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中文人类
APPL2 - Adaptor Protein, Phosphotyrosine Interacting With PH Domain And Leucine Zipper 2
Alias:
DIP13B
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这个基因编码的蛋白质是小型GTP酶RAB5A/Rab5的两个效应子之一，参与信号转导途径。两个效应子都含有N-末端Bin/Amphiphysin/Rvs(BAR)结构域，中央的Pleckstrin同源(PH)结构域和C-末端的磷酸酪氨酸结合(PTB)结构域，它们通过BAR结构域与Rab5结合。它们与内质网膜结合，并可在EGF刺激下转移到核中。它们与NuRD/MeCP1复合体(组蛋白重塑和去乙酰化酶/甲基-CpG结合蛋白1复合体)相互作用，对高效的细胞增殖是必需的。涉及这个基因和PSAP2基因的染色体畸变t(12;22)(q24.1;q13.3)导致22q13.3缺失综合征，也称为Phelan-McDermid综合征。[RefSeq，2011年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
APPL2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
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Tile View
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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
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Residues
Reference
Score
Related Mouse Models
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Name
MGI
Strain of Origin
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References Literature
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