Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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11160 |
Gene nameGene Name - the full gene name approved by the HGNC.
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ER lipid raft associated 2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
ERLIN2 |
SynonymsGene synonyms aliases
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C8orf2, C8orf2 SPFH2, Erlin-2, NET32, SPFH2, SPG18, SPG18A, SPG18B |
ChromosomeChromosome number
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8 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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8p11.23 |
SummarySummary 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 |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs587776893 |
->AC |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
rs763958615 |
A>G,T |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs1057519172 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
rs1585907153 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1585919102 |
->GGCCATTGCTTCCA |
Likely-pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
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miRNAmiRNA 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 IDsOther 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
Accession |
ID |
Position in sequence |
Description |
Type |
PF01145 |
Band_7 |
24 → 216 |
SPFH domain / Band 7 family |
Family |
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Sequence |
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Sequence length |
339 |
Interactions |
View interactions |