🧬 基因注释：HECW2
官方名称：HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
功能摘要：This gene encodes a member of a family of E3 ubiquitin ligases which plays an important role in the proliferation, migration and differentiation of neural crest cells as a regulator of glial cell line-derived neurotrophic factor (GDNF)/Ret signaling. This gene also plays an important role in angiogenesis through stabilization of endothelial cell-to-cell junctions as a regulator of angiomotin-like 1 stability. The encoded protein contains an N-terminal calcium/lipid-binding (C2) domain involved in membrane targeting, two-four WW domains responsible for cellular localization and substrate recognition, and a C-terminal homologous with E6-associated protein C-terminus (HECT) catalytic domain. Naturally occurring mutations in this gene are associated with neurodevelopmental delay, hypotonia, and epilepsy. The decreased expression of this gene in the aganglionic colon is associated with Hirschsprung's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017].
- HNRNPC 综合评分: 0.494 · 证据 2 条
- RBFOX2 综合评分: 0.424 · 证据 2 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- RBM10 综合评分: 0.312 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- fus 综合评分: 0.300 · 证据 1 条
- ELAVL3 综合评分: 0.260 · 证据 1 条
- Rbmx 综合评分: 0.260 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- CPSF6 综合评分: 0.212 · 证据 2 条
- CSTF2 综合评分: 0.212 · 证据 2 条
- U2af1 综合评分: 0.212 · 证据 1 条
- MBNL2 综合评分: 0.200 · 证据 1 条
- Nova2 综合评分: 0.200 · 证据 1 条
- PCBP2 综合评分: 0.200 · 证据 1 条
- Ptbp2 综合评分: 0.200 · 证据 1 条
该基因暂无关联疾病记录