InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ASXL2

Summary

InnateDB Protein

IDBP-294740.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ASXL2

Protein Name

additional sex combs like 2 (Drosophila)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000383920

InnateDB Gene

IDBG-34785 (ASXL2)

Protein Structure

UniProt Annotation

Function

Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity). Involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator for PPARG and enhances its adipocyte differentiation-inducing activity; the function seems to involve differential recruitment of acetylated and methylated histone H3. {ECO:0000250, ECO:0000269PubMed:21047783}.

Subcellular Localization

Nucleus {ECO:0000305}.

Disease Associations

Note=A chromosomal aberration involving ASXL2 is a cause of therapy-related myelodysplastic syndrome. Translocation t(2;8)(p23;p11.2) with KAT6A generates a KAT6A-ASXL2 fusion protein.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	12 [view]
Protein-Protein	12 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0042975	peroxisome proliferator activated receptor binding
GO:0046872	metal ion binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0006351	transcription, DNA-templated
GO:0007507	heart development
GO:0007512	adult heart development
GO:0035360	positive regulation of peroxisome proliferator activated receptor signaling pathway
GO:0045600	positive regulation of fat cell differentiation
GO:0045672	positive regulation of osteoclast differentiation
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048704	embryonic skeletal system morphogenesis
GO:1900159	positive regulation of bone mineralization involved in bone maturation
GO:1902466	positive regulation of histone H3-K27 trimethylation