Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11160
Gene name Gene Name - the full gene name approved by the HGNC.
ER lipid raft associated 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ERLIN2
Synonyms (NCBI Gene) Gene synonyms aliases
C8orf2, Erlin-2, NET32, SPFH2, SPG18, SPG18A, SPG18B
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p11.23
Summary Summary 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
SNPs SNP 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
miRNA miRNA 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, 33961781
GO:0005783 Component Endoplasmic reticulum IDA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0005789 Component Endoplasmic reticulum membrane IDA 16835267, 19240031
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611605 1356 ENSG00000147475
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
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10449903}.
Sequence
MAQLGAVVAVASSFFCASLFSAVHKIEEGHIGVYYRGGALLTSTSGPGFHLMLPFITSYK
SVQTTLQTDEVKNVPCGTSGGVMIYFDRIEVVNFLVPNAVYDIVKNYTADYDKALIFNKI
HHELNQFCSVHTLQEVYIELFDQIDENLKLALQQDLTSMAPGLVIQAVRVTKPNIPEAIR
RNYELMESEKTKLLIAAQKQKVVEKEAETERKKALI
EAEKVAQVAEITYGQKVMEKETEK
KISEIEDAAFLAREKAKADAECYTAMKIAEANKLKLTPEYLQLMKYKAIASNSKIYFGKD
IPNMFMDSAGSVSKQFEGLADKLSFGLEDEPLETATKEN
Sequence length 339
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hereditary spastic paraplegia Hereditary spastic paraplegia, Hereditary spastic paraplegia 18 rs1802811311, rs587776893, rs398123002, rs1554517382 N/A
Spastic Paraplegia spastic paraplegia, Spastic paraplegia 18a, autosomal dominant rs1554517327, rs1585896928, rs1802811311, rs1052410160 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome N/A N/A GenCC
Lateral Sclerosis juvenile primary lateral sclerosis N/A N/A GenCC
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 33424830
Astrocytoma Associate 32883232
Breast Neoplasms Associate 22681620, 37831636
Breast Neoplasms Stimulate 22690709
Carcinogenesis Associate 22681620
Carcinoma Hepatocellular Associate 22690709
Carcinoma Squamous Cell Associate 37575065
Hereditary Breast and Ovarian Cancer Syndrome Associate 22681620
Liver Neoplasms Associate 34946825
Lymphatic Metastasis Stimulate 33424830