ASXL2 (ASXL transcriptional regulator 2)

2012-11-01 Affiliation

Identity

HGNC

ASXL2

LOCATION

2p23.3

LOCUSID

55252

ALIAS

ASXH2,SHAPNS

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 55252
MIM: 612991
HGNC: 23805
Ensembl: ENSG00000143970

Variants:

dbSNP: 55252
ClinVar: 55252
TCGA: ENSG00000143970
COSMIC: ASXL2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000143970	ENST00000336112	E7EWD6
ENSG00000143970	ENST00000404843	Q76L83
ENSG00000143970	ENST00000435504	Q76L83

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Deubiquitination	REACTOME	R-HSA-5688426
UCH proteinases	REACTOME	R-HSA-5689603

References

Pubmed ID	Year	Title	Citations
27798625	2016	The genomic landscape of core-binding factor acute myeloid leukemias.	59
24973361	2014	Frequent ASXL2 mutations in acute myeloid leukemia patients with t(8;21)/RUNX1-RUNX1T1 chromosomal translocations.	35
21047783	2011	Additional sex comb-like (ASXL) proteins 1 and 2 play opposite roles in adipogenesis via reciprocal regulation of peroxisome proliferator-activated receptor {gamma}.	26
26416890	2015	The BAP1/ASXL2 Histone H2A Deubiquitinase Complex Regulates Cell Proliferation and Is Disrupted in Cancer.	22
17672918	2007	Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.	17
25835095	2015	Functional proteomics of the epigenetic regulators ASXL1, ASXL2 and ASXL3: a convergence of proteomics and epigenetics for translational medicine.	16
27693232	2016	De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.	16
28516957	2017	ASXL2 is essential for haematopoiesis and acts as a haploinsufficient tumour suppressor in leukemia.	12
26640146	2016	ASXL2 promotes proliferation of breast cancer cells by linking ERα to histone methylation.	11
30251205	2019	Clinical significance of ASXL2 and ZBTB7A mutations and C-terminally truncated RUNX1-RUNX1T1 expression in AML patients with t(8;21) enrolled in the JALSG AML201 study.	6

Citation

Dessen P

ASXL2 (ASXL transcriptional regulator 2)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/52971/asxl2