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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]
CEBPE (CCAAT Enhancer Binding Protein Epsilon) is a Protein Coding gene. Diseases associated with CEBPE include Specific Granule Deficiency 1 and Neutrophil-Specific Granule Deficiency. Among its related pathways are Transcriptional misregulation in cancer and Endometrial cancer. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is CEBPA.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 10233885 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 10233885 |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IDA | 11313242 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Endometrial cancer | ||
2 | Transcriptional misregulation in cancer | ||
3 | IL17 Signaling Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006909 | phagocytosis | IEA | -- |
GO:0006952 | defense response | TAS | 8661101 |
GO:0010628 | positive regulation of gene expression | IEA | -- |
GO:0030099 | myeloid cell differentiation | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CEBPE 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CEBPE 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CEBPE 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cebpe 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cebpe 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CEBPE 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CEBPE 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CEBPE 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cebpe 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cebp1 31 |
|
ManyToMany | |
CU633479.4 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | cebp-2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
640081 | Uncertain Significance: Specific granule deficiency 1 | 23,119,026(-) | C/A | SYNONYMOUS_VARIANT | |
640442 | Uncertain Significance: Specific granule deficiency 1 | 23,119,028(-) | C/T | MISSENSE_VARIANT | |
650956 | Uncertain Significance: Specific granule deficiency 1 | 23,118,688(-) | C/T | MISSENSE_VARIANT | |
657093 | Uncertain Significance: Specific granule deficiency 1 | 23,118,590(-) | C/T | MISSENSE_VARIANT | |
658176 | Uncertain Significance: Specific granule deficiency 1 | 23,117,722(-) | C/G | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
specific granule deficiency 1 |
|
|
neutrophil-specific granule deficiency |
|
|
cebpe-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome |
|
|
childhood b-cell acute lymphoblastic leukemia |
|
|
severe congenital neutropenia |
|
|