1. Gene
  2. DERL2 - derlin 2 Gene

DERL2 - derlin 2 Gene

中文名称:德林 2

种属: Homo sapiens

同用名: FLANa; F-LANa; CGI-101; F-LAN-1; derlin-2; DERtrin-2

基因 ID: 51009 | 基因类型: protein coding

关于 DERL2

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:5,471,254-5,486,817 (from NCBI)

This gene has 13 transcripts (splice variants), 134 orthologues and 2 paralogues. Ubiquitous expression in thyroid (RPKM 9.0), testis (RPKM 7.8) and 25 other tissues.

功能概要

在内质网 (ER) 中展开或错误折叠的蛋白质必须重新折叠或降解以维持 ER 的稳态。 DERL2 参与 ER 中错误折叠糖蛋白的降解 (Oda 等人,2006 [PubMed 16449189]) 。[OMIM 提供,2008 年 3 月]

Proteins that are unfolded or misfolded in the endoplasmic reticulum (ER) must be refolded or degraded to maintain the homeostasis of the ER. DERL2 is involved in the degradation of misfolded glycoproteins in the ER (Oda et al., 2006 [PubMed 16449189]).[supplied by OMIM, Mar 2008]

DERL2 基因产物(3)

mRNA Protein Name
NM_001304777.2 NP_001291706.1 derlin-2 isoform b
NM_001304779.2 NP_001291708.1 derlin-2 isoform c
NM_016041.5 NP_057125.2 derlin-2 isoform a
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 protein binding IPI
IPI: 通过物理相互作用推断
16449189 GOA
enables protein-containing complex binding IPI
IPI: 通过物理相互作用推断
26565908 GOA
enables signal recognition particle binding IDA
IDA: 通过直接分析推断
26565908 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ERAD pathway IMP
IMP: 通过突变表型推断
16449189 GOA
involved in endoplasmic reticulum unfolded protein response IDA
IDA: 通过直接分析推断
16449189 GOA
involved in negative regulation of retrograde protein transport, ER to cytosol IMP
IMP: 通过突变表型推断
25660456 GOA
involved in positive regulation of cell growth IDA
IDA: 通过直接分析推断
11500051 GOA
involved in positive regulation of cell population proliferation IDA
IDA: 通过直接分析推断
11500051 GOA
involved in retrograde protein transport, ER to cytosol IMP
IMP: 通过突变表型推断
16449189 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
15215855 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
16449189 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

DERL2 蛋白结构

DER1

DER1: Der1-like family (13 - 202)

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

derlin-2

Der1-like domain family, member 2

DERL2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra DERL2 Q9GZP9 KRTAP10-7 Homo sapiens P60409
Y2H Prey Pooling
25416956
Intra DERL2 Q9GZP9 KRTAP10-7 Homo sapiens P60409
Validated Y2H
25416956
Intra DERL2 Q9GZP9 DIABLO Homo sapiens Q9NR28
Validated Y2H
32296183
Intra DERL2 Q9GZP9 FXYD6 Homo sapiens Q9H0Q3
Y2H Array
32296183
Intra DERL2 Q9GZP9 FXYD6 Homo sapiens Q9H0Q3
Validated Y2H
32296183
Intra DERL2 Q9GZP9 RTN4 Homo sapiens Q9NQC3
Pull Down
22119785
Intra DERL2 Q9GZP9 RTN4 Homo sapiens Q9NQC3
Anti Tag CoIP
33961781
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Hepatosplenic T-Cell Lymphoma

Doid:0081049

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
Canis familiaris DERL2 VGNC VGNC:39903
Macaca mulatta DERL2 VGNC VGNC:71654
Mus musculus DERL2 MGD MGI:2151483
Bos taurus DERL2 VGNC VGNC:28011
Felis catus DERL2 VGNC VGNC:61449
Rattus norvegicus DERL2 RGD RGD:6496100