ERLIN2 (ER lipid raft associated 2)

2012-11-01  

Identity

HGNC
LOCATION
8p11.23
LOCUSID
ALIAS
C8orf2,Erlin-2,NET32,SPFH2,SPG18
FUSION GENES

Other Information

Locus ID:

NCBI: 11160
MIM: 611605
HGNC: 1356
Ensembl: ENSG00000147475

Variants:

dbSNP: 11160
ClinVar: 11160
TCGA: ENSG00000147475
COSMIC: ERLIN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147475ENST00000335171O94905
ENSG00000147475ENST00000518526E5RJ09
ENSG00000147475ENST00000518586O94905
ENSG00000147475ENST00000519638O94905
ENSG00000147475ENST00000519638A0A384ME54
ENSG00000147475ENST00000521644E5RHW4
ENSG00000147475ENST00000523107O94905
ENSG00000147475ENST00000523887O94905
ENSG00000147475ENST00000648919O94905

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Signaling by FGFR in diseaseREACTOMER-HSA-1226099
Signaling by FGFR1 in diseaseREACTOMER-HSA-5655302
FGFR1 mutant receptor activationREACTOMER-HSA-1839124
Disorders of transmembrane transportersREACTOMER-HSA-5619115
ABC transporter disordersREACTOMER-HSA-5619084
Defective CFTR causes cystic fibrosisREACTOMER-HSA-5678895
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556
Signaling by plasma membrane FGFR1 fusionsREACTOMER-HSA-8853336

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
168352672006Erlin-1 and erlin-2 are novel members of the prohibitin family of proteins that define lipid-raft-like domains of the ER.88
192400312009An endoplasmic reticulum (ER) membrane complex composed of SPFH1 and SPFH2 mediates the ER-associated degradation of inositol 1,4,5-trisphosphate receptors.41
175023762007SPFH2 mediates the endoplasmic reticulum-associated degradation of inositol 1,4,5-trisphosphate receptors and other substrates in mammalian cells.40
213303032011A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures.24
217963902011A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18).24
231091452012Loss of ERLIN2 function leads to juvenile primary lateral sclerosis.20
223604202012Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.18
242176182013Erlins restrict SREBP activation in the ER and regulate cellular cholesterol homeostasis.16
242176182013Erlins restrict SREBP activation in the ER and regulate cellular cholesterol homeostasis.16
197517722009SPFH1 and SPFH2 mediate the ubiquitination and degradation of inositol 1,4,5-trisphosphate receptors in muscarinic receptor-expressing HeLa cells.12

Citation

Dessen P

ERLIN2 (ER lipid raft associated 2)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/52961/erlin2