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6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ERFL
ETS repressor factor like
Chromosome 19 · 19q13.2
NCBI Gene: 390937Ensembl: ENSG00000268041.3HGNC: HGNC:53894UniProt: A0A1W2PQ73
2PubMed Papers
7Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of transcription by RNA polymerase IIcell differentiationnucleusDNA-binding transcription factor activity, RNA polymerase II-specificHerniametabolic syndromestricturedementia
✦AI Summary

ERFL (ETS repressor factor like) is a DNA-binding transcription factor located on chromosome 19 that functions as an RNA polymerase II-specific regulator of gene transcription in the nucleus. Based on GO annotations, ERFL exhibits DNA-binding transcription factor activity and participates in transcriptional regulation and cell differentiation processes through RNA polymerase II-dependent mechanisms. As a member of the ETS repressor factor family, ERFL likely functions to modulate gene expression by binding DNA elements and controlling transcriptional output in response to cellular signals. The protein's role in cell differentiation suggests involvement in developmental processes and cellular fate determination. However, the provided PubMed abstracts do not contain direct information about ERFL's specific molecular mechanisms, disease associations, or clinical significance. The abstracts discuss unrelated topics including MTHFR mutations in pregnancy loss, translation termination factors (eRF3b), E-rosette forming lymphocytes in immunological assays, and immune dysfunction in various conditions—none of which pertain to ERFL gene function. To provide comprehensive information on ERFL's disease relevance and clinical applications, additional literature specifically investigating this gene would be required.

Sources cited
1
ERFL functions as an ETS repressor factor with transcriptional regulatory activity—supported only by gene name and GO annotations, not by provided PubMed abstracts
PMID: No supporting abstracts
⚠Limited data available — This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsⓘ7
HerniaOpen Targets
0.09Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
strictureOpen Targets
0.06Suggestive
dementiaOpen Targets
0.02Suggestive
Abnormality of the gastrointestinal tractOpen Targets
0.02Suggestive
poisoningOpen Targets
0.02Suggestive
response to antibioticOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ANXA13Shared pathway100%ELF1Shared pathway100%ELF2Shared pathway100%ELF5Shared pathway100%ELK3Shared pathway100%ELK4Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
29%
Brain
24%
Lung
21%
Liver
5%
Heart
0%
Gene Interaction Network
Click a node to explore
ERFLANXA13ELF1ELF2ELF5ELK3ELK4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt A0A1W2PQ73
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.60LoF Tolerant
pLIⓘ
0.81Intermediate
Observed/Expected LoF0.33 [0.20–0.60]
RankingsWhere ERFL stands among ~20K protein-coding genes
  • #19,117of 20,598
    Most Researched2
  • #4,154of 17,882
    Most Constrained (LOEUF)0.60 · top quartile
Genes detectedERFL
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
[Genetic variant C677T in the MTHFR in women with recurrent early fetal loss].
PMID: 17974190
Akush Ginekol (Sofiia) · 2007
1.00
2
[Identification of a novel termination release factor eRF3b expressing the eRF3 activity in vitro and in vivo].
PMID: 11524954
Mol Biol (Mosk) · 2001
0.83
3
Stability of peripheral blood lymphocyte count and E-rosette forming lymphocytes in healthy adults.
PMID: 437827
Immunol Commun · 1979
0.67
4
[Status of local and general immunity in patients with multiple sclerosis].
PMID: 1647617
Zh Nevropatol Psikhiatr Im S S Korsakova · 1991
0.50
5
[Early and total E-rosette-forming lymphocytes in furunculosis patients].
PMID: 3716689
Zh Mikrobiol Epidemiol Immunobiol · 1986
0.33