ELF5

ELF5
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1WWX
Identifiers
Aliases	ELF5, ESE2, E74 like ETS transcription factor 5
External IDs	OMIM: 605169; MGI: 1335079; HomoloGene: 7702; GeneCards: ELF5; OMA:ELF5 - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	34,525,193 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	103,281,334 bp
RNA expression pattern
	Top expressed in
	parotid gland; ; amniotic fluid; ; seminal vesicula; ; epithelium of lactiferous gland; ; lactiferous duct; ; minor salivary glands; ; olfactory zone of nasal mucosa; ; mucosa of paranasal sinus; ; buccal mucosa cell; ; palpebral conjunctiva;
	Top expressed in
	seminal vesicula; ; parotid gland; ; lactiferous gland; ; olfactory epithelium; ; left lung lobe; ; submandibular gland; ; lacrimal gland; ; medullary collecting duct; ; esophagus; ; lip;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	DNA-binding transcription activator activity, RNA polymerase II-specific; DNA binding; DNA-binding transcription factor activity; sequence-specific DNA binding; RNA polymerase II transcription regulatory region sequence-specific DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	cytoplasm; nucleus;
Biological process	regulation of transcription by RNA polymerase II; ectodermal cell fate commitment; negative regulation of cell differentiation; cell differentiation; ectoderm development; cell population proliferation; regulation of transcription, DNA-templated; somatic stem cell population maintenance; transcription, DNA-templated; positive regulation of transcription by RNA polymerase II; mammary gland epithelial cell differentiation; transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
	2001
	13711
	ENSG00000135374
	ENSMUSG00000027186
	Q9UKW6
	Q8VDK3
	NM_198381; NM_001243080; NM_001243081; NM_001422
	NM_001145813; NM_010125
	NP_001230009; NP_001230010; NP_001413; NP_938195
	NP_001139285; NP_034255
	Wikidata
View/Edit Human	View/Edit Mouse

E74-like factor 5 (ets domain transcription factor), is a gene found in both mice and humans.^[5] In humans it is also called ESE2.

Function

The protein encoded by this gene is a member of an epithelium-specific subclass of the ETS transcription factor family. In addition to its role in regulating the later stages of terminal differentiation of keratinocytes, it appears to regulate a number of epithelium-specific genes found in tissues containing glandular epithelium such as salivary gland and prostate. It has very low affinity to DNA due to its negative regulatory domain at the amino terminus. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene.^[5]

Relevance to Disease

A role in breast or prostate cancer is known.^[6] There are preliminary reports that the C allele genetic variant of rs61882275 near chromosome location 11.13 with variable incidence in human populations^[7] is associated with severe COVID-19.^[8] Further investigation by others suggested the association was caused by a tissue-specific effect on ELF5 expression in lung endothelium by this allele which results in a more than 4-fold higher risk of severe COVID-19 in those with SARS-CoV2 infection.^[9]