基因注释 - RNF213

📝 官方信息

官方名称：ring finger protein 213

功能摘要：This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011].

🎯 作为靶基因的剪接因子

HNRNPA2B1 综合评分: 0.448 · 证据 2 条
HNRNPM 综合评分: 0.412 · 证据 2 条
QKI 综合评分: 0.412 · 证据 1 条
HNRNPL 综合评分: 0.398 · 证据 2 条
Tardbp 综合评分: 0.364 · 证据 1 条
RBFOX2 综合评分: 0.362 · 证据 2 条
HNRNPA1 综合评分: 0.350 · 证据 2 条
HNRNPC 综合评分: 0.350 · 证据 2 条
HNRNPH1 综合评分: 0.350 · 证据 2 条
MBNL1 综合评分: 0.350 · 证据 2 条
RBM22 综合评分: 0.312 · 证据 2 条
RBM39 综合评分: 0.312 · 证据 2 条
FUS 综合评分: 0.300 · 证据 1 条
HNRNPK 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
SRSF3 综合评分: 0.300 · 证据 1 条
SRSF9 综合评分: 0.300 · 证据 1 条
fus 综合评分: 0.300 · 证据 1 条
PRPF8 综合评分: 0.298 · 证据 1 条

🏥 关联疾病

Moyamoya disease

高关联 (0.743)

migraine disorder

中关联 (0.462)

angina pectoris

中关联 (0.459)

genetic disorder

中关联 (0.437)

cancer

低关联 (0.390)

tuberculosis

低关联 (0.372)

Abnormality of the skeletal system

低关联 (0.361)

coronary artery disease

低关联 (0.341)

Headache

低关联 (0.320)

stroke

低关联 (0.317)

🔍 查看该基因的所有关联疾病

🔗 外部数据库链接

NCBI Gene GenBank Ensembl GeneCards UniProt

🧬 基因注释：RNF213