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FLASH GENE

Symbol

ASXL2

contributors: mct/npt/pgu - updated : 29-11-2016

HGNC name	additional sex combs like 2 (Drosophila)
HGNC id	23805

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SHAPNS Shashi-Pena syndrome
Location	2p23.3      Physical location : 25.962.252 - 26.101.312
Synonym name	polycomb group protein ASXH2
Synonym symbol(s)	ASXH2, FLJ10898, KIAA1685, DKFZp686C1968

DNA

TYPE	functioning gene
STRUCTURE	139.06 kb     12 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_018263 12 - 7174 NP_060733 - 1435 - 2003 12888926

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Homo sapiens Digestive intestine large intestine colon     Reproductive female system breast     highly   male system testis       Urinary bladder       highly Visual eye retina     highly

cells

System Cell Pubmed Species Stage Rna symbol Reproductive spermatogonia

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	developing oocytes

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	ASXN domain (codon 1-8)
	ASXM domain (codon 269-380)
	PHD domain (codon 1400-1431)

HOMOLOGY

interspecies

homolog to ASXL1

Homologene

FAMILY

ASXL family, Enhancers of trithorax and Polycomb (ETP)family

CATEGORY

protooncogene

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm

basic FUNCTION	predicted cancer-associated gene
	may be having a role in the heart, suggesting that the Polycomb-group (PcG)/trithorax-group (trxG) system may be involved in the regulation of cardiac function
	promotes transactivation activity of ligand-bound PPARG, as well as its adipocyte differentiation-inducing activity
	ASXL1 and ASXL2 reciprocally regulate adipogenesis
	ASXL1 acts as a corepressor in PPAR-mediated transcription, whereas ASXL2 acts as a coactivator
	is required for the long-term maintenance of ventricular function and for the maintenance of normal cardiac gene expression
	having function in the adult heart to regulate cell type- and stage-specific patterns of gene expression, and the disruption of such regulation may be involved in the etiology and/or development of certain forms of human heart disease
	reciprocal role of the ASXL1, ASXL2 in lipid homeostasis through the opposite regulation of NR1H3
	ASXL2 and ASXL1, two homologous chromatin factors, are novel regulators of heart development
	ASXL2 plays an important role in heart morphogenesis and the transition from fetal to postnatal circulation
	is required for proper heart development and function
	ASXL2 and WTIP are involved in regulation of retinoic acid signaling during heart development
	is a master regulator of skeletal, lipid, and glucose homeostasis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	ASXL2 increased NR1H3 activity through direct interaction in the presence of the ligand
	WTIP is a ASXL2-binding partner
	interacts with PPARG
	ASXL1 and ASXL2 use their ASXM domains to interact with the C-terminal domain (CTD) of BAP1, and these interactions are required for ubiquitin binding and HIST2H2AC deubiquitination
	BAP1 interaction with ASXL2 regulates cell senescence and ASXL2 cancer-associated mutations disrupt BAP1 DUB activity

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SHAPNS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       fusion with EPC1 (EPC1/ASXL2 enhanced cell growth in T-leukemia cells)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Asxl2-/- mice display congenital heart malformations including a thickened compact myocardium in the left ventricle, membranous ventricular septal defects, and dilated cardiomyopathy
	Asxl2-/- mice are insulin resistant, lipodystrophic, and fail to respond to a high-fat diet