Mus musculus Gene: Mll2
Summary
InnateDB Gene IDBG-181423.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Mll2
Gene Name myeloid/lymphoid or mixed-lineage leukemia 2
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000048154
Encoded Proteins
myeloid/lymphoid or mixed-lineage leukemia 2
lysine (K)-specific methyltransferase 2D
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000167548:
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 15:98831669-98871204
Strand Reverse strand
Band F1
Transcripts
ENSMUST00000023741 ENSMUSP00000023741
ENSMUST00000178486 ENSMUSP00000135941
ENSMUST00000184363 ENSMUSP00000139020
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 29 interaction(s) predicted by orthology.
Experimentally validated
Total 17 [view]
Protein-Protein 16 [view]
Protein-DNA 0
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 29 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
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:0001701 in utero embryonic development
GO:0006342 chromatin silencing
GO:0006351 transcription, DNA-templated
GO:0008284 positive regulation of cell proliferation
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
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Disease pathway
Signaling by Wnt pathway
Signaling by WNT in cancer pathway
deactivation of the beta-catenin transactivating complex pathway
formation of the beta-catenin:TCF transactivating complex pathway
misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling pathway
RNF mutants show enhanced WNT signaling and proliferation pathway
TCF dependent signaling in response to WNT pathway
Signal Transduction pathway
XAV939 inhibits tankyrase, stabilizing AXIN pathway
KEGG
Lysine degradation pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
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 NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.264889 Mm.408958 Mm.448837 Mm.489940
RefSeq NM_001033276
OMIM
CCDS CCDS49725
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas