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  2. KDELR2 - KDEL endoplasmic reticulum protein retention receptor 2 Gene

KDELR2 - KDEL endoplasmic reticulum protein retention receptor 2 Gene

中文名称:KDEL 内质网蛋白保留受体 2

种属: Homo sapiens

同用名: ELP1; OI21; ELP-1; ERD2.2

基因 ID: 11014 | 基因类型: protein coding

关于 KDELR2

Cytogenetic location: 7p22.1 Genomic coordinates (GRCh38): 7:6,461,089-6,484,152 (from NCBI)

This gene has 6 transcripts (splice variants), 276 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in placenta (RPKM 79.8), stomach (RPKM 78.5) and 25 other tissues.

功能概要

通过从顺式高尔基体或前高尔基体隔室中不断回收,在内质网 (ER) 腔内保留常驻可溶性蛋白质是在酵母和动物细胞中实现的。这些蛋白质的分类取决于 C 端四肽信号,通常是动物细胞中的 lys-asp-glu-leu (KDEL) 和酿酒酵母中的 his-asp-glu-leu (HDEL) 。该过程由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。在酵母中,由单个基因 ERD2 编码的分选受体是一种七跨膜蛋白。与酵母不同,已经描述了构成 KDEL 受体基因家族的 ERD2 基因的几种人类同系物。 KDELR2 是该家族中第二个被鉴定的成员,它编码的蛋白质与 KDELR1 基因产物有 83% 的同一性。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 7 月]

Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR2 was the second member of the family to be identified, and it encodes a protein which is 83% identical to the KDELR1 gene product. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

KDELR2 基因产物(2)

mRNA Protein Name
NM_001100603.2 NP_001094073.1 ER lumen protein-retaining receptor 2 isoform 2
NM_006854.4 NP_006845.1 ER lumen protein-retaining receptor 2 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables KDEL sequence binding IDA
IDA: 通过直接分析推断
1325562 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with COPI-coated vesicle membrane IDA
IDA: 通过直接分析推断
18086916 GOA
located in Golgi membrane IDA
IDA: 通过直接分析推断
1325562 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
1325562 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

KDELR2 蛋白结构

ER_lumen_recept

ER_lumen_recept: ER lumen protein retaining receptor (28 - 169)

  • 0
  • 100
  • 200
  • 212 a.a.
蛋白主名 其他名称

ER lumen protein-retaining receptor 2

(Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2

关联疾病

疾病名称 别名
Osteogenesis Imperfecta, Type Xxi

OI21

Osteogenesis Imperfecta Type 21

Osteogenesis Imperfecta, Type 21

Osteogenesis Imperfecta Type Xxi

Osteogenesis Imperfecta 21

Dentinogenesis Imperfecta

Hereditary Opalescent Dentin

Dentinogenesis Imperfecta Without Osteogenesis Imperfecta

Dgi

Capdepont Teeth

Dgi Without Oi

Di

Non-Syndromic Dgi

Non-Syndromic Dentinogenesis Imperfecta

Opalescent Teeth Without Oi

Opalescent Teeth Without Osteogenesis Imperfecta

Opalescent Dentin

Calvarial Doughnut Lesions With Bone Fragility

Calvarial Doughnut Lesions With Bone Fragility With Or Without Spondylometaphyseal Dysplasia

Calvarial Doughnut Lesions-Bone Fragility Syndrome

CDL

Doughnut Lesions Of Skull, Familial

Calvarial Doughnut Lesions With Bone Fragility And Spondylometaphyseal Dysplasia

Familial Doughnut Lesions Of Skull

CDLSMD

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus KDELR2 RGD RGD:1304618
Mus musculus KDELR2 MGD MGI:1914163
Bos taurus KDELR2 VGNC VGNC:30519
Canis familiaris KDELR2 VGNC VGNC:42315
Felis catus KDELR2 VGNC VGNC:67934
Macaca mulatta KDELR2 VGNC VGNC:74011
Others KDELR2 NCBI