ERLIN2


Summary: 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 mediating ER-associated degradation of activated IP3 receptors. Mutations in this gene are a cause of spastic paraplegia-18 (SPG18). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:611605
PHARMGKB IDPA25961
Map Location8p11.23

Gene Categories:

TYROSINE KINASEKINASE

GO terms in ERLIN2


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Term Type
Evidence Type
GO Term ID
GO Des.
CC IDA GO:0005783 endoplasmic reticulum
CC IBA GO:0005789 endoplasmic reticulum membrane
CC IDA GO:0005789 endoplasmic reticulum membrane
CC TAS GO:0005789 endoplasmic reticulum membrane
CC IDA GO:0005829 cytosol
CC IDA GO:0005886 plasma membrane
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Gene expression in normal tissue: ERLIN2

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

undefined23DNA replication1Proteasome1VEGF signaling pathway1Other, kinases1Metabolism1Mitosis1

Pathways in ERLIN2


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Database
Pathway ID
Pathway Des.
reactome R-HSA-1226099 Signaling by FGFR in disease
reactome R-HSA-1643685 Disease
reactome R-HSA-1839124 FGFR1 mutant receptor activation
reactome R-HSA-382551 Transport of small molecules
reactome R-HSA-382556 ABC-family proteins mediated transport
reactome R-HSA-5619084 ABC transporter disorders
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD268 Cerulenin 2
iGMDRD322 FK 866 2
iGMDRD300 Tozasertib 1
iGMDRD60 Quinoclamine 3
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in ERLIN2

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
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