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中文人类
MAP2K2 - Mitogen-activated Protein Kinase Kinase 2
Alias:
CFC4
MEK2
MKK2
MAPKK2
PRKMK2
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这个基因编码的蛋白质是一种属于MAP激酶激酶家族的双向特异性蛋白激酶。这种激酶在细胞生长因子信号传导中起着关键作用。它可以磷酸化并激活MAPK1/ERK2和MAPK2/ERK3。该激酶的激活本身依赖于MAP激酶激酶激酶对其Ser/Thr的磷酸化。这个基因的突变导致心脏面部皮肤综合征（CFC综合征），一种以心脏缺陷、认知障碍和类似于Noonan综合征的特征性面部特征为特征的疾病。这个激酶的抑制或降解也涉及耶尔森菌和炭疽病的病理发生。已经在这个基因中发现了一个位于染色体7上的假基因。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
MAP2K2 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
