Ask about this productRelated genes to: ASXL2 Blocking Peptide
- Gene:
- ASXL2 NIH gene
- Name:
- ASXL transcriptional regulator 2
- Previous symbol:
- -
- Synonyms:
- ASXH2, FLJ10898, KIAA1685
- Chromosome:
- 2p23.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-12-11
- Date modifiied:
- 2018-05-10
Related products to: ASXL2 Blocking Peptide
Related articles to: ASXL2 Blocking Peptide
- The human ASXL gene family consists of ASXL1, ASXL2, and ASXL3, first described as the additional sex combs (Asx) in Drosophila. The encoded proteins scaffold BAP1-mediated histone H2A deubiquitination. ASXL genes are implicated in pre-cancerous, cancerous, and neurodevelopmental conditions. Truncating mutations predominate and were originally predicted to result in protein loss of function (LOF); however, mounting evidence from population genetics and in vitro studies supports gain-of-function (GOF) mechanisms. Sequence analysis suggests that such mechanisms require both escape from nonsense-mediated mRNA decay and removal of a putative C-terminal degron signal within ASXL proteins. We propose GOF as a generalized mechanism for ASXL mutations, resulting in increased protein stability and altered histone modifications, with implications for diagnosis and therapy for these medical conditions. - Source: PubMed
Publication date: 2026/03/31
Nakamura YujiNguyen ToanMor NofarTorio Christopher JThulaseedharan HarikrishnaDominissini DanGleeson Joseph G - Preeclampsia, a life-threatening hypertensive disorder of pregnancy, is a leading cause of maternal and perinatal morbidity and mortality. Its early-onset form (EO-PE), requiring delivery before 34 weeks of gestation, is particularly severe and closely linked to defective trophoblast differentiation. Here, we identify BRCA1-associated protein 1 (BAP1) and its cofactors ASXL2 and ASXL3 as upregulated in EO-PE placentas. Enforced BAP1 expression in human trophoblast stem cells reinforced epithelial identity, enhanced adhesion, and impaired both extravillous trophoblast differentiation and syncytiotrophoblast formation. Integrated transcriptomic and proteomic analyses revealed suppression of lineage-specific pathways alongside maintenance of progenitor-like and pro-inflammatory signatures. In trophoblast organoids, an excess of BAP1 disrupted syncytial maturation and induced interferon-driven pathways overlapping with EO-PE transcriptomes. Together, these findings establish BAP1 as a key regulator of human trophoblast differentiation and implicate its dysregulation in the pathogenesis of EO-PE, providing mechanistic insight into the cellular basis of placental dysfunction. - Source: PubMed
Publication date: 2026/03/26
Doria-Borrell PaulaFerrero-Micó AnaNavarro-Serna SergioMellado-López MaravillasGrinat JohannaMurphy Ciara NYoussef LinaCrispi FàtimaJ Kaitu'u-Lino Tu'uhevahaPérez-García Vicente - Chronic hypoxia disrupts spermatogenesis by blocking the round-to-elongated spermatid transition, a process governed by the additional sex combs-like 2 (ASXL2)-enhancer of zeste homolog 2 (EZH2) axis. Hypoxia downregulates ASXL2 expression, which reduces EZH2 binding to the 3482-3511 bp region of the CEP162 promoter. This impairment decreases H3K27me3 modification while increasing CEP162 transcription. Overexpressed CEP162 competes with TUBA3A for TUBB3 binding. This competition depletes ciliary TUBB3 levels, destabilizing axonemal microtubules. These structural defects are correlated with sperm malformations and functional deficiencies. In infertile men, diminished ASXL2 and EZH2 expression highlights the therapeutic potential of targeting this axis for hypoxia-related spermatogenic disorders. - Source: PubMed
Publication date: 2026/03/04
Yin JunZhang MengjieLiu WenyingShen WenlongLi DebaoMiao HongmingDeng FangZhang GangTian YiZhang YiZhao ZhihuNi Bing - Limited studies have been conducted on pubertal development in populations with pre-existing medical conditions. More than 20-fold increased risk of early puberty has been reported in neurodevelopmental disorders; however, this is a heterogeneous group. There have been limited past studies examining the timing, duration, or characteristics of pubertal or menstrual cycle development in patients with ASXL-related disorders. This study aimed to gather empirical cross-sectional parent survey data regarding pubertal development in adolescents diagnosed with Bohring-Opitz syndrome (BOS) (ASXL1), Shashi-Pena syndrome (SPS) (ASXL2), or Bainbridge-Ropers syndrome (BRS) (ASXL3). Our findings showed evidence for parental and perceived provider concern for premature pubarche and possible precocious puberty (PP) in BOS (ASXL1) males and females. Findings between the BOS (ASXL1) and BRS (ASXL3) individuals differed, representing distinct pubertal phenotypes within these populations. Notable trends toward premature development may warrant a low threshold for pediatric endocrinological evaluation in this population. The characterization and description of a pubertal profile for the ASXL-related syndromes can help inform providers and parents when navigating this stage of development. Our study findings also highlight the need for prospective natural history studies to further define the contribution of pubertal development to the ASXL disorders phenotypes. - Source: PubMed
Publication date: 2025/08/13
Piring AmandaHicks RebeccaSloan JuliaRamires-Sanchez EstefaniaRussell Bianca E - An early adolescent male with Shashi-Pena syndrome (SPS), characterised by a novel heterozygous pathogenic variant (*22) in the gene, presented with a spectrum of manifestations. These encompassed intellectual disability, severe scoliosis, unique facial dysmorphisms, congenital heart disease, recurrent infections and autoimmune cytopenia. Distinctively, this case revealed late-onset hypogammaglobulinaemia and autoimmune cytopenia, which had not been previously documented in SPS. To our knowledge, this is the first report clinically delineating immune system involvement in a patient with SPS, thereby accentuating the significance of evaluating for immunodeficiency in the presence of Additional Sex Combs-Like () gene anomalies, particularly against a backdrop of recurrent infections and autoimmune presentations. The implications of this case encourage further investigation into the incidence and underlying mechanisms of immune dysregulation in -related syndromes, aiming to enrich the clinical understanding and enhance the therapeutic approaches for these complex conditions. - Source: PubMed
Publication date: 2025/08/04
Al Ali AdnanSaidalani AshwagYeganeh MehdiRussell LauraAlizadehfar RezaNoya FranciscoMcCusker ChristineMazer Bruce