Property Summary

NCBI Gene PubMed Count 30
PubMed Score 18.69
PubTator Score 20.49

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
psoriasis -1.200 8.7e-07
osteosarcoma -2.159 1.7e-03
posterior fossa group B ependymoma 1.800 2.1e-09
glioblastoma 1.200 3.3e-05
astrocytoma 1.700 2.1e-02
atypical teratoid / rhabdoid tumor 1.400 1.9e-05
primitive neuroectodermal tumor 1.100 7.4e-03
Breast cancer 2.000 4.7e-02
interstitial cystitis -1.200 3.2e-04
pilocytic astrocytoma 1.600 4.6e-06
ovarian cancer -2.100 1.3e-05
Down syndrome 1.100 5.7e-04

 MGI Phenotype (1)

Gene RIF (14)

PMID Text
24217618 Erlin-2 and the related erlin-1 were found to negatively regulate cholesterol and fatty acid biosynthesis in cultured cell models when the proteins were depleted by RNAi. The proteins also selectively bound cholesterol.
24217618 Here we show that the multimeric ER proteins erlins-1 and -2 are additional sterol regulatory element binding protein regulators.
23109145 ERLIN2 loss on cell growth may advance understanding of the mechanism behind motor neuron degeneration in primary lateral sclerosis
23085305 ERLIN2 was found to be responsible for causing hereditary spastic paraplegia in a Saudi family.
22771797 a novel brain gamma-secretase associated protein , erlin-2, that resides in detergent resistant membranes and affects amyloid beta-peptide production.
22690709 a novel role for ERLIN2 in supporting cancer cell growth by promoting the activation of the key lipogenic regulator SREBP1c and the production of cytosolic lipid droplets.
22681620 ERLIN2 may confer a selective growth advantage for breast cancer cells by facilitating a cytoprotective response to various cellular stresses associated with oncogenesis.
22360420 A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
21796390 study describes an extended consanguineous Saudi family in which hereditary spastic paraplegia is linked to SPG18, an autosomal recessive locus, and show it is associated with a nullimorphic deletion of ERLIN2
21330303 The gene encodes endoplasmic reticulum (ER) lipid raft-associated protein 2 that mediates the ER-associated degradation of activated inositol 1,4,5-trisphosphate receptors and other substrates.
19751772 m3 receptor-expressing HeLa cells are a valuable system for studying IP(3) receptor ERAD, and suggest that the SPFH1/2 complex is a factor that selectively mediates the ERAD of activated IP(3) receptors.
19240031 Results suggest that this novel SPFH1/2 complex is a recognition factor that targets IP(3)Rs and perhaps other substrates for ERAD.
17502376 SPFH2 as a key endoplasmic reticulum associated degradation pathway component and suggest that it may act as a substrate recognition factor.
16835267 Erlin-1 and erlin-2 are novel members of the prohibitin family of proteins that define lipid-raft-like domains of the ER.

AA Sequence

MAQLGAVVAVASSFFCASLFSAVHKIEEGHIGVYYRGGALLTSTSGPGFHLMLPFITSYKSVQTTLQTDE      1 - 70
VKNVPCGTSGGVMIYFDRIEVVNFLVPNAVYDIVKNYTADYDKALIFNKIHHELNQFCSVHTLQEVYIEL     71 - 140
FDQIDENLKLALQQDLTSMAPGLVIQAVRVTKPNIPEAIRRNYELMESEKTKLLIAAQKQKVVEKEAETE    141 - 210
RKKALIEAEKVAQVAEITYGQKVMEKETEKKISEIEDAAFLAREKAKADAECYTAMKIAEANKLKLTPEY    211 - 280
LQLMKYKAIASNSKIYFGKDIPNMFMDSAGSVSKQFEGLADKLSFGLEDEPLETATKEN               281 - 339
//

Text Mined References (34)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25204797 2014 Flotillin-1 facilitates toll-like receptor 3 signaling in human endothelial cells.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24217618 2013 Erlins restrict SREBP activation in the ER and regulate cellular cholesterol homeostasis.
24144296 2013 Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
24019521 2013 RNF185 is a novel E3 ligase of endoplasmic reticulum-associated degradation (ERAD) that targets cystic fibrosis transmembrane conductance regulator (CFTR).
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23109145 2012 Loss of ERLIN2 function leads to juvenile primary lateral sclerosis.
23085305 2013 A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family.
22771797 2012 Erlin-2 is associated with active ?-secretase in brain and affects amyloid ?-peptide production.
22690709 2012 Endoplasmic reticulum factor ERLIN2 regulates cytosolic lipid content in cancer cells.
22681620 2012 ERLIN2 promotes breast cancer cell survival by modulating endoplasmic reticulum stress pathways.
22360420 2012 Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
21796390 2011 A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18).
21610068 2011 RNF170 protein, an endoplasmic reticulum membrane ubiquitin ligase, mediates inositol 1,4,5-trisphosphate receptor ubiquitination and degradation.
21343306 2011 Membrane-associated ubiquitin ligase complex containing gp78 mediates sterol-accelerated degradation of 3-hydroxy-3-methylglutaryl-coenzyme A reductase.
21330303 2011 A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures.
21269460 2011 Initial characterization of the human central proteome.
19751772 2009 SPFH1 and SPFH2 mediate the ubiquitination and degradation of inositol 1,4,5-trisphosphate receptors in muscarinic receptor-expressing HeLa cells.
19240031 2009 An endoplasmic reticulum (ER) membrane complex composed of SPFH1 and SPFH2 mediates the ER-associated degradation of inositol 1,4,5-trisphosphate receptors.
18468998 2008 Blood pressure is regulated by an alpha1D-adrenergic receptor/dystrophin signalosome.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17502376 2007 SPFH2 mediates the endoplasmic reticulum-associated degradation of inositol 1,4,5-trisphosphate receptors and other substrates in mammalian cells.
16835267 2006 Erlin-1 and erlin-2 are novel members of the prohibitin family of proteins that define lipid-raft-like domains of the ER.
15897872 2005 A 1 Mb minimal amplicon at 8p11-12 in breast cancer identifies new candidate oncogenes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
10449903 1999 Cloning and characterization of a novel gene (C8orf2), a human representative of a novel gene family with homology to C. elegans C42.C1.9.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.