SpliceAtlasDB
← 返回基因注释查询

基因注释:GUCY2C

官方信息

官方名称:guanylate cyclase 2C

功能摘要:This gene encodes a transmembrane protein that functions as a receptor for endogenous peptides guanylin and uroguanylin, and the heat-stable E. coli enterotoxin. The encoded protein activates the cystic fibrosis transmembrane conductance regulator. Mutations in this gene are associated with familial diarrhea (autosomal dominant) and meconium ileus (autosomal recessive). [provided by RefSeq, Nov 2016].

作为靶基因的剪接因子
  • RBFOX2 综合评分: 0.300 · 证据 2 条
  • SRSF3 综合评分: 0.300 · 证据 1 条
  • U2af1 综合评分: 0.150 · 证据 1 条
关联疾病

该基因暂无关联疾病记录

外部数据库链接