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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ASXL2
ASXL transcriptional regulator 2
Chromosome 2 Β· 2p23.3
NCBI Gene: 55252Ensembl: ENSG00000143970.18HGNC: HGNC:23805UniProt: Q76L83
74PubMed Papers
21Diseases
0Drugs
28Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnucleoplasmpositive regulation of peroxisome proliferator activated receptor signaling pathwaypositive regulation of fat cell differentiationShashi-Pena syndromeAbnormality of the skeletal systemgenetic disordersyndromic intellectual disability
✦AI Summary

ASXL2 is an epigenetic regulator and component of the PR-DUB (Polycomb repressive deubiquitinase) complex that functions as a transcriptional coactivator 12. As a putative Polycomb group protein, ASXL2 maintains transcriptionally repressive chr2 states through histone modification, particularly via deubiquitination of histone H2A at lysine 119 (H2AK119ub1) 12. ASXL2 enhances adipocyte differentiation by acting as a coactivator for peroxisome proliferator-activated receptor gamma (PPARG) through differential recruitment of acetylated and methylated histone H3 [UniProt]. Additionally, ASXL2 recruits the deubiquitinase BAP1 to active enhancers through interaction with MLL3/4 complexes 3. The protein also regulates retinoic acid signaling during cardiac development 4. Recurrent ASXL2 mutations occur in core-binding factor acute myeloid leukemia (CBF-AML), particularly in RUNX1-RUNX1T1 cases, suggesting a cooperating role in leukemogenesis 56. ASXL2 is located on chromosome 2.3, a recombination hotspot associated with carcinogenesis 7. Loss-of-function ASXL2 variants cause Shashi-Pena syndrome, characterized by developmental delay, cardiac dysfunction, and feeding difficulties 8.

Sources cited
1
ASXL2 is a non-catalytic component of the PR-DUB complex that mediates deubiquitination of H2AK119ub1 and functions as a transcriptional coactivator
PMID: 30664650
2
PR-DUB complex containing ASXL2 is an epigenetic regulator affecting genes involved in development, cell communication, and cell proliferation
PMID: 36180891
3
ASXL2 binds to PHD2/3 fingers of MLL4 to recruit BAP1 to active enhancers
PMID: 38849395
4
ASXL2 enhances retinoic acid-dependent transcription and is required for heart development
PMID: 25065743
5
ASXL2 mutations are enriched in core-binding factor AML with RUNX1-RUNX1T1 rearrangements
PMID: 27798625
6
ASXL2 mutations occur in 33.3% of t(8;21) AML patients and show mutual exclusivity with ASXL1 mutations
PMID: 33812414
7
ASXL2 is mapped to chromosome 2p23.3 and predicted as a cancer-associated gene based on functional conservation with Polycomb group proteins
PMID: 12888926
8
Pathogenic ASXL2 variants cause Shashi-Pena syndrome with developmental delay, cardiac dysfunction, and feeding difficulties
PMID: 35182806
Disease Associationsβ“˜21
Shashi-Pena syndromeOpen Targets
0.76Strong
Abnormality of the skeletal systemOpen Targets
0.42Moderate
genetic disorderOpen Targets
0.42Moderate
syndromic intellectual disabilityOpen Targets
0.41Moderate
urinary bladder cancerOpen Targets
0.40Moderate
neurodegenerative diseaseOpen Targets
0.35Weak
acute myeloid leukemiaOpen Targets
0.34Weak
atrial fibrillationOpen Targets
0.33Weak
goutOpen Targets
0.32Weak
hypertensionOpen Targets
0.31Weak
autism spectrum disorderOpen Targets
0.27Weak
hypertrophic cardiomyopathyOpen Targets
0.26Weak
psoriasisOpen Targets
0.25Weak
hepatocellular carcinomaOpen Targets
0.20Weak
head and neck squamous cell carcinomaOpen Targets
0.20Weak
multiple myelomaOpen Targets
0.20Weak
esophageal squamous cell carcinomaOpen Targets
0.19Weak
small cell lung carcinomaOpen Targets
0.19Weak
pancreatic carcinomaOpen Targets
0.19Weak
melanomaOpen Targets
0.19Weak
Shashi-Pena syndromeUniProt
Pathogenic Variants28
NM_018263.6(ASXL2):c.1253del (p.Ser418fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 418
NM_018263.6(ASXL2):c.2837_2841del (p.Ile946fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 946
NM_018263.6(ASXL2):c.2762dup (p.Ala922fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 922
NM_018263.6(ASXL2):c.3658_3659del (p.Leu1220fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1220
NM_018263.6(ASXL2):c.1288G>T (p.Glu430Ter)Pathogenic
Shashi-Pena syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 430
NM_018263.6(ASXL2):c.1840C>T (p.Arg614Ter)Pathogenic
Shashi-Pena syndrome|Neoplasm
β˜…β˜†β˜†β˜†2024β†’ Residue 614
NM_018263.6(ASXL2):c.2693del (p.Lys898fs)Likely pathogenic
Shashi-Pena syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 898
NM_018263.6(ASXL2):c.2641del (p.Ala881fs)Likely pathogenic
Shashi-Pena syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 881
NM_018263.6(ASXL2):c.1471C>T (p.Gln491Ter)Likely pathogenic
Shashi-Pena syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 491
NM_018263.6(ASXL2):c.2729dup (p.Ala911fs)Likely pathogenic
Shashi-Pena syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 911
NM_018263.6(ASXL2):c.1143-1G>TLikely pathogenic
Shashi-Pena syndrome
β˜…β˜†β˜†β˜†2022
NM_018263.6(ASXL2):c.2707C>T (p.Gln903Ter)Likely pathogenic
Shashi-Pena syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 903
NM_018263.6(ASXL2):c.2326A>C (p.Thr776Pro)Likely pathogenic
Autism spectrum disorder
β˜…β˜†β˜†β˜†2022β†’ Residue 776
NM_018263.6(ASXL2):c.3424del (p.His1142fs)Likely pathogenic
Shashi-Pena syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 1142
NM_018263.6(ASXL2):c.1309C>T (p.Gln437Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 437
NM_018263.6(ASXL2):c.4228T>G (p.Cys1410Gly)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 1410
NM_018263.6(ASXL2):c.1242_1243del (p.Ser415fs)Pathogenic
Shashi-Pena syndrome
β˜…β˜†β˜†β˜†2018β†’ Residue 415
NM_018263.6(ASXL2):c.1228A>T (p.Lys410Ter)Pathogenic
Shashi-Pena syndrome
β˜…β˜†β˜†β˜†2018β†’ Residue 410
NM_018263.6(ASXL2):c.2606del (p.Pro868_Ser869insTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 868
NM_018263.6(ASXL2):c.2424del (p.Thr809fs)Pathogenic
Shashi-Pena syndrome
β˜…β˜†β˜†β˜†2017β†’ Residue 809
View on ClinVar β†—
Related Genes
EZH2Protein interaction100%RING1Protein interaction100%FOXK2Protein interaction95%OGTProtein interaction95%KDM1BProtein interaction95%HCFC1Protein interaction94%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
77%
Brain
76%
Lung
69%
Liver
47%
Ovary
46%
Gene Interaction Network
Click a node to explore
ASXL2EZH2RING1FOXK2OGTKDM1BHCFC1
PROTEIN STRUCTURE
Preparing viewer…
PDB9ATN Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.24Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.16 [0.11–0.24]
RankingsWhere ASXL2 stands among ~20K protein-coding genes
  • #6,379of 20,598
    Most Researched74
  • #1,873of 5,498
    Most Pathogenic Variants28
  • #694of 17,882
    Most Constrained (LOEUF)0.24 Β· top 5%
Genes detectedASXL2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The genomic landscape of core-binding factor acute myeloid leukemias.
PMID: 27798625
Nat Genet Β· 2016
1.00
2
The cancer driver genes IDH1/2, JARID1C/ KDM5C, and UTX/ KDM6A: crosstalk between histone demethylation and hypoxic reprogramming in cancer metabolism.
PMID: 31221981
Exp Mol Med Β· 2019
0.90
3
Identification and characterization of ASXL2 gene in silico.
PMID: 12888926
Int J Oncol Β· 2003
0.80
4
A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi-Pena syndrome.
PMID: 35182806
Eur J Med Genet Β· 2022
0.70
5
[The Relationship between ASXL2 and ZBTB7A Gene Mutations and Prognosis in Patients with Acute Myeloid Leukemia].
PMID: 33812414
Zhongguo Shi Yan Xue Ye Xue Za Zhi Β· 2021
0.60