Fgfr2 - fibroblast growth factor receptor 2 Gene

中文名称：成纤维细胞生长因子受体 2

种属: Mus musculus

同用名: Bek; svs; KGFR; Fgfr7; Fgfr-2; Fgfr-7; Fgfr2b; KGFRTr

关于 Fgfr2

功能概要

该基因编码的蛋白可启动成纤维细胞生长因子结合活性。参与成纤维细胞生长因子受体信号通路；神经元的前脑生成；和细胞周期的正向调节。作用于多个过程的上游或内部，包括动物器官发育；细胞群增殖的正向调节；和信号转导的调节。位于兴奋性突触和细胞核。以多种结构表达，包括消化系统；脑;泌尿生殖系统；肢;和感觉器官。用于研究Beare-Stevenson cutis gyrata综合征；克鲁宗综合症；菲佛综合症；尖头并指畸形；和肠闭锁。该基因的人类直系同源基因与多种疾病有关，包括 Beare-Stevenson 皮肤回旋综合症； Jackson-Weiss 综合症； LADD 综合症；生殖器官癌（多发性）；和缝合早闭（多个）。与人 FGFR2（成纤维细胞生长因子受体 2）同源。 [由基因组资源联盟提供，2022 年 4 月]

Enables Fibroblast Growth Factor binding activity. Involved in Fibroblast Growth Factor receptor signaling pathway; forebrain generation of neurons; and positive regulation of cell cycle. Acts upstream of or within several processes, including animal organ development; positive regulation of cell population proliferation; and regulation of signal transduction. Located in excitatory synapse and nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; limb; and sensory organ. Used to study Beare-Stevenson cutis gyrata syndrome; Crouzon syndrome; Pfeiffer syndrome; acrocephalosyndactylia; and intestinal atresia. Human ortholog(s) of this gene implicated in several diseases, including Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; LADD syndrome; reproductive organ Cancer (multiple); and synostosis (multiple). Orthologous to human FGFR2 (Fibroblast Growth Factor receptor 2). [provided by Alliance of Genome Resources, Apr 2022]