CEBPE CCAAT enhancer binding protein epsilon [Homo sapiens (human)] - Gene

Summary

Official Symbol: CEBPEprovided by HGNC
Official Full Name: CCAAT enhancer binding protein epsilonprovided by HGNC
Primary source: HGNC:HGNC:1836
See related: Ensembl:ENSG00000092067 MIM:600749; AllianceGenome:HGNC:1836
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CRP1; SGD1; IMD108; C/EBP-epsilon; c/EBP epsilon
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 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]
Expression: Biased expression in bone marrow (RPKM 14.1) and small intestine (RPKM 1.0) See more
Orthologs: mouse all
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Genomic context

Location:: 14q11.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (23117306..23119255, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (17317962..17319911, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (23586515..23588464, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ARID5B, IKZF1, GATA3, CEBPE, and CDKN2A germline polymorphisms and predisposition to childhood acute lymphoblastic leukemia.
Title: ARID5B, IKZF1, GATA3, CEBPE, and CDKN2A germline polymorphisms and predisposition to childhood acute lymphoblastic leukemia.
Significance of CEBPE Gene Promoter Polymorphism (Rs2239630 G > A) Assessment in Childhood B-cell Acute Lymphoblastic Leukemia.
Title: Significance of CEBPE Gene Promoter Polymorphism (Rs2239630 G > A ) Assessment in Childhood B-cell Acute Lymphoblastic Leukemia.
Identification and genomic analysis of pedigrees with exceptional longevity identifies candidate rare variants.
Title: Identification and genomic analysis of pedigrees with exceptional longevity identifies candidate rare variants.
The CEBPE rs2239633 genetic polymorphism on susceptibility to childhood acute lymphoblastic leukemia: an updated meta-analysis.
Title: The CEBPE rs2239633 genetic polymorphism on susceptibility to childhood acute lymphoblastic leukemia: an updated meta-analysis.
Loss of myeloid-specific lamin A/C drives lung metastasis through Gfi-1 and C/EBPepsilon-mediated granulocytic differentiation.
Title: Loss of myeloid-specific lamin A/C drives lung metastasis through Gfi-1 and C/EBPε-mediated granulocytic differentiation.
A single amino acid deletion of either R247 (DeltaR) or S248 (DeltaS) was sufficient for the loss of C/EBP-epsilon transcriptional activity, while an amino acid substitution at S248 to alanine in C/EBP-epsilon (SA) had comparable transcriptional activity with the wild-type C/EBP-epsilon (WT). An acetylation mimic form of C/EBP-epsilon DeltaRS does not have transcriptional activity. C/EBP-epsilon DeltaRS interacts with...
Title: C/EBPε ΔRS derived from a neutrophil-specific granule deficiency patient interacts with HDAC1 and its dysfunction is restored by trichostatin A.
CEBPE expression was an independent prognostic factor for Acute Myeloid Leukemia survival, relapse and allogeneic transplantation, which will provide useful information for outcome prediction and therapeutic decisions.
Title: CEBPE expression is an independent prognostic factor for acute myeloid leukemia.
this study shows that gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy
Title: Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy.
Card10 is expressed in granulocytes and is a direct target of CEBPE with functions extending to myeloid differentiation.
Title: CARD10, a CEBPE target involved in granulocytic differentiation.
CEBPE promoter polymorphism is associated with B-cell acute lymphoblastic leukemia.
Title: Genetic predisposition to B-cell acute lymphoblastic leukemia at 14q11.2 is mediated by a CEBPE promoter polymorphism.

Submit: New GeneRIF Correction See all GeneRIFs (55)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Pelger-Huet-like anomaly and episodic fever with abdominal pain MedGen: C1850054 OMIM: 260570 GeneReviews: Not available	Compare labs
Specific granule deficiency 1 MedGen: C4551556 OMIM: 245480 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif upregulates the expression of CCAAT/enhancer binding protein epsilon subunit (CEBPE) in Vif-expression T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14S990 (e-PCR), detects polymorphism
- UniSTS:57093

RH75880 (e-PCR)
- UniSTS:87918

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in cellular response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in defense response	TAS Traceable Author Statement more info	PubMed
involved_in granulocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in integrated stress response signaling	NAS Non-traceable Author Statement more info	PubMed
involved_in macrophage differentiation	IEA Inferred from Electronic Annotation more info
involved_in myeloid cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in phagocytosis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription regulator complex	IPI Inferred from Physical Interaction more info	PubMed
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: CCAAT/enhancer-binding protein epsilon

Names: CCAAT/enhancer binding protein (C/EBP), epsilon

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009617.1 RefSeqGene

Range

4655..6960

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_45

mRNA and Protein(s)

NM_001805.4 → NP_001796.2 CCAAT/enhancer-binding protein epsilon

See identical proteins and their annotated locations for NP_001796.2

Status: REVIEWED

Source sequence(s)

AL117258, BC035797

Consensus CDS

CCDS9589.1

UniProtKB/Swiss-Prot

Q15744, Q15745, Q8IYI2, Q99803

Related

ENSP00000206513.5, ENST00000206513.6

Conserved Domains (2) summary

PHA03247
Location:62 → 192

PHA03247; large tegument protein UL36; Provisional

cd14715
Location:202 → 262

bZIP_CEBPE; Basic leucine zipper (bZIP) domain of CCAAT/enhancer-binding protein epsilon (CEBPE): a DNA-binding and dimerization domain