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ELF5

From Wikipedia, the free encyclopedia
ELF5
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesELF5, ESE2, E74 like ETS transcription factor 5
External IDsOMIM: 605169; MGI: 1335079; HomoloGene: 7702; GeneCards: ELF5; OMA:ELF5 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 2: 103.24 – 103.28 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

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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

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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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000135374Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027186Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: ELF5 E74-like factor 5 (ets domain transcription factor)".
  6. ^ Piggin CL, Roden DL, Gallego-Ortega D, Lee HJ, Oakes SR, Ormandy CJ (7 January 2016). "ELF5 isoform expression is tissue-specific and significantly altered in cancer". Breast Cancer Research. 18 (1). 4. doi:10.1186/s13058-015-0666-0. PMC 4704400. PMID 26738740.
  7. ^ "dbSNP Short Genetic Variations: rs61882275". Retrieved January 21, 2022.
  8. ^ Kousathanas A, et al. (8 September 2021). "Whole genome sequencing identifies multiple loci for critical illness caused by COVID-19". medRxiv 10.1101/2021.09.02.21262965.
  9. ^ Pietzner M, et al. (19 January 2022). "ELF5 is a respiratory epithelial cell-specific risk gene for severe COVID-19". medRxiv 10.1101/2022.01.17.22269283.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.