CEBPE - CCAAT enhancer binding protein epsilon Gene

Homo sapiens

Also known as CRP1; SGD1; IMD108; C/EBP-epsilon; c/EBP epsilon

Gene ID: 1053 | Gene type: protein coding

About CEBPE

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:23,117,306-23,119,255 (from NCBI)

This gene has 3 transcripts (splice variants), 173 orthologues, 4 paralogues and is associated with 3 phenotypes. Biased expression in bone marrow (RPKM 14.1) and small intestine (RPKM 1.0).

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]

CEBPE Products(1)

mRNA	Protein	Name
NM_001805.4	NP_001796.2	CCAAT/enhancer-binding protein epsilon

CEBPE Protein Structure

bZIP_2

0
100
200
281 a.a.

Protein Preferred Names

Protein Names

CCAAT/enhancer-binding protein epsilon

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

Related Diseases

Diseases

Alias

Specific Granule Deficiency 1

Specific Granule Deficiency	Neutrophil-Specific Granule Deficiency
SGD1	Lactoferrin-Deficient Neutrophils
Neutrophil Lactoferrin Deficiency	Recurrent Infection Due To Specific Granule Deficiency
Neutrophil Secondary Granule Deficiency

Immunodeficiency 108 With Autoinflammation

Pelger-Huet-Like Anomaly And Episodic Fever With Abdominal Pain

IMD108

Cebpe-Associated Autoinflammation-Immunodeficiency-Neutrophil Dysfunction Syndrome

Cain

Severe Congenital Neutropenia

Congenital Neutropenia	Neutropenia, Severe Congenital
Congenital Agranulocytosis	Infantile Genetic Agranulocytosis
Kostmann Disease	Kostmann'S Agranulocytosis
Kostmann'S Syndrome	Severe Infantile Genetic Neutropenia

B-Lymphoblastic Leukemia/Lymphoma With Etv6-Runx1

B-All With Etv6-Runx1	B-Lymphoblastic Leukemia/Lymphoma With T(12
21)(P13.2	Q22.1)
Etv6-Runx1	B Lymphoblastic Leukemia/Lymphoma With T(12
21)(P13.2	Q22.1)
Etv6-Runx1

Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic	Acute Myeloblastic Leukemia Type 3
Aml M3	APL
Leukemia, Acute Promyelocytic, Somatic	Aml With T(15
17)(Q22	Q12)
(Pml/Raralpha) And Variants	Apml
Acute Myeloblastic Leukemia 3	Acute Myeloid Leukemia With T(15
17)(Q22	Q12)
(Pml/Raralpha) And Variants	Acute Myeloblastic Leukaemia Type 3
Acute Myeloid Leukaemia M3	Acute Myeloid Leukemia M3
Acute Promyelocytic Leukaemia	M3 Anll
Myeloid Leukemia, Acute, M3	Leukemia Promyelocytic Acute
Leukemia, Promyelocytic, Acute	Leukemia, Acute, Promyelocytic

Leukemia, Acute Myeloid

Acute Myeloid Leukemia	Leukemia, Acute Myelogenous
Acute Myelogenous Leukemia	AML
Leukemia, Acute Myeloid, Susceptibility To	Acute Myeloblastic Leukemia
Leukemia, Acute Myeloid, Reduced Survival In, Somatic	Acute Myeloid Leukaemia
Leukemia, Myelocytic, Acute	Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
Secondary Aml	Acute Myelocytic Leukemia
Acute Myeloid Leukemia, Somatic	Leukemia, Acute Myeloid, Somatic
Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic	Acute Myeloblastic Leukaemia
Acute Myelogenous Leukaemia	Aml - Acute Myeloid Leukemia
Acute Myeloid Leukemia With Cebpa Somatic Mutations	Aml With Cebpa Somatic Mutations
Inherited Acute Myeloid Leukemia	Familial Aml
Inherited Aml	Pure Familial Aml
Pure Familial Acute Myeloid Leukemia	Secondary Acute Myeloid Leukemia
Therapy-Related Aml And Myelodysplastic Syndrome	Acute Myeloid Leukemia, Secondary
Acute Non-Lymphoblastic Leukemia	Acute Non-Lymphocytic Leukemia
Acute Biphenotypic Leukemia	Acute Undifferentiated Leukemia
Acute Myeloblastic Leukaemia With Multilineage Dysplasia	Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission
Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02448	CEBPE Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CEBPE	RGD	RGD:2329
Macaca mulatta	CEBPE	VGNC	VGNC:71002
Canis familiaris	CEBPE	VGNC	VGNC:50442
Mus musculus	CEBPE	MGD	MGI:103572
Bos taurus	CEBPE	VGNC	VGNC:27162
Felis catus	CEBPE	VGNC	VGNC:60740

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