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EMILIN2 (elastin microfibril interfacer 2)

Identity

Alias_symbol (synonym)FLJ33200
FOAP-10
Other aliasEMILIN-2
HGNC (Hugo) EMILIN2
LocusID (NCBI) 84034
Atlas_Id 51561
Location 18p11.32  [Link to chromosome band 18p11]
Location_base_pair Starts at 2847030 and ends at 2914092 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
NKAIN1 (1p35.2) / EMILIN2 (18p11.32)

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)EMILIN2   19881
Cards
Entrez_Gene (NCBI)EMILIN2  84034  elastin microfibril interfacer 2
AliasesEMILIN-2; FOAP-10
GeneCards (Weizmann)EMILIN2
Ensembl hg19 (Hinxton)ENSG00000132205 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132205 [Gene_View]  chr18:2847030-2914092 [Contig_View]  EMILIN2 [Vega]
ICGC DataPortalENSG00000132205
TCGA cBioPortalEMILIN2
AceView (NCBI)EMILIN2
Genatlas (Paris)EMILIN2
WikiGenes84034
SOURCE (Princeton)EMILIN2
Genetics Home Reference (NIH)EMILIN2
Genomic and cartography
GoldenPath hg38 (UCSC)EMILIN2  -     chr18:2847030-2914092 +  18p11.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EMILIN2  -     18p11.32   [Description]    (hg19-Feb_2009)
EnsemblEMILIN2 - 18p11.32 [CytoView hg19]  EMILIN2 - 18p11.32 [CytoView hg38]
Mapping of homologs : NCBIEMILIN2 [Mapview hg19]  EMILIN2 [Mapview hg38]
OMIM608928   
Gene and transcription
Genbank (Entrez)AB026706 AF270513 AI356740 AK090519 AL552384
RefSeq transcript (Entrez)NM_032048
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EMILIN2
Cluster EST : UnigeneHs.532815 [ NCBI ]
CGAP (NCI)Hs.532815
Alternative Splicing GalleryENSG00000132205
Gene ExpressionEMILIN2 [ NCBI-GEO ]   EMILIN2 [ EBI - ARRAY_EXPRESS ]   EMILIN2 [ SEEK ]   EMILIN2 [ MEM ]
Gene Expression Viewer (FireBrowse)EMILIN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84034
GTEX Portal (Tissue expression)EMILIN2
Human Protein AtlasENSG00000132205-EMILIN2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BXX0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BXX0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BXX0
Splice isoforms : SwissVarQ9BXX0
PhosPhoSitePlusQ9BXX0
Domaine pattern : Prosite (Expaxy)C1Q (PS50871)    EMI (PS51041)   
Domains : Interpro (EBI)C1q_dom    EMI_domain    Tumour_necrosis_fac-like_dom   
Domain families : Pfam (Sanger)C1q (PF00386)    EMI (PF07546)   
Domain families : Pfam (NCBI)pfam00386    pfam07546   
Domain families : Smart (EMBL)C1Q (SM00110)  
Conserved Domain (NCBI)EMILIN2
DMDM Disease mutations84034
Blocks (Seattle)EMILIN2
SuperfamilyQ9BXX0
Human Protein Atlas [tissue]ENSG00000132205-EMILIN2 [tissue]
Peptide AtlasQ9BXX0
HPRD09937
IPIIPI00012510   IPI00166870   
Protein Interaction databases
DIP (DOE-UCLA)Q9BXX0
IntAct (EBI)Q9BXX0
FunCoupENSG00000132205
BioGRIDEMILIN2
STRING (EMBL)EMILIN2
ZODIACEMILIN2
Ontologies - Pathways
QuickGOQ9BXX0
Ontology : AmiGOprotein binding  extracellular region  proteinaceous extracellular matrix  collagen trimer  extracellular space  cell adhesion  biological_process  extracellular matrix constituent conferring elasticity  extracellular matrix  
Ontology : EGO-EBIprotein binding  extracellular region  proteinaceous extracellular matrix  collagen trimer  extracellular space  cell adhesion  biological_process  extracellular matrix constituent conferring elasticity  extracellular matrix  
NDEx NetworkEMILIN2
Atlas of Cancer Signalling NetworkEMILIN2
Wikipedia pathwaysEMILIN2
Orthology - Evolution
OrthoDB84034
GeneTree (enSembl)ENSG00000132205
Phylogenetic Trees/Animal Genes : TreeFamEMILIN2
HOVERGENQ9BXX0
HOGENOMQ9BXX0
Homologs : HomoloGeneEMILIN2
Homology/Alignments : Family Browser (UCSC)EMILIN2
Gene fusions - Rearrangements
Tumor Fusion PortalEMILIN2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEMILIN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EMILIN2
dbVarEMILIN2
ClinVarEMILIN2
1000_GenomesEMILIN2 
Exome Variant ServerEMILIN2
ExAC (Exome Aggregation Consortium)ENSG00000132205
GNOMAD BrowserENSG00000132205
Genetic variants : HAPMAP84034
Genomic Variants (DGV)EMILIN2 [DGVbeta]
DECIPHEREMILIN2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEMILIN2 
Mutations
ICGC Data PortalEMILIN2 
TCGA Data PortalEMILIN2 
Broad Tumor PortalEMILIN2
OASIS PortalEMILIN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEMILIN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEMILIN2
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 EMILIN2
DgiDB (Drug Gene Interaction Database)EMILIN2
DoCM (Curated mutations)EMILIN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EMILIN2 (select a term)
intoGenEMILIN2
Cancer3DEMILIN2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608928   
Orphanet
DisGeNETEMILIN2
MedgenEMILIN2
Genetic Testing Registry EMILIN2
NextProtQ9BXX0 [Medical]
TSGene84034
GENETestsEMILIN2
Target ValidationEMILIN2
Huge Navigator EMILIN2 [HugePedia]
snp3D : Map Gene to Disease84034
BioCentury BCIQEMILIN2
ClinGenEMILIN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84034
Chemical/Pharm GKB GenePA134880588
Clinical trialEMILIN2
Miscellaneous
canSAR (ICR)EMILIN2 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEMILIN2
EVEXEMILIN2
GoPubMedEMILIN2
iHOPEMILIN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:11:59 CET 2017

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