Property Summary

NCBI Gene PubMed Count 30
Grant Count 9
R01 Count 6
Funding $588,277.6
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 0.000
osteosarcoma -2.159 0.002
posterior fossa group B ependymoma 1.800 0.000
glioblastoma 1.200 0.000
astrocytoma 1.700 0.021
atypical teratoid / rhabdoid tumor 1.400 0.000
primitive neuroectodermal tumor 1.100 0.007
Breast cancer 2.000 0.047
interstitial cystitis -1.200 0.000
pilocytic astrocytoma 1.600 0.000
ovarian cancer -2.100 0.000
Down syndrome 1.100 0.001

 MGI Term (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.
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AA Sequence

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