1. Gene
  2. DERL2 - derlin 2 Gene

DERL2 - derlin 2 Gene

Homo sapiens

Also known as FLANa; F-LANa; CGI-101; F-LAN-1; derlin-2; DERtrin-2

Gene ID: 51009 | Gene type: protein coding

About 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.

Summary

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 Products(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

DERL2 Protein Structure

DER1

DER1: Der1-like family (13 - 202)

  • 0
  • 100
  • 200
  • 239 a.a.
Protein Preferred Names Protein Names

derlin-2

Der1-like domain family, member 2

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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