Ask about this productRelated genes to: KIRREL2 antibody
- Gene:
- KIRREL2 NIH gene
- Name:
- kirre like nephrin family adhesion molecule 2
- Previous symbol:
- -
- Synonyms:
- NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718
- Chromosome:
- 19q13.12
- Locus Type:
- gene with protein product
- Date approved:
- 2002-07-01
- Date modifiied:
- 2018-04-11
Related products to: KIRREL2 antibody
Related articles to: KIRREL2 antibody
- Heterozygous loss-of-function mutations are one established cause of isolated dystonia and hyposmia. Homozygous mutations have been reported in siblings with generalized dystonia and intellectual disability. encodes major [NM_001369387.1; Gα(olf)] and long [NM_182978.4; XLGα(olf)] isoforms. In striatal medium spiny neurons, dopamine D1 receptors and adenosine A2a receptors are coupled to adenylyl-cyclase through a heterotrimeric G-protein complex composed of Gα(olf), Gβ2, and Gγ7 subunits. In the cerebellum, Gα(olf) colocalizes with cell-surface corticotropin-releasing factor receptors (CRF-RI/II) which take part in climbing fiber signaling. In contrast, XLGα(olf) may take part in cell-cycle control and development. hybridization (ISH) showed that XLGα(olf) mRNA was more broadly distributed in mouse brain than Gα(olf) mRNA. In the cerebellum, XLGα(olf) mRNA was seen in all layers of cerebellar cortex while Gα(olf) mRNA was mainly limited to Purkinje cells. Gα(olf) showed higher expression than XLGα(olf) in the olfactory bulb and striatum, and lower expression than XLGα(olf) in cerebral cortex, cerebellar cortex, and hippocampus. Dysregulated genes identified in mouse brain contribute to signaling (), anatomical structure development including dendritogenesis (), and DNA-templated transcription (). Analyses of ClinVar and gnomAD databases suggest that highly deleterious variants isolated to Exon 1 of the long isoform are less likely to be pathogenic than those isolated to Exon 1 of the major isoform. This work forms a platform for continued study of Gα(olf) and XLGα(olf) in dystonia, hyposmia, and intellectual disability. - Source: PubMed
Publication date: 2025/08/29
Kumar AjeetSaeirad SamiraLeDoux Mark S - Lung cancer pathogenesis involves complex interactions between immune system components and metabolic pathways. However, the causal relationships between these factors remain unclear. This study aimed to employ Mendelian randomization (MR) analysis to establish causal links between immunological markers, metabolic factors, and lung cancer development, while integrating multi-omics data for comprehensive molecular characterization. - Source: PubMed
Publication date: 2025/07/28
Yang DunpengZhang WentianWang Qibin - Polycystic ovary syndrome (PCOS) is defined by oligo/anovulation, hyperandrogenism, and polycystic ovaries with uncertain pathogenesis. The proteome represents a substantial source of therapeutic targets, and their coding genes may elucidate the mechanisms underlying PCOS. However, reports on the profiles of the human plasma protein-coding genes and PCOS are limited. Here, we aimed to investigate novel biomarkers or drug targets for PCOS by integrating genetics and the human plasma proteome. - Source: PubMed
Publication date: 2024/09/09
Zhang JiaqiLi YuqingGong AixiaWang Jingmin - We and others have previously shown that TAZ plays a tumor suppressive role in multiple myeloma. However, recent reports suggest that molecular crosstalk between the myeloma cells and bone marrow stromal components contributes to the myeloma cell survival and drug resistance. These reports further point to reciprocal interaction via adhesion molecules as the most prominent mechanism of intercellular crosstalk between myeloma cells and bone marrow mesenchymal stromal cells (BM-MSCs). YAP/TAZ silencing/expression has been shown to correlate across all cancers with a set of adhesion/extracellular matrix proteins. Therefore, we hypothesized that TAZ may regulate myeloma cell interaction with BM stromal cells by influencing the expression of distinct cell adhesion signatures. We used previously established TAZ myeloma cell line models, including DELTA47-pLENTI or TAZ knockout DELTA47 cells cocultured with or without BM-MSCs, as our study models. Using RNA sequencing analysis, we performed the first comprehensive screen for cell adhesion-related transcriptional targets of TAZ in multiple myeloma (MM). In doing so, we uncovered an enrichment of cell adhesion-related genes in TAZ knockout DELTA47 cells relatively to pLENTI-DELTA47 cells, including 11 genes with log2 fold change > 2 (p < 0.05), namely, ANXA1, ADGRL2, NCAM1, NCAM2, ADGRL3, CXADR, ALCAM, JAM2, KIRREL1, KIRREL2, and ADGRG7, suggesting possible relationship with TAZ. We validated ANXA1 as a bona fide target of TAZ in MM. We show that TAZ represses myeloma cell migration and interaction with BM-MSCs by transcriptionally downregulating ANXA1 expression via TEAD-dependent mechanism. Our data provide new insights into the understanding of the role of TAZ in the intercellular communication signals between myeloma cells and BM-MSCs. Our findings also suggest that ANXA1 represents a putative cell adhesion target to attenuate BM-MSC driven, tumor-promoting interaction with myeloma cells. - Source: PubMed
Publication date: 2024/07/18
Abegunde Samuel OGrieve StacyReiman Tony - Type 1 diabetes (T1Ds) is an autoimmune disease in which the immune system invades and destroys insulin-producing cells. Nevertheless, at the time of diagnosis, about 30-40% of pancreatic beta cells are healthy and capable of producing insulin. Bi-specific antibodies, chimeric antigen receptor regulatory T cells (CAR-Treg cells), and labeled antibodies could be a new emerging option for the treatment or diagnosis of type I diabetic patients. The aim of the study is to choose appropriate cell surface antigens in the pancreas tissue for generating an antibody for type I diabetic patients. - Source: PubMed
Publication date: 2024/01/31
Dabiri HamedHabibi-Anbouhi MahdiZiaei VahabMoghadasi ZahraSadeghizadeh MajidHajizadeh-Saffar Ensiyeh