Ask about this productRelated genes to: HORMAD2 Blocking Peptide
- Gene:
- HORMAD2 NIH gene
- Name:
- HORMA domain containing 2
- Previous symbol:
- -
- Synonyms:
- MGC26710, CT46.2
- Chromosome:
- 22q12.2
- Locus Type:
- gene with protein product
- Date approved:
- 2005-01-04
- Date modifiied:
- 2019-02-21
Related products to: HORMAD2 Blocking Peptide
Related articles to: HORMAD2 Blocking Peptide
- The synaptonemal complex (SC) is a highly ordered proteinaceous structure that assembles between homologous chromosomes during the prophase I of meiosis. Conserved as a tripartite architecture across species, the SC plays a central role in chromosome synapsis, meiotic recombination, and faithful chromosome segregation. This review marks the 70th anniversary of the discovery of the synaptonemal complex by Montrose Moses in 1956. In mammals, the SC is composed of eight core (canonical) structural proteins: SYCP1, SYCP2, SYCP3, SYCE1, SYCE2, SYCE3, SIX6OS1, and TEX12. The archetypal SC consists of two lateral elements (SYCP2 and SYCP3), a central element (SYCE1/2/3, SIX6OS1, and TEX12), and numerous transverse filaments (SYCP1). A shared structural feature of SC components is the presence of coiled-coil domains. Although the tripartite organization of the SC is evolutionarily conserved, its constituent proteins exhibit little to no sequence homology across species. In addition to these core components, a number of proteins, including HORMAD1, HORMAD2, TRIP13, SKP1, CDCA5 (Sororin), UBE2I (UBC9), SYCP2L, HSPA2, PSMA8, and FKBP6, associate with the SC. Beyond serving as a structural scaffold essential for homolog synapsis, SC proteins interact with key recombination factors such as DMC1, RAD51, and TEX11, thereby regulating recombination progression and crossover formation. Genetic, biochemical, and structural analyses of SC components have provided important mechanistic insights into SC assembly and function, as well as their clinical relevance to non-obstructive azoospermia (NOA) and premature ovarian insufficiency (POI) in humans. - Source: PubMed
Publication date: 2026/04/30
Yang FangWang P Jeremy - IgA nephropathy (IgAN) is a mesangioproliferative glomerulonephritis characterized by IgA1-containing immune-complex deposits wherein IgA1 is enriched for galactose-deficient IgA1 (Gd-IgA1) glycoforms. IgAN pathogenesis involves mucosal immune system, as IgAN onset and activity are associated with infections of the upper-respiratory tract, i.e., synpharyngitic hematuria. Current four-hit hypothesis postulates that multiple events, starting with the production of Gd-IgA1, in genetically susceptible individuals lead to the formation of nephritogenic immune complexes and development of IgAN. Biochemical studies using IgA1-producing cell lines derived from the peripheral blood of IgAN patients and healthy controls revealed that secretion of Gd-IgA1 is due to dysregulated expression of several -glycosylation enzymes. Production of Gd-IgA1 can be further upregulated by some cytokines. Genome-wide association studies identified multiple candidate genes for IgAN, serum levels of IgA, and serum levels of Gd-IgA1. Some of the IgAN-associated genes are also found in other autoimmune diseases and conditions. Notably, locus is associated with IgAN, serum levels of IgA, and tonsillectomy. In this review, we detail various findings concerning IgAN and Gd-IgA1 production by cells derived from the circulation and tonsils. Also, as tonsillectomy is commonly used in Japan as a part of treatment for IgAN, we detail biochemical and signaling studies of IgA1-producing cells derived from peripheral blood and tonsils. - Source: PubMed
Publication date: 2026/01/30
Yamada KoshiOgiwara KeiNovak JanSuzuki Yusuke - Migraine is a complex neurological disorder with substantial heritability, yet genome-wide association studies (GWAS) have explained only a fraction of its genetic component. We developed InsightGWAS, a Transformer-based model, to enhance genetic discovery for migraine by integrating functional annotations and leveraging transfer learning from GWAS datasets of major depressive disorder (MDD). Applying InsightGWAS to migraine GWAS datasets comprising 53,109 cases and 230,876 controls, we identified 293 previously unreported loci, influencing genes such as CACNA1D, HTR3C, and NLGN1, respectively. Furthermore, two loci rs4320030 (SCN11A) and rs5763529 (HORMAD2) were validated in independent sequencing studies, demonstrating the model's precision in uncovering migraine-associated loci. Compared to traditional GWAS results, enrichment analyses of InsightGWAS-predicted loci uncovered new signaling pathways, including nitrogen compound metabolism and cation binding, offering novel insights into the metabolic and ionic mechanisms underlying migraine susceptibility. These findings demonstrate the impact of InsightGWAS in complementing conventional approaches and advancing our understanding of migraine genetics. - Source: PubMed
Publication date: 2025/12/10
Meng ZiangSong YingchaoJiang YueWang XianjinZou YangLi XingyuanHakonarson HakonChang Xiao - There is a potential bidirectional pathogenicity between thyroid and breast cancers. The association between sex hormones and two types of malignant tumors has emerged as a topic of intense academic debate in recent years. However, the role of sex hormone metabolism-related genes in thyroid cancer still needs to be further explored. - Source: PubMed
Publication date: 2025/09/02
Qiao LixueLi HaoYin KeyuMa RunshengZhang YifeiGuo YueYin Detao - Infections of the dental pulp are common sequelae of microbial activity and host susceptibility, affecting >80% of adult population. We performed a genome-wide association study on endodontic infections utilizing Finnish health registry and genotype data from FinnGen. Cases [132,124 (27.2%)] had at least one ICD10-diagnosis code of pulpal or apical diseases, whereas 353,106 individuals without diagnoses served as controls. We investigated two clinical sub-phenotypes, Pulpitis and Necrosis of pulp or apical periodontitis. Our analysis resulted in significant associations in 12 chromosomes and 15 independent loci, such as those near HORMAD2 gene and those in the HLA region. The imputed HLA alleles, especially DRB1 * 04:01 and DQB1 * 03:01, were associated with endodontic infections. Bioinformatic analysis of the top variants indicated several potential regulatory variants which are involved in MHC class II protein complex, humoral immune responses, and antigen processing. Our study widens understanding on how immune dysregulation resulting from immunogenetic variation is involved in the pathogenesis of endodontic infections. - Source: PubMed
Publication date: 2025/07/23
Salminen AinoHyvärinen KatiRitari JarmoLeppilahti Jussi MPalotie UllaVuollo VilleKambur Oleg Reis KadriReigo AnuPalta PriitPerola MarkusSinisalo JuhaHavulinna Aki SMäntylä PäiviGürsoy Ulvi KahramanSuominen A LiisaRice David PAnttonen VuokkoNieminen PekkaPussinen Pirkko J