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中文人类
OTOF - Otoferlin
Alias:
AUNB1
DFNB6
DFNB9
NSRD9
FER1L2
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这个基因的突变是导致非综合征性神经性耳聋DFNB9的原因。编码的蛋白质的短形式具有3个C2结构域，单个羧基端跨膜结构域也在线虫精子发生因子FER-1和人类dysferlin中发现，而长形式具有6个C2结构域。同源性表明，该蛋白质可能参与囊泡膜融合。已经发现这个基因的几个转录变异体，编码多种异构体。[RefSeq,2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
OTOF 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
