Gene CEBPE - ENSG00000092067 | NCBI Gene ID: 1053

Details for: CEBPE

Gene ID: 1053

Symbol: CEBPE

Ensembl ID: ENSG00000092067

Description: CCAAT enhancer binding protein epsilon

Associated with

Developmental biology
(R-HSA-1266738)
Transcriptional regulation of granulopoiesis
(R-HSA-9616222)
Cellular response to lipopolysaccharide
(GO:0071222)
Chromatin
(GO:0000785)
Defense response
(GO:0006952)
Dna-binding transcription activator activity, rna polymerase ii-specific
(GO:0001228)
Dna-binding transcription factor activity, rna polymerase ii-specific
(GO:0000981)
Dna-templated transcription
(GO:0006351)
Granulocyte differentiation
(GO:0030851)
Identical protein binding
(GO:0042802)
Integrated stress response signaling
(GO:0140467)
Macrophage differentiation
(GO:0030225)
Myeloid cell differentiation
(GO:0030099)
Nucleoplasm
(GO:0005654)
Nucleus
(GO:0005634)
Phagocytosis
(GO:0006909)
Plasma membrane
(GO:0005886)
Positive regulation of gene expression
(GO:0010628)
Positive regulation of transcription by rna polymerase ii
(GO:0045944)
Protein-containing complex binding
(GO:0044877)
Protein binding
(GO:0005515)
Regulation of transcription by rna polymerase ii
(GO:0006357)
Rna polymerase ii cis-regulatory region sequence-specific dna binding
(GO:0000978)
Rna polymerase ii transcription regulator complex
(GO:0090575)
Sequence-specific double-stranded dna binding
(GO:1990837)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: blood vessel endothelial cell (CL0000071)
Fold Change: 2.15
Marker Score: 2166
Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
Fold Change: 1.27
Marker Score: 2625
Cell Name: goblet cell (CL0000160)
Fold Change: 1.16
Marker Score: 7691
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71836
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48061
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.99
Marker Score: 2505
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30409
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.94
Marker Score: 5356
Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
Fold Change: 0.92
Marker Score: 975
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.92
Marker Score: 2742
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 0.88
Marker Score: 1793
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5295
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.86
Marker Score: 655.5
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.81
Marker Score: 12665
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.78
Marker Score: 1268
Cell Name: brush cell (CL0002204)
Fold Change: 0.78
Marker Score: 712
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.77
Marker Score: 401
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.7
Marker Score: 180
Cell Name: pericyte (CL0000669)
Fold Change: 0.66
Marker Score: 385
Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.61
Marker Score: 483
Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 0.57
Marker Score: 1079
Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 0.47
Marker Score: 281
Cell Name: mononuclear cell (CL0000842)
Fold Change: 0.37
Marker Score: 120
Cell Name: late promyelocyte (CL0002151)
Fold Change: 0.37
Marker Score: 92
Cell Name: common myeloid progenitor (CL0000049)
Fold Change: 0.34
Marker Score: 91
Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 0.34
Marker Score: 916
Cell Name: granulocyte monocyte progenitor cell (CL0000557)
Fold Change: 0.34
Marker Score: 213
Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 0.33
Marker Score: 1957
Cell Name: podocyte (CL0000653)
Fold Change: 0.31
Marker Score: 116
Cell Name: parietal epithelial cell (CL1000452)
Fold Change: 0.3
Marker Score: 109.5
Cell Name: renal beta-intercalated cell (CL0002201)
Fold Change: 0.29
Marker Score: 91
Cell Name: renal principal cell (CL0005009)
Fold Change: 0.27
Marker Score: 208
Cell Name: renal alpha-intercalated cell (CL0005011)
Fold Change: 0.26
Marker Score: 139
Cell Name: thymocyte (CL0000893)
Fold Change: 0.25
Marker Score: 264
Cell Name: smooth muscle myoblast (CL0000514)
Fold Change: 0.25
Marker Score: 120
Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
Fold Change: 0.24
Marker Score: 239
Cell Name: CD14-positive monocyte (CL0001054)
Fold Change: 0.23
Marker Score: 566
Cell Name: precursor B cell (CL0000817)
Fold Change: 0.2
Marker Score: 129
Cell Name: early promyelocyte (CL0002154)
Fold Change: 0.19
Marker Score: 153
Cell Name: myeloid leukocyte (CL0000766)
Fold Change: 0.18
Marker Score: 212.5
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 0.17
Marker Score: 410
Cell Name: promonocyte (CL0000559)
Fold Change: 0.17
Marker Score: 111
Cell Name: promyelocyte (CL0000836)
Fold Change: 0.17
Marker Score: 84
Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 0.16
Marker Score: 98
Cell Name: immature neutrophil (CL0000776)
Fold Change: 0.16
Marker Score: 55
Cell Name: granulocyte (CL0000094)
Fold Change: 0.16
Marker Score: 70
Cell Name: neuronal receptor cell (CL0000006)
Fold Change: 0.16
Marker Score: 69
Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
Fold Change: 0.14
Marker Score: 57
Cell Name: myelocyte (CL0002193)
Fold Change: 0.12
Marker Score: 51
Cell Name: connective tissue cell (CL0002320)
Fold Change: 0.11
Marker Score: 29
Cell Name: intermediate monocyte (CL0002393)
Fold Change: 0.11
Marker Score: 38
Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
Fold Change: 0.11
Marker Score: 53
Cell Name: kidney capillary endothelial cell (CL1000892)
Fold Change: 0.1
Marker Score: 32
Cell Name: pancreatic A cell (CL0000171)
Fold Change: 0.1
Marker Score: 99
Cell Name: double negative thymocyte (CL0002489)
Fold Change: 0.1
Marker Score: 139.5
Cell Name: mast cell (CL0000097)
Fold Change: 0.1
Marker Score: 58
Cell Name: hematopoietic cell (CL0000988)
Fold Change: 0.1
Marker Score: 65
Cell Name: erythroid lineage cell (CL0000764)
Fold Change: 0.09
Marker Score: 46
Cell Name: primitive red blood cell (CL0002355)
Fold Change: 0.09
Marker Score: 69
Cell Name: microglial cell (CL0000129)
Fold Change: 0.09
Marker Score: 166
Cell Name: ciliated epithelial cell (CL0000067)
Fold Change: 0.09
Marker Score: 41
Cell Name: megakaryocyte (CL0000556)
Fold Change: 0.09
Marker Score: 49
Cell Name: common lymphoid progenitor (CL0000051)
Fold Change: 0.08
Marker Score: 57
Cell Name: plasma cell (CL0000786)
Fold Change: 0.08
Marker Score: 92
Cell Name: type B pancreatic cell (CL0000169)
Fold Change: 0.08
Marker Score: 81
Cell Name: fraction A pre-pro B cell (CL0002045)
Fold Change: 0.08
Marker Score: 80
Cell Name: elicited macrophage (CL0000861)
Fold Change: 0.08
Marker Score: 473
Cell Name: kidney connecting tubule epithelial cell (CL1000768)
Fold Change: 0.07
Marker Score: 102
Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: 0.07
Marker Score: 3826
Cell Name: endothelial cell (CL0000115)
Fold Change: 0.07
Marker Score: 61
Cell Name: pre-conventional dendritic cell (CL0002010)
Fold Change: 0.07
Marker Score: 20
Cell Name: Hofbauer cell (CL3000001)
Fold Change: 0.07
Marker Score: 37
Cell Name: mononuclear phagocyte (CL0000113)
Fold Change: 0.07
Marker Score: 67
Cell Name: oligodendrocyte precursor cell (CL0002453)
Fold Change: 0.06
Marker Score: 78
Cell Name: erythrocyte (CL0000232)
Fold Change: 0.06
Marker Score: 34
Cell Name: pro-B cell (CL0000826)
Fold Change: 0.06
Marker Score: 59
Cell Name: common dendritic progenitor (CL0001029)
Fold Change: 0.06
Marker Score: 21
Cell Name: alpha-beta T cell (CL0000789)
Fold Change: 0.06
Marker Score: 45
Cell Name: B-1a B cell (CL0000820)
Fold Change: 0.06
Marker Score: 14
Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
Fold Change: 0.06
Marker Score: 102
Cell Name: adventitial cell (CL0002503)
Fold Change: 0.06
Marker Score: 14
Cell Name: neutrophil (CL0000775)
Fold Change: 0.06
Marker Score: 34
Cell Name: leukocyte (CL0000738)
Fold Change: 0.06
Marker Score: 32
Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.05
Marker Score: 65
Cell Name: hematopoietic stem cell (CL0000037)
Fold Change: 0.05
Marker Score: 27
Cell Name: osteoclast (CL0000092)
Fold Change: 0.05
Marker Score: 25
Cell Name: classical monocyte (CL0000860)
Fold Change: 0.05
Marker Score: 206
Cell Name: dendritic cell (CL0000451)
Fold Change: 0.05
Marker Score: 34
Cell Name: B cell (CL0000236)
Fold Change: 0.05
Marker Score: 47
Cell Name: monocyte (CL0000576)
Fold Change: 0.05
Marker Score: 64
Cell Name: eosinophil (CL0000771)
Fold Change: 0.05
Marker Score: 16
Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
Fold Change: 0.05
Marker Score: 35
Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
Fold Change: 0.05
Marker Score: 76
Cell Name: mature NK T cell (CL0000814)
Fold Change: 0.05
Marker Score: 21
Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
Fold Change: 0.04
Marker Score: 75
Cell Name: exhausted T cell (CL0011025)
Fold Change: 0.04
Marker Score: 25
Cell Name: alternatively activated macrophage (CL0000890)
Fold Change: 0.04
Marker Score: 18
Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
Fold Change: 0.04
Marker Score: 111
Cell Name: naive regulatory T cell (CL0002677)
Fold Change: 0.04
Marker Score: 13
Cell Name: professional antigen presenting cell (CL0000145)
Fold Change: 0.04
Marker Score: 22

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**Key characteristics:** * The CEBPE gene is located on chromosome 17q23.1. * It is a highly conserved gene with homologues in other species. * It is a member of the CCAAT family of transcription factors, which are involved in regulating cell cycle progression, proliferation, and differentiation. * CEBPE is a key regulator of immune cell development and function. **Pathways and functions:** * CEBPE is a key regulator of granulopoiesis, the process of blood cell production. * It is expressed in high levels in blood vessel endothelial cells, which are responsible for the formation of new blood vessels. * It is also expressed in kidney cells, where it plays a role in regulating blood pressure and fluid balance. * In immune cells, CEBPE is critical for the development and function of macrophages, dendritic cells, and neutrophils. * It is involved in the regulation of inflammation, immune responses, and tissue development. **Clinical significance:** * Mutations in the CEBPE gene have been linked to several human diseases, including cancer, autoimmune disorders, and inflammatory diseases. * In cancer, CEBPE mutations can lead to the activation of oncogenes and the development of tumors. * Targeting CEBPE has emerged as a promising therapeutic strategy for cancer and other diseases where CEBPE is overexpressed. **Conclusion:** The CEBPE gene is a critical regulator of immune cell development, function, and disease. Its mutations have significant clinical implications, highlighting the importance of CEBPE in human health and disease.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

CCAAT/enhancer-binding protein epsilon

Genular Protein ID: 2989185112

Symbol: CEBPE_HUMAN

Name: CCAAT/enhancer-binding protein epsilon

UniProtKB Accession Codes:

Q15744 Q15745 Q8IYI2 Q99803

Database IDs:

Citations:

PubMed ID: 8661101

Title: A novel human CCAAT/enhancer binding protein gene, C/EBPepsilon, is expressed in cells of lymphoid and myeloid lineages and is localized on chromosome 14q11.2 close to the T-cell receptor alpha/delta locus.

PubMed ID: 8661101

DOI: 10.1006/geno.1996.0319

PubMed ID: 9032264

Title: Cloning of the novel human myeloid-cell-specific C/EBP-epsilon transcription factor.

PubMed ID: 9032264

DOI: 10.1128/mcb.17.3.1375

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10359588

Title: Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon.

PubMed ID: 10359588

DOI: 10.1084/jem.189.11.1847

PubMed ID: 11313242

Title: Neutrophil-specific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein--epsilon.

PubMed ID: 11313242

DOI: 10.1182/blood.v97.9.2561

PubMed ID: 26019275

Title: A novel in-frame deletion in the leucine zipper domain of C/EBPepsilon leads to neutrophil-specific granule deficiency.

PubMed ID: 26019275

DOI: 10.4049/jimmunol.1402222

PubMed ID: 28369036

Title: Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes.

PubMed ID: 28369036

DOI: 10.1038/ng.3833

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 31201888

Title: Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy.

PubMed ID: 31201888

DOI: 10.1016/j.jaci.2019.06.003

PubMed ID: 17244686

Title: Growth factor independence-1 (Gfi-1) plays a role in mediating specific granule deficiency (SGD) in a patient lacking a gene-inactivating mutation in the C/EBPepsilon gene.

PubMed ID: 17244686

DOI: 10.1182/blood-2005-05-022004

PubMed ID: 29651288

Title: CEBPE-mutant specific granule deficiency correlates with aberrant granule organization and substantial proteome alterations in neutrophils.

PubMed ID: 29651288

DOI: 10.3389/fimmu.2018.00588

PubMed ID: 32391290

Title: Brain Abscess as Severe Presentation of Specific Granule Deficiency.

PubMed ID: 32391290

DOI: 10.3389/fped.2020.00117

Sequence Information:

Length: 281
Mass: 30603
Checksum: B0A1DFA88C04C3D0
Sequence:

MSHGTYYECE PRGGQQPLEF SGGRAGPGEL GDMCEHEASI DLSAYIESGE EQLLSDLFAV 
KPAPEARGLK GPGTPAFPHY LPPDPRPFAY PPHTFGPDRK ALGPGIYSSP GSYDPRAVAV 
KEEPRGPEGS RAASRGSYNP LQYQVAHCGQ TAMHLPPTLA APGQPLRVLK APLATAAPPC 
SPLLKAPSPA GPLHKGKKAV NKDSLEYRLR RERNNIAVRK SRDKAKRRIL ETQQKVLEYM 
AENERLRSRV EQLTQELDTL RNLFRQIPEA ANLIKGVGGC S

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.

Details for: CEBPE

Associated with

Cells (max top 100)

Other Information

A novel human CCAAT/enhancer binding protein gene, C/EBPepsilon, is expressed in cells of lymphoid and myeloid lineages and is localized on chromosome 14q11.2 close to the T-cell receptor alpha/delta locus. PubMed ID: 8661101

Cloning of the novel human myeloid-cell-specific C/EBP-epsilon transcription factor. PubMed ID: 9032264

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon. PubMed ID: 10359588

Neutrophil-specific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein--epsilon. PubMed ID: 11313242

A novel in-frame deletion in the leucine zipper domain of C/EBPepsilon leads to neutrophil-specific granule deficiency. PubMed ID: 26019275

Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes. PubMed ID: 28369036

Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. PubMed ID: 28112733

Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy. PubMed ID: 31201888

Growth factor independence-1 (Gfi-1) plays a role in mediating specific granule deficiency (SGD) in a patient lacking a gene-inactivating mutation in the C/EBPepsilon gene. PubMed ID: 17244686

CEBPE-mutant specific granule deficiency correlates with aberrant granule organization and substantial proteome alterations in neutrophils. PubMed ID: 29651288

Brain Abscess as Severe Presentation of Specific Granule Deficiency. PubMed ID: 32391290