基因注释 - MBNL1

📝 官方信息

官方名称：muscleblind like splicing regulator 1

功能摘要：This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. [provided by RefSeq, Sep 2015].

🎯 作为靶基因的剪接因子

RBFOX2 综合评分: 0.414 · 证据 2 条
HNRNPA2B1 综合评分: 0.412 · 证据 2 条
HNRNPK 综合评分: 0.362 · 证据 2 条
PTBP1 综合评分: 0.362 · 证据 2 条
SRSF2 综合评分: 0.362 · 证据 1 条
HNRNPA1 综合评分: 0.350 · 证据 2 条
HNRNPC 综合评分: 0.350 · 证据 2 条
HNRNPM 综合评分: 0.350 · 证据 2 条
MBNL1 综合评分: 0.350 · 证据 2 条
QKI 综合评分: 0.350 · 证据 1 条
CELF2 综合评分: 0.346 · 证据 2 条
MBNL2 综合评分: 0.344 · 证据 1 条
PRPF8 综合评分: 0.324 · 证据 1 条
TIA1 综合评分: 0.312 · 证据 1 条
ELAVL3 综合评分: 0.306 · 证据 1 条
FUS 综合评分: 0.300 · 证据 1 条
HNRNPD 综合评分: 0.300 · 证据 2 条
HNRNPL 综合评分: 0.300 · 证据 2 条
HNRNPU 综合评分: 0.300 · 证据 2 条
KHSRP 综合评分: 0.300 · 证据 2 条

🏥 关联疾病

type 2 diabetes mellitus

中关联 (0.494)

diabetes mellitus

中关联 (0.478)

prostate carcinoma

中关联 (0.448)

corneal dystrophy, Fuchs endothelial, 3

低关联 (0.370)

androgenetic alopecia

低关联 (0.318)

breast disease

低关联 (0.311)

myotonic dystrophy type 1

低关联 (0.290)

infantile hypertrophic pyloric stenosis

低关联 (0.284)

Steinert myotonic dystrophy

低关联 (0.277)

neurodegenerative disease

低关联 (0.244)

🔍 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：MBNL1