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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

EN1 Gene

protein-coding GIFtS: 57
GCID: GC02M119694

Engrailed Homeobox 1

Alzheimer's & Parkinson's Diseases Congress

16 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Engrailed Homeobox 1¹ ²
Homeobox Protein En-1² ³
Engrailed Homolog 1²
Homeobox Protein Engrailed-1²
hu-En-1²
Hu-En-1³

External Ids:	HGNC: 3342¹	Entrez Gene: 2019²	Ensembl: ENSG00000163064⁷	OMIM: 131290⁵	UniProtKB: Q05925³

Export aliases for EN1 gene to outside databases

Previous GC identifers: GC02M116805 GC02M117520 GC02M119506 GC02M119315 GC02M111924

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for EN1 Gene:

Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en)

gene plays an important role during development in segmentation, where it is required for the formation of posterior

compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that

frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been

implicated in the control of pattern formation during development of the central nervous system. (provided by RefSeq,

Jul 2008)

GeneCards Summary for EN1 Gene:

EN1 (engrailed homeobox 1) is a protein-coding gene. Diseases associated with EN1 include tyrosinemia type iii, and congenital central hypoventilation syndrome. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is NOTO.

Gene Wiki entry 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.2 NT_022135.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the EN1 gene promoter:
GR USF1 USF2 CUTL1 USF-1:USF-2 Roaz USF-1 GR-alpha NF-kappaB1 Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: EN1 promoter sequence

Search SABiosciences Chromatin IP Primers for EN1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EN1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q14.2 Ensembl cytogenetic band: 2q14.2 HGNC cytogenetic band: 2q14.2

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

GeneLoc information about chromosome 2 GeneLoc Exon Structure

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

Start:	119,599,747 bp from pter	End:	119,605,759 bp from pter
Size:	6,013 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HME1_HUMAN, Q05925 (See protein sequence)

Recommended Name: Homeobox protein engrailed-1

Size: 392 amino acids; 40115 Da

Subcellular location: Nucleus

Secondary accessions: Q4ZG44

Explore the universe of human proteins at neXtProt for EN1: NX_Q05925

Explore proteomics data for EN1 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q05925

EN1 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_001417.3

ENSEMBL proteins:

ENSP00000295206

Human Recombinant Protein Products for EN1:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate for EN1 OriGene Custom MassSpec OriGene Custom Protein Services for EN1
	GenScript Custom Purified and Recombinant Proteins Services for EN1
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for EN1

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--

EN1 for ontologies About GeneDecksing

EN1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of EN1
	Browse R&D Systems for Antibodies
	OriGene Antibodies for EN1 OriGene Custom Antibody Services for EN1
	GenScript Superior Antibodies for EN1
	Novus Biologicals EN1 Antibodies
	Abcam antibodies for EN1
	Cloud-Clone Corp. Antibodies for EN1
	ThermoFisher Antibodies for EN1
	LSBio Antibodies in human, mouse, rat for EN1

Assay Products for EN1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for EN1
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for EN1
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for EN1 Cloud-Clone Corp. CLIAs for EN1

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

NKL: Homeoboxes / ANTP class : NKL subclass

5/7 InterPro protein domains (see all 7):

IPR019737 Homoebox-engrailed_CS

IPR019549 Homeobox-engrailed_C-terminal

IPR017970 Homeobox_CS

IPR020479 Homeobox_metazoa

IPR001356 Homeodomain

Graphical View of Domain Structure for InterPro Entry Q05925

ProtoNet protein and cluster: Q05925

2 Blocks protein domains:

IPB000047 Lambda and other repressor helix-turn-helix signature

IPB000747 'Homeobox' engrailed-type protein

UniProtKB/Swiss-Prot: HME1_HUMAN, Q05925

Similarity: Belongs to the engrailed homeobox family

Similarity: Contains 1 homeobox DNA-binding domain

EN1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

Genatlas biochemistry entry for EN1:

Drosophila segment-polarity gene engrailed homolog 1,homeo domain encoding gene,expressed in embryonic ventral limb

ectoderm,regulator of the ventral limb patterning,inhibits WNT7A expression in ventral limb bud

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	--	--
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0043565	sequence-specific DNA binding	IEA	--

EN1 for ontologies About GeneDecksing

Phenotypes:
15/17 MGI mutant phenotypes (inferred from 16 alleles) (MGI details for En1) (see all 17):

behavior/neurological	cardiovascular system	cellular	embryogenesis	endocrine/exocrine gland
growth/size	hematopoietic system	homeostasis/metabolism	immune system	integument
limbs/digits/tail	mortality/aging	nervous system	normal	pigmentation

EN1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out En1^tm1Alj for EN1

inGenious Targeting Laboratory - Custom generated mouse model solutions for EN1

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EN1

miRNA Products:
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EN1
		8/28 QIAGEN miScript miRNA 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:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for EN1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EN1
		Sirion Biotech Custom design and validation of potent shRNA sequences against EN1

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for EN1
			Sirion Biotech Customized adenovirus for overexpression of EN1 Customized adenovirus for potent knockdown of EN1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		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
		Search LifeMap BioReagents cell lines for EN1
		Sirion Biotech Customized stable knockdown cell line services for EN1 Customized inducible knockdown cell line services for EN1 Customized stable overexpressing cell line services for EN1 Customized inducible overexpressing cell line services for EN1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EN1

(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for EN1 About

See pathways by source

SuperPath

Contained pathways About

SIDS Susceptibility Pathways

SIDS Susceptibility Pathways

1 BioSystems Pathway for EN1

SIDS Susceptibility Pathways

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for EN1

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

4 Interacting proteins for EN1 (Q05925³ ENSP00000295206⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
JUN	P05412³, ENSP00000360266⁴	I2D: score=2 STRING: ENSP00000360266
TLE1	Q04724³, ENSP00000365682⁴	I2D: score=1 STRING: ENSP00000365682
PAX6	P26367³, ENSP00000368401⁴	I2D: score=2 STRING: ENSP00000368401
HDAC1	ENSP00000362649⁴	STRING: ENSP00000362649

About this table

Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	TAS	8684466
GO:0006355	regulation of transcription, DNA-dependent	--	--
GO:0009653	anatomical structure morphogenesis	TAS	8094370
GO:0009953	dorsal/ventral pattern formation	IEA	--
GO:0009954	proximal/distal pattern formation	IEA	--

EN1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for EN1 (HME1)

Search CenterWatch for drugs/clinical trials and news about EN1 / HME1

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for EN1 gene:

NM_001426.3

Unigene Cluster for EN1:

Engrailed homeobox 1

Hs.271977 [show with all ESTs]

Unigene Representative Sequence: NM_001426

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000295206(uc002tlm.3) ENST00000546667

miRNA Products:
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EN1
		8/28 QIAGEN miScript miRNA 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:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for EN1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EN1
		Sirion Biotech Custom design and validation of potent shRNA sequences against 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)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for EN1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EN1

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

2 DOTS entries:

DT.441697 DT.92415194

6 AceView cDNA sequences:

AI924297 NM_001426 AI283135 AI287694 AA853350 BU617408

GeneLoc Exon Structure

(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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

EN1 expression in normal human tissues (normalized intensities) EN1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

EN1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/40 selected tissues (see all 40) fully expand


Brain (Nervous System) fully expand to see all 41 entries
Embryonic Dopaminergic Neurons Ventral Tegmental Area
Thalamus
Embryoid bodies (Highly efficient and large-scale generation of functional dopamine...
Substantia Nigra

Neural Ectoderm (Nervous System) fully expand to see all 15 entries
Isthmus Cells Neural Plate
Embryoid bodies (Highly efficient and large-scale generation of functional dopamine...

Dermis (Integumentary System) fully expand to see all 15 entries
Dermal Mesenchyme Cells Dorsal Subectodermal Mesenchyme

Neural Tube (Nervous System) fully expand to see all 14 entries
Late Floor Plate Cells Mesencephalic Floor Plate
Metencephalon
brain/midbrain/lateral wall

Somite (Muscoskeletal System) fully expand to see all 8 entries
Dermal Progenitor Cells Sacral Dorsomedial Dermomyotome Lip

See EN1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for EN1

SOURCE GeneReport for Unigene cluster: Hs.271977

SABiosciences Expression via Pathway-Focused PCR Array including EN1:

Homeobox (HOX) Genes in human mouse rat

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for EN1
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat EN1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EN1
		QIAGEN 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 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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for EN1 gene from 7/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	En1^{1 , 5}	engrailed 1^{1, 5}	88.49(n)¹ 95.1(a)¹		1 (52.74 cM)⁵ 13798¹ NM_010133.2¹ NP_034263.2¹ 120602418⁵
chicken (Gallus gallus)	Aves	EN1¹	engrailed homeobox 1	67.27(n) 63.64(a)		771008 XM_001234328.2 XP_001234329.2
lizard (Anolis carolinensis)	Reptilia	EN1⁶	Uncharacterized protein	97(a)	1 ↔ 1	1(83055481-83055798)
African clawed frog (Xenopus laevis)	Amphibia	en1-A²	engrailed homolog 1	80.85(n)		D14693.1
zebrafish (Danio rerio)	Actinopterygii	eng1b¹	engrailed 1b	62.57(n) 67.86(a)		541371 NM_001013498.1 NP_001013516.1
fruit fly (Drosophila melanogaster)	Insecta	en³ inv¹	neuroblast determination specific RNA polymerase more³ invected¹	70(a) (best of 2)³ 49.47(n)¹ 42.69(a)¹		36239¹ NM_165839.2¹ NP_725057.2¹
worm (Caenorhabditis elegans)	Secernentea	ceh-16⁶	Homeobox protein engrailed-like ceh-16	37(a)	possible ortholog	III(8622658-8626000)

ENSEMBL Gene Tree for EN1 (if available)
TreeFam Gene Tree for EN1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

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

EN1 for paralogs About GeneDecksing

(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs189052300^1,2		--	119599277(+)	`AAGTGC/TCCCTC`	1	--	ds500¹		0	--	--	--	--
rs13005242^1,2	C,F	--	119599377(+)	`ATAAAA/TGAAAG`	1	--	ds500¹		10		NA WA CSA EA	372
rs146968083^1,2		--	119599436(+)	`GGAGGC/TCGCCA`	1	--	ds500¹		0	--	--	--	--
rs181244822^1,2		--	119599521(+)	`GTCGGC/TCTTTG`	1	--	ds500¹		0	--	--	--	--
rs137988395^1,2		--	119599535(+)	`TCCCTG/TGAACG`	1	--	ds500¹		0	--	--	--	--
rs56206290^1,2	C,F	--	119599590(+)	`CTAAAC/ACCAAA`	1	--	ds500¹		2		NA	122
rs112246344^1,2	C,F	--	119599601(+)	`TCTGGG/ATCGCG`	1	--	ds500¹		1		NA	2
rs13005938^1,2	C,A	--	119599735(+)	`AGGAGA/GGCCGC`	1	--	ds500¹		7		NA WA EA	366
rs143139406^1,2		--	119599997(+)	`GCCGGA/CGATGC`	1	--	ut3¹		0	--	--	--	--
rs184945714^1,2		--	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

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EN1

DNA2.0 Custom Variant and Variant Library Synthesis for EN1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

EN1 for disorders           About GeneDecksing

OMIM gene information: 131290    OMIM disorders: --

16 diseases for EN1:    About MalaCards

tyrosinemia type iii congenital central hypoventilation syndrome central hypoventilation syndrome bullous pemphigoid

tyrosinemia cerebellar hypoplasia sudden infant death syndrome joubert syndrome

adenoid cystic carcinoma medulloblastoma adenoiditis parkinson's disease

astrocytoma retinitis colorectal cancer neuronitis

2 diseases from the University of Copenhagen DISEASES database for EN1:

Parkinson's disease Tyrosinemia type III

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

2 Novoseek inferred disease relationships for EN1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
sudden infant death syndrome	38.2	1	9056537 (1)
congenital malformation	18.7	1	11815869 (1)

Genetic Association Database (GAD): EN1
Human Genome Epidemiology (HuGE) Navigator: EN1 (9 documents)

Export disorders for EN1 gene to outside databases

(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)
About This Section

PubMed articles for EN1 gene, integrated from 9 sources (see all 60):
(articles sorted by number of sources associating them with EN1)

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

Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders. (PubMed id 19018235)^{1, 4, 9} Laroche F....Robel L. (2008)
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. (2004)
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. (1992)
Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)^{1, 4} Bailey S.D....Anand S. (2010)
Association of transcription factor polymorphisms PITX3 and EN1 with Parkinson's disease. (PubMed id 19345444)^{1, 4} Haubenberger D....Zimprich A. (2009)
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. (2009)
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PubMed id 19010793)^{1, 4} Baranzini S.E....Oksenberg J.R. (2008)
Regional assignment of the human homeobox-containing gene EN1 to chromosome 2q13-q21. (PubMed id 8094370)^{1, 3} Kohler A....Muenke M. (1993)
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. (2008)
Deregulated expression of PAX5 in medulloblastoma. (PubMed id 7777574)^{1, 9} Kozmik Z....Aguzzi A. (1995)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2019	HGNC: 3342	AceView: EN1	Ensembl:ENSG00000163064	euGenes: HUgn2019
ECgene: EN1	H-InvDB: EN1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for EN1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for EN1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for EN1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for EN1 gene:
Search GeneIP for patents involving EN1

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