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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
ZNF215 - Zinc Finger Protein 215
Alias:
BAZ2
BAZ-2
ZSCAN43
ZKSCAN11
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因以组织特异性的方式印记,在睾丸中优先表达,并编码属于锌指转录因子家族的锌指蛋白。编码的蛋白质包含N-末端SRE-ZBP、Ctfin51、AW-1和18(扫描)结构域、kruppel相关盒A(KRABA)结构域和四个C-末端锌指结构域。这个基因位于与Beckwith-Wiedemann综合征相关的染色体11p15的三个区域之一,称为Beckwith-Wiedemann综合征染色体区-2(BWSCR2),被认为在疾病的病因中发挥作用。[RefSeq,2017年8月提供]
Related ID:
NCBI:7762
ENSEMBL:ENSG00000149054
HGNC:13007
UNIPROT:Q9UL58
OMIM:605016
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7762
17
7
67998 bp
60.03
25
--
--
3
ZNF215 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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