Version 5.4
Homo sapiens Gene: KMT2B
Summary
InnateDB Gene IDBG-772747.1
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KMT2B
Gene Name lysine (K)-specific methyltransferase 2B
Synonyms HRX2; MLL1B; MLL2; MLL4; TRX2; WBP-7; WBP7
Species Homo sapiens
Ensembl Gene ENSG00000272333
Encoded Proteins
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:35718019-35738878
Strand Forward strand
Band q13.12
Transcripts
ENST00000606995
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 69 experimentally validated interaction(s) in this database.
Experimentally validated
Total 69 [view]
Protein-Protein 66 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 2 [view]
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0042800 histone methyltransferase activity (H3-K4 specific)
Biological Process
GO:0001541 ovarian follicle development
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0009994 oocyte differentiation
GO:0016458 gene silencing
GO:0030728 ovulation
GO:0034968 histone lysine methylation
GO:0048096 chromatin-mediated maintenance of transcription
GO:0051568 histone H3-K4 methylation
GO:0051569 regulation of histone H3-K4 methylation
GO:0080182 histone H3-K4 trimethylation
Cellular Component
GO:0005634 nucleus
GO:0035097 histone methyltransferase complex
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
KEGG
hsa00310
Lysine degradation pathway
INOH
PID NCI
Cross-References
SwissProt Q9UMN6
TrEMBL
UniProt Splice Variant
Entrez Gene 9757
UniGene
RefSeq NM_014727 XM_006723513 XM_006723514 XM_006723515
HUGO HGNC:15840
OMIM 606834
CCDS CCDS46055
HPRD
IMGT
EMBL AB002302 AD000671 AF104918 AF105279 AF105280 AF186605 AJ007041 BC007353 BC009337
GenPept AAD17932 AAD26112 AAD26113 AAD56420 AAH07353 AAH09337 BAA20763 CAB45385
RNA Seq Atlas 9757

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca