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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16449189	GOA
enables protein-containing complex binding	IPI IPI: Inferred from physical interaction	26565908	GOA
enables signal recognition particle binding	IDA IDA: Inferred from direct assay	26565908	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in ERAD pathway	IMP IMP: Inferred from mutant phenotype	16449189	GOA
involved in endoplasmic reticulum unfolded protein response	IDA IDA: Inferred from direct assay	16449189	GOA
involved in negative regulation of retrograde protein transport, ER to cytosol	IMP IMP: Inferred from mutant phenotype	25660456	GOA
involved in positive regulation of cell growth	IDA IDA: Inferred from direct assay	11500051	GOA
involved in positive regulation of cell population proliferation	IDA IDA: Inferred from direct assay	11500051	GOA
involved in retrograde protein transport, ER to cytosol	IMP IMP: Inferred from mutant phenotype	16449189	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	15215855	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	16449189	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DERL2 Protein Structure

DER1

0
100
200
239 a.a.

Protein Preferred Names

Protein Names

derlin-2

Der1-like domain family, member 2

DERL2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03700	DERL2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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