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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
GJD2 - Gap Junction Protein Delta 2
Alias:
CX36
GJA9
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个连接蛋白家族的成员。连接蛋白是间隙连接蛋白,以6个一组围绕中央孔排列,形成连接子,间隙连接细胞间通道的一个组成部分。这个蛋白质形成的通道允许人类β细胞之间的阳离子分子交换,并可能参与胰岛素分泌的调节。[RefSeq,2012年10月提供]
Related ID:
NCBI:57369
ENSEMBL:ENSG00000159248
HGNC:19154
UNIPROT:Q9UKL4
OMIM:607058
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
57369
2
2
3967 bp
36.09
10
--
9
3
GJD2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Alphabetical
Cell-specific RNA expression
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
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Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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