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EFEMP2 (EGF containing fibulin like extracellular matrix protein 2)

Identity

Alias_namesEGF-containing fibulin-like extracellular matrix protein 2
Alias_symbol (synonym)FBLN4
UPH1
Other aliasARCL1B
MBP1
HGNC (Hugo) EFEMP2
LocusID (NCBI) 30008
Atlas_Id 54977
Location 11q13.1  [Link to chromosome band 11q13]
Location_base_pair Starts at 65866441 and ends at 65872934 bp from pter ( according to hg38-Dec_2013)

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(2;2)(p22;p22) LTBP1/BIRC6::del(2)(p22p22) LTBP1/BIRC6


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(2;2)(p22;p22) LTBP1/BIRC6::del(2)(p22p22) LTBP1/BIRC6


External links

Nomenclature
HGNC (Hugo)EFEMP2   3219
Cards
Entrez_Gene (NCBI)EFEMP2  30008  EGF containing fibulin like extracellular matrix protein 2
AliasesARCL1B; FBLN4; MBP1; UPH1
GeneCards (Weizmann)EFEMP2
Ensembl hg19 (Hinxton)ENSG00000172638 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172638 [Gene_View]  chr11:65866441-65872934 [Contig_View]  EFEMP2 [Vega]
ICGC DataPortalENSG00000172638
TCGA cBioPortalEFEMP2
AceView (NCBI)EFEMP2
Genatlas (Paris)EFEMP2
WikiGenes30008
SOURCE (Princeton)EFEMP2
Genetics Home Reference (NIH)EFEMP2
Genomic and cartography
GoldenPath hg38 (UCSC)EFEMP2  -     chr11:65866441-65872934 -  11q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EFEMP2  -     11q13.1   [Description]    (hg19-Feb_2009)
EnsemblEFEMP2 - 11q13.1 [CytoView hg19]  EFEMP2 - 11q13.1 [CytoView hg38]
Mapping of homologs : NCBIEFEMP2 [Mapview hg19]  EFEMP2 [Mapview hg38]
OMIM604633   614437   
Gene and transcription
Genbank (Entrez)AB030655 AB209121 AF093119 AF109121 AF124486
RefSeq transcript (Entrez)NM_016938
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EFEMP2
Cluster EST : UnigeneHs.731454 [ NCBI ]
CGAP (NCI)Hs.731454
Alternative Splicing GalleryENSG00000172638
Gene ExpressionEFEMP2 [ NCBI-GEO ]   EFEMP2 [ EBI - ARRAY_EXPRESS ]   EFEMP2 [ SEEK ]   EFEMP2 [ MEM ]
Gene Expression Viewer (FireBrowse)EFEMP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)30008
GTEX Portal (Tissue expression)EFEMP2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95967   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95967  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95967
Splice isoforms : SwissVarO95967
PhosPhoSitePlusO95967
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)   
Domains : Interpro (EBI)cEGF    Efemp2    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    Growth_fac_rcpt_   
Domain families : Pfam (Sanger)cEGF (PF12662)    EGF_CA (PF07645)   
Domain families : Pfam (NCBI)pfam12662    pfam07645   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  
Conserved Domain (NCBI)EFEMP2
DMDM Disease mutations30008
Blocks (Seattle)EFEMP2
PDB (SRS)2KL7   
PDB (PDBSum)2KL7   
PDB (IMB)2KL7   
PDB (RSDB)2KL7   
Structural Biology KnowledgeBase2KL7   
SCOP (Structural Classification of Proteins)2KL7   
CATH (Classification of proteins structures)2KL7   
SuperfamilyO95967
Human Protein AtlasENSG00000172638
Peptide AtlasO95967
HPRD05221
IPIIPI00296058   IPI00556657   IPI00978802   IPI00979521   IPI00982136   IPI00980851   IPI00982786   IPI00984215   IPI00978104   IPI00984702   IPI00983451   IPI00984078   
Protein Interaction databases
DIP (DOE-UCLA)O95967
IntAct (EBI)O95967
FunCoupENSG00000172638
BioGRIDEFEMP2
STRING (EMBL)EFEMP2
ZODIACEFEMP2
Ontologies - Pathways
QuickGOO95967
Ontology : AmiGOextracellular matrix structural constituent  calcium ion binding  protein binding  extracellular region  basement membrane  extracellular exosome  extracellular vesicle  
Ontology : EGO-EBIextracellular matrix structural constituent  calcium ion binding  protein binding  extracellular region  basement membrane  extracellular exosome  extracellular vesicle  
NDEx NetworkEFEMP2
Atlas of Cancer Signalling NetworkEFEMP2
Wikipedia pathwaysEFEMP2
Orthology - Evolution
OrthoDB30008
GeneTree (enSembl)ENSG00000172638
Phylogenetic Trees/Animal Genes : TreeFamEFEMP2
HOVERGENO95967
HOGENOMO95967
Homologs : HomoloGeneEFEMP2
Homology/Alignments : Family Browser (UCSC)EFEMP2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEFEMP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFEMP2
dbVarEFEMP2
ClinVarEFEMP2
1000_GenomesEFEMP2 
Exome Variant ServerEFEMP2
ExAC (Exome Aggregation Consortium)EFEMP2 (select the gene name)
Genetic variants : HAPMAP30008
Genomic Variants (DGV)EFEMP2 [DGVbeta]
DECIPHEREFEMP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEFEMP2 
Mutations
ICGC Data PortalEFEMP2 
TCGA Data PortalEFEMP2 
Broad Tumor PortalEFEMP2
OASIS PortalEFEMP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEFEMP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEFEMP2
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch EFEMP2
DgiDB (Drug Gene Interaction Database)EFEMP2
DoCM (Curated mutations)EFEMP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EFEMP2 (select a term)
intoGenEFEMP2
Cancer3DEFEMP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604633    614437   
Orphanet21520    12025   
MedgenEFEMP2
Genetic Testing Registry EFEMP2
NextProtO95967 [Medical]
TSGene30008
GENETestsEFEMP2
Huge Navigator EFEMP2 [HugePedia]
snp3D : Map Gene to Disease30008
BioCentury BCIQEFEMP2
ClinGenEFEMP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD30008
Chemical/Pharm GKB GenePA27653
Clinical trialEFEMP2
Miscellaneous
canSAR (ICR)EFEMP2 (select the gene name)
Probes
Litterature
PubMed49 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEFEMP2
EVEXEFEMP2
GoPubMedEFEMP2
iHOPEFEMP2
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 : Fri May 19 12:14:17 CEST 2017

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