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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
KDELR2 - KDEL Endoplasmic Reticulum Protein Retention Receptor 2
Alias:
ELP1
OI21
ELP-1
ERD2.2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
内质网(ER)腔内常驻可溶性蛋白在酵母和动物细胞中的保留是通过从高尔基体或预高尔基体中持续回收实现的。这些蛋白质的分类取决于C端四肽信号,动物细胞中通常是lys-asp-glu-leu(KDEL),而酿酒酵母中是his-asp-glu-leu(HDEL)。这个过程是由一个识别并结合含有四肽的蛋白质并将其返回到ER的受体介导的。在酵母中,由单个基因ERD2编码的分类受体是一个具有七个跨膜区的蛋白质。与酵母不同,已经描述了ERD2基因的几个人类同源物,构成了KDEL受体基因家族。KDELR2是家族中识别的第二成员,它编码一个与KDELR1基因产物有83%相同性的蛋白质。选择性剪接产生了多种转录变异体,编码不同的异构体。[RefSeq,2008年7月提供]
Related ID:
NCBI:11014
ENSEMBL:ENSG00000136240
HGNC:6305
UNIPROT:P33947
OMIM:609024
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
11014
2
5
23064 bp
24.42
20
1
3
10
KDELR2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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