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KMT2B
HPA
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  • SUMMARY

  • TISSUE

  • BRAIN

  • SINGLE CELL

  • SUBCELL

  • CANCER

  • BLOOD

  • CELL LINE

  • STRUCT & INT

  • KMT2B
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
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.

KMT2B
Synonyms CXXC10, HRX2, KIAA0304, MLL1B, MLL2, MLL4, TRX2, WBP7
Gene descriptioni

Full gene name according to HGNC.

Lysine methyltransferase 2B
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
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)
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 19
Cytoband q13.12
Chromosome location (bp) 35717973 - 35738880
Number of transcriptsi

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

12
Ensembl ENSG00000272333 (version 109)
Entrez gene 9757
HGNC HGNC:15840
UniProt Q9UMN6 (UniProt - Evidence at protein level)
neXtProt NX_Q9UMN6
GeneCards KMT2B
Antibodypedia KMT2B antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism. Part of chromatin remodeling machinery predominantly forms H3K4me1 and H3K4me2 methylation marks at active chromatin sites where transcription and DNA repair take place 1, 2. Likely plays a redundant role with KMT2C in enriching H3K4me1 marks on primed and active enhancer elements 3. Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2 4. 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).... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Chromatin regulator, DNA-binding, Methyltransferase, Transferase
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Transcription, Transcription regulation
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

Metal-binding, S-adenosyl-L-methionine, Zinc
Gene summary (Entrez)i

Useful information about the gene from Entrez

This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008]... show less
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 Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
KMT2B-201
ENSP00000398837
ENST00000420124
Q9UMN6
[Direct mapping] Histone-lysine N-methyltransferase 2B
Show all
Enzymes
   ENZYME proteins
   Transferases
Metabolic proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
Disease related genes
Potential drug targets
Human disease related genes
   Cancers
   Cancers of haematopoietic and lymphoid tissues
   Nervous system diseases
   Other nervous and sensory system diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006325 [chromatin organization]
GO:0006355 [regulation of DNA-templated transcription]
GO:0008168 [methyltransferase activity]
GO:0008270 [zinc ion binding]
GO:0016740 [transferase activity]
GO:0032259 [methylation]
GO:0035097 [histone methyltransferase complex]
GO:0042800 [histone methyltransferase activity (H3-K4 specific)]
GO:0044648 [histone H3-K4 dimethylation]
GO:0044665 [MLL1/2 complex]
GO:0045322 [unmethylated CpG binding]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0046872 [metal ion binding]
GO:0051568 [histone H3-K4 methylation]
GO:0097692 [histone H3-K4 monomethylation]
GO:0140945 []
Show all
2715 aa
293.5 kDa
No 0
KMT2B-206
ENSP00000501283
ENST00000673918
A0A669KBI7
[Direct mapping] [Histone H3]-lysine(4) N-methyltransferase
Show all
Metabolic proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
Human disease related genes
   Cancers
   Cancers of haematopoietic and lymphoid tissues
   Nervous system diseases
   Other nervous and sensory system diseases
Show all
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006325 [chromatin organization]
GO:0006355 [regulation of DNA-templated transcription]
GO:0008168 [methyltransferase activity]
GO:0008270 [zinc ion binding]
GO:0016740 [transferase activity]
GO:0032259 [methylation]
GO:0035097 [histone methyltransferase complex]
GO:0042800 [histone methyltransferase activity (H3-K4 specific)]
GO:0045322 [unmethylated CpG binding]
GO:0046872 [metal ion binding]
GO:0051568 [histone H3-K4 methylation]
Show all
2693 aa
291.1 kDa
No 0
KMT2B-208
ENSP00000501226
ENST00000674101
A0A669KBD5
[Direct mapping] Histone-lysine N-methyltransferase 2B
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
Human disease related genes
   Cancers
   Cancers of haematopoietic and lymphoid tissues
   Nervous system diseases
   Other nervous and sensory system diseases
Show all
GO:0005634 [nucleus]
Show all
242 aa
26.5 kDa
No 0
KMT2B-212
ENSP00000510651
ENST00000685168
A0A8I5QJW0
[Direct mapping] Histone-lysine N-methyltransferase 2B
Show all
Metabolic proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
Human disease related genes
   Cancers
   Cancers of haematopoietic and lymphoid tissues
   Nervous system diseases
   Other nervous and sensory system diseases
Show all
GO:0005634 [nucleus]
GO:0046872 [metal ion binding]
Show all
364 aa
40 kDa
No 0
KMT2B-214
ENSP00000508975
ENST00000686920
A0A8I5KUC7
[Direct mapping] Histone-lysine N-methyltransferase 2B
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
Human disease related genes
   Cancers
   Cancers of haematopoietic and lymphoid tissues
   Nervous system diseases
   Other nervous and sensory system diseases
Show all
84 aa
9.6 kDa
No 0
KMT2B-216
ENSP00000509761
ENST00000689139
A0A8I5KVT4
[Direct mapping] Histone-lysine N-methyltransferase 2B
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
Human disease related genes
   Cancers
   Cancers of haematopoietic and lymphoid tissues
   Nervous system diseases
   Other nervous and sensory system diseases
Show all
GO:0003677 [DNA binding]
GO:0008270 [zinc ion binding]
GO:0046872 [metal ion binding]
Show all
842 aa
89.8 kDa
No 0
KMT2B-219
ENSP00000509970
ENST00000689929
A0A8I5KR41
[Direct mapping] Histone-lysine N-methyltransferase 2B
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
Human disease related genes
   Cancers
   Cancers of haematopoietic and lymphoid tissues
   Nervous system diseases
   Other nervous and sensory system diseases
Show all
GO:0005634 [nucleus]
Show all
154 aa
17.2 kDa
No 0
KMT2B-220
ENSP00000510450
ENST00000690290
A0A8I5KWL4
[Direct mapping] Histone-lysine N-methyltransferase 2B
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
Human disease related genes
   Cancers
   Cancers of haematopoietic and lymphoid tissues
   Nervous system diseases
   Other nervous and sensory system diseases
Show all
GO:0005515 [protein binding]
GO:0046872 [metal ion binding]
Show all
179 aa
19.9 kDa
No 0
KMT2B-222
ENSP00000508674
ENST00000691421
A0A8I5KUL1
[Direct mapping] Histone-lysine N-methyltransferase 2B
Show all
Metabolic proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
Human disease related genes
   Cancers
   Cancers of haematopoietic and lymphoid tissues
   Nervous system diseases
   Other nervous and sensory system diseases
Show all
GO:0005634 [nucleus]
GO:0046872 [metal ion binding]
Show all
763 aa
80.5 kDa
No 0
KMT2B-226
ENSP00000509532
ENST00000693161
A0A8I5KY89
[Direct mapping] Histone-lysine N-methyltransferase 2B
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
Human disease related genes
   Cancers
   Cancers of haematopoietic and lymphoid tissues
   Nervous system diseases
   Other nervous and sensory system diseases
Show all
GO:0005634 [nucleus]
Show all
167 aa
18.2 kDa
No 0
KMT2B-228
ENSP00000509503
ENST00000693540
A0A8I5KTD0
[Direct mapping] Histone-lysine N-methyltransferase 2B
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
Human disease related genes
   Cancers
   Cancers of haematopoietic and lymphoid tissues
   Nervous system diseases
   Other nervous and sensory system diseases
Show all
GO:0046872 [metal ion binding]
Show all
187 aa
21 kDa
No 0
KMT2B-229
ENSP00000509779
ENST00000693677
A0A8I5KWS6
[Direct mapping] [Histone H3]-lysine(4) N-methyltransferase
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
Human disease related genes
   Cancers
   Cancers of haematopoietic and lymphoid tissues
   Nervous system diseases
   Other nervous and sensory system diseases
Show all
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006325 [chromatin organization]
GO:0008168 [methyltransferase activity]
GO:0016740 [transferase activity]
GO:0032259 [methylation]
Show all
630 aa
70.6 kDa
No 0

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