ERLIN2 (ER lipid raft associated 2)
Gene | |
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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11160 |
Gene name
Gene Name - the full gene name approved by the HGNC.
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ER lipid raft associated 2 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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ERLIN2 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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C8orf2, Erlin-2, NET32, SPFH2, SPG18, SPG18A, SPG18B |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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SPG18A, SPG18B |
Chromosome
Chromosome number
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8 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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8p11.23 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein | |||||||||||
UniProt ID | O94905 | ||||||||||
Protein name | Erlin-2 (Endoplasmic reticulum lipid raft-associated protein 2) (Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2) (SPFH domain-containing protein 2) | ||||||||||
Protein function | Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs) such as ITPR1 (PubMed:17502376, PubMed:19240031). Promotes sterol-accelerated ERAD of | ||||||||||
Family and domains |
Pfam
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Tissue specificity | TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10449903}. | ||||||||||
Sequence |
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Sequence length | 339 | ||||||||||
Interactions | View interactions |
Associated diseases
Disease information provided by ClinVar, GenCC, and GWAS databases.
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