Target intelligence / Profile preview

Additional sex combs like 2, transcriptional regulator (ASXL2)

Target
ASXL2
Molecular classification
Epigenetic regulator, Transcriptional regulator, Polycomb group (PcG) protein, Histone modification-related protein
01

Overview

Additional sex combs like 2, transcriptional regulator (ASXL2) is an epigenetic scaffold protein that binds to histone-modifying complexes and regulates transcription through modulating chromatin structure[2][1][4]. ASXL2 acts as a putative Polycomb group (PcG) protein and participates in multi-protein complexes crucial for maintaining repressive chromatin states during development[2]. It functions as a co-activator for nuclear hormone receptors such as peroxisome proliferator-activated receptor gamma (PPARG), thus enhancing adipocyte differentiation activity[1][2]. ASXL2 participates in the PR-DUB complex to mediate deubiquitination of histone H2A, and is essential for chromatin recruitment and transcriptional activation of developmentally important genes[2]. Mutations in ASXL2 are associated with various developmental syndromes, autism spectrum disorder, and multiple cancers, acting as either a tumor suppressor or oncogene in a context-dependent manner[1][2][4]. ASXL2 function is critical in neurodevelopment, cardiac function, and bone metabolism[2].

Other names
ASXL2ASXH2SHAPNSadditional sex combs like 2, transcriptional regulatorASXL transcriptional regulator 2[4]
02

Biological functions

Chromatin remodelingTranscriptional regulationRegulation of homeotic (HOX) genesAdipocyte differentiationCardiac developmentNeurodevelopmentOsteoclastogenesis
03

Disease associations

Cancer (breast, bladder, pancreas, ovary, prostate, blood)Shashi-Pena syndromeAutism spectrum disorderCardiac disease
04

Safety considerations

Cancer-associated mutations (gain-of-function or loss-of-function)involvement in tumorigenesis if mutated

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