• Gene id: 11160

Gene Summary

• Gene Symbol: ERLIN2   Gene   UCSC   Ensembl
• Aliases: C8orf2, Erlin-2, NET32, SPFH2, SPG18
• Gene name: ER lipid raft associated 2
• Alternate names: erlin-2, SPFH domain family, member 2, endoplasmic reticulum lipid raft-associated protein 2, epididymis secretory sperm binding protein, spastic paraplegia 18 (autosomal dominant), stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2,
• Gene location: 8p11.23 (37736626: 37758421)     Exons: 14     NC_000008.11
• Gene summary(Entrez): This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical role in inositol 1,4,5-trisphosphate (IP3) signaling by me
• OMIM: 117141

Protein Summary

• Protein general information: O94905  
  • Name: Erlin 2 (Endoplasmic reticulum lipid raft associated protein 2) (Stomatin prohibitin flotillin HflC/K domain containing protein 2) (SPFH domain containing protein 2)
  • Length: 339  
  • Mass: 37840
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MAQLGAVVAVASSFFCASLFSAVHKIEEGHIGVYYRGGALLTSTSGPGFHLMLPFITSYKSVQTTLQTDEVKNVP
  CGTSGGVMIYFDRIEVVNFLVPNAVYDIVKNYTADYDKALIFNKIHHELNQFCSVHTLQEVYIELFDQIDENLKL
  ALQQDLTSMAPGLVIQAVRVTKPNIPEAIRRNYELMESEKTKLLIAAQKQKVVEKEAETERKKALIEAEKVAQVA
  EITYGQKVMEKETEKKISEIEDAAFLAREKAKADAECYTAMKIAEANKLKLTPEYLQLMKYKAIASNSKIYFGKD
  IPNMFMDSAGSVSKQFEGLADKLSFGLEDEPLETATKEN

• Structural information:
  • Interpro: IPR001107  IPR033294  
  • CDD: cd03406
  • STRING: ENSP00000276461
• Other Databases: GeneCards:  ERLIN2  Malacards:  ERLIN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0032933	SREBP signaling pathway	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0015485	cholesterol binding	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0030433	ubiquitin-dependent ERAD pathway	IDA	biological process
GO:0045717	negative regulation of fatty acid biosynthetic process	IMP	biological process
GO:0032933	SREBP signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045541	negative regulation of cholesterol biosynthetic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0031625	ubiquitin protein ligase binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0008202	steroid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0055085	transmembrane transport	TAS	biological process
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:0005783	endoplasmic reticulum	IDA	cellular component
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:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0045121	membrane raft	IDA	cellular component
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0032933	SREBP signaling pathway	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0015485	cholesterol binding	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0030433	ubiquitin-dependent ERAD pathway	IDA	biological process
GO:0045717	negative regulation of fatty acid biosynthetic process	IMP	biological process
GO:0032933	SREBP signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045541	negative regulation of cholesterol biosynthetic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0031625	ubiquitin protein ligase binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0008202	steroid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0055085	transmembrane transport	TAS	biological process
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:0005783	endoplasmic reticulum	IDA	cellular component
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:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0045121	membrane raft	IDA	cellular component

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Hereditary spastic paraplegia	KEGG:H00266
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881