• Gene id: 51009

Gene Summary

• Gene Symbol: DERL2   Gene   UCSC   Ensembl
• Aliases: CGI-101, DERtrin-2, F-LAN-1, F-LANa, FLANa, derlin-2
• Gene name: derlin 2
• Alternate names: derlin-2, Der1-like domain family, member 2, carcinoma related, degradation in endoplasmic reticulum protein 2,
• Gene location: 17p13.2 (5486224: 5471253)     Exons: 8     NC_000017.11
• Gene summary(Entrez): 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]).[s
• OMIM: 610304

Protein Summary

• Protein general information: Q9GZP9  
  • Name: Derlin 2 (Degradation in endoplasmic reticulum protein 2) (DERtrin 2) (Der1 like protein 2) (F LAN 1) (F LANa)
  • Length: 239  
  • Mass: 27567
  • Tissue specificity: Ubiquitous. Overexpressed in various hepatocarcinomas. {ECO
• Sequence:

  MAYQSLRLEYLQIPPVSRAYTTACVLTTAAVQLELITPFQLYFNPELIFKHFQIWRLITNFLFFGPVGFNFLFNM
  IFLYRYCRMLEEGSFRGRTADFVFMFLFGGFLMTLFGLFVSLVFLGQAFTIMLVYVWSRRNPYVRMNFFGLLNFQ
  APFLPWVLMGFSLLLGNSIIVDLLGIAVGHIYFFLEDVFPNQPGGIRILKTPSILKAIFDTPDEDPNYNPLPEER
  PGGFAWGEGQRLGG

• Structural information:
  • Interpro: IPR007599  
  • STRING: ENSP00000158771
• Other Databases: GeneCards:  DERL2  Malacards:  DERL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904153	negative regulation of retrograde protein transport, ER to cytosol	IMP	biological process
GO:1990381	ubiquitin-specific protease binding	IBA	molecular function
GO:0051787	misfolded protein binding	IBA	molecular function
GO:0030968	endoplasmic reticulum unfolded protein response	IBA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IBA	cellular component
GO:0030433	ubiquitin-dependent ERAD pathway	IBA	biological process
GO:0000839	Hrd1p ubiquitin ligase ERAD-L complex	IBA	cellular component
GO:0005785	signal recognition particle receptor complex	IDA	colocalizes with
GO:0048500	signal recognition particle	IDA	colocalizes with
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006986	response to unfolded protein	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:1904380	endoplasmic reticulum mannose trimming	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0001967	suckling behavior	IEA	biological process
GO:0005769	early endosome	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0030970	retrograde protein transport, ER to cytosol	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	IEA	cellular component
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0030307	positive regulation of cell growth	IDA	biological process
GO:0030968	endoplasmic reticulum unfolded protein response	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0030433	ubiquitin-dependent ERAD pathway	IMP	biological process
GO:0030970	retrograde protein transport, ER to cytosol	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)