2024年12月25日 · TSPAN12 (Tetraspanin 12) is a Protein Coding gene. Diseases associated with TSPAN12 include Exudative Vitreoretinopathy 5 and Vitreoretinopathy. Gene Ontology (GO) annotations related to this gene include Wnt receptor activity. An important paralog of …

Tetraspanin-12 (Tspan-12) also known as tetraspan NET-2 (NET2) or transmembrane 4 superfamily member 12 (TM4SF12) is a tetraspanin protein that in humans is encoded by the TSPAN12 gene. Tetraspanin-12 is found in the membrane of a variety of cells. It has an unusually long C-terminal intracellular tail of approximately 60 amino acids.

Here, we report that TSPAN12 is an essential component of the NDP receptor complex and interacts with FZD4 and NDP via its extracellular loops, consistent with an action as co-receptor that enhances FZD4 ligand selectivity for NDP. FEVR-linked mutations in TSPAN12 prevent the incorporation of TSPAN12 into the NDP receptor complex.

由该基因编码的蛋白质是跨膜 4 超家族的成员，也称为四跨膜蛋白家族。 这些成员中的大多数是细胞表面蛋白，其特征在于存在四个疏水结构域。 这些蛋白质介导在细胞发育、活化、生长和运动的调节中起作用的信号转导事件。 [RefSeq 提供，2008 年 7 月] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family.

2025年1月4日 · Title: TSPAN12 (Tetraspanin 12) Is a Novel Negative Regulator of Aldosterone Production in Adrenal Physiology and Aldosterone-Producing Adenomas. A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR.

2009年10月16日 · Here we show that the tetraspanin Tspan12 is expressed in the retinal vasculature, and loss of Tspan12 phenocopies defects seen in Fzd4, Lrp5, and Norrin mutant mice. In addition, Tspan12 genetically interacts with Norrin or Lrp5.

2025年2月8日 · TSPAN12 (Tetraspanin 12) Is a Novel Negative Regulator of Aldosterone Production in Adrenal Physiology and Aldosterone-Producing Adenomas. A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR. A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.

2009年10月16日 · Here we show that the tetraspanin Tspan12 is expressed in the retinal vasculature, and loss of Tspan12 phenocopies defects seen in Fzd4, Lrp5, and Norrin mutant mice. In addition, Tspan12 genetically interacts with Norrin or Lrp5.

We show that TSPAN12 functions in endothelial cells to promote vascular morphogenesis and BRB formation in developing mice and BRB maintenance in adult mice. Early loss of TSPAN12 in endothelial cells causes lack of intraretinal capillaries and increased VE-cadherin (CDH5 [cadherin5 aka VE-cadherin]) expression, consistent with premature ...

2024年4月22日 · This is a fundamental study that addresses the key question of how the tetraspanin Tspan12 functions biochemically as a co-receptor for Norrin to initiate β-catenin signaling.