EN2 engrailed homeobox 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EN2provided by HGNC
Official Full Name: engrailed homeobox 2provided by HGNC
Primary source: HGNC:HGNC:3343
See related: Ensembl:ENSG00000164778 MIM:131310; AllianceGenome:HGNC:3343
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: 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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 7q36.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (155458129..155464831)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (156638709..156645413)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (155250824..155257526)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Engrailed 2 serves as a master regulator of the super-enhancer in the TNC gene locus in non-small cell lung cancer.
Title: Engrailed 2 serves as a master regulator of the super-enhancer in the TNC gene locus in non-small cell lung cancer.
Hypermethylation of PDX1, EN2, and MSX1 predicts the prognosis of colorectal cancer.
Title: Hypermethylation of PDX1, EN2, and MSX1 predicts the prognosis of colorectal cancer.
Circular RNA circ_0000467 regulates colorectal cancer development via miR-382-5p/EN2 axis.
Title: Circular RNA circ_0000467 regulates colorectal cancer development via miR-382-5p/EN2 axis.
Bidirectional transfer of homeoprotein EN2 across the plasma membrane requires PIP2.
Title: Bidirectional transfer of homeoprotein EN2 across the plasma membrane requires PIP(2).
EN2 as an oncogene promotes tumor progression via regulating CCL20 in colorectal cancer.
Title: EN2 as an oncogene promotes tumor progression via regulating CCL20 in colorectal cancer.
Altered staining patterns and expression level of Engrailed-2 in benign prostatic hyperplasia and prostate Cancer predict prostatic disease progression.
Title: Altered staining patterns and expression level of Engrailed-2 in benign prostatic hyperplasia and prostate Cancer predict prostatic disease progression.
Membrane insertion and secretion of the Engrailed-2 (EN2) transcription factor by prostate cancer cells may induce antiviral activity in the stroma.
Title: Membrane insertion and secretion of the Engrailed-2 (EN2) transcription factor by prostate cancer cells may induce antiviral activity in the stroma.
Urine Engrailed-2 (EN2) has no value as prostate cancer prognostic biomarker.
Title: Is Engrailed-2 (EN2) a truly promising biomarker in prostate cancer detection?
The EN2 transcription factor is a novel ovarian cancer biomarker. It demonstrates prognostic value, correlating with worse Overall Survival and Progression-free Survival.
Title: Engrailed-2 (EN2) - a novel biomarker in epithelial ovarian cancer.
we confirmed that engrailed-2 is the target of hsa-miR-27b in human cytomegalovirus-infected glioma cells
Title: Hsa-miR-27b is up-regulated in cytomegalovirus-infected human glioma cells, targets engrailed-2 and inhibits its expression.

Submit: New GeneRIF Correction See all GeneRIFs (42)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-08-26) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-08-26) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

EN2 (e-PCR), detects polymorphism
- UniSTS:15616

D7S3050 (e-PCR), detects polymorphism
- UniSTS:35588

D7S486 (e-PCR), detects polymorphism
- UniSTS:1556

SHGC-172649 (e-PCR)
- UniSTS:184631

D7S530 (e-PCR), detects polymorphism
- UniSTS:71736

D7S480 (e-PCR)
- UniSTS:40507

EN2_35.2 (e-PCR)
- UniSTS:280655

D7S1824 (e-PCR)
- UniSTS:47184

D7S684 (e-PCR)
- UniSTS:50797

D7S821 (e-PCR), detects polymorphism
- UniSTS:17270

NoName (e-PCR)
- UniSTS:488054

RH102827 (e-PCR)
- UniSTS:97161

D7S820 (e-PCR), detects polymorphism
- UniSTS:74895

D7S495 (e-PCR), detects polymorphism
- UniSTS:73365

D7S2564 (e-PCR)
- UniSTS:45755

D7S640 (e-PCR), detects polymorphism
- UniSTS:57536

D7S2204 (e-PCR)
- UniSTS:65492

D7S2527 (e-PCR)
- UniSTS:49629

D7S1813 (e-PCR), detects polymorphism
- UniSTS:5109

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in dopaminergic neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in embryonic brain development	IEA Inferred from Electronic Annotation more info
involved_in hindbrain development	IEA Inferred from Electronic Annotation more info
involved_in midbrain development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in neuron development	IEA Inferred from Electronic Annotation more info
involved_in neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in fibrillar center	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: homeobox protein engrailed-2

Names: engrailed homolog 2; engrailed-2; homeobox protein en-2; hu-En-2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.