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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
SPAG11B - Sperm Associated Antigen 11B
Alias:
EP2
HE2
EP2C
EP2D
HE2C
EDDM2B
SPAG11
SPAG11A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码几种雄激素依赖的、特定于附睾的分泌蛋白质。这些蛋白质的具体功能尚未确定,但它们被认为与精子成熟有关。一些异构体含有与β防御素家族相似的相似区域,这是一个抗菌肽家族。该基因位于染色体8p23上的防御素基因簇附近。该基因的可变剪接产生七种转录变异体,编码不同的异构体。剪接变异体编码两种不同的N端和五种不同的C端蛋白质序列。已经描述了另外两种变异体,但它们的完整长度序列尚未确定。[由RefSeq,2008年7月提供]
Related ID:
NCBI:10407
ENSEMBL:ENSG00000164871
HGNC:14534
UNIPROT:Q08648
OMIM:606560
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10407
7
3
15789 bp
13.84
4
--
1
5
SPAG11B 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
Organ
Abundance
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Interactions
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Regulation
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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