DSG2 Q14126

桥粒芯糖蛋白-2 (钙粘蛋白家族成员5) (HDGC)

功能描述

桥粒细胞间连接的组分，这是细胞黏附正调控所必需的 (PubMed:17559062, PubMed:38395410)。参与介导细胞间黏附的斑蛋白和中间丝的相互作用。囊胚中胚胎干细胞的增殖和存活所必需的，因此对于植入后胚胎发育的进程至关重要 (By similarity)。通过与CTNNB1相互作用并将其隔离在细胞间接触位点，从而减少CTNNB1向细胞核的易位以及随后的CTNNB1/TCF靶基因转录，以此通过调节上皮-间质转化/间质-上皮转化 (EMT/MET) 来维持多能性 (PubMed:29910125)。促进造血干细胞的多能性和多系分化潜能 (PubMed:27338829)。通过介导皮层肌动蛋白纤维和CDH5的连接结合，在内皮细胞萌发和延伸中发挥作用 (PubMed:27338829)。促进心肌细胞稳态和闰盘处桥粒连接的形成，结果在维持心脏传导和心腔完整性方面发挥作用 (By similarity)。正调控胰岛发育和胰腺内皮细胞屏障完整性的维持，因此参与响应葡萄糖将胰岛素从胰岛细胞受控释放到循环中 (By similarity)。在限制肾小管上皮细胞的炎症浸润和对损伤的凋亡反应中发挥作用，可能是通过其在维持细胞间黏附和上皮屏障中的作用 (PubMed:38395410)。通过将CSK和EGFR隔离在脂筏之外，作为其激活的正调节因子，这与其在桥粒细胞连接中的作用无关 (PubMed:26918609)。还破坏CAV1在脂筏中的定位，导致其分布在整个细胞质中 (PubMed:26918609)。 {ECO:0000250|UniProtKB:O55111, ECO:0000269|PubMed:17559062, ECO:0000269|PubMed:26918609, ECO:0000269|PubMed:27338829, ECO:0000269|PubMed:29910125, ECO:0000269|PubMed:38395410}.

组织特异性

Expressed in undifferentiated pluripotent stem cells, expression decreases during differentiation (at protein level) (PubMed:29910125). Expressed in hematopoietic stem cells and circulating endothelial progenitor cells, expression decreases upon increasing cell lineage commitment (at protein level) (PubMed:27338829). Expressed on common myeloid progenitors, pro-myelocytes, pro-erythrocytes and B-cell linage progenitors (at protein level). Expression in mature cell types in the bone marrow and mature leukocyte populations is absent (PubMed:27338829). Expressed by foreskin fibroblasts, expression peaks during the early stage of differentiation reprogramming (at protein level) (PubMed:29910125). Expressed by endothelial cells in both arterioles and venules in the cervix (at protein level) (PubMed:27338829). Expressed in pancreatic alpha-cells, beta-cells and exocrine tissue (at protein level) (PubMed:36309486). Expressed in cardiomyocytes (at protein level) (PubMed:31845994, PubMed:38375917). Expressed in kidney tubular epithelial cells (PubMed:38395410).

亚细胞定位

Cell membrane