Gene Gene information from NCBI Gene database.
Entrez ID 11160
Gene name ER lipid raft associated 2
Gene symbol ERLIN2
Synonyms (NCBI Gene)
C8orf2Erlin-2NET32SPFH2SPG18SPG18ASPG18B
Chromosome 8
Chromosome location 8p11.23
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 me
SNPs SNP information provided by dbSNP.
5
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.
577
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611605 1356 ENSG00000147475
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    ABC-family proteins mediated transport
Signaling by FGFR1 in disease
Defective CFTR causes cystic fibrosis
Signaling by plasma membrane FGFR1 fusions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
159
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the nervous system Likely pathogenic rs1803175282 RCV001814329
Hereditary spastic paraplegia Likely pathogenic; Pathogenic rs1802811311, rs2129680761, rs2129710278 RCV001391375
RCV001391376
RCV001391377
Hereditary spastic paraplegia 18 Pathogenic; Likely pathogenic rs2487278624, rs2487332031, rs587776893, rs1554517382, rs398123002, rs2129726150, rs779335579, rs2129728774 RCV003327253
RCV004556099
RCV000023901
RCV000499431
RCV000077785
RCV001391378
RCV001391379
RCV001391380
Spastic paraplegia Pathogenic; Likely pathogenic rs1393816662, rs751227210, rs2487294702, rs2487326803, rs2487305222, rs2487289295, rs1554517327, rs1585896928, rs1802811311, rs1052410160, rs1803173923, rs1803294545 RCV001383929
RCV001959693
RCV002791092
RCV002851165
RCV003588496
RCV003752225
RCV000544936
RCV000791854
RCV001065814
RCV001035446
RCV001229289
RCV001233395
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Likely benign; Conflicting classifications of pathogenicity rs780565340, rs191003311 RCV005928343
RCV005892280
ERLIN2-related disorder Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign rs1338086200, rs150529140, rs191003311, rs181608326, rs1031026835 RCV004731263
RCV003943452
RCV003907684
RCV003967656
RCV003907220
Nonpapillary renal cell carcinoma Conflicting classifications of pathogenicity rs191003311 RCV005892281
Spastic paraparesis Uncertain significance rs1802975180 RCV005245511
Associations from Text MiningDisease 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