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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
ASIC2 - Acid Sensing Ion Channel Subunit 2
Alias:
ACCN
BNC1
MDEG
ACCN1
BNaC1
ASIC2a
hBNaC1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个属于degenerin/上皮钠通道(DEG/ENaC)超家族的成员。这个家族的成员是含有胞内N和C末端的胺碘酮敏感钠通道,具有2个疏水跨膜区域和一个大型胞外环,该环具有许多具有保守间距的半胱氨酸残基。这个基因编码的成员可能在神经传递中发挥作用。此外,已经观察到这个成员与酸感(质子门控)离子通道3异源二聚体结合,共同组装成对钆敏感的质子门控通道。在这个位置已经观察到了可变剪接,并且已经识别了两个编码不同异构体的变异体。[由RefSeq,2012年2月提供]
Related ID:
NCBI:40
ENSEMBL:ENSG00000108684
HGNC:99
UNIPROT:Q16515
OMIM:601784
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
40
2
10
1143682 bp
57.71
29
--
7
9
ASIC2 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
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Interactions
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Acting
Regulation
Detail
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Residues
Reference
Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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