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ERLIN2 (ER lipid raft associated 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11160
Gene nameGene Name - the full gene name approved by the HGNC.
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
C8orf2, C8orf2 SPFH2, Erlin-2, NET32, SPFH2, SPG18, SPG18A, SPG18B
ChromosomeChromosome number
8
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p11.23
SummarySummary of gene provided in NCBI Entrez Gene.
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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004154 hsa-miR-192-5p Microarray 16822819
MIRT025281 hsa-miR-34a-5p Proteomics 21566225
MIRT025281 hsa-miR-34a-5p Proteomics 21566225
MIRT025281 hsa-miR-34a-5p Proteomics 21566225
MIRT031903 hsa-miR-16-5p Proteomics 18668040
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19240031, 21343306, 22119785, 30021884, 30352685
GO:0005783 Component Endoplasmic reticulum IDA
GO:0005789 Component Endoplasmic reticulum membrane IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane IDA 16835267, 19240031
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MAQLGAVVAVASSFFCASLFSAVHKIEEGHIGVYYRGGALLTSTSGPGFHLMLPFITSYK
SVQTTLQTDEVKNVPCGTSGGVMIYFDRIEVVNFLVPNAVYDIVKNYTADYDKALIFNKI
HHELNQFCSVHTLQEVYIELFDQIDENLKLALQQDLTSMAPGLVIQAVRVTKPNIPEAIR
RNYELMESEKTKLLIAAQKQKVVEKEAETERKKALI
EAEKVAQVAEITYGQKVMEKETEK
KISEIEDAAFLAREKAKADAECYTAMKIAEANKLKLTPEYLQLMKYKAIASNSKIYFGKD
IPNMFMDSAGSVSKQFEGLADKLSFGLEDEPLETATKEN
Sequence length 339
Interactions View interactions

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