Atlas of Genetics and Cytogenetics in Oncology and Haematology


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EN1 (engrailed homeobox 1)

Identity

Other names-
HGNC (Hugo) EN1
LocusID (NCBI) 2019
Location 2q14.2
Location_base_pair Starts at 119599747 and ends at 119605759 bp from pter ( according to hg19-Feb_2009)
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)EN1   3342
Cards
Entrez_Gene (NCBI)EN1  2019  engrailed homeobox 1
GeneCards (Weizmann)EN1
Ensembl (Hinxton)ENSG00000163064 [Gene_View]  chr2:119599747-119605759 [Contig_View]  EN1 [Vega]
ICGC DataPortalENSG00000163064
cBioPortalEN1
AceView (NCBI)EN1
Genatlas (Paris)EN1
WikiGenes2019
SOURCE (Princeton)NM_001426
Genomic and cartography
GoldenPath (UCSC)EN1  -  2q14.2   chr2:119599747-119605759 -  2q14.2   [Description]    (hg19-Feb_2009)
EnsemblEN1 - 2q14.2 [CytoView]
Mapping of homologs : NCBIEN1 [Mapview]
OMIM131290   
Gene and transcription
Genbank (Entrez)BC111840
RefSeq transcript (Entrez)NM_001426
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_007123 NT_005403 NW_001838847 NW_004929304
Consensus coding sequences : CCDS (NCBI)EN1
Cluster EST : UnigeneHs.271977 [ NCBI ]
CGAP (NCI)Hs.271977
Alternative Splicing : Fast-db (Paris)GSHG0017950
Alternative Splicing GalleryENSG00000163064
Gene ExpressionEN1 [ NCBI-GEO ]     EN1 [ SEEK ]   EN1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ05925 (Uniprot)
NextProtQ05925  [Medical]
With graphics : InterProQ05925
Splice isoforms : SwissVarQ05925 (Swissvar)
Domaine pattern : Prosite (Expaxy)ENGRAILED (PS00033)    HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)Homeobox-engrailed_C-terminal [organisation]   Homeobox_CS [organisation]   Homeobox_dom [organisation]   Homeobox_metazoa [organisation]   Homeodomain-like [organisation]   Homeodomain_engrailed [organisation]   Homoebox-engrailed_CS [organisation]  
Related proteins : CluSTrQ05925
Domain families : Pfam (Sanger)Engrail_1_C_sig (PF10525)    Homeobox (PF00046)   
Domain families : Pfam (NCBI)pfam10525    pfam00046   
Domain families : Smart (EMBL)HOX (SM00389)  
DMDM Disease mutations2019
Blocks (Seattle)Q05925
Human Protein AtlasENSG00000163064 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ05925
HPRD08835
IPIIPI00016734   
Protein Interaction databases
DIP (DOE-UCLA)Q05925
IntAct (EBI)Q05925
FunCoupENSG00000163064
BioGRIDEN1
InParanoidQ05925
Interologous Interaction database Q05925
IntegromeDBEN1
STRING (EMBL)EN1
Ontologies - Pathways
Ontology : AmiGOskeletal system development  sequence-specific DNA binding transcription factor activity  nucleus  anatomical structure morphogenesis  dorsal/ventral pattern formation  proximal/distal pattern formation  membrane  midbrain development  hindbrain development  midbrain-hindbrain boundary development  embryonic forelimb morphogenesis  response to cocaine  pigmentation  sequence-specific DNA binding  positive regulation of transcription from RNA polymerase II promoter  neuron development  
Ontology : EGO-EBIskeletal system development  sequence-specific DNA binding transcription factor activity  nucleus  anatomical structure morphogenesis  dorsal/ventral pattern formation  proximal/distal pattern formation  membrane  midbrain development  hindbrain development  midbrain-hindbrain boundary development  embryonic forelimb morphogenesis  response to cocaine  pigmentation  sequence-specific DNA binding  positive regulation of transcription from RNA polymerase II promoter  neuron development  
Protein Interaction DatabaseEN1
Wikipedia pathwaysEN1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)EN1
snp3D : Map Gene to Disease2019
SNP (GeneSNP Utah)EN1
SNP : HGBaseEN1
Genetic variants : HAPMAPEN1
Exome VariantEN1
1000_GenomesEN1 
ICGC programENSG00000163064 
Somatic Mutations in Cancer : COSMICEN1 
CONAN: Copy Number AnalysisEN1 
Mutations and Diseases : HGMDEN1
Mutations and Diseases : intOGenEN1
Genomic VariantsEN1  EN1 [DGVbeta]
dbVarEN1
ClinVarEN1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM131290   
MedgenEN1
GENETestsEN1
Disease Genetic AssociationEN1
Huge Navigator EN1 [HugePedia]  EN1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneEN1
Homology/Alignments : Family Browser (UCSC)EN1
Phylogenetic Trees/Animal Genes : TreeFamEN1
Chemical/Protein Interactions : CTD2019
Chemical/Pharm GKB GenePA27779
Clinical trialEN1
Cancer Resource (Charite)ENSG00000163064
Other databases
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
CoreMineEN1
iHOPEN1
OncoSearchEN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:45:47 CEST 2014

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