CEBPA Chromosome 19
CCAAT enhancer binding protein alpha
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What This Gene Does
This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. Mutation of this gene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUG (GUG) and AUG start codons results in protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the GUG and the first AUG start codons. [provided by RefSeq, Dec 2013]
Gene Info
Gene Group
"Basic leucine zipper proteins|CCAAT/enhancer binding proteins "
Locus Type
gene with protein product
Location
19q13.11
Ensembl
ENSG00000245848
Associated Conditions (5)
Acute myeloid leukemia
Inborn genetic diseases
Hereditary cancer-predisposing syndrome
CEBPA-related disorder
Autosomal dominant familial acute myeloid leukemia
Key Variants
RS1007915253
Conflicting classifications of pathogenicity
Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia
Health Risk
RS1013724730
Conflicting classifications of pathogenicity
Acute myeloid leukemia, Hereditary cancer-predisposing syndrome, CEBPA-related disorder
Health Risk
RS1027280601
Conflicting classifications of pathogenicity
Health Risk
RS1033194020
Conflicting classifications of pathogenicity
Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia
Health Risk
RS1055210725
Conflicting classifications of pathogenicity
Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia
Health Risk
RS1060502119
Conflicting classifications of pathogenicity
Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia
Health Risk
RS1060502123
Conflicting classifications of pathogenicity
Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia
Health Risk
RS1060502124
Conflicting classifications of pathogenicity
Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia
Health Risk
RS1060502125
Conflicting classifications of pathogenicity
Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia
Health Risk
RS1060504475
Conflicting classifications of pathogenicity
Acute myeloid leukemia, Hereditary cancer-predisposing syndrome, Inborn genetic diseases
Health Risk
RS1162371435
Conflicting classifications of pathogenicity
Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia
Health Risk
RS1163957359
Conflicting classifications of pathogenicity
Acute myeloid leukemia, Hereditary cancer-predisposing syndrome, Inborn genetic diseases
Health Risk
All Variants (148)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1967187823 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS1967191835 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS1967195766 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS1967199149 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS201061067 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS2145261406 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS2145261721 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS2145261985 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS2145262207 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS2145264351 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS2513329489 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS372931505 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Hereditary cancer-predisposing syndrome, Inborn genetic diseases |
| RS375833261 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, CEBPA-related disorder |
| RS377329266 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS530569305 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Autosomal dominant familial acute myeloid leukemia, Inborn genetic diseases |
| RS535980233 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Hereditary cancer-predisposing syndrome, CEBPA-related disorder |
| RS543441756 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS587778192 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS746430067 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, CEBPA-related disorder, Inborn genetic diseases |
| RS746522150 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS746895795 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS747606716 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS750852645 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS752254340 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Hereditary cancer-predisposing syndrome, CEBPA-related disorder |
| RS755311871 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS758092761 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS760372994 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS770636941 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS775099224 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS780345232 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Hereditary cancer-predisposing syndrome, Inborn genetic diseases |
| RS867113214 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Hereditary cancer-predisposing syndrome, Inborn genetic diseases |
| RS868242502 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS878854700 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS878854703 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Hereditary cancer-predisposing syndrome, Inborn genetic diseases |
| RS919904139 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, CEBPA-related disorder |
| RS921077083 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Hereditary cancer-predisposing syndrome, Inborn genetic diseases |
| RS925688689 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Hereditary cancer-predisposing syndrome, CEBPA-related disorder |
| RS949548349 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS986682061 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS996435066 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS996591962 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS998501847 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Inborn genetic diseases, Acute myeloid leukemia |
| RS1248876880 | Health Risk | Likely pathogenic | Acute myeloid leukemia, Acute myeloid leukemia |
| RS1600021258 | Health Risk | Likely pathogenic | Acute myeloid leukemia, Acute myeloid leukemia |
| RS1967162270 | Health Risk | Likely pathogenic | — |
| RS1967165458 | Health Risk | Likely pathogenic | — |
| RS1967171093 | Health Risk | Likely pathogenic | — |
| RS1967174141 | Health Risk | Likely pathogenic | — |
| RS1967192886 | Health Risk | Likely pathogenic | Acute myeloid leukemia, Acute myeloid leukemia |
| RS1967194538 | Health Risk | Likely pathogenic | — |