EN2
Homeobox protein engrailed-2
Also known as: HME2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P19622
- Gene
- EN2
- Ensembl
- ENSG00000164778
- Chromosome
- 7
- Canonical length
- 333 aa
- Protein class
- Disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Nucleoli,Nucleoli fibrillar center
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
333 residues, UniProt reviewed canonical sequence.
>P19622|EN2
1 MEENDPKPGE AAAAVEGQRQ PESSPGGGSG GGGGSSPGEA DTGRRRALML PAVLQAPGNH
61 QHPHRITNFF IDNILRPEFG RRKDAGTCCA GAGGGRGGGA GGEGGASGAE GGGGAGGSEQ
121 LLGSGSREPR QNPPCAPGAG GPLPAAGSDS PGDGEGGSKT LSLHGGAKKG GDPGGPLDGS
181 LKARGLGGGD LSVSSDSDSS QAGANLGAQP MLWPAWVYCT RYSDRPSSGP RSRKPKKKNP
241 NKEDKRPRTA FTAEQLQRLK AEFQTNRYLT EQRRQSLAQE LSLNESQIKI WFQNKRAKIK
301 KATGNKNTLA VHLMAQGLYN HSTTAKEGKS DSELocalizationUniProt · AlphaFold · HPA
Whether an antibody against EN2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.65
- Highest tissue expression
- 35 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 35 nTPM
- midbrain: 1.7 nTPM
- spinal cord: 0.9 nTPM
- testis: 0.8 nTPM
- ovary: 0.6 nTPM
- parathyroid gland: 0.4 nTPM
Single-cell type
- epididymal efferent duct absorptive cells: 24 nCPM
- brain excitatory neurons: 12 nCPM
- endometrial glandular cells: 10 nCPM
- epididymal efferent duct ciliated cells: 10 nCPM
- endometrial luminal cells: 7.4 nCPM
- bergmann glia: 6.8 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 39 nTPM
- midbrain: 17 nTPM
- pons: 4.8 nTPM
- white matter: 3.9 nTPM
- thalamus: 1.7 nTPM
- cerebral cortex: 1.3 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.63
- gnomAD pLI
- 0.63
- gnomAD missense Z
- 1.08
- DepMap mean gene effect
- 0.07
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- central nervous system neuron differentiation
- dopaminergic neuron differentiation
- embryonic brain development
- hindbrain development
- midbrain development
- negative regulation of neuron apoptotic process
- negative regulation of transcription by RNA polymerase II
- neuron development
- neuron differentiation
- positive regulation of transcription by RNA polymerase II
- regulation of transcription by RNA polymerase II
Molecular functions
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II-specific DNA-binding transcription factor binding
- sequence-specific double-stranded DNA binding
- transcription corepressor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads EN2 as an antibody target. Whether an autoantibody or antibody against EN2 could matter depends on whether native EN2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
EN2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label EN2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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