En2 engrailed 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: En2provided by MGI
Official Full Name: engrailed 2provided by MGI
Primary source: MGI:MGI:95390
See related: Ensembl:ENSMUSG00000039095 AllianceGenome:MGI:95390
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: En-2; mo-En-2
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in embryonic brain development and negative regulation of neuron apoptotic process. Acts upstream of or within nervous system development and positive regulation of transcription by RNA polymerase II. Predicted to be located in fibrillar center and nucleoplasm. Predicted to be active in nucleus. Is expressed in several structures, including brain; embryo ectoderm; genitourinary system; gut; and limb bud. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in autistic disorder. Orthologous to human EN2 (engrailed homeobox 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in cerebellum adult (RPKM 21.8), CNS E11.5 (RPKM 13.0) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 B1; 5 13.94 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (28370694..28377195)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (28165696..28172190)

Chromosome 5 - NC_000071.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Alterations of Perineuronal Net Expression and Abnormal Social Behavior and Whisker-dependent Texture Discrimination in Mice Lacking the Autism Candidate Gene Engrailed 2.
Title: Alterations of Perineuronal Net Expression and Abnormal Social Behavior and Whisker-dependent Texture Discrimination in Mice Lacking the Autism Candidate Gene Engrailed 2.
Glial cells are affected more than interneurons by the loss of Engrailed 2 gene in the mouse cerebellum.
Title: Glial cells are affected more than interneurons by the loss of Engrailed 2 gene in the mouse cerebellum.
Protein kinase C beta relieves autism-like behavior in EN2 knockout mice via upregulation of the FTO/PGC-1alpha/UCP1 axis.
Title: Protein kinase C beta relieves autism-like behavior in EN2 knockout mice via upregulation of the FTO/PGC-1α/UCP1 axis.
Immune dysfunction in the cerebellum of mice lacking the autism candidate gene Engrailed 2.
Title: Immune dysfunction in the cerebellum of mice lacking the autism candidate gene Engrailed 2.
Conditional loss of Engrailed1/2 in Atoh1-derived excitatory cerebellar nuclear neurons impairs eupneic respiration in mice.
Title: Conditional loss of Engrailed1/2 in Atoh1-derived excitatory cerebellar nuclear neurons impairs eupneic respiration in mice.
Engrailed 2 deficiency and chronic stress alter avoidance and motivation behaviors.
Title: Engrailed 2 deficiency and chronic stress alter avoidance and motivation behaviors.
Morphological alterations of the reticular thalamic nucleus in Engrailed-2 knockout mice.
Title: Morphological alterations of the reticular thalamic nucleus in Engrailed-2 knockout mice.
Altered Expression of GABAergic Markers in the Forebrain of Young and Adult Engrailed-2 Knockout Mice.
Title: Altered Expression of GABAergic Markers in the Forebrain of Young and Adult Engrailed-2 Knockout Mice.
En2 is expressed in all three nuclear layers of the adult retina. When compared to age-matched En2(+/+) controls, En2(-/-) adult retinas showed a significant decrease in the number of calbindin(+) horizontal cells, and a significant increase in calbindin(+) amacrine/ganglion cells. In addition, En2(-/-) adult mice showed a significant reduction of photoreceptor (rhodopsin) and bipolar cell (Pcp2, PKCalpha) markers.
Title: Retinal defects in mice lacking the autism-associated gene Engrailed-2.
En2 (-/-) mice showed reduced functional connectivity in the somatosensory cortex, which was paralleled by fear behavior, reduced activation of somatosensory cortex, and increased activation of the basolateral amygdala in response to repeated whisker stimulation.
Title: Aberrant Somatosensory Processing and Connectivity in Mice Lacking Engrailed-2.

Submit: New GeneRIF Correction See all GeneRIFs (36)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (10) 1 citation

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

BB131122 (e-PCR)
- UniSTS:185616

En2 (e-PCR), detects polymorphism
- UniSTS:166213

UniSTS:238161 (e-PCR)
- UniSTS:238161

En2 (e-PCR), detects polymorphism
- UniSTS:238161

L12705 (e-PCR)
- UniSTS:159348

En2 (e-PCR), detects polymorphism
- UniSTS:142988

En2 (e-PCR), detects polymorphism
- UniSTS:142989

EN2 (e-PCR), detects polymorphism
- UniSTS:503704

Gene Ontology Provided by MGI

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	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within dopaminergic neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in dopaminergic neuron differentiation	TAS Traceable Author Statement more info	PubMed
involved_in embryonic brain development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within hindbrain development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within midbrain development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of neuron apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuron development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in fibrillar center	IEA Inferred from Electronic Annotation more info
located_in fibrillar center	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology 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: homeobox protein 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.

mRNA and Protein(s)

NM_001395060.1 → NP_001381989.1 homeobox protein engrailed-2 isoform 2

Status: VALIDATED

Source sequence(s)

AC129184
NM_010134.4 → NP_034264.1 homeobox protein engrailed-2 isoform 1

See identical proteins and their annotated locations for NP_034264.1

Status: VALIDATED

Source sequence(s)

AI844870, AK157766

Consensus CDS

CCDS19143.1

UniProtKB/Swiss-Prot

P09066

UniProtKB/TrEMBL

Q3TZM2

Related

ENSMUSP00000036761.8, ENSMUST00000036177.9

Conserved Domains (2) summary

pfam00046
Location:238 → 291

Homeobox; Homeobox domain

pfam10525
Location:293 → 322

Engrail_1_C_sig; Engrailed homeobox C-terminal signature domain