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中文人类
TJP2 - Tight Junction Protein 2
Alias:
ZO2
X104
FHCA1
PFIC4
DFNA51
DUP9q21.11
C9DUPq21.11
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这个基因编码一个occluden蛋白，属于膜关联鸟苷酸激酶同源家族成员。编码的蛋白质作为紧密连接屏障的成分，在上皮和内皮细胞中发挥作用，对紧密连接的正常组装是必要的。这个基因的突变已经在患有高胆烷血症的患者中鉴定出来，包括这个基因在内的270kb区域的基因组复制导致常染色体显性耳聋-51。已经观察到了这个基因的替代剪接转录本，编码多种异构体。[RefSeq提供，2011年11月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
TJP2 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
