28; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1555735051EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_006668532 – 582VSARS…APVPS → PLSQSLLLPMTLQLSLSLGQ WAAPTTSACLDSPLWSPLLL RPRCPLTGLQL in isoform 2. CuratedAdd BLAST51
Alternative sequenceiVSP_006669583 – 2715Missing in isoform 2. CuratedAdd BLAST2133

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AJ007041 mRNA Translation: CAB45385.1
AD000671 Genomic DNA No translation available.
AF186605 mRNA Translation: AAD56420.1
AB002302 mRNA Translation: BAA20763.3
BC009337 mRNA Translation: AAH09337.2
BC007353 mRNA Translation: AAH07353.3
AF104918 mRNA Translation: AAD17932.1
AF105279 mRNA Translation: AAD26113.1
AF105280 mRNA Translation: AAD26112.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS46055.1 [Q9UMN6-1]

NCBI Reference Sequences

More...
RefSeqi
NP_055542.1, NM_014727.2 [Q9UMN6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000420124; ENSP00000398837; ENSG00000272333 [Q9UMN6-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
9757

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9757

UCSC genome browser

More...
UCSCi
uc021usv.1 human [Q9UMN6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ007041 mRNA Translation: CAB45385.1
AD000671 Genomic DNA No translation available.
AF186605 mRNA Translation: AAD56420.1
AB002302 mRNA Translation: BAA20763.3
BC009337 mRNA Translation: AAH09337.2
BC007353 mRNA Translation: AAH07353.3
AF104918 mRNA Translation: AAD17932.1
AF105279 mRNA Translation: AAD26113.1
AF105280 mRNA Translation: AAD26112.1
CCDSiCCDS46055.1 [Q9UMN6-1]
RefSeqiNP_055542.1, NM_014727.2 [Q9UMN6-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3UVMX-ray1.57B2508-2517[»]
4ERZX-ray1.75D/E/F2504-2517[»]
4PZIX-ray2.15A955-1020[»]
SMRiQ9UMN6
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi115104, 42 interactors
CORUMiQ9UMN6
DIPiDIP-34598N
ELMiQ9UMN6
IntActiQ9UMN6, 55 interactors
MINTiQ9UMN6
STRINGi9606.ENSP00000398837

Chemistry databases

BindingDBiQ9UMN6
ChEMBLiCHEMBL2189112

PTM databases

iPTMnetiQ9UMN6
PhosphoSitePlusiQ9UMN6

Polymorphism and mutation databases

BioMutaiKMT2B
DMDMi12643900

Proteomic databases

EPDiQ9UMN6
jPOSTiQ9UMN6
MassIVEiQ9UMN6
PaxDbiQ9UMN6
PeptideAtlasiQ9UMN6
PRIDEiQ9UMN6
ProteomicsDBi85190 [Q9UMN6-1]
85191 [Q9UMN6-2]

Genome annotation databases

EnsembliENST00000420124; ENSP00000398837; ENSG00000272333 [Q9UMN6-1]
GeneIDi9757
KEGGihsa:9757
UCSCiuc021usv.1 human [Q9UMN6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9757
DisGeNETi9757

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KMT2B
GeneReviewsiKMT2B
HGNCiHGNC:15840 KMT2B
HPAiHPA006487
MalaCardsiKMT2B
MIMi606834 gene
617284 phenotype
neXtProtiNX_Q9UMN6
OpenTargetsiENSG00000272333

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1084 Eukaryota
COG2940 LUCA
GeneTreeiENSGT00940000161496
InParanoidiQ9UMN6
KOiK14959
OMAiQCALCQQ
OrthoDBi738155at2759
PhylomeDBiQ9UMN6

Enzyme and pathway databases

ReactomeiR-HSA-3214841 PKMTs methylate histone lysines
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
KMT2B human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
MLL4

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
9757
PharosiQ9UMN6

Protein Ontology

More...
PROi
PR:Q9UMN6

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000272333 Expressed in 212 organ(s), highest expression level in testis
GenevisibleiQ9UMN6 HS

Family and domain databases

CDDicd15694 ePHD_KMT2B, 1 hit
Gene3Di1.20.920.10, 1 hit
3.30.40.10, 3 hits
InterProiView protein in InterPro
IPR036427 Bromodomain-like_sf
IPR034732 EPHD
IPR003889 FYrich_C
IPR003888 FYrich_N
IPR041959 KMT2B_ePHD
IPR016569 MeTrfase_trithorax
IPR003616 Post-SET_dom
IPR001214 SET_dom
IPR002857 Znf_CXXC
IPR011011 Znf_FYVE_PHD
IPR001965 Znf_PHD
IPR019787 Znf_PHD-finger
IPR013083 Znf_RING/FYVE/PHD
PfamiView protein in Pfam
PF05965 FYRC, 1 hit
PF05964 FYRN, 1 hit
PF00628 PHD, 2 hits
PF00856 SET, 1 hit
PF02008 zf-CXXC, 1 hit
PIRSFiPIRSF010354 Methyltransferase_trithorax, 1 hit
SMARTiView protein in SMART
SM00542 FYRC, 1 hit
SM00541 FYRN, 1 hit
SM00249 PHD, 4 hits
SM00508 PostSET, 1 hit
SM00317 SET, 1 hit
SUPFAMiSSF57903 SSF57903, 2 hits
PROSITEiView protein in PROSITE
PS51805 EPHD, 1 hit
PS51543 FYRC, 1 hit
PS51542 FYRN, 1 hit
PS50868 POST_SET, 1 hit
PS50280 SET, 1 hit
PS51058 ZF_CXXC, 1 hit
PS01359 ZF_PHD_1, 3 hits
PS50016 ZF_PHD_2, 3 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKMT2B_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9UMN6
Secondary accession number(s): O15022
, O95836, Q96GP2, Q96IP3, Q9UK25, Q9Y668, Q9Y669
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 2000
Last modified: November 13, 2019
This is version 206 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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