人类

CACNB4 - Calcium Voltage-gated Channel Auxiliary Subunit Beta 4

Alias:
EA5
EJM
CAB4
EIG9
EJM4
EJM6
CACNLB4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码电压依赖性钙通道复合蛋白的β亚基家族成员。钙通道在膜极化后调节钙离子流入细胞,并由1:1:1:1比例的α-1、α-2/δ、β和γ亚基组成。每个亚基都有各种版本,由相似的基因表达或通过可选的剪接产生。这个基因编码的蛋白质通过调节G蛋白抑制、增加钙离子峰值电流、控制α-1亚基的膜定位以及调整激活和失活的电压依赖性,在钙通道功能中扮演重要角色。这个基因中的一些突变与特发性全面性癫痫(IGE)、青少年肌阵挛性癫痫(JME)和5型发作性共济失调有关。[RefSeq,2016年8月提供]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23
14
266397 bp
58.17
300
3
7
10

CACNB4 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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Comparison
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