Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

ERLIN2 (ER lipid raft associated 2)

Identity

Alias_namesC8orf2
SPFH2
Erlin-2
chromosome 8 open reading frame 2
SPFH domain family, member 2
Alias_symbol (synonym)NET32
SPG18
Other alias
HGNC (Hugo) ERLIN2
LocusID (NCBI) 11160
Atlas_Id 52961
Location 8p11.23  [Link to chromosome band 8p11]
Location_base_pair Starts at 37594197 and ends at 37604071 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ERLIN2 (8p11.23) / FGFR1 (8p11.23)ERLIN2 (8p11.23) / TMEM68 (8q12.1)ROBO2 (3p12.3) / ERLIN2 (8p11.23)
TBC1D25 (Xp11.23) / ERLIN2 (8p11.23)ROBO2 3p12.3 / ERLIN2 8p11.23TBC1D25 Xp11.23 / ERLIN2 8p11.23

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ERLIN2   1356
LRG (Locus Reference Genomic)LRG_1040
Cards
Entrez_Gene (NCBI)ERLIN2  11160  ER lipid raft associated 2
AliasesC8orf2; Erlin-2; NET32; SPFH2; 
SPG18
GeneCards (Weizmann)ERLIN2
Ensembl hg19 (Hinxton)ENSG00000147475 [Gene_View]  chr8:37594197-37604071 [Contig_View]  ERLIN2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000147475 [Gene_View]  chr8:37594197-37604071 [Contig_View]  ERLIN2 [Vega]
ICGC DataPortalENSG00000147475
TCGA cBioPortalERLIN2
AceView (NCBI)ERLIN2
Genatlas (Paris)ERLIN2
WikiGenes11160
SOURCE (Princeton)ERLIN2
Genetics Home Reference (NIH)ERLIN2
Genomic and cartography
GoldenPath hg19 (UCSC)ERLIN2  -     chr8:37594197-37604071 +  8p11.23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ERLIN2  -     8p11.23   [Description]    (hg38-Dec_2013)
EnsemblERLIN2 - 8p11.23 [CytoView hg19]  ERLIN2 - 8p11.23 [CytoView hg38]
Mapping of homologs : NCBIERLIN2 [Mapview hg19]  ERLIN2 [Mapview hg38]
OMIM611225   611605   
Gene and transcription
Genbank (Entrez)AK057557 AK291394 AK297279 AL442077 AY358108
RefSeq transcript (Entrez)NM_001003790 NM_001003791 NM_007175
RefSeq genomic (Entrez)NC_000008 NC_018919 NG_032059 NT_167187 NW_004929337
Consensus coding sequences : CCDS (NCBI)ERLIN2
Cluster EST : UnigeneHs.705490 [ NCBI ]
CGAP (NCI)Hs.705490
Alternative Splicing GalleryENSG00000147475
Gene ExpressionERLIN2 [ NCBI-GEO ]   ERLIN2 [ EBI - ARRAY_EXPRESS ]   ERLIN2 [ SEEK ]   ERLIN2 [ MEM ]
Gene Expression Viewer (FireBrowse)ERLIN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11160
GTEX Portal (Tissue expression)ERLIN2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO94905   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO94905  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO94905
Splice isoforms : SwissVarO94905
PhosPhoSitePlusO94905
Domains : Interpro (EBI)Band_7   
Domain families : Pfam (Sanger)Band_7 (PF01145)   
Domain families : Pfam (NCBI)pfam01145   
Domain families : Smart (EMBL)PHB (SM00244)  
Conserved Domain (NCBI)ERLIN2
DMDM Disease mutations11160
Blocks (Seattle)ERLIN2
SuperfamilyO94905
Human Protein AtlasENSG00000147475
Peptide AtlasO94905
HPRD15437
IPIIPI00026942   IPI00386655   IPI00384365   IPI00432727   IPI01011577   IPI00973933   
Protein Interaction databases
DIP (DOE-UCLA)O94905
IntAct (EBI)O94905
FunCoupENSG00000147475
BioGRIDERLIN2
STRING (EMBL)ERLIN2
ZODIACERLIN2
Ontologies - Pathways
QuickGOO94905
Ontology : AmiGOprotein tyrosine kinase activity  protein binding  cytoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  plasma membrane  plasma membrane  cholesterol metabolic process  cholesterol binding  integral component of membrane  peptidyl-tyrosine phosphorylation  ER-associated ubiquitin-dependent protein catabolic process  ubiquitin protein ligase binding  SREBP signaling pathway  protein complex  membrane raft  negative regulation of cholesterol biosynthetic process  negative regulation of fatty acid biosynthetic process  extracellular exosome  
Ontology : EGO-EBIprotein tyrosine kinase activity  protein binding  cytoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  plasma membrane  plasma membrane  cholesterol metabolic process  cholesterol binding  integral component of membrane  peptidyl-tyrosine phosphorylation  ER-associated ubiquitin-dependent protein catabolic process  ubiquitin protein ligase binding  SREBP signaling pathway  protein complex  membrane raft  negative regulation of cholesterol biosynthetic process  negative regulation of fatty acid biosynthetic process  extracellular exosome  
NDEx NetworkERLIN2
Atlas of Cancer Signalling NetworkERLIN2
Wikipedia pathwaysERLIN2
Orthology - Evolution
OrthoDB11160
GeneTree (enSembl)ENSG00000147475
Phylogenetic Trees/Animal Genes : TreeFamERLIN2
HOVERGENO94905
HOGENOMO94905
Homologs : HomoloGeneERLIN2
Homology/Alignments : Family Browser (UCSC)ERLIN2
Gene fusions - Rearrangements
Fusion : MitelmanERLIN2/FGFR1 [8p11.23/8p11.23]  
Fusion : MitelmanROBO2/ERLIN2 [3p12.3/8p11.23]  [t(3;8)(p12;p11)]  
Fusion : MitelmanTBC1D25/ERLIN2 [Xp11.23/8p11.23]  [t(X;8)(p11;p11)]  
Fusion: TCGAROBO2 3p12.3 ERLIN2 8p11.23 LUSC
Fusion: TCGATBC1D25 Xp11.23 ERLIN2 8p11.23 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerERLIN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ERLIN2
dbVarERLIN2
ClinVarERLIN2
1000_GenomesERLIN2 
Exome Variant ServerERLIN2
ExAC (Exome Aggregation Consortium)ERLIN2 (select the gene name)
Genetic variants : HAPMAP11160
Genomic Variants (DGV)ERLIN2 [DGVbeta]
DECIPHER (Syndromes)8:37594197-37604071  ENSG00000147475
CONAN: Copy Number AnalysisERLIN2 
Mutations
ICGC Data PortalERLIN2 
TCGA Data PortalERLIN2 
Broad Tumor PortalERLIN2
OASIS PortalERLIN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICERLIN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDERLIN2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ERLIN2
DgiDB (Drug Gene Interaction Database)ERLIN2
DoCM (Curated mutations)ERLIN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ERLIN2 (select a term)
intoGenERLIN2
Cancer3DERLIN2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611225    611605   
Orphanet19530    20465    18672   
MedgenERLIN2
Genetic Testing Registry ERLIN2
NextProtO94905 [Medical]
TSGene11160
GENETestsERLIN2
Huge Navigator ERLIN2 [HugePedia]
snp3D : Map Gene to Disease11160
BioCentury BCIQERLIN2
ClinGenERLIN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11160
Chemical/Pharm GKB GenePA25961
Clinical trialERLIN2
Miscellaneous
canSAR (ICR)ERLIN2 (select the gene name)
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineERLIN2
EVEXERLIN2
GoPubMedERLIN2
iHOPERLIN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:04:57 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.