人类

GABRG2 - Gamma-aminobutyric Acid Type A Receptor Subunit Gamma2

Alias:
CAE2
ECA2
FEB8
DEE74
EIEE74
GEFSP3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种γ-氨基丁酸(GABA)受体。GABA是哺乳动物大脑中的主要抑制性神经递质,它在GABA-A受体上发挥作用,这些受体是配体门控的氯通道。GABA-A受体是五聚体,由来自几个亚基类的蛋白质组成:α、β、γ、δ和ρ。这个基因的突变与癫痫和发热性癫痫发作有关。已经在这个基因中识别出多种编码不同异型的转录变异体。[由RefSeq,2008年7月提供]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
15
10
88075 bp
55.19
547
8
19
17

GABRG2 Genetics information (+)

GRCh38

Sequence Homology

Related Diseases and Mutations

#
Disease
Anatomical Category
Score
Mutations
No data available

Transcripts & Proteins

Table View
Tile View
#
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
Alphabetical

Interactions

Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available

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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