CEBPE (CCAAT enhancer binding protein epsilon)

Gene

• Entrez ID: 1053
• Gene name: CCAAT enhancer binding protein epsilon
• Gene symbol: CEBPE
• Synonyms (NCBI Gene): 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
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
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:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	20211142, 23661758, 26019275
GO:0005634	Component	Nucleus	IDA	11313242
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	23661758, 28186491
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	23661758, 28186491
GO:0006909	Process	Phagocytosis	IEA
GO:0006952	Process	Defense response	TAS	8661101
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0030099	Process	Myeloid cell differentiation	IBA
GO:0030099	Process	Myeloid cell differentiation	IEA
GO:0030225	Process	Macrophage differentiation	IEA
GO:0030851	Process	Granulocyte differentiation	IMP	10359588
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:0090575	Component	RNA polymerase II transcription regulator complex	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IPI	23661758, 28186491
GO:0140467	Process	Integrated stress response signaling	NAS	28566324
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

• Tissue specificity: TISSUE SPECIFICITY: Strongest expression occurs in promyelocyte and late-myeloblast-like cell lines. {ECO:0000269|PubMed:9032264}.
• Sequence:

  MSHGTYYECEPRGGQQPLEFSGGRAGPGELGDMCEHEASIDLSAYIESGEEQLLSDLFAV
  KPAPEARGLKGPGTPAFPHYLPPDPRPFAYPPHTFGPDRKALGPGIYSSPGSYDPRAVAV
  KEEPRGPEGSRAASRGSYNPLQYQVAHCGQTAMHLPPTLAAPGQPLRVLKAPLATAAPPC
  SPLLKAPSPAGPLHKGKKAVNKDSLEYRLRRERNNIAVRKSRDKAKRRILETQQKVLEYM
  AENERLRSRVEQLTQELDTLRNLFRQIPEAANLIKGVGGCS

• Sequence length: 281

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Pelger-Huet-like anomaly and episodic fever with abdominal pain	Pathogenic	rs2501817724	RCV002284158	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Specific granule deficiency	Likely pathogenic; Pathogenic	rs1396196056, rs2140292375, rs2140292187, rs775036569, rs760325316	RCV002541178 RCV001972675 RCV002002563 RCV003774939 RCV002233999	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Specific granule deficiency 1	Pathogenic; Likely pathogenic	rs2501817429, rs775036569, rs2501817698, rs2140292116, rs2140291802, rs747524697	RCV002284160 RCV002284161 RCV002284162 RCV000009403 RCV000009404 RCV001262447	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPECIFIC GRANULE DEFICIENCY 1, AUTOSOMAL DOMINANT	Likely pathogenic	rs747524697	RCV002285023	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEBPE-ASSOCIATED AUTOINFLAMMATION, IMMUNODEFICIENCY, NEUTROPHIL DYSFUNCTION SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEBPE-ASSOCIATED AUTOINFLAMMATION-IMMUNODEFICIENCY-NEUTROPHIL DYSFUNCTION SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEBPE-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, PROMYELOCYTIC, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	25938438		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	19027493, 23512250, 23719191, 24564228, 25195121, 25761407, 27184773, 27644650, 28158719, 28768142, 31350265		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	CTD_human_DG	16788101		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	27605212		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23512250, 23719191, 24564228, 25195121, 28768142, 31350265		★☆☆☆☆ Found in Text Mining only
ATRICHIA WITH PAPULAR LESIONS	Atrichia With Papular Lesions	BEFREE	27605212		★☆☆☆☆ Found in Text Mining only
CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome	Autoinflammation-Immunodeficiency-Neutrophil Dysfunction Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	19684604, 22422485, 23512250, 23608171, 23719191, 24564228, 25195121, 27184773, 27644650, 28768142, 31350265		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	19684604		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	28915434		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	31350265		★☆☆☆☆ Found in Text Mining only
L2 Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	19684604		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	10330422, 34597364	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	27184773		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	10068679, 11313242	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	21836612, 31164135, 9326225	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	10068679, 10330422, 25514379, 9326225	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	12393450		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	22349414, 24564228, 31164135, 9393598		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	19027493, 9393598		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31141535		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23608171, 27184773		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	9393598		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	9393598		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	22137487, 29977016		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	19027493, 25761407, 27184773, 27644650, 28158719		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	19684604		★☆☆☆☆ Found in Text Mining only
Specific granule deficiency	Specific Granule Deficiency	ORPHANET_DG	10359588		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Specific Granule Deficiency	Specific granule deficiency	Pubtator	11313242, 17244686, 26019275, 29651288, 31201888	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Specific granule deficiency	Specific Granule Deficiency	BEFREE	11753076, 28322138		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Specific granule deficiency	Specific Granule Deficiency	CTD_human_DG	28369034		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Specific granule deficiency	Specific Granule Deficiency	GENOMICS_ENGLAND_DG	29651288		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Specific granule deficiency	Specific Granule Deficiency	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPECIFIC GRANULE DEFICIENCY 1	Specific Granule Deficiency	ORPHANET_DG	10359588		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPECIFIC GRANULE DEFICIENCY 1	Specific Granule Deficiency	GENOMICS_ENGLAND_DG	29651288		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPECIFIC GRANULE DEFICIENCY 2	Specific Granule Deficiency	ORPHANET_DG	10359588		★☆☆☆☆ Found in Text Mining only