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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
STXBP2 - Syntaxin Binding Protein 2
Alias:
FHL5
UNC18B
Hunc18b
UNC18-2
pp10122
unc-18B
MUNC18-2
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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STXBP/unc-18/SEC1家族的一员。编码的蛋白质涉及细胞内运行、SNARE(可溶性NSF附着蛋白受体)复合体的控制,以及自然杀伤细胞释放细胞毒性颗粒。这个基因的突变与家族性噬血细胞淋巴组织细胞增生症有关。这个基因的不同剪接转录变异体已经注意到,这些变异体编码不同的异构体。[由RefSeq提供,2013年1月]
Related ID:
NCBI:6813
ENSEMBL:ENSG00000076944
HGNC:11445
UNIPROT:Q15833
OMIM:601717
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6813
4
19
18081 bp
66.45
854
7
5
12
STXBP2 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
Abundance
Alphabetical
Cell-specific RNA expression
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Abundance
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Interactions
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
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CAS Number
Status
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Link
No data available
References Literature
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IF
No Data Found!
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