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中文人类
EFHC2 - EF-hand Domain Containing 2
Alias:
MRX74
dJ1158H2.1
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这个基因编码一个含有三个DM10结构域和三个钙结合EF手结构的蛋白质。一个相关的蛋白质是由染色体6上的一个基因编码的。已有研究表明这两种蛋白质都与癫痫的发展有关(PMID: 15258581, 16112844)，并且这个基因可能与特纳氏综合症患者的恐惧识别有关。[RefSeq，2011年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
EFHC2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* 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
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
