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中文人类
ZIC2 - Zic Family Member 2
Alias:
HPE5
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这个基因编码ZIC家族的一员，ZIC家族是C2H2型锌指蛋白。这个蛋白作为转录抑制因子，可能调节多巴胺受体D1的组织特异性表达。编码蛋白C端尾部的丙氨酸重复扩张和该基因中的其他突变导致全前脑发育不全5型。全前脑发育不全是最常见的人类大脑结构异常。该基因的多聚组氨酸区多态性可能与神经管缺陷的风险增加有关。这个基因与一个编码小脑锌指蛋白5的基因紧密连锁，相关家族成员位于染色体13上。[RefSeq，2016年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ZIC2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
