Homo sapiens Gene: MLL2
Summary
InnateDB Gene IDBG-30867.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MLL2
Gene Name myeloid/lymphoid or mixed-lineage leukemia 2
Synonyms AAD10; ALR; CAGL114; KABUK1; KMS; MLL2; MLL4; TNRC21;
Species Homo sapiens
Ensembl Gene ENSG00000167548
Encoded Proteins
myeloid/lymphoid or mixed-lineage leukemia 2
myeloid/lymphoid or mixed-lineage leukemia 2
myeloid/lymphoid or mixed-lineage leukemia 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:49018975-49059774
Strand Reverse strand
Band q13.12
Transcripts
ENST00000301067 ENSP00000301067
ENST00000526209 ENSP00000435714
ENST00000552391
ENST00000549743
ENST00000549799
ENST00000550356
ENST00000547610 ENSP00000449455
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 39 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.
Experimentally validated
Total 39 [view]
Protein-Protein 39 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 9 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0008168 methyltransferase activity
GO:0008270 zinc ion binding
GO:0018024 histone-lysine N-methyltransferase activity
GO:0044212 transcription regulatory region DNA binding
Biological Process
GO:0001555 oocyte growth
GO:0006342 chromatin silencing
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0008284 positive regulation of cell proliferation
GO:0032259 methylation
GO:0033148 positive regulation of intracellular estrogen receptor signaling pathway
GO:0043627 response to estrogen
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048477 oogenesis
GO:0051568 histone H3-K4 methylation
Cellular Component
GO:0005634 nucleus
GO:0035097 histone methyltransferase complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling pathway
Signaling by WNT in cancer pathway
Signaling by Wnt pathway
deactivation of the beta-catenin transactivating complex pathway
Signal Transduction pathway
TCF dependent signaling in response to WNT pathway
RNF mutants show enhanced WNT signaling and proliferation pathway
formation of the beta-catenin:TCF transactivating complex pathway
XAV939 inhibits tankyrase, stabilizing AXIN pathway
Disease pathway
KEGG
Lysine degradation pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL F8VWW4
UniProt Splice Variant
Entrez Gene 8085
UniGene Hs.731384
RefSeq NM_003482 XM_005269162 XM_006719614 XM_006719615 XM_006719616
HUGO HGNC:7133
OMIM 602113
CCDS CCDS44873
HPRD 03664
IMGT
EMBL AC011603
GenPept
RNA Seq Atlas 8085