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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
TNFRSF17 - TNF Receptor Superfamily Member 17
Alias:
BCM
BCMA
CD269
TNFRSF13A
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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TNF受体超家族的一员。这个受体在成熟的B淋巴细胞中优先表达,可能对B细胞发育和自身免疫反应很重要。这个受体已被证明能特异性地结合肿瘤坏死因子(配体)超家族成员13b(TNFSF13B/TALL-1/BAFF),并导致NF-kappaB和MAPK8/JNK的激活。这个受体还能与各种TRAF家族成员结合,从而可能传导细胞生存和增殖的信号。[RefSeq,2008年7月提供]
Related ID:
NCBI:608
ENSEMBL:ENSG00000048462
HGNC:11913
UNIPROT:Q02223
OMIM:109545
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
608
1
3
2859 bp
20.16
9
--
7
12
TNFRSF17 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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