EN1 Gene

Aliases
for EN1 gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC02M116805 GC02M117520 GC02M119506 GC02M119315 GC02M111924

Summaries
for EN1 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for EN1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000002.11  NC_018913.2  NT_005403.18  

SwitchGear Promoter luciferase reporter plasmid: EN1 promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EN1

EN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M119694:  view genomic region     (about GC identifiers)

Proteins
for EN1 gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for EN1: NX_Q05925

Explore proteomics data for EN1 at MOPED

Post-translational modifications: 

EN1 Human Recombinant Protein Products:

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	Cloud-Clone Corp. Proteins for EN1
	Search eBioscience for Proteins for EN1
	antibodies-online proteins for EN1 (4 products)
	antibodies-online peptides for EN1

EN1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of EN1
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	Novus Biologicals EN1 Antibodies
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	antibodies-online antibodies for EN1 (8 products)

EN1 Assay Products:

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	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for EN1 Cloud-Clone Corp. CLIAs for EN1
	Search eBioscience for ELISAs for EN1
	antibodies-online kits for EN1 (6 products)

Domains /
Families
for EN1 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: Q05925

Find genes that share domains with EN1           About GenesLikeMe

Function
for EN1 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 3 molecular function terms:    About this table

Selected MGI mutant phenotypes (inferred from 16 alleles) (MGI details for En1)

genOway: Develop your customized and physiologically relevant rodent model for EN1

miRNA Products:		Block miRNA regulation of human, mouse, rat EN1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate EN1 (see all 28):
		hsa-miR-181c hsa-miR-300 hsa-miR-128 hsa-miR-29c hsa-miR-29a hsa-miR-944 hsa-miR-374a hsa-miR-624
		SwitchGear 3'UTR luciferase reporter plasmid: EN1 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for EN1
		Predesigned siRNA for gene silencing in human, mouse, rat EN1

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for EN1

Clone Products:		OriGene clones in human, mouse for EN1 (see all 6) OriGene ORF clones in mouse, rat for EN1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: EN1 (NM_001426)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for EN1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EN1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for EN1
		Browse ESI BIO Cell Lines and PureStem Progenitors for EN1

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EN1

Localization
for EN1 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
nucleus	5
cytosol	1
extracellular	1
plasma membrane	1

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Gene Ontology (GO): 2 cellular component terms:    About this table

Pathways & Interactions
for EN1 gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for EN1 About     See pathways by source

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	SuperPath	Contained pathways About
1	SIDS Susceptibility Pathways	SIDS Susceptibility Pathways

1 BioSystems Pathway for EN1

SIDS Susceptibility Pathways

Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

Drugs & Compounds
for EN1 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Transcripts
for EN1 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for EN1 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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EN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

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Brain (Nervous System)    fully expand to see all 21 entries
Dopaminergic Progenitor Cells Substantia Nigra pars Compacta
Hippocampus
Dopaminergic neuron-like cells
Dermis (Integumentary System)    fully expand to see all 15 entries
Dermal Mesenchyme Cells Dorsal Subectodermal Mesenchyme
Neurons
Dopaminergic Progenitor Cells Substantia Nigra pars Compacta
Dopaminergic neuron-like cells
Neural Tube (Nervous System)    fully expand to see all 15 entries
Late Floor Plate Cells Mesencephalic Floor Plate
Metencephalon
Midbrain neural progenitor-like cells
Somite (Muscoskeletal System)    fully expand to see all 8 entries
Dermal Progenitor Cells Sacral Dorsomedial Dermomyotome Lip

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for EN1
		Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EN1
		QuantiTect SYBR Green Assays in human, mouse, rat EN1
		QuantiFast Probe-based Assays in human, mouse, rat EN1

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EN1

Orthologs
for EN1 gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for EN1 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for EN1 gene

NOTO²  EMX2²  VAX1²  EMX1²  VAX2²  EN2²  

2 SIMAP similar genes for EN1 using alignment to 1 protein entry:     HME1_HUMAN:

POU6F1    EN2

Find genes that share paralogs with EN1           About GenesLikeMe

Genomic Variants
for EN1 gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for EN1 (see all 159)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1890523001,2		--	119599277(+)	AAGTGC/TCCCTC	1	--	ds5001		0	--	--	--	--
rs130052421,2	C,F	--	119599377(+)	ATAAAA/TGAAAG	1	--	ds5001		10		NA WA CSA EA	372
rs1469680831,2		--	119599436(+)	GGAGGC/TCGCCA	1	--	ds5001		0	--	--	--	--
rs1812448221,2		--	119599521(+)	GTCGGC/TCTTTG	1	--	ds5001		0	--	--	--	--
rs1379883951,2		--	119599535(+)	TCCCTG/TGAACG	1	--	ds5001		0	--	--	--	--
rs562062901,2	C,F	--	119599590(+)	CTAAAC/ACCAAA	1	--	ds5001		2		NA	122
rs1122463441,2	C,F	--	119599601(+)	TCTGGG/ATCGCG	1	--	ds5001		1		NA	2
rs130059381,2	C,A	--	119599735(+)	AGGAGA/GGCCGC	1	--	ds5001		7		NA WA EA	366
rs1431394061,2		--	119599997(+)	GCCGGA/CGATGC	1	--	ut31		0	--	--	--	--
rs1849457141,2		--	119600025(+)	AGAAGC/TAATGA	1	--	ut31		0	--	--	--	--

HapMap Linkage Disequilibrium report for EN1 (119599747 - 119605759 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for EN1:    About this table    

Variant ID	Type	Subtype	PubMed ID
nsv874956	CNV	Loss	21882294

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing EN1

DNA2.0 Custom Variant and Variant Library Synthesis for EN1

Disorders / Diseases
for EN1 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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5 diseases for EN1

2 Novoseek inferred disease relationships for EN1 gene    About this table

Publications
for EN1 gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for EN1 gene, integrated from 10 sources (see all 59): (articles sorted by number of sources associating them with EN1)

Utopia: connect your pdf to the dynamic world of online information

1. Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders. (PubMed id 19018235)^{1, 4, 9} Laroche F....Robel L. (Psychiatr. Genet. 2008)
2. Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. (PubMed id 15240857)^{1, 4, 9} Weese-Mayer D.E....Marazita M.L. (Pediatr. Res. 2004)
3. Cloning and sequence comparison of the mouse, human, and chicken engrailed genes reveal potential functional domains and regulatory regions. (PubMed id 1363401)^{1, 2, 9} Logan C....Joyner A.L. (Dev. Genet. 1992)
4. Association of transcription factor polymorphisms PITX3 and EN1 with Parkinson's disease. (PubMed id 19345444)^{1, 4} Haubenberger D....Zimprich A. (Neurobiol. Aging 2011)
5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)^{1, 4} Bailey S.D....Anand S. (Diabetes Care 2010)
6. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PubMed id 19010793)^{1, 4} Baranzini S.E....Oksenberg J.R. (Hum. Mol. Genet. 2009)
7. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)^{1, 4} Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
8. Regional assignment of the human homeobox-containing gene EN1 to chromosome 2q13-q21. (PubMed id 8094370)^{1, 3} KAPhler A....Muenke M. (Genomics 1993)
9. Model-based gene selection shows engrailed 1 is associated with antipsychotic response. (PubMed id 18698228)^{1, 9} Webb B.T....van den Oord E.J. (Pharmacogenet. Genomics 2008)
10. Deregulated expression of PAX5 in medulloblastoma. (PubMed id 7777574)^{1, 9} Kozmik Z....Aguzzi A. (Proc. Natl. Acad. Sci. U.S.A. 1995)

External Searches for EN1 gene

Genome Databases showing EN1 gene

Other Databases showing EN1 gene

Specialized Databases showing EN1 gene

Products
for EN1 gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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