EMX2
Homeobox protein EMX2
Also known as: EMX2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q04743
- Gene
- EMX2
- Ensembl
- ENSG00000170370
- Chromosome
- 10
- Canonical length
- 252 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
This gene encodes a homeobox-containing transcription factor that is the homolog to the 'empty spiracles' gene in Drosophila. Research on this gene in humans has focused on its expression in three tissues: dorsal telencephalon, olfactory neuroepithelium, and urogenetial system. It is expressed in the dorsal telencephalon during development in a low rostral-lateral to high caudal-medial gradient and is proposed to pattern the neocortex into defined functional areas. It is also expressed in embryonic and adult olfactory neuroepithelia where it complexes with eukaryotic translation initiation factor 4E (eIF4E) and possibly regulates mRNA transport or translation. In the developing urogenital system, it is expressed in epithelial tissues and is negatively regulated by HOXA10. Alternative splicing results in multiple transcript variants encoding distinct proteins.[provided by RefSeq, Sep 2009]
Canonical amino-acid sequenceUniProt
252 residues, UniProt reviewed canonical sequence.
>Q04743|EMX2
1 MFQPAPKRCF TIESLVAKDS PLPASRSEDP IRPAALSYAN SSPINPFLNG FHSAAAAAAG
61 RGVYSNPDLV FAEAVSHPPN PAVPVHPVPP PHALAAHPLP SSHSPHPLFA SQQRDPSTFY
121 PWLIHRYRYL GHRFQGNDTS PESFLLHNAL ARKPKRIRTA FSPSQLLRLE HAFEKNHYVV
181 GAERKQLAHS LSLTETQVKV WFQNRRTKFK RQKLEEEGSD SQQKKKGTHH INRWRIATKQ
241 ASPEEIDVTS DDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against EMX2 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)
- 0.61
- Highest tissue expression
- 99 nTPM
Expression across tissuesHPA
Tissue
- epididymis: 99 nTPM
- endometrium: 80 nTPM
- cervix: 64 nTPM
- fallopian tube: 54 nTPM
- seminal vesicle: 50 nTPM
- smooth muscle: 42 nTPM
Single-cell type
- epididymal efferent duct absorptive cells: 477 nCPM
- granulosa cells: 459 nCPM
- epididymal principal cells: 455 nCPM
- decidual stromal cells: 219 nCPM
- epididymal efferent duct ciliated cells: 180 nCPM
- epididymal basal cells: 169 nCPM
Immune cell
- basophil: 0.5 nTPM
- eosinophil: 0.1 nTPM
- MAIT T-cell: 0.1 nTPM
- naive B-cell: 0.1 nTPM
- neutrophil: 0.1 nTPM
- NK-cell: 0.1 nTPM
Brain region
- cerebral cortex: 34 nTPM
- hippocampal formation: 30 nTPM
- basal ganglia: 27 nTPM
- amygdala: 22 nTPM
- white matter: 21 nTPM
- thalamus: 15 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about EMX2.
Disease | AllUniProt
Conditions EMX2 is implicated in, by any mechanism.
- Schizencephaly (SCHZC) MIM:269160
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 58 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Schizencephaly
- Congenital hypogonadotropic hypogonadism
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)
- 0.32
- gnomAD pLI
- 0.95
- gnomAD missense Z
- 1.57
- DepMap mean gene effect
- 0
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- anterior/posterior pattern specification
- brain development
- cell proliferation in forebrain
- central nervous system development
- cerebral cortex regionalization
- dentate gyrus development
- forebrain cell migration
- neuron differentiation
- neuron migration
- regulation of transcription by RNA polymerase II
- response to xenobiotic stimulus
- stereocilium bundle organization
- ureter morphogenesis
Molecular functions
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads EMX2 as an antibody target. Whether an autoantibody or antibody against EMX2 could matter depends on whether native EMX2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
EMX2 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 EMX2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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