ELF4

Chr Xq26.1

E74 like ETS transcription factor 4

Aliases:: MEF, ELFR
MANE:: ENST00000308167.10

OMIM: 300775 ↗NCBI: 2000 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ELF4 · Q99607

v62025-08-01

Predicted Aligned Error matrix for ELF4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

48.7/ 100

Very low

663 residues

Confidence breakdown

Very high(≥ 90)11%
Confident(70–90)2%
Low(50–70)12%
Very low(< 50)75%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Autoinflammatory disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Primary immunodeficiency or monogenic inflammatory bowel disease
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
COVID-19 research
Unknown

Disease associations (Open Targets)

autoinflammatory syndrome, familial, X-linked, Behcet-like 2
0.69
neurodegenerative disease
0.50
gliomatosis cerebri
0.37
carcinoma of liver and intrahepatic biliary tract
0.37
skin basal cell carcinoma
0.37
breast ductal adenocarcinoma
0.37
short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
0.37
endometrial endometrioid adenocarcinoma
0.37
ovarian endometrioid adenocarcinoma with squamous differentiation
0.37
acute myeloid leukemia
0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

ETS-related transcription factor Elf-4

Transcriptional activator that binds to DNA sequences containing the consensus 5'-WGGA-3'. Transactivates promoters of the hematopoietic growth factor genes CSF2, IL3, IL8, and of the bovine lysozyme gene. Acts synergistically with RUNX1 to transactivate the IL3 promoter (By similarity). Transactivates the PRF1 promoter in natural killer (NK) cells and CD8+ T cells (PubMed:34326534). Plays a role in the development and function of NK and NK T-cells and in innate immunity. Controls the proliferation and homing of CD8+ T-cells via the Kruppel-like factors KLF4 and KLF2 (By similarity). Controls cell senescence in a p53-dependent manner. Can also promote cellular transformation through inhibition of the p16 pathway. Is a transcriptional regulator of inflammation, controlling T-helper 17 (Th17) cells and macrophage inflammatory responses. Required for sustained transcription of anti-inflammatory genes, including IL1RN (PubMed:34326534, PubMed:35266071). Is a negative regulator of pro-inflammatory cytokines expression including IL17A, IL1B, IL6, TNFA and CXCL1 (PubMed:34326534, PubMed:35266071). Down-regulates expression of TREM1, a cell surface receptor involved in the amplification of inflammatory responses (By similarity) (PubMed:34326534, PubMed:35266071)