CEBPE Chromosome 14
CCAAT enhancer binding protein epsilon
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What This Gene Does
The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Basic leucine zipper proteins|CCAAT/enhancer binding proteins "
Locus Type
gene with protein product
Location
14q11.2
Ensembl
ENSG00000092067
Associated Conditions (7)
Specific granule deficiency
Specific granule deficiency 1
CEBPE-related disorder
Inborn genetic diseases
SPECIFIC GRANULE DEFICIENCY 1
AUTOSOMAL DOMINANT
Pelger-Huet-like anomaly and episodic fever with abdominal pain
Key Variants
RS149444043
Conflicting classifications of pathogenicity
Specific granule deficiency, Specific granule deficiency 1, CEBPE-related disorder
Health Risk
RS762842144
Conflicting classifications of pathogenicity
Specific granule deficiency, Inborn genetic diseases, Specific granule deficiency
Health Risk
RS747524697
Likely pathogenic
Specific granule deficiency 1, SPECIFIC GRANULE DEFICIENCY 1, AUTOSOMAL DOMINANT
Health Risk
RS2140291802
Pathogenic
Specific granule deficiency 1, Specific granule deficiency 1
Health Risk
RS2140292116
Pathogenic
Specific granule deficiency 1, Specific granule deficiency 1
Health Risk
RS2140292187
Pathogenic
Specific granule deficiency, Specific granule deficiency
Health Risk
RS2140292375
Pathogenic
Specific granule deficiency, Specific granule deficiency
Health Risk
RS2501817429
Pathogenic
Specific granule deficiency 1, Specific granule deficiency 1
Health Risk
RS2501817698
Pathogenic
Specific granule deficiency 1, Specific granule deficiency 1
Health Risk
RS2501817724
Pathogenic
Pelger-Huet-like anomaly and episodic fever with abdominal pain, Pelger-Huet-like anomaly and episodic fever with abdominal pain
Health Risk
RS760325316
Pathogenic
Specific granule deficiency, Specific granule deficiency
Health Risk
RS775036569
Pathogenic
Specific granule deficiency 1, Specific granule deficiency, Specific granule deficiency 1
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149444043 | Health Risk | Conflicting classifications of pathogenicity | Specific granule deficiency, Specific granule deficiency 1, CEBPE-related disorder |
| RS762842144 | Health Risk | Conflicting classifications of pathogenicity | Specific granule deficiency, Inborn genetic diseases, Specific granule deficiency |
| RS747524697 | Health Risk | Likely pathogenic | Specific granule deficiency 1, SPECIFIC GRANULE DEFICIENCY 1, AUTOSOMAL DOMINANT |
| RS2140291802 | Health Risk | Pathogenic | Specific granule deficiency 1, Specific granule deficiency 1 |
| RS2140292116 | Health Risk | Pathogenic | Specific granule deficiency 1, Specific granule deficiency 1 |
| RS2140292187 | Health Risk | Pathogenic | Specific granule deficiency, Specific granule deficiency |
| RS2140292375 | Health Risk | Pathogenic | Specific granule deficiency, Specific granule deficiency |
| RS2501817429 | Health Risk | Pathogenic | Specific granule deficiency 1, Specific granule deficiency 1 |
| RS2501817698 | Health Risk | Pathogenic | Specific granule deficiency 1, Specific granule deficiency 1 |
| RS2501817724 | Health Risk | Pathogenic | Pelger-Huet-like anomaly and episodic fever with abdominal pain, Pelger-Huet-like anomaly and episodic fever with abdominal pain |
| RS760325316 | Health Risk | Pathogenic | Specific granule deficiency, Specific granule deficiency |
| RS775036569 | Health Risk | Pathogenic | Specific granule deficiency 1, Specific granule deficiency, Specific granule deficiency 1 |
| RS1396196056 | Health Risk | Pathogenic/Likely pathogenic | Specific granule deficiency, Specific granule deficiency |