CEBPE (CCAAT enhancer binding protein epsilon)

Gene

• Entrez ID: 1053
• Gene name: CCAAT enhancer binding protein epsilon
• Gene symbol: CEBPE
• Synonyms: C/EBP-epsilon, CRP1, IMD108, SGD1, c/EBP epsilon
• Chromosome: 14
• Chromosome location: 14q11.2
• Summary: 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 different

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs760325316	G>A	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022958	hsa-miR-124-3p	Microarray	18668037

Transcription factors

Transcription factor	Regulation	Reference
STAT1	Activation	16918696

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	10233885
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	10233885
GO:0005515	Function	Protein binding	IPI	26019275
GO:0005634	Component	Nucleus	IDA	11313242
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006909	Process	Phagocytosis	IEA
GO:0006952	Process	Defense response	TAS	8661101
GO:0030099	Process	Myeloid cell differentiation	IBA	21873635
GO:0030225	Process	Macrophage differentiation	IEA
GO:0030851	Process	Granulocyte differentiation	IMP	10359588
GO:0042742	Process	Defense response to bacterium	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	10233885
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 600749
• HGNC: 1836
• e!Ensembl: ENSG00000092067

Protein

• UniProt ID: Q15744
• Protein name: CCAAT/enhancer-binding protein epsilon (C/EBP epsilon)
• Protein function: Transcriptional activator (PubMed:26019275). C/EBP are DNA-binding proteins that recognize two different motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers. Required for the promyelocyte-m
• PDB: 3T92
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07716	bZIP_2	203 → 256	Basic region leucine zipper	Coiled-coil

• Sequence:

  MSHGTYYECEPRGGQQPLEFSGGRAGPGELGDMCEHEASIDLSAYIESGEEQLLSDLFAV
  KPAPEARGLKGPGTPAFPHYLPPDPRPFAYPPHTFGPDRKALGPGIYSSPGSYDPRAVAV
  KEEPRGPEGSRAASRGSYNPLQYQVAHCGQTAMHLPPTLAAPGQPLRVLKAPLATAAPPC
  SPLLKAPSPAGPLHKGKKAVNKDSLEYRLRRERNNIAVRKSRDKAKRRILETQQKVLEYM
  AENERLRSRVEQLTQELDTLRNLFRQIPEAANLIKGVGGCS

• Sequence length: 281

Pathways

KEGG:

Transcriptional misregulation in cancer
Acute myeloid leukemia

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Lymphoblastic leukemia	Childhood Acute Lymphoblastic Leukemia, L2 Acute Lymphoblastic Leukemia, Precursor Cell Lymphoblastic Leukemia Lymphoma	rs387906351, rs104894562, rs398122513, rs398122840, rs398123063, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591	19684604
Specific granule deficiency	Specific granule deficiency, SPECIFIC GRANULE DEFICIENCY 2, SPECIFIC GRANULE DEFICIENCY 1	rs2140292116, rs2140291802, rs1057518731, rs1555580263, rs1057518733, rs760325316, rs112986541	28369034, 29651288, 10359588, 10359588, 10359588, 29651288

Unknown
Disease name	Disease term	dbSNP ID	References
Autoinflammation-immunodeficiency-neutrophil dysfunction syndrome	CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
Promyelocytic leukemia	Acute Promyelocytic Leukemia		16788101