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中文人类
ERLIN2 - ER Lipid Raft Associated 2
Alias:
NET32
SPFH2
SPG18
C8orf2
Erlin-2
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这个基因编码一个SPFH结构域富含家族成员，该家族成员位于内质网的脂质筏上。所编码的蛋白质在内质网相关降解激活的IP3受体的ER中起到关键作用。这个基因的突变是导致痉挛性截瘫18（SPG18）的原因。已经观察到这个基因的替代剪接转录变异体编码多种异构体。[RefSeq,2012年2月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ERLIN2 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
