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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
RNF43 - Ring Finger Protein 43
Alias:
URCC
SSPCS
RNF124
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种RING型的E3泛素连接酶,预测含有跨膜结构域、蛋白酶相关结构域、外域和胞质RING结构域。这个蛋白质被认为负调控Wnt信号通路,这个基因的表达导致frizzled受体的泛素化增加,其亚细胞分布改变,导致这些受体的表面水平降低。这个基因的突变已在多种肿瘤细胞中报道,包括结肠直肠癌和子宫内膜癌。可变剪接导致多个转录变异体,编码不同的异构体。[RefSeq,2015年3月提供]
Related ID:
NCBI:54894
ENSEMBL:ENSG00000108375
HGNC:18505
UNIPROT:Q68DV7
OMIM:612482
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
54894
8
10
65035 bp
85.72
528
1
7
14
RNF43 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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