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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
GNA11 - G Protein Subunit Alpha 11
Alias:
FBH
FBH2
FHH2
HG1K
HHC2
GNA-11
HYPOC2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质属于鸟嘌呤核苷酸结合蛋白(G蛋白)家族,在各种跨膜信号系统中作为调节因子或转换器发挥作用。G蛋白由3个单元组成:alpha、beta和gamma。这个基因编码alpha亚基之一(亚基alpha-11)。这个基因的突变与Ⅱ型低钙尿性高钙血症(HHC2)和显性低钙血症2(HYPOC2)有关。患有HHC2和HYPOC2的患者分别表现出对细胞外钙浓度变化的敏感性降低或增加。[RefSeq提供,2013年12月]
Related ID:
NCBI:2767
ENSEMBL:ENSG00000088256
HGNC:4379
UNIPROT:P29992
OMIM:139313
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2767
1
7
29638 bp
42.12
254
10
8
14
GNA11 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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Acting
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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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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Journal
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IF
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