InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-30869

myeloid/lymphoid or mixed-lineage leukemia 2

IDBP-604062

myeloid/lymphoid or mixed-lineage leukemia 2

IDBP-595301

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