CEBPE (CCAAT enhancer binding protein epsilon)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1053
Gene name Gene Name - the full gene name approved by the HGNC.
CCAAT enhancer binding protein epsilon
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CEBPE
Synonyms (NCBI Gene) Gene synonyms aliases
C/EBP-epsilon, CRP1, IMD108, SGD1, c/EBP epsilon
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs760325316 G>A Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT022958 hsa-miR-124-3p Microarray 18668037
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
STAT1 Activation 16918696
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600749 1836 ENSG00000092067
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Transcriptional misregulation in cancer
Acute myeloid leukemia 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Specific Granule Deficiency specific granule deficiency 1, specific granule deficiency rs2140292116, rs2140291802, rs760325316 N/A
Show/Hide Text Mining Associations (14)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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