Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1053
Gene name	CCAAT enhancer binding protein epsilon
Gene symbol	CEBPE
Synonyms (NCBI Gene)	C/EBP-epsilonCRP1IMD108SGD1c/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

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

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

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Transcription factor	Regulation	Reference
STAT1	Activation	16918696

Show/Hide all (33)

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

MIM	HGNC	e!Ensembl
600749	1836	ENSG00000092067

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

Interactions

View interactions

	KEGG
	Transcriptional misregulation in cancer Acute myeloid leukemia

203

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Pelger-Huet-like anomaly and episodic fever with abdominal pain	Pathogenic	rs2501817724	RCV002284158
Specific granule deficiency	Likely pathogenic; Pathogenic	rs1396196056, rs2140292375, rs2140292187, rs775036569, rs760325316	RCV002541178 RCV001972675 RCV002002563 RCV003774939 RCV002233999
Specific granule deficiency 1	Pathogenic; Likely pathogenic	rs2501817429, rs775036569, rs2501817698, rs2140292116, rs2140291802, rs747524697	RCV002284160 RCV002284161 RCV002284162 RCV000009403 RCV000009404 RCV001262447
SPECIFIC GRANULE DEFICIENCY 1, AUTOSOMAL DOMINANT	Likely pathogenic	rs747524697	RCV002285023

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs147453535	RCV005914320
CEBPE-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs201106129, rs1301261529, rs367795312, rs2501820761, rs562273588, rs199734343, rs55722931, rs146580935, rs141903485, rs143753215, rs149444043, rs746375669	RCV004749700 RCV003402051 RCV003895779 RCV003899351 RCV003958900 RCV003983553 RCV003935423 RCV004748875 RCV003918019 RCV003936076 RCV003424445 RCV003940556
Gastric cancer	Benign	rs147453535	RCV005914323
Malignant tumor of esophagus	Benign	rs147453535	RCV005914321
Sarcoma	Benign	rs147453535	RCV005914322
Uterine carcinosarcoma	Benign	rs147453535	RCV005914324

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Disease Resistance	Associate	29977016
Hereditary Autoinflammatory Diseases	Associate	31201888
Immunologic Deficiency Syndromes	Associate	31201888
Infections	Associate	25761407
Leukemia	Associate	10330422, 34597364
Leukemia Biphenotypic Acute	Associate	29977016
Leukemia Myeloid	Associate	10068679, 11313242
Leukemia Myeloid Acute	Associate	21836612, 31164135, 9326225
Leukemia Promyelocytic Acute	Associate	10068679, 10330422, 25514379, 9326225
Neoplasms	Associate	26575185
Neutrophil Chemotactic Response Abnormal	Associate	26019275
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	19684604, 20042726, 25761407, 27644650
Precursor Cell Lymphoblastic Leukemia Lymphoma	Stimulate	19684604
Specific Granule Deficiency	Associate	11313242, 17244686, 26019275, 29651288, 31201888

CEBPE (CCAAT enhancer binding protein epsilon)