ELF4 Chromosome X
E74 like ETS transcription factor 4
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What This Gene Does
The protein encoded by this gene is a transcriptional activator that binds and activates the promoters of the CSF2, IL3, IL8, and PRF1 genes. The encoded protein is involved in natural killer cell development and function, innate immunity, and induction of cell cycle arrest in naive CD8+ cells. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010]
Gene Info
Gene Group
ETS transcription factor family
Locus Type
gene with protein product
Location
Xq26.1
Ensembl
ENSG00000102034
Associated Conditions (6)
See cases
Acute myeloid leukemia
Autoinflammatory syndrome
familial
X-linked
Behcet-like 2
Key Variants
RS201228337
Conflicting classifications of pathogenicity
Health Risk
RS1569402390
Likely pathogenic
Health Risk
RS137884184
Pathogenic
See cases, Acute myeloid leukemia, See cases
Health Risk
RS2124612467
Pathogenic
Autoinflammatory syndrome, familial, X-linked
Health Risk
RS2124614205
Pathogenic
Autoinflammatory syndrome, familial, X-linked
Health Risk
RS2124614270
Pathogenic
Autoinflammatory syndrome, familial, X-linked
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201228337 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1569402390 | Health Risk | Likely pathogenic | — |
| RS137884184 | Health Risk | Pathogenic | See cases, Acute myeloid leukemia, See cases |
| RS2124612467 | Health Risk | Pathogenic | Autoinflammatory syndrome, familial, X-linked |
| RS2124614205 | Health Risk | Pathogenic | Autoinflammatory syndrome, familial, X-linked |
| RS2124614270 | Health Risk | Pathogenic | Autoinflammatory syndrome, familial, X-linked |