基因注释 - RBFOX3

📝 官方信息

官方名称：RNA binding fox-1 homolog 3

功能摘要：This gene encodes a member of the RNA-binding FOX protein family which is involved in the regulation of alternative splicing of pre-mRNA. The protein has an N-terminal proline-rich region, an RNA recognition motif (RRM) domain, and a C-terminal alanine-rich region. This gene produces the neuronal nuclei (NeuN) antigen that has been widely used as a marker for post-mitotic neurons. This gene has its highest expression in the central nervous system and plays a prominent role in neural tissue development and regulation of adult brain function. Mutations in this gene have been associated with numerous neurological disorders. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017].

🎯 作为靶基因的剪接因子

HNRNPC 综合评分: 0.510 · 证据 2 条
NOVA1 综合评分: 0.324 · 证据 2 条
FUS 综合评分: 0.300 · 证据 1 条
PTBP1 综合评分: 0.300 · 证据 2 条
RBFOX2 综合评分: 0.300 · 证据 2 条
fus 综合评分: 0.300 · 证据 1 条
Tardbp 综合评分: 0.274 · 证据 1 条
EWSR1 综合评分: 0.250 · 证据 2 条
RBM10 综合评分: 0.250 · 证据 2 条
MBNL2 综合评分: 0.200 · 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
Ptbp2 综合评分: 0.200 · 证据 1 条
NXF1 综合评分: 0.162 · 证据 1 条
Srsf3 综合评分: 0.150 · 证据 1 条
U2af1 综合评分: 0.150 · 证据 1 条
CPSF1 综合评分: 0.100 · 证据 1 条
CSTF2T 综合评分: 0.100 · 证据 2 条
ELAVL3 综合评分: 0.100 · 证据 1 条
Rbmx 综合评分: 0.100 · 证据 1 条

🏥 关联疾病

neurodegenerative disease

低关联 (0.371)

Rolandic epilepsy

低关联 (0.336)

self-limited epilepsy with centrotemporal spikes

低关联 (0.333)

Abnormality of the skeletal system

低关联 (0.311)

autosomal dominant compelling helio-ophthalmic outburst syndrome

低关联 (0.307)

response to paracetamol

低关联 (0.305)

Dupuytren Contracture

低关联 (0.275)

liver disease

低关联 (0.259)

thrombophilia

低关联 (0.255)

chronic laryngitis

低关联 (0.247)

🔍 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：RBFOX3