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Aliases for CEBPA Gene

Aliases for CEBPA Gene

  • CCAAT/Enhancer Binding Protein Alpha 2 3 5
  • CCAAT/Enhancer Binding Protein (C/EBP), Alpha 2 3
  • CEBP 3 4
  • CCAAT/Enhancer-Binding Protein Alpha 3
  • C/EBP-Alpha 3
  • C/EBP Alpha 4

External Ids for CEBPA Gene

Previous HGNC Symbols for CEBPA Gene

  • CEBP

Previous GeneCards Identifiers for CEBPA Gene

  • GC19M034408
  • GC19M034239
  • GC19M038466
  • GC19M038482
  • GC19M033790
  • GC19M030291

Summaries for CEBPA Gene

Entrez Gene Summary for CEBPA Gene

  • This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. Mutation of this gene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUG (GUG) and AUG start codons results in protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the GUG and the first AUG start codons. [provided by RefSeq, Dec 2013]

CIViC summary for CEBPA Gene

  • 'AML with mutated CEBPA' is a provisional entity in the WHO classification of acute myeloid leukemia (AML) and is recommended to be tested for in patients with AML. CEBPA mutations are particularly associated with cytogenetically normal AML (CN-AML). CEBPA is an intronless gene that is required for granulocyte formation in mice. N-terminal nonsense mutations result in a dominant negative C/EBP-alpha protein while C-terminal mutations reduce the DNA-binding potential of this transcription factor. CEBPA mutations are associated with a favorable prognosis, however, NPM1 and FLT3 mutations should also be assessed in CN-AML patients as concurrent mutations may have prognostic implications.

GeneCards Summary for CEBPA Gene

CEBPA (CCAAT/Enhancer Binding Protein Alpha) is a Protein Coding gene. Diseases associated with CEBPA include Leukemia, Acute Myeloid and Leukemia. Among its related pathways are PEDF Induced Signaling and Transcription factor regulation in adipogenesis. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is CEBPB.

UniProtKB/Swiss-Prot for CEBPA Gene

  • Transcription factor that coordinates proliferation arrest and the differentiation of myeloid progenitors, adipocytes, hepatocytes, and cells of the lung and the placenta. Binds directly to the consensus DNA sequence 5-T[TG]NNGNAA[TG]-3 acting as an activator on distinct target genes (PubMed:11242107). During early embryogenesis, plays essential and redundant functions with CEBPB. Essential for the transition from common myeloid progenitors (CMP) to granulocyte/monocyte progenitors (GMP). Critical for the proper development of the liver and the lung (By similarity). Necessary for terminal adipocyte differentiation, is required for postnatal maintenance of systemic energy homeostasis and lipid storage (By similarity). To regulate these different processes at the proper moment and tissue, interplays with other transcription factors and modulators. Downregulates the expression of genes that maintain cells in an undifferentiated and proliferative state through E2F1 repression, which is critical for its ability to induce adipocyte and granulocyte terminal differentiation. Reciprocally E2F1 blocks adipocyte differentiation by binding to specific promoters and repressing CEBPA binding to its target gene promoters. Proliferation arrest also depends on a functional binding to SWI/SNF complex (PubMed:14660596). In liver, regulates gluconeogenesis and lipogenesis through different mechanisms. To regulate gluconeogenesis, functionally cooperates with FOXO1 binding to IRE-controlled promoters and regulating the expression of target genes such as PCK1 or G6PC. To modulate lipogenesis, interacts and transcriptionally synergizes with SREBF1 in promoter activation of specific lipogenic target genes such as ACAS2. In adipose tissue, seems to act as FOXO1 coactivator accessing to ADIPOQ promoter through FOXO1 binding sites (By similarity).

  • Isoform 3: Can act as dominant-negative. Binds DNA and have transctivation activity, even if much less efficiently than isoform 2. Does not inhibit cell proliferation (PubMed:14660596).

  • Isoform 4: Directly and specifically enhances ribosomal DNA transcription interacting with RNA polymerase I-specific cofactors and inducing histone acetylation.

Gene Wiki entry for CEBPA Gene

Additional gene information for CEBPA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEBPA Gene

Genomics for CEBPA Gene

GeneHancer (GH) Regulatory Elements for CEBPA Gene

Promoters and enhancers for CEBPA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I033296 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 552.2 +1.2 1158 10.6 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF213 ZNF416 ZNF143 CEBPA-AS1 CEBPA ENSG00000267580 ENSG00000267727 GC19M033302 GPATCH1 ZNF507 CEP89 LSM14A KIAA0355
GH19I033273 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 4.4 +27.5 27511 3.3 CLOCK FOXA2 MLX ARID4B DMAP1 ZNF2 YY1 ZNF302 ZNF416 ZNF548 GPATCH1 ZNF507 CEP89 LSM14A KIAA0355 PDCD5 CEBPG WDR88 FAAP24 DPY19L3
GH19I033267 Enhancer 1.1 FANTOM5 Ensembl dbSUPER 6.4 +34.4 34364 2.4 ZBTB6 ZSCAN4 MAX EBF1 ZBTB40 ZIC2 HIC1 ZNF121 ZNF335 ZFHX2 CEBPG CEBPA PIR37620 SLC7A10
GH19I033259 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 4.4 +42.1 42063 2.6 EBF1 ZIC2 GABPA ZNF121 ZFHX2 POLR2A GLIS1 PRDM10 MYC WT1 CEBPA PIR37620 SLC7A10
GH19I033401 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 2 -101.3 -101309 4 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 SLC30A9 GLIS2 RXRA CEBPG CHST8 GPATCH1 CEP89 LSM14A PEPD CEBPA GC19P033418
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CEBPA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CEBPA gene promoter:

Genomic Locations for CEBPA Gene

Genomic Locations for CEBPA Gene
chr19:33,299,934-33,302,564
(GRCh38/hg38)
Size:
2,631 bases
Orientation:
Minus strand
chr19:33,790,840-33,793,470
(GRCh37/hg19)

Genomic View for CEBPA Gene

Genes around CEBPA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEBPA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEBPA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEBPA Gene

Proteins for CEBPA Gene

  • Protein details for CEBPA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49715-CEBPA_HUMAN
    Recommended name:
    CCAAT/enhancer-binding protein alpha
    Protein Accession:
    P49715
    Secondary Accessions:
    • A7LNP2
    • P78319
    • Q05CA4

    Protein attributes for CEBPA Gene

    Size:
    358 amino acids
    Molecular mass:
    37561 Da
    Quaternary structure:
    • Binds DNA as a homodimer and as a heterodimer. Can form stable heterodimers with CEBPB, CEBPD, CEBPE and CEBPG (By similarity). Interacts with PRDM16 (By similarity). Interacts with UBN1 (PubMed:10725330). Interacts with ZNF638; this interaction increases transcriptional activation (By similarity). Interacts with the complex TFDP2:E2F1; the interaction prevents CEBPA binding to target gene promoters and represses its transcriptional activity (PubMed:20176812). Interacts with RB1 (PubMed:15107404). Interacts (when phosphorylated at SER-190) with CDK2, CDK4, E2F4 and SMARCA2 (PubMed:15107404). Interacts with SREBPF1 (By similarity). Interacts with FOXO1 (via the Fork-head domain); the interaction increases when FOXO1 is deacetylated (By similarity). Isoform 1 and isoform 4 interacts with TAF1A and UBTF (PubMed:20075868). Isoform 4 interacts with NPM1 (PubMed:20075868). Interacts with HBV protein X (PubMed:9915821). Interacts (via recognition sequence) with TRIB1 (PubMed:20410507, PubMed:26455797).

    Alternative splice isoforms for CEBPA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEBPA Gene

Post-translational modifications for CEBPA Gene

  • Phosphorylation at Ser-190 is required for interaction with CDK2, CDK4 and SWI/SNF complex leading to cell cycle inhibiton. Dephosphorylated at Ser-190 by protein phosphatase 2A (PP2A) through PI3K/AKT signaling pathway regulation (PubMed:15107404). Phosphorylation at Thr-226 and Thr-230 by GSK3 is constitutive in adipose tissue and lung. In liver, both Thr-226 and Thr-230 are phosphorylated only during feeding but not during fasting. Phosphorylation of the GSK3 consensus sites selectively decreases transactivation activity on IRE-controlled promoters.
  • Sumoylated, sumoylation blocks the inhibitory effect on cell proliferation by disrupting the interaction with SMARCA2.
  • Ubiquitinated by RFWD2/COP1 upon interaction with TRIB1.
  • Ubiquitination at posLast=161161 and posLast=313313

Other Protein References for CEBPA Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CEBPA (C/EBP-alpha)

No data available for DME Specific Peptides for CEBPA Gene

Domains & Families for CEBPA Gene

Gene Families for CEBPA Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for CEBPA Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEBPA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P49715

UniProtKB/Swiss-Prot:

CEBPA_HUMAN :
  • The recognition sequence (54-72) is required for interaction with TRIB1.
  • Belongs to the bZIP family. C/EBP subfamily.
Domain:
  • The recognition sequence (54-72) is required for interaction with TRIB1.
Family:
  • Belongs to the bZIP family. C/EBP subfamily.
genes like me logo Genes that share domains with CEBPA: view

Function for CEBPA Gene

Molecular function for CEBPA Gene

GENATLAS Biochemistry:
CCAAT enhancer binding protein alpha (C/EBP),expressed at highest level in placenta,also expressed in liver,lung,skeletal muscle,pancreas,colon,small intestine,peripheral lymphocytes,not expressed in preadipocytes,induced by CEBPB and CEBPD,coexpressed with and cross-regulated by PPARG,jointly required for full adipocyte differentiation,likely involved in adipocyte differentiation putative down regulated c-Myc target gene,
UniProtKB/Swiss-Prot Function:
Transcription factor that coordinates proliferation arrest and the differentiation of myeloid progenitors, adipocytes, hepatocytes, and cells of the lung and the placenta. Binds directly to the consensus DNA sequence 5-T[TG]NNGNAA[TG]-3 acting as an activator on distinct target genes (PubMed:11242107). During early embryogenesis, plays essential and redundant functions with CEBPB. Essential for the transition from common myeloid progenitors (CMP) to granulocyte/monocyte progenitors (GMP). Critical for the proper development of the liver and the lung (By similarity). Necessary for terminal adipocyte differentiation, is required for postnatal maintenance of systemic energy homeostasis and lipid storage (By similarity). To regulate these different processes at the proper moment and tissue, interplays with other transcription factors and modulators. Downregulates the expression of genes that maintain cells in an undifferentiated and proliferative state through E2F1 repression, which is critical for its ability to induce adipocyte and granulocyte terminal differentiation. Reciprocally E2F1 blocks adipocyte differentiation by binding to specific promoters and repressing CEBPA binding to its target gene promoters. Proliferation arrest also depends on a functional binding to SWI/SNF complex (PubMed:14660596). In liver, regulates gluconeogenesis and lipogenesis through different mechanisms. To regulate gluconeogenesis, functionally cooperates with FOXO1 binding to IRE-controlled promoters and regulating the expression of target genes such as PCK1 or G6PC. To modulate lipogenesis, interacts and transcriptionally synergizes with SREBF1 in promoter activation of specific lipogenic target genes such as ACAS2. In adipose tissue, seems to act as FOXO1 coactivator accessing to ADIPOQ promoter through FOXO1 binding sites (By similarity).
UniProtKB/Swiss-Prot Function:
Isoform 3: Can act as dominant-negative. Binds DNA and have transctivation activity, even if much less efficiently than isoform 2. Does not inhibit cell proliferation (PubMed:14660596).
UniProtKB/Swiss-Prot Function:
Isoform 4: Directly and specifically enhances ribosomal DNA transcription interacting with RNA polymerase I-specific cofactors and inducing histone acetylation.

Phenotypes From GWAS Catalog for CEBPA Gene

Gene Ontology (GO) - Molecular Function for CEBPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IMP,IEA 16946298
GO:0003677 DNA binding TAS 8643605
GO:0003700 DNA binding transcription factor activity TAS,IDA 11242107
genes like me logo Genes that share ontologies with CEBPA: view
genes like me logo Genes that share phenotypes with CEBPA: view

Human Phenotype Ontology for CEBPA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CEBPA Gene

MGI Knock Outs for CEBPA:

Clone Products

  • Addgene plasmids for CEBPA

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CEBPA Gene

Localization for CEBPA Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEBPA Gene

Nucleus.
Isoform 4: Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CEBPA gene
Compartment Confidence
nucleus 5
extracellular 2
peroxisome 2
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CEBPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 7575576
GO:0005654 nucleoplasm IDA --
GO:0005667 transcription factor complex IEA --
GO:0005730 nucleolus IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with CEBPA: view

Pathways & Interactions for CEBPA Gene

genes like me logo Genes that share pathways with CEBPA: view

SIGNOR curated interactions for CEBPA Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CEBPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000050 urea cycle IEA --
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0001889 liver development ISS,IEA --
GO:0001892 embryonic placenta development IEA --
GO:0006091 generation of precursor metabolites and energy TAS 8643605
genes like me logo Genes that share ontologies with CEBPA: view

Drugs & Compounds for CEBPA Gene

(5) Drugs for CEBPA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(8) Additional Compounds for CEBPA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CEBPA: view

Transcripts for CEBPA Gene

mRNA/cDNA for CEBPA Gene

Unigene Clusters for CEBPA Gene

CCAAT/enhancer binding protein (C/EBP), alpha:
Representative Sequences:

Clone Products

  • Addgene plasmids for CEBPA

Alternative Splicing Database (ASD) splice patterns (SP) for CEBPA Gene

No ASD Table

Relevant External Links for CEBPA Gene

GeneLoc Exon Structure for
CEBPA
ECgene alternative splicing isoforms for
CEBPA

Expression for CEBPA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CEBPA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CEBPA Gene

This gene is overexpressed in Liver (x7.6), Adipose - Subcutaneous (x5.5), Skin - Not Sun Exposed (Suprapubic) (x5.4), Adipose - Visceral (Omentum) (x4.9), and Skin - Sun Exposed (Lower leg) (x4.8).

Protein differential expression in normal tissues from HIPED for CEBPA Gene

This gene is overexpressed in Placenta (37.1), Liver (23.2), and Fetal gut (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CEBPA Gene



Protein tissue co-expression partners for CEBPA Gene

NURSA nuclear receptor signaling pathways regulating expression of CEBPA Gene:

CEBPA

SOURCE GeneReport for Unigene cluster for CEBPA Gene:

Hs.76171

Evidence on tissue expression from TISSUES for CEBPA Gene

  • Liver(4.5)
  • Pancreas(4.1)
  • Blood(2.2)
  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CEBPA Gene

Germ Layers:
  • mesoderm
Systems:
  • immune
  • lymphatic
Regions:
General:
  • blood
  • bone marrow
  • white blood cell
genes like me logo Genes that share expression patterns with CEBPA: view

No data available for mRNA Expression by UniProt/SwissProt for CEBPA Gene

Orthologs for CEBPA Gene

This gene was present in the common ancestor of animals.

Orthologs for CEBPA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CEBPA 33 34
  • 99.22 (n)
dog
(Canis familiaris)
Mammalia CEBPA 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CEBPA 33
  • 93.77 (n)
mouse
(Mus musculus)
Mammalia Cebpa 33 16 34
  • 92 (n)
rat
(Rattus norvegicus)
Mammalia Cebpa 33
  • 91.9 (n)
oppossum
(Monodelphis domestica)
Mammalia CEBPA 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEBPA 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves EBP 34
  • 92 (a)
OneToOne
CEBPA 33
  • 75.13 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 49 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cebpa 33
  • 65.32 (n)
Str.15309 33
African clawed frog
(Xenopus laevis)
Amphibia cebpa-prov 33
zebrafish
(Danio rerio)
Actinopterygii cebpa 33 34
  • 65.72 (n)
worm
(Caenorhabditis elegans)
Secernentea cebp-2 34
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 24 (a)
OneToMany
Species where no ortholog for CEBPA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CEBPA Gene

ENSEMBL:
Gene Tree for CEBPA (if available)
TreeFam:
Gene Tree for CEBPA (if available)

Paralogs for CEBPA Gene

Paralogs for CEBPA Gene

(1) SIMAP similar genes for CEBPA Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CEBPA: view

Variants for CEBPA Gene

Sequence variations from dbSNP and Humsavar for CEBPA Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1007915253 uncertain-significance, Acute myeloid leukemia 33,302,374(-) G/C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1027991203 uncertain-significance, Acute myeloid leukemia 33,302,090(-) G/A 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1049967 benign, Acute myeloid leukemia 33,301,661(-) C/A coding_sequence_variant, missense_variant
rs1060502117 uncertain-significance, Acute myeloid leukemia 33,301,370(-) A/G/T coding_sequence_variant, missense_variant
rs1060502118 uncertain-significance, Acute myeloid leukemia 33,301,819(-) GC/AA coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for CEBPA Gene

Variant ID Type Subtype PubMed ID
esv2758755 CNV gain 17122850
nsv1072880 CNV deletion 25765185
nsv2463 CNV deletion 18451855
nsv833808 CNV loss 17160897

Variation tolerance for CEBPA Gene

Gene Damage Index Score: 0.33; 7.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CEBPA Gene

Human Gene Mutation Database (HGMD)
CEBPA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEBPA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEBPA Gene

Disorders for CEBPA Gene

MalaCards: The human disease database

(11) MalaCards diseases for CEBPA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leukemia, acute myeloid
  • aml
leukemia
acute myeloid leukemia with t(8;21)(q22;q22) translocation
  • aml with t(8;21)(q22;q22) translocation
acute leukemia
  • stem cell leukaemia
cytogenetically normal acute myeloid leukemia
  • acute myelogenous leukemia with normal karyotype
- elite association - COSMIC cancer census association via MalaCards
Search CEBPA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CEBPA_HUMAN
  • Leukemia, acute myelogenous (AML) [MIM:601626]: A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269 PubMed:11242107, ECO:0000269 PubMed:12661007, ECO:0000269 PubMed:15575056}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CEBPA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CEBPA: view

No data available for Genatlas for CEBPA Gene

Publications for CEBPA Gene

  1. CCAAT/enhancer-binding protein alpha (CEBPA) polymorphisms and mutations in healthy individuals and in patients with peripheral artery disease, ischaemic heart disease and hyperlipidaemia. (PMID: 20492756) Fuchs O … Chochola M (Folia biologica 2010) 3 22 44 58
  2. CEBPA polymorphisms and mutations in patients with acute myeloid leukemia, myelodysplastic syndrome, multiple myeloma and non-Hodgkin's lymphoma. (PMID: 18182175) Fuchs O … Benesova K (Blood cells, molecules & diseases 2008) 3 22 44 58
  3. Somatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia. (PMID: 18768433) Pabst T … Mueller BU (Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2008) 3 22 44 58
  4. Prevalence, clinical profile, and prognosis of NPM mutations in AML with normal karyotype. (PMID: 16046528) Boissel N … Preudhomme C (Blood 2005) 3 22 44 58
  5. CEBPA point mutations in hematological malignancies. (PMID: 15674366) Leroy H … Preudhomme C (Leukemia 2005) 3 22 44 58

Products for CEBPA Gene

  • Addgene plasmids for CEBPA

Sources for CEBPA Gene

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