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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
DMBT1 - Deleted In Malignant Brain Tumors 1
Alias:
SAG
GP340
SALSA
muclin
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
人类染色体10q的部分序列丢失与人类癌症的发展有关。这个基因最初是在髓母细胞瘤细胞系中基于其缺失而被分离出来的。这个基因在胎儿肺中表达6.0、7.5和8.0kb的转录本,而在成人肺中表达一个8.0kb的转录本,尽管7.5kb的转录本尚未表征。编码的蛋白质前体是一个含有多个清道夫受体半胱氨酸丰富(SRCR)结构域的糖蛋白,这些结构域被SRCR间隔结构域(SID)分隔。已经表明,转录变异体2(8.0kb)可以独立于糖识别来结合表面活性蛋白D。这表明DMBT1可能不是经典的肿瘤抑制基因,而是在与肿瘤细胞和免疫系统相互作用的中发挥作用。[由RefSeq,2016年3月提供]
Related ID:
NCBI:1755
ENSEMBL:ENSG00000187908
HGNC:2926
UNIPROT:Q9UGM3
OMIM:601969
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
1755
5
56
82983 bp
260.74
167
--
6
28
DMBT1 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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