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)[1] Band 11p13 Start 34,478,791 bp[1] End 34,525,193 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 E2 Start 103,242,033 bp[2] End 103,281,334 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 2001 13711 Ensembl ENSG00000135374 ENSMUSG00000027186 UniProt Q9UKW6 Q8VDK3 RefSeq (mRNA) NM_198381 NM_001243080 NM_001243081 NM_001422 NM_001145813 NM_010125 RefSeq (protein) NP_001230009 NP_001230010 NP_001413 NP_938195 NP_001139285 NP_034255 Location (UCSC) Chr 11: 34.48 – 34.53 Mb Chr 2: 103.24 – 103.28 Mb PubMed search [3] [4]
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]

References

Further reading

External links

• ELF5+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)