Log In|Sign Up
中文人类
EYA4 - EYA Transcriptional Coactivator And Phosphatase 4
Alias:
CMD1J
DFNA10
Favorite
这个基因编码眼睛缺失（EYA）家族蛋白质的一员。编码的蛋白质可能作为转录激活子通过其蛋白质磷酸酶活性发挥作用，并且可能对眼睛发育和成熟耳蜗器官的持续功能很重要。这个基因的突变与后天性、进行性、常染色体显性听力损失相关，位于失聪，常染色体显性非综合征性感觉神经性10位点。编码的蛋白质还是一种潜在的致癌基因，在DNA损伤、细胞损伤和病毒感染后调节DNA修复、凋亡和先天免疫。这个基因的缺陷还与扩张型心肌病1J有关。可变剪接导致多个转录变异体，编码不同的异构体。[由RefSeq，2014年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
EYA4 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
