CEBPA

Summary

CEBPA (CCAAT enhancer binding protein alpha, HGNC:1833) is a protein-coding gene on chromosome 19q13.11, encoding CCAAT/enhancer-binding protein alpha (P49715). Transcription factor that coordinates proliferation arrest and the differentiation of myeloid progenitors, adipocytes, hepatocytes, and cells of the lung and the placenta. In precision oncology, CEBPA Mutation confers sensitivity to Tretinoin in Acute Myeloid Leukemia (CIViC Level B); 1 further curated variant–drug associations are listed below.

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.

Source: NCBI Gene 1050 — RefSeq curated summary.

At a glance

• Gene–disease (curated): acute myeloid leukemia (Definitive, ClinGen)
• GWAS associations: 58
• Clinical variants (ClinVar): 1,261 total — 42 pathogenic, 22 likely-pathogenic
• Phenotypes (HPO): 3
• Precision-oncology evidence (CIViC): 2 curated variant–drug associations
• Cancer driver (intOGen): activating (oncogene-like) across 1 cancer types
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• Transcription factor: yes — 327 downstream targets (CollecTRI)
• MANE Select transcript: NM_004364

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1833
Approved symbol	CEBPA
Name	CCAAT enhancer binding protein alpha
Location	19q13.11
Locus type	gene with protein product
Status	Approved
Aliases	C/EBP-alpha
Ensembl gene	ENSG00000245848
Ensembl biotype	protein_coding
OMIM	116897
Entrez	1050

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000498907

RefSeq mRNA: 4 — MANE Select: NM_004364 NM_001285829, NM_001287424, NM_001287435, NM_004364

CCDS: CCDS54243

Canonical transcript exons

ENST00000498907 — 1 exons

Exon	Start	End
ENSE00001973852	33299934	33302534

Expression profiles

Bgee: expression breadth ubiquitous, 258 present calls, max score 97.79.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.7425 / max 1550.0070, expressed in 1134 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
180411	34.6078	1131
180412	0.1347	51

Top tissues by expression

286 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
nipple	UBERON:0002030	97.79	gold quality
upper arm skin	UBERON:0004263	96.47	gold quality
penis	UBERON:0000989	96.36	gold quality
upper leg skin	UBERON:0004262	96.19	gold quality
skin of abdomen	UBERON:0001416	95.86	gold quality
right lobe of liver	UBERON:0001114	95.76	gold quality
skin of leg	UBERON:0001511	95.29	gold quality
monocyte	CL:0000576	95.26	gold quality
zone of skin	UBERON:0000014	95.07	gold quality
mononuclear cell	CL:0000842	94.99	gold quality
leukocyte	CL:0000738	94.71	gold quality
adipose tissue	UBERON:0001013	94.39	gold quality
subcutaneous adipose tissue	UBERON:0002190	94.32	gold quality
liver	UBERON:0002107	94.01	gold quality
mammalian vulva	UBERON:0000997	93.98	gold quality
connective tissue	UBERON:0002384	92.99	gold quality
mucosa of transverse colon	UBERON:0004991	92.37	gold quality
skin of hip	UBERON:0001554	92.15	gold quality
granulocyte	CL:0000094	92.01	gold quality
adipose tissue of abdominal region	UBERON:0007808	91.56	gold quality
ileal mucosa	UBERON:0000331	91.41	gold quality
omental fat pad	UBERON:0010414	91.13	gold quality
peritoneum	UBERON:0002358	91.08	gold quality
synovial joint	UBERON:0002217	91.03	gold quality
placenta	UBERON:0001987	89.82	gold quality
pericardium	UBERON:0002407	89.03	gold quality
jejunal mucosa	UBERON:0000399	88.99	gold quality
colonic mucosa	UBERON:0000317	88.96	gold quality
inferior vagus X ganglion	UBERON:0005363	88.93	gold quality
pharyngeal mucosa	UBERON:0000355	88.88	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-3929	yes	219.41
E-MTAB-6075	yes	64.66
E-HCAD-6	yes	26.03
E-MTAB-9067	yes	14.33
E-ANND-3	yes	14.15

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

327 targets.

Target	Regulation
AACS	Unknown
ABCA3	Activation
ABCB1	Unknown
ABCC1	Unknown
ACACA	Unknown
ACACB	Unknown
ACAT1	Unknown
ACE	Unknown
ADAM2
ADH1A
ADH1B	Activation
ADH1C
ADIPOQ	Unknown
ADRB2
ADRB3	Unknown
AEBP1	Unknown
AFP	Unknown
AGT	Unknown
AGXT	Unknown
AKR1C1	Unknown
ALB	Unknown
ALDOB	Unknown
ALOX5AP	Unknown
AMELX	Activation
AMELY	Activation
ANGPTL4	Repression
ANXA1	Repression
APBB1IP	Unknown
APOA1	Activation
APOA2

JASPAR motifs

Motif	Name	Family
MA0102.3	CEBPA	CEBP-related
MA0102.4	CEBPA	CEBP-related
MA0102.5	CEBPA	CEBP-related

JASPAR matrix evidence (PMIDs): PMID:1672737, PMID:8632009

Upstream regulators (CollecTRI, top): ARID5B, ATF1, ATF3, ATF4, ATF5, BMP2, CEBPA, CEBPB, CEBPD, CITED2, CREBL2, CTNNB1, DDIT3, EBF1, EGR1, FLT3, FOSL1, FOSL2, FOXA1, FOXA2, FOXA3, FOXC1, GATA1, GATA2, HBP1, HDAC1, HIF1A, HNF1A, HNF4A, KLF15, KLF2, KLF3, KLF5, LEF1, MAP2K1, MAX, MBD2, MYB, MYC, NFKB1

miRNA regulators (miRDB)

35 targeting CEBPA, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-190A-5P	99.54	71.45	933
HSA-MIR-190B-5P	99.54	71.40	925
HSA-MIR-5009-3P	99.45	69.43	1341
HSA-MIR-532-3P	99.34	65.76	1195
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-3978	99.24	68.39	2201
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-6506-5P	99.04	65.66	1386
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-876-3P	98.76	68.23	945
HSA-MIR-619-5P	98.57	64.97	1988
HSA-MIR-6867-3P	98.12	66.07	1305

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• mutational studies of the rat and chick orthologs demonstrating alternative translational initiation (PMID:10921906)
• Down-regulation and antiproliferative role of C/EBPalpha in lung cancer. (PMID:11809705)
• may function as a tumor suppressor that is mutated during tumorigenesis. Abnormalties in C/EBPalpha function contribute to the development of malignancies in a variety of tisues. (PMID:11830484)
• Surfactant protein D gene regulation. Interactions among the conserved CCAAT/enhancer-binding protein elements. (PMID:11912209)
• Conserved amino acids regulate phosphoenolpyruvate carboxykinase (PEPCK) gene expression. (PMID:11997389)
• expression level of the C/EBPalpha gene in hepatocytes was downregulated in response to proliferation signals (PMID:12011976)
• Conditional expression of C/EBP alpha induced the C/EBP family members C/EBP beta and C/EBP epsilon and subsequent granulocyte differentiation. (PMID:12036869)
• role in mediating GADD153 expression is involved in deoxycholic acid-induced apoptosis (PMID:12069855)
• Novel protein kinase C isoforms regulate human keratinocyte differentiation by activating a p38 delta mitogen-activated protein kinase cascade that targets this protein (PMID:12080077)
• C/EBPalpha and PU.1 interact physically and colocalize in myeloid cells, and C/EBPalpha blocks the function of PU.1. (PMID:12091339)
• C/EBPalpha is essential for p21-mediated inhibition of G1 to S-phase progression by RAP in KSHV-infected host cells (PMID:12145325)
• Calreticulin interacts with C/EBPalpha and C/EBPbeta mRNAs and represses translation of C/EBP proteins. (PMID:12242300)
• favorable prognostic significance of mutations in patients with de novo acute myeloid leukemia (PMID:12351377)
• CEBPA and CEBPe repress the leukemic phenotype of acute myeloid leukemia, suppress cell growth, and induce partial differentiation. (PMID:12393450)
• 5’-region from -252 to -175, containing a consensus site for CCAAT/enhancer binding proteins alpha,beta (C/EBPalpha,beta), was essential for SAA1 induction in HASMCs. (PMID:12410800)
• the level of basal as well as cAMP-stimulated IL-10 transcription depends on the expression of C/EBP alpha and beta and their binding to three motifs in the promoter/enhancer region (PMID:12493739)
• CCAAT/enhancer-binding protein alpha has a synergy control motif that inhibits transcriptional synergy through its PIASy-enhanced modification by SUMO-1 or SUMO-3 (PMID:12511558)
• C/EBP alpha binds to the lactoferrin promoter in nonexpressing cells. (PMID:12522000)
• affects on JunB expression and monocyte differentiation (PMID:12522006)
• The intimate association of Pit-1 and C/EBPalpha at certain sites within the living cell nucleus could foster their combinatorial activities in the regulation of pituitary-specific gene expression. (PMID:12554785)
• The emergence of a mutation in this protein is involved in the clonal evolution of myelodysplastic syndromes towards secondary acute myeloid leukemia. (PMID:12592334)
• C/EBP-alpha has been identified as a major activator of the human myeloid IgA Fc receptor promoter. (PMID:12594283)
• Mutation of CEBPA is a recurrent finding in acute myeloid leukemia FAB type M1 and M2 and appears specific to the intermediate cytogenetic risk group patients. (PMID:12661007)
• C/EBP alpha and HNF-3 gamma cooperatively regulate CYP3A4 expression in hepatic cells by a mechanism that probably involves chromatin remodeling. (PMID:12695546)
• C/EBP alpha may play role in the regulation of the resistin gene expression (PMID:12730330)
• Expression levels of both C/EBPalpha isoforms in breast tumors were correlated with clinicopathological tumor parameters, expression of estrogen and progesterone receptors (ER, PR), Ki67 immunostaining, and expression of 7 cell-cycle regulatory proteins. (PMID:12825852)
• C/EBP and RUNX/AML factors compete for binding to their respective cognate elements and bind to the CD11a promoter MS7 sequence in a cell lineage- and differentiation-dependent manner. (PMID:12855590)
• several regions of the C/EBP alpha protein are involved in inhibition of proliferative pathways in granulopoiesis (PMID:12869508)
• CCAAT/enhancer-binding protein-alpha is induced during the early stages of Kaposi’s sarcoma-associated herpesvirus lytic cycle reactivation (PMID:12915572)
• We conclude that C/EBPalpha and C/EBPbeta contribute to the deregulated expression of Bcl-2 in t(14;18) lymphoma cells (PMID:12970736)
• C/EBPalpha has a role in neutrophil differentiation (PMID:14517214)
• a novel mechanism for IL-6-mediated repression of gene transcription that involves a reduction in C/EBPalpha-mediated activation (PMID:14627805)
• Expression of mutated CEBPA in human CD34+ cord blood cells dramatically inhibited differentiation of both myeloid and erythroid lineages. (PMID:14656889)
• phosphorylation induces conformational changes in C/EBP alpha, increasing the distance between the amino termini of C/EBPalpha dimers. This favors monocyte differentiation by blocking granulopoiesis. (PMID:14701740)
• Mutant CEBPA predicts favorable prognosis and may improve risk stratification in acute myeloid leukemia patients with normal cytogenetics. (PMID:14726504)
• selective inhibition of G-CSF receptor expression by C/EBPalphap30-ER is due in part to its variable affinity for C/EBP sites (PMID:14737106)
• C-EBP has an essential role in regulating PDGFRalpha expression (PMID:14766209)
• interacts with Epstein-Barar virus ZTA protein through oligomerization and transactivates ZTA promoter by binding ZII and ZIIIB motifs during lytic cycle induction (PMID:15078966)
• CCAAT/enhancer-binding protein alpha (C/EBPalpha) activates transcription of the human microsomal epoxide hydrolase gene (EPHX1) through the interaction with DNA-bound NF-Y (PMID:15150264)
• Alterations in C/CAAT enhancer binding protein alpha and neuronal apoptosis inhibitory protein expression occurred in human adipose stromal-vascular cells after weight loss (PMID:15340105)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	cebpa	ENSDARG00000036074
mus_musculus	Cebpa	ENSMUSG00000034957
rattus_norvegicus	Cebpa	ENSRNOG00000010918
drosophila_melanogaster	slbo	FBGN0005638
caenorhabditis_elegans		WBGENE00016997
caenorhabditis_elegans	zip-4	WBGENE00021552

Paralogs (4): CEBPE (ENSG00000092067), CEBPG (ENSG00000153879), CEBPB (ENSG00000172216), CEBPD (ENSG00000221869)

Protein

Protein identifiers

CCAAT/enhancer-binding protein alpha — P49715 (reviewed: P49715)

All UniProt accessions (1): P49715

UniProt curated annotations — full annotation on UniProt →

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. 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. Necessary for terminal adipocyte differentiation, is required for postnatal maintenance of systemic energy homeostasis and lipid storage. To regulate these different processes at the proper moment and tissue, interplays with other transcription factors and modulators. Down-regulates 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. 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 G6PC1. 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. Can act as dominant-negative. Binds DNA and have transctivation activity, even if much less efficiently than isoform 2. Does not inhibit cell proliferation. Directly and specifically enhances ribosomal DNA transcription interacting with RNA polymerase I-specific cofactors and inducing histone acetylation.

Subunit / interactions. Binds DNA as a homodimer and as a heterodimer. Can form stable heterodimers with CEBPB, CEBPD, CEBPE and CEBPG. Interacts with PRDM16. Interacts with UBN1. Interacts with ZNF638; this interaction increases transcriptional activation. Interacts with the complex TFDP2:E2F1; the interaction prevents CEBPA binding to target gene promoters and represses its transcriptional activity. Interacts with RB1. Interacts (when phosphorylated at Ser-190) with CDK2, CDK4, E2F4 and SMARCA2. Interacts with SREBPF1. Interacts with FOXO1 (via the Fork-head domain); the interaction increases when FOXO1 is deacetylated. Interacts with SIX1. Interacts (via recognition sequence) with TRIB1. Interacts (via bZIP domain) with OVOL2 (via zinc-finger domains); the interaction inhibits the transcription factor activity of CEBPA and is required to repress adipogenesis. Interacts with TAF1A and UBTF. Interacts with TAF1A and UBTF. Interacts with NPM1. (Microbial infection) Interacts with HBV protein X. (Microbial infection) Interacts with Epstein-Barr virus lytic switch protein BZLF1; this interaction induces G1 cell cycle arrest.

Subcellular location. Nucleus Nucleus. Nucleolus.

Post-translational modifications. Phosphorylation at Ser-190 is required for interaction with CDK2, CDK4 and SWI/SNF complex leading to cell cycle inhibition. Dephosphorylated at Ser-190 by protein phosphatase 2A (PP2A) through PI3K/AKT signaling pathway regulation. 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 COP1 upon interaction with TRIB1.

Disease relevance. 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. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The recognition sequence (54-72) is required for interaction with TRIB1.

Similarity. Belongs to the bZIP family. C/EBP subfamily.

Isoforms (4)

UniProt ID	Names	Canonical?
P49715-1	1	yes
P49715-2	2, C/EBPalpha-p42
P49715-3	3, C/EBPalpha-p30
P49715-4	4, extended-C/EBPalpha

RefSeq proteins (4): NP_001272758, NP_001274353, NP_001274364, NP_004355* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004827	bZIP	Domain
IPR016468	C/EBP_chordates	Family
IPR031106	C/EBP	Family
IPR046347	bZIP_sf	Homologous_superfamily

Pfam: PF07716

UniProt features (51 total): mutagenesis site 13, region of interest 10, compositionally biased region 6, modified residue 5, sequence conflict 5, splice variant 3, helix 3, sequence variant 2, chain 1, domain 1, DNA-binding region 1, cross-link 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
8K8C	X-RAY DIFFRACTION	2.06
6DC0	X-RAY DIFFRACTION	2.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P49715-F1	63.67	0.21

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (6): 161, 190, 226, 230, 234, 161

Mutagenesis-validated functional residues (13):

Position	Phenotype
55	decreased interaction with trib1.
57	no effect on interaction with trib1.
58	no effect on interaction with trib1.
59	decreased interaction with trib1.
61	decreased interaction with trib1.
62	decreased interaction with trib1.
63	no effect on interaction with trib1.
64	decreased interaction with trib1.
65	no effect on interaction with trib1.
67	decreased interaction with trib1.
67	no effect on interaction with trib1.
68	decreased interaction with trib1.
69	no effect on interaction with trib1.

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

ID	Pathway
R-HSA-381340	Transcriptional regulation of white adipocyte differentiation
R-HSA-9616222	Transcriptional regulation of granulopoiesis
R-HSA-9841922	MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
R-HSA-1266738	Developmental Biology
R-HSA-212165	Epigenetic regulation of gene expression
R-HSA-74160	Gene expression (Transcription)
R-HSA-9818564	Epigenetic regulation of gene expression by MLL3 and MLL4 complexes
R-HSA-9843745	Adipogenesis
R-HSA-9851695	Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes
R-HSA-9917777	Epigenetic regulation by WDR5-containing histone modifying complexes

MSigDB gene sets: 440 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION, GOBP_REGULATION_OF_CELL_ACTIVATION, ELVIDGE_HYPOXIA_DN, GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_REGULATION_OF_FAT_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_MACROPHAGE_ACTIVATION, PID_HNF3B_PATHWAY, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, GNF2_GSTM1, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_POSITIVE_REGULATION_OF_FAT_CELL_DIFFERENTIATION

GO Biological Process (57): urea cycle (GO:0000050), negative regulation of transcription by RNA polymerase II (GO:0000122), liver development (GO:0001889), embryonic placenta development (GO:0001892), epithelial cell maturation (GO:0002070), osteoblast development (GO:0002076), generation of precursor metabolites and energy (GO:0006091), DNA-templated transcription (GO:0006351), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), transcription by RNA polymerase I (GO:0006360), acute-phase response (GO:0006953), mitochondrion organization (GO:0007005), Notch signaling pathway (GO:0007219), memory (GO:0007613), cholesterol metabolic process (GO:0008203), negative regulation of cell population proliferation (GO:0008285), positive regulation of gene expression (GO:0010628), cytokine-mediated signaling pathway (GO:0019221), myeloid cell differentiation (GO:0030099), macrophage differentiation (GO:0030225), lung development (GO:0030324), granulocyte differentiation (GO:0030851), animal organ regeneration (GO:0031100), positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436), response to vitamin B2 (GO:0033274), glucose homeostasis (GO:0042593), positive regulation of macrophage activation (GO:0043032), fat cell differentiation (GO:0045444), positive regulation of fat cell differentiation (GO:0045600), positive regulation of osteoblast differentiation (GO:0045669), negative regulation of cell cycle (GO:0045786), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of transcription by RNA polymerase II (GO:0045944), inner ear development (GO:0048839), positive regulation of inflammatory response (GO:0050729), white fat cell differentiation (GO:0050872), brown fat cell differentiation (GO:0050873), regulation of cell cycle (GO:0051726), lipid homeostasis (GO:0055088)

GO Molecular Function (22): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), RNA polymerase I transcription regulatory region sequence-specific DNA binding (GO:0001163), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), kinase binding (GO:0019900), chromatin DNA binding (GO:0031490), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), histone deacetylase binding (GO:0042826), protein-containing complex binding (GO:0044877), protein heterodimerization activity (GO:0046982), RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629), HMG box domain binding (GO:0071837), STAT family protein binding (GO:0097677), chromatin binding (GO:0003682), protein binding (GO:0005515), protein domain specific binding (GO:0019904), sequence-specific DNA binding (GO:0043565), DNA-binding transcription factor binding (GO:0140297)

GO Cellular Component (11): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), nucleolus (GO:0005730), nuclear matrix (GO:0016363), Rb-E2F complex (GO:0035189), CHOP-C/EBP complex (GO:0036488), RNA polymerase II transcription regulator complex (GO:0090575), C/EBP complex (GO:1990647), protein-containing complex (GO:0032991)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
Developmental Biology	2
Adipogenesis	1
Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes	1
Gene expression (Transcription)	1
Epigenetic regulation by WDR5-containing histone modifying complexes	1
Epigenetic regulation of gene expression by MLL3 and MLL4 complexes	1
Epigenetic regulation of gene expression	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
binding	3
cellular anatomical structure	3
nuclear lumen	3
RNA polymerase II transcription regulator complex	3
regulation of transcription by RNA polymerase II	2
transcription by RNA polymerase II	2
gene expression	2
DNA-templated transcription	2
regulation of gene expression	2
regulation of DNA-templated transcription	2
cell surface receptor signaling pathway	2
transcription cis-regulatory region binding	2
enzyme binding	2
protein binding	2
protein dimerization activity	2
biosynthetic process	1
urea metabolic process	1
negative regulation of DNA-templated transcription	1
gland development	1
hepaticobiliary system development	1
in utero embryonic development	1
placenta development	1
embryonic organ development	1
epithelial cell development	1
cell maturation	1
osteoblast differentiation	1
cell development	1
metabolic process	1
RNA biosynthetic process	1
regulation of RNA biosynthetic process	1
acute inflammatory response	1
organelle organization	1
learning or memory	1
sterol metabolic process	1
secondary alcohol metabolic process	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
positive regulation of macromolecule biosynthetic process	1

Protein interactions and networks

STRING

4318 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEBPA	FOXO1	Q12778	974
CEBPA	PPARG	P37231	964
CEBPA	SPI1	P17947	958
CEBPA	CEBPB	P17676	942
CEBPA	TP53	P04637	930
CEBPA	RUNX1	Q01196	925
CEBPA	PCBP2	Q15366	921
CEBPA	GATA2	P23769	872
CEBPA	CSF3R	Q99062	862
CEBPA	SMAD3	P84022	841
CEBPA	HDAC1	Q13547	838
CEBPA	JUN	P05412	837
CEBPA	FABP4	P15090	829
CEBPA	HNF4A	P41235	829
CEBPA	E2F1	Q01094	829

IntAct

91 interactions, top by confidence:

A	B	Type	Score
DDIT3	CEBPA	psi-mi:“MI:0407”(direct interaction)	0.710
CEBPA	DDIT3	psi-mi:“MI:0407”(direct interaction)	0.710
CEBPA	CEBPA	psi-mi:“MI:0407”(direct interaction)	0.620
CEBPG	CEBPA	psi-mi:“MI:0407”(direct interaction)	0.620
ATF4	CEBPA	psi-mi:“MI:0407”(direct interaction)	0.620
ATF5	CEBPA	psi-mi:“MI:0407”(direct interaction)	0.620
CEBPA	CEBPG	psi-mi:“MI:0407”(direct interaction)	0.620
BATF	CEBPA	psi-mi:“MI:0407”(direct interaction)	0.620
CEBPA	PARP1	psi-mi:“MI:0914”(association)	0.620
CEBPA	PARP1	psi-mi:“MI:0915”(physical association)	0.620
CEBPA	ATF4	psi-mi:“MI:0407”(direct interaction)	0.620
CEBPA	BATF	psi-mi:“MI:0407”(direct interaction)	0.620
CEBPA	ATF5	psi-mi:“MI:0407”(direct interaction)	0.620
CEBPA	E2	psi-mi:“MI:0915”(physical association)	0.600
E2	CEBPA	psi-mi:“MI:0407”(direct interaction)	0.600
CEBPA	E2	psi-mi:“MI:0407”(direct interaction)	0.600
CEBPB	CEBPA	psi-mi:“MI:0407”(direct interaction)	0.590
CEBPA	CEBPB	psi-mi:“MI:0407”(direct interaction)	0.590
CEBPA	ATF3	psi-mi:“MI:0407”(direct interaction)	0.590
CEBPA	CDX1	psi-mi:“MI:0915”(physical association)	0.580

BioGRID (1375): CEBPB (Reconstituted Complex), CEBPA (Reconstituted Complex), CEBPA (Two-hybrid), CDX1 (Affinity Capture-Western), CEBPA (FRET), KLF5 (Affinity Capture-Western), CEBPA (Affinity Capture-Western), KLF5 (Co-localization), CEBPA (Co-localization), NR1I2 (Affinity Capture-Western), CEBPA (Affinity Capture-Western), CEBPA (Affinity Capture-MS), CEBPA (Affinity Capture-Western), CEBPA (Two-hybrid), DDIT3 (Affinity Capture-Western)

ESM2 similar proteins: A0A8I6AGW3, A2A9A2, A6NMB9, A8MYZ6, E9PZZ1, J3QK54, O02755, O02756, O35392, O35767, O60548, O70220, P05554, P17676, P21272, P28033, P35713, P42582, P49715, P49716, P52952, P53566, P58012, Q12952, Q13461, Q14526, Q60843, Q61345, Q63244, Q63250, Q6BEB4, Q6VFT5, Q6VFT6, Q6ZQN5, Q70KY4, Q8IU81, Q8MIP2, Q8NDY6, Q8R2I0, Q98937

Diamond homologs: O02754, O02755, O02756, O77728, P05554, P17676, P21272, P26801, P28033, P49715, P49716, P53566, P53567, P53568, P56261, Q00322, Q02638, Q03484, Q05826, Q15744, Q3T0B9, Q6PZD9, Q9N0J3, Q8IG69, Q02637

SIGNOR signaling

67 interactions.

A	Effect	B	Mechanism
3-isobutyl-1-methylxanthine	up-regulates	CEBPA
MAPK1	down-regulates	CEBPA	phosphorylation
MAPK3	down-regulates	CEBPA	phosphorylation
HDAC1	“down-regulates quantity by repression”	CEBPA	“transcriptional regulation”
KLF3	“down-regulates quantity by repression”	CEBPA	“transcriptional regulation”
PCSK7	down-regulates	CEBPA	phosphorylation
3-isobutyl-1-methyl-7H-xanthine	up-regulates	CEBPA
HDAC1	down-regulates	CEBPA	“transcriptional regulation”
KLF3	down-regulates	CEBPA	“transcriptional regulation”
CEBPA	up-regulates	Differentiation
FLT3	“down-regulates quantity by repression”	CEBPA	“transcriptional regulation”
dexamethasone	up-regulates	CEBPA
GATA3	down-regulates	CEBPA	binding
INS	up-regulates	CEBPA
SMAD3/SMAD4	“down-regulates activity”	CEBPA	binding
CEBPA	“up-regulates quantity by expression”	ELANE	“transcriptional regulation”
CEBPA	“up-regulates quantity by expression”	HAMP	“transcriptional regulation”
CEBPA	“down-regulates quantity by repression”	MYC	“transcriptional regulation”
CEBPA	“up-regulates quantity by expression”	F9	“transcriptional regulation”
CEBPA	“up-regulates quantity by expression”	S100A9	“transcriptional regulation”
CEBPA	“up-regulates quantity by expression”	SFTPD	“transcriptional regulation”
CEBPA	“up-regulates quantity by expression”	STAR	“transcriptional regulation”
LEF1	“up-regulates quantity by expression”	CEBPA	“transcriptional regulation”
NR0B2	“down-regulates activity”	CEBPA	binding
AML1-ETO	“down-regulates activity”	CEBPA	binding
CEBPA	“up-regulates quantity”	CEBPA	“transcriptional regulation”
CEBPA	up-regulates	Granulocyte_differentiation
CEBPA	down-regulates	SOX4	“transcriptional regulation”
CEBPA	“up-regulates activity”	USF1	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 41 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Response of EIF2AK1 (HRI) to heme deficiency	6	129.8×	1e-09
ATF4 activates genes in response to endoplasmic reticulum stress	5	61.8×	3e-06
Response of EIF2AK4 (GCN2) to amino acid deficiency	5	16.8×	4e-04
Interleukin-4 and Interleukin-13 signaling	5	15.6×	6e-04
Signaling by Interleukins	5	9.7×	4e-03
Cellular responses to stress	8	8.9×	1e-04
Cellular responses to stimuli	8	7.6×	4e-04

GO biological processes:

GO term	Partners	Fold	FDR
integrated stress response signaling	11	203.3×	3e-21
positive regulation of miRNA transcription	5	38.2×	3e-05
response to endoplasmic reticulum stress	5	21.9×	4e-04
neuron differentiation	5	13.2×	2e-03
transcription by RNA polymerase II	6	11.1×	1e-03
DNA damage response	6	8.4×	3e-03
positive regulation of gene expression	6	6.1×	9e-03

Disease & clinical

Cancer significance

From CIViC — curated cancer-variant interpretation:

‘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.

From intOGen — cancer-driver classification: activating (oncogene-like) across 1 cancer types — AML.

Clinical variants and AI predictions

ClinVar

1261 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	42
Likely pathogenic	22
Uncertain significance	691
Likely benign	366
Benign	4

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1067813	NM_004364.5(CEBPA):c.60dup (p.Ser21fs)	Pathogenic
1338385	NM_004364.5(CEBPA):c.260_261dup (p.Gln88fs)	Pathogenic
1343787	NM_004364.5(CEBPA):c.292del (p.Thr98fs)	Pathogenic
1343791	NM_004364.5(CEBPA):c.146del (p.Pro49fs)	Pathogenic
1343793	NM_004364.5(CEBPA):c.180_183del (p.Ile62fs)	Pathogenic
1343795	NM_004364.5(CEBPA):c.174_184del (p.Glu59fs)	Pathogenic
1452019	NM_004364.5(CEBPA):c.125del (p.Pro42fs)	Pathogenic
1452838	NM_004364.5(CEBPA):c.69del (p.His24fs)	Pathogenic
1698770	NM_004364.5(CEBPA):c.209del (p.Pro70fs)	Pathogenic
1701953	NM_004364.5(CEBPA):c.1039G>A (p.Glu347Lys)	Pathogenic
1701955	NM_004364.5(CEBPA):c.314A>T (p.Asp105Val)	Pathogenic
17566	NM_004364.5(CEBPA):c.115_121del (p.Pro39fs)	Pathogenic
17567	NM_004364.5(CEBPA):c.148G>T (p.Glu50Ter)	Pathogenic
17569	NM_004364.5(CEBPA):c.935_991dup (p.Gln312_Gln330dup)	Pathogenic
17570	NM_004364.5(CEBPA):c.925_951dup (p.Glu309_Leu317dup)	Pathogenic
17571	NM_004364.5(CEBPA):c.211_214dup (p.Ala72fs)	Pathogenic
17572	NM_004364.5(CEBPA):c.68del (p.Pro23fs)	Pathogenic
2013328	NM_004364.5(CEBPA):c.324C>A (p.Tyr108Ter)	Pathogenic
21401	NM_004364.5(CEBPA):c.68dup (p.His24fs)	Pathogenic
2850044	NM_004364.5(CEBPA):c.179dup (p.Ser61fs)	Pathogenic
3370473	NM_004364.5(CEBPA):c.350del (p.Gly117fs)	Pathogenic
3643985	NM_004364.5(CEBPA):c.273_309delinsGGCCAGGGTCT (p.Lys92fs)	Pathogenic
408751	NM_004364.5(CEBPA):c.186_190del (p.Asp63fs)	Pathogenic
434686	NM_004364.5(CEBPA):c.119dup (p.Gln41fs)	Pathogenic
434688	NM_004364.5(CEBPA):c.332_339del (p.Ala111fs)	Pathogenic
4528372	NM_004364.5(CEBPA):c.63_64delinsA (p.Ser21fs)	Pathogenic
4719150	NM_004364.5(CEBPA):c.96del (p.Arg35fs)	Pathogenic
4722626	NM_004364.5(CEBPA):c.62del (p.Ser21fs)	Pathogenic
4729019	NM_004364.5(CEBPA):c.253dup (p.Ser85fs)	Pathogenic
4813132	NM_004364.5(CEBPA):c.134dup (p.Pro46fs)	Pathogenic

SpliceAI

13 predictions. Top by Δscore:

Variant	Effect	Δscore
19:33300287:C:CT	acceptor_gain	0.6900
19:33301287:C:CA	donor_gain	0.5700
19:33300485:AGGC:A	acceptor_gain	0.3900
19:33301354:ATGG:A	donor_gain	0.3200
19:33301361:TG:T	donor_gain	0.2900
19:33300288:A:T	acceptor_gain	0.2800
19:33301430:C:CT	donor_gain	0.2700
19:33301424:G:C	donor_gain	0.2600
19:33300977:C:G	acceptor_gain	0.2500
19:33300281:C:CT	acceptor_gain	0.2300
19:33300483:G:GA	acceptor_gain	0.2200
19:33300484:A:AA	acceptor_gain	0.2200
19:33301431:C:CT	donor_gain	0.2200

AlphaMissense

2313 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:33301390:A:G	F342S	1.000
19:33301402:A:G	L338P	1.000
19:33301402:A:T	L338Q	1.000
19:33301411:A:G	L335P	1.000
19:33301423:A:G	L331P	1.000
19:33301435:C:G	R327P	1.000
19:33301441:C:G	R325P	1.000
19:33301444:A:G	L324P	1.000
19:33301452:A:C	N321K	1.000
19:33301452:A:T	N321K	1.000
19:33301454:T:C	N321D	1.000
19:33301465:A:G	L317P	1.000
19:33301465:A:T	L317Q	1.000
19:33301483:T:G	Q311P	1.000
19:33301487:T:G	T310P	1.000
19:33301494:G:C	N307K	1.000
19:33301494:G:T	N307K	1.000
19:33301498:C:G	R306P	1.000
19:33301499:G:T	R306S	1.000
19:33301503:C:A	K304N	1.000
19:33301503:C:G	K304N	1.000
19:33301505:T:C	K304E	1.000
19:33301507:G:T	A303D	1.000
19:33301508:C:G	A303P	1.000
19:33301509:C:A	K302N	1.000
19:33301509:C:G	K302N	1.000
19:33301511:T:C	K302E	1.000
19:33301516:C:A	R300L	1.000
19:33301516:C:G	R300P	1.000
19:33301516:C:T	R300H	1.000

dbSNP variants (sampled 300 via entrez): RS1000572363 (19:33300673 T>C), RS1001388715 (19:33300534 C>A,T), RS1001507122 (19:33302070 G>A,C), RS1001679660 (19:33304083 A>C,G,T), RS1001741074 (19:33300372 G>A,T), RS1002344182 (19:33301565 C>A,G,T), RS1002682293 (19:33303122 C>T), RS1003520579 (19:33303987 G>C), RS1004965086 (19:33304157 A>G), RS1005079548 (19:33304481 G>A), RS1005626115 (19:33300393 C>T), RS1005968926 (19:33303139 G>A,C), RS1006079108 (19:33303238 C>A,G,T), RS1006154850 (19:33300807 C>A,G), RS1007194078 (19:33299491 T>A)

Disease associations

OMIM: gene MIM:116897 | disease phenotypes: MIM:601626

GenCC curated gene-disease

Disease	Classification	Inheritance
acute myeloid leukemia	Definitive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
acute myeloid leukemia	Definitive	AD

Mondo (2): acute myeloid leukemia (MONDO:0018874), hereditary neoplastic syndrome (MONDO:0015356)

Orphanet (2): Acute myeloid leukemia (Orphanet:519), Inherited cancer-predisposing syndrome (Orphanet:140162)

HPO phenotypes

3 total (3 of 3 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0001442	Typified by somatic mosaicism
HP:0004808	Acute myeloid leukemia

GWAS associations

58 associations (top):

Study	Trait	p-value
GCST002782_28	Waist-to-hip ratio adjusted for body mass index	9.000000e-07
GCST002782_29	Waist-to-hip ratio adjusted for body mass index	1.000000e-07
GCST002782_30	Waist-to-hip ratio adjusted for body mass index	7.000000e-12
GCST002782_31	Waist-to-hip ratio adjusted for body mass index	3.000000e-07
GCST002782_32	Waist-to-hip ratio adjusted for body mass index	5.000000e-07
GCST002782_33	Waist-to-hip ratio adjusted for body mass index	5.000000e-12
GCST004127_5	White blood cell count (basophil)	2.000000e-10
GCST004505_23	Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour)	2.000000e-06
GCST004567_109	Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction)	3.000000e-07
GCST004567_120	Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction)	1.000000e-08
GCST004567_132	Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction)	3.000000e-09
GCST004567_49	Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction)	3.000000e-09
GCST004576_16	Waist-to-hip ratio adjusted for body mass index	2.000000e-09
GCST004576_43	Waist-to-hip ratio adjusted for body mass index	8.000000e-11
GCST004576_86	Waist-to-hip ratio adjusted for body mass index	4.000000e-08
GCST004576_87	Waist-to-hip ratio adjusted for body mass index	4.000000e-09
GCST004578_46	Waist-to-hip ratio adjusted for BMI in active individuals	1.000000e-08
GCST004578_47	Waist-to-hip ratio adjusted for BMI in active individuals	1.000000e-09
GCST004578_5	Waist-to-hip ratio adjusted for BMI in active individuals	2.000000e-06
GCST004578_62	Waist-to-hip ratio adjusted for BMI in active individuals	1.000000e-06
GCST004578_83	Waist-to-hip ratio adjusted for BMI in active individuals	4.000000e-10
GCST005038_53	Allergic disease (asthma, hay fever or eczema)	6.000000e-18
GCST005976_24	White blood cell count (basophil)	3.000000e-13
GCST005996_8	Red blood cell count	5.000000e-08
GCST006409_11	Allergic rhinitis	6.000000e-13
GCST007798_110	Asthma	1.000000e-27
GCST007799_10	Asthma (adult onset)	3.000000e-18
GCST007800_45	Asthma (childhood onset)	3.000000e-29
GCST007993_1	Asthma (adult onset)	1.000000e-06
GCST007995_9	Asthma (childhood onset)	6.000000e-09

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0005090	basophil count
EFO:0004318	smoking behavior
EFO:0008002	physical activity measurement
EFO:0004305	erythrocyte count
EFO:1002011	adult onset asthma
EFO:0004344	birth weight
EFO:0004614	apolipoprotein A 1 measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D015470	Leukemia, Myeloid, Acute	C04.557.337.539.275; C15.378.508.539.275
D009386	Neoplastic Syndromes, Hereditary	C04.700; C16.320.700

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

Clinical evidence (CIViC)

Drug × variant × indication: 2 predictive associations from 2 curated evidence items; also 8 prognostic, 5 diagnostic.

Variant	Therapy	Indication	Effect	Level	CIViC
CEBPA Mutation	Tretinoin	Acute Myeloid Leukemia	Sensitivity/Response	CIViC B	EID122
CEBPA N-TERMINAL FRAME SHIFT	OICR-9429	Acute Myeloid Leukemia	Sensitivity/Response	CIViC D	EID1103

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

135 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Dexamethasone	decreases reaction, increases reaction, affects reaction, affects expression, affects cotreatment (+3 more)	10
bisphenol A	decreases reaction, increases expression, decreases expression, affects cotreatment, increases methylation (+1 more)	9
1-Methyl-3-isobutylxanthine	affects response to substance, decreases expression, decreases reaction, increases reaction, affects reaction (+3 more)	9
Benzo(a)pyrene	decreases expression, increases expression, increases methylation	6
sodium arsenite	decreases reaction, increases expression, decreases expression, increases abundance, affects cotreatment	5
Rosiglitazone	affects cotreatment, increases expression, increases reaction, affects reaction, decreases reaction	4
Hydrocortisone	decreases reaction, affects cotreatment, increases reaction, affects reaction, increases expression	4
Tetrachlorodibenzodioxin	increases expression, decreases expression	4
Tretinoin	decreases expression, affects expression, affects binding, decreases reaction, increases reaction (+3 more)	4
Valproic Acid	affects reaction, decreases expression, increases expression, decreases methylation, increases methylation	4
bisphenol S	affects cotreatment, increases expression, decreases expression	3
Arsenic Trioxide	decreases expression, increases expression	3
Troglitazone	affects cotreatment, increases expression, decreases reaction	3
Indomethacin	affects cotreatment, affects response to substance, decreases expression, decreases reaction, increases expression	3
Silicon Dioxide	decreases expression, increases expression	3
Cyclosporine	decreases expression	3
Aflatoxin B1	affects expression, decreases expression	3
Cadmium Chloride	decreases expression, increases abundance, increases expression	3
bisphenol F	affects cotreatment, increases expression	2
triphenyl phosphate	affects cotreatment, increases expression	2
deoxynivalenol	affects cotreatment, decreases expression	2
tributyltin	decreases reaction, increases expression	2
perfluorooctane sulfonic acid	affects expression, increases expression	2
T 0070907	decreases reaction, increases expression, decreases expression	2
Decitabine	affects methylation, decreases methylation	2
Ethanol	decreases expression, increases expression, increases reaction	2
Arsenic	affects binding, decreases reaction, decreases expression, increases abundance	2
Azacitidine	decreases methylation, increases expression	2
Estradiol	affects cotreatment, decreases expression	2
Dronabinol	decreases expression, increases expression	2

Cellosaurus cell lines

19 cell lines: 16 cancer cell line, 3 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_0614	Kasumi-6	Cancer cell line	Male
CVCL_A0P0	SEES3-1V human CEBPA, clone1	Embryonic stem cell	Male
CVCL_A0P1	SEES3-1V human CEBPA, clone2	Embryonic stem cell	Male
CVCL_A0P2	SEES3-1V human CEBPA, clone3	Embryonic stem cell	Male
CVCL_A647	MDS92	Cancer cell line	Male
CVCL_A8QV	MDS-L	Cancer cell line	Male
CVCL_A8QW	MDS-L/GFP-N	Cancer cell line	Male
CVCL_A8QX	MDS-L/GR-GFP-N	Cancer cell line	Male
CVCL_A8QY	MDS-L-2007	Cancer cell line	Male
CVCL_A8QZ	MDS-LGF	Cancer cell line	Male

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00199147	PHASE4	UNKNOWN	Efficacy of G-CSF-Priming in Elderly AML Patients
NCT00304447	PHASE4	COMPLETED	Study Evaluating the Effect of Corticosteroids on Mylotarg® Infusion-Related Adverse Events in Patients With Leukemia
NCT00464217	PHASE4	COMPLETED	Treatment of the Acute Myeloblastic Leukaemia in Patients Over 65 Years
NCT00487448	PHASE4	COMPLETED	SMD_FLAG-IDA_98: FLAG-IDA in Induction Treatment of High Risk Myelodysplastic Syndromes or Secondary Acute Myeloblastic Leukemia
NCT00488709	PHASE4	COMPLETED	Fludarabine, Cytarabine, Topotecan in Treating Patients With Relapsed or Refractory Acute Myeloid Leukemia
NCT00686543	PHASE4	COMPLETED	Oral Posaconazole in High Risk Patients With Gastrointestinal Dysfunction (Study P05115)
NCT01041040	PHASE4	COMPLETED	LAM07: Study to Analyze the Efficacy of a Risk Adapted Treatment Strategy, Including Gemtuzumab Ozogamicin (GO) During Consolidation, for Patients With Acute Myeloid Leukemia (AML)
NCT01198054	PHASE4	TERMINATED	LENA-LMA-5:Lenalidomide in Acute Myeloid Leukemia (AML)
NCT01200355	PHASE4	COMPLETED	Posaconazole Versus Micafungin for Prophylaxis Against Invasive Fungal Infections During Neutropenia in Patients Undergoing Chemotherapy for Acute Myelogenous Leukemia, Acute Lymphocytic Leukemia or Myelodysplastic Syndrome
NCT01347996	PHASE4	COMPLETED	Maintenance Therapy With Ceplene® (Histamine) and IL-2 on Immune Response and MRD in Acute Myeloid Leukemia
NCT01587430	PHASE4	UNKNOWN	3 Anthracyclines, 2 Types of Consolidation With Different ARA-C Doses and Maintenance in Adult Acute Myeloid Leukemia
NCT01819792	PHASE4	COMPLETED	Respiratory Viral Infections During Acute Myeloid Leukemia (AML)Chemotherapy Related Aplasia
NCT02024308	PHASE4	UNKNOWN	AML1-ETO Acute Myeloid Leukemia With Fludarabine and Cytarabine Chemotherapy
NCT02027064	PHASE4	UNKNOWN	Interferon for the Intervention of Molecular Relapse in t (8; 21) AML After Allo-HSCT
NCT02277847	PHASE4	UNKNOWN	Idarubicin at Different Dosages as Induction Therapy for Newly Diagnosed Acute Myeloid Leukaemia
NCT02386800	PHASE4	ACTIVE_NOT_RECRUITING	CINC424A2X01B Rollover Protocol
NCT02926586	PHASE4	COMPLETED	Fludarabine and Cytarabine Versus High-dose Cytarabine for CBF-AML
NCT02933333	PHASE4	UNKNOWN	G-CSF Alone or Combination With GM-CSF on Prevention and Treatment of Infection in Children With Malignant Tumor
NCT03026842	PHASE4	UNKNOWN	Decitabine Versus Conventional Chemotherapy for Maintenance Therapy of Acute Myeloid Leukemia With t(8;21)
NCT03150134	PHASE4	UNKNOWN	Early Tapering of Immunosuppressive Agents to Immunomodulation to Improve Survival of AML Patients
NCT05144243	PHASE4	ACTIVE_NOT_RECRUITING	Study to Assess Adverse Events and Change in Disease State of Oral Venetoclax in Combination With Subcutaneous (SC) Azacitidine in Newly Diagnosed Adult Participants With Acute Myeloid Leukemia (AML) Who Are Ineligible for Intensive Chemotherapy in China
NCT06370000	PHASE4	RECRUITING	Oral Azacitidine in Transplant-Eligible Patients With Acute Myeloid Leukemia (AML) Suffering From Health-Inequality
NCT06571825	PHASE4	RECRUITING	RIC Allo-HSCT vs. Venetoclax-Based Consolidation in Elderly AML Patients After First CR
NCT07016165	PHASE4	RECRUITING	Ciprofloxacin vs Ceftazidime for Empirical Treatment of High-Risk Neutropenic Fever in Children With Hematologic Malignancies
NCT07044687	PHASE4	RECRUITING	Study to Assess Adverse Events and Change in Disease Activity of Oral Venetoclax in Combination With Subcutaneous (SC) or Intravenous (IV) Azacitidine in Newly Diagnosed Adult Participants With Acute Myeloid Leukemia (AML) Who Are Ineligible for Standard Induction Therapy in India
NCT07486713	PHASE4	RECRUITING	Olutasidenib DDI Study in Patients With IDH1 Mutation Positive Malignancies
NCT07561892	PHASE4	RECRUITING	Study of the Effectiveness and Safety of Daunorubicin /Idarubicin ± Silibinin in Treating Newly Diagnosed AML (Non-M3).
NCT00000589	PHASE3	COMPLETED	Trial to Reduce Alloimmunization to Platelets (TRAP)
NCT00044486	PHASE3	COMPLETED	Prophylaxis Trial of Posaconazole Versus Standard Azole Therapy for Neutropenic Patients (Study P01899)
NCT00093990	PHASE3	COMPLETED	Tipifarnib Versus Best Supportive Care in the Treatment of Newly Diagnosed Acute Myeloid Leukemia (AML)
NCT00125606	PHASE3	TERMINATED	Phase 3 Trial for AML Patients in CR2 Comparing 8Gy TBI /Fludarabine to Conditioning With TBI 12Gy/Cyclophosphamide
NCT00136084	PHASE3	COMPLETED	Treatment of Patients With Newly Diagnosed Acute Myeloid Leukemia or Myelodysplasia
NCT00146120	PHASE3	COMPLETED	Risk-Adapted Therapy of Acute Myeloid Leukemia of Adults (18-60 Years) According to the Cytogenetic Result
NCT00150878	PHASE3	TERMINATED	Standard vs. Reduced-Intensity Conditioning in Patients With Acute Myeloid Leukemia in First Remission
NCT00151255	PHASE3	COMPLETED	All-Trans Retinoic Acid in Combination With Standard Induction and Consolidation Therapy in Older Patients With Newly Diagnosed Acute Myeloid Leukemia
NCT00152139	PHASE3	COMPLETED	Stem Cell Transplantation for Patients With Hematologic Malignancies
NCT00152594	PHASE3	TERMINATED	Voriconazole or Placebo in the Prophylaxis of Lung Infiltrates in Patients Undergoing Induction Chemotherapy for Acute Myelogenous Leukemia
NCT00186966	PHASE3	COMPLETED	Treatment of Children and Adolescents With Refractory or Relapsed Acute Myeloid Leukemia
NCT00226512	PHASE3	WITHDRAWN	To Determine the Role of Adding Campath-1H or ATG Given In-vivo in Addition to Fludarabine and Low Dose Busulfex on Outcome in Patients Treated With Reduced Intensity Conditioning
NCT00260832	PHASE3	COMPLETED	Trial of Decitabine in Patients With Acute Myeloid Leukemia