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CEBPZ

gene
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Also known as CBF2CTF2HSP-CBF

Summary

CEBPZ (CCAAT enhancer binding protein zeta, HGNC:24218) is a protein-coding gene on chromosome 2p22.2, encoding CCAAT/enhancer-binding protein zeta (Q03701). Stimulates transcription from the HSP70 promoter. It is a common-essential gene (DepMap: required in 93.3% of cancer cell lines).

This gene belongs to the CBF/Mak21 family. The encoded protein plays a role in cellular response to environmental stimuli through a transcriptional process that involves heat shock factors, conserved DNA elements (heat shock elements or HSEs) and CCAAT boxes. The protein acts as a DNA-binding transcriptional activator and regulates the heat-shock protein 70 (HSP70) promoter in a CCAAT-dependent manner. The protein is also involved in cell growth and differentiation, particularly, hematopoietic differentiation.

Source: NCBI Gene 10153 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 196 total
  • GTEx eGene: eQTL in 46 tissues, sQTL in 1 (q < 0.05)
  • Cancer dependency (DepMap): dependent in 93.3% of screened cell lines (common-essential)
  • Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.92 (unconstrained)
  • Transcription factor: yes — 20 downstream targets (CollecTRI)
  • MANE Select transcript: NM_005760
  • Interaction hub: 1,977 STRING partners (top 8% of genes corpus-wide)
  • Notable: 196 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:24218
Approved symbolCEBPZ
NameCCAAT enhancer binding protein zeta
Location2p22.2
Locus typegene with protein product
StatusApproved
AliasesCBF2, CTF2, HSP-CBF
Ensembl geneENSG00000115816
Ensembl biotypeprotein_coding
OMIM612828
Entrez10153

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 10 protein_coding, 5 nonsense_mediated_decay, 1 retained_intron

MANE Select: ENST00000234170

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 1, TSL 3: 1

ENST00000234170, ENST00000446769, ENST00000489306, ENST00000898578, ENST00000898579, ENST00000938546, ENST00000938547, ENST00000938548, ENST00000994133, ENST00001086106, ENST00001086107, ENST00001086109, ENST00001115050, ENST00001119818, ENST00001127289, ENST00001145026

RefSeq mRNA: 1 — MANE Select: NM_005760 NM_005760

CCDS: CCDS1787

Canonical transcript exons

ENST00000234170 — 16 exons

ExonStartEnd
ENSE000007472783721184337212039
ENSE000007472803721233537212392
ENSE000007472813721386437213961
ENSE000007472823721488637214952
ENSE000007472833721614037216208
ENSE000007472853721631637216418
ENSE000007472873721698437217037
ENSE000007472883722038537220473
ENSE000007472893722238037222563
ENSE000007472903722317037223401
ENSE000007472923722754437229036
ENSE000012826303723141237231596
ENSE000013907743720161237201903
ENSE000035029843720295037203008
ENSE000036162423720278437202865
ENSE000036712043721099937211082

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 97.56.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 40.1153 / max 997.1908, expressed in 1802 samples.

Highest expression (Bgee): calcaneal tendon, tendon, tendon of biceps brachii, ventricular zone, adrenal tissue.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CEBPZ is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 46 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 47 significant tissue × QTL associations:

TissueQTLq-valueSlopeLead variant
Cells EBV-transformed lymphocyteseqtl5.4e-45-0.512:37231568:G:A
Nerve Tibialeqtl9.7e-44-0.302:37231568:G:A
Cells Cultured fibroblastseqtl2.9e-39-0.202:37231568:G:A
Thyroideqtl5.1e-37-0.282:37231568:G:A
Skin Sun Exposed Lower legeqtl6.3e-37-0.242:37299694:A:C
Testiseqtl9.5e-33-0.292:37231568:G:A
Adipose Subcutaneouseqtl2.6e-30-0.262:37231568:G:A
Skin Not Sun Exposed Suprapubiceqtl1.5e-27-0.222:37239539:A:G
Esophagus Mucosaeqtl1.7e-27-0.192:37231568:G:A
Breast Mammary Tissueeqtl6.4e-25-0.282:37231568:G:A
Muscle Skeletaleqtl3.8e-23-0.162:37231568:G:A
Artery Tibialeqtl3.8e-23-0.232:37231568:G:A
Lungeqtl8.5e-22-0.212:37272146:T:C
Adipose Visceral Omentumeqtl1.7e-21-0.172:37233557:G:A
Esophagus Musculariseqtl1.4e-19-0.182:37231568:G:A
Colon Sigmoideqtl1.8e-17-0.222:37227075:C:G
Brain Spinal cord cervical c-1eqtl3.0e-15-0.482:37294707:G:C
Pancreaseqtl1.6e-14-0.252:37231568:G:A
Esophagus Gastroesophageal Junctioneqtl2.0e-14-0.192:37239539:A:G
Ovaryeqtl1.5e-13-0.312:37231568:G:A

FANTOM5 promoters

1 alternative TSS:

Promoter IDTPM avgSamples expressed
2777340.11531802

Top tissues by expression

showing 100 of 295 tissues by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
calcaneal tendonUBERON:000370197.56gold quality
tendonUBERON:000004397.38gold quality
tendon of biceps brachiiUBERON:000818897.28gold quality
ventricular zoneUBERON:000305395.32gold quality
adrenal tissueUBERON:001830395.24gold quality
medial globus pallidusUBERON:000247794.79gold quality
left testisUBERON:000453394.12gold quality
gastrocnemiusUBERON:000138894.02gold quality
testisUBERON:000047393.97gold quality
right testisUBERON:000453493.88gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047393.72gold quality
colonic epitheliumUBERON:000039793.63gold quality
pericardiumUBERON:000240793.40gold quality
ganglionic eminenceUBERON:000402393.38gold quality
body of pancreasUBERON:000115093.32gold quality
islet of LangerhansUBERON:000000693.29gold quality
muscle of legUBERON:000138393.28gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451193.25gold quality
parietal pleuraUBERON:000240093.11gold quality
cervix squamous epitheliumUBERON:000692293.04gold quality
right adrenal gland cortexUBERON:003582793.01gold quality
endothelial cellCL:000011592.97gold quality
adrenal cortexUBERON:000123592.89gold quality
cranial nerve IIUBERON:000094192.85gold quality
adrenal glandUBERON:000236992.85gold quality
globus pallidusUBERON:000187592.83gold quality
pancreasUBERON:000126492.81gold quality
hindlimb stylopod muscleUBERON:000425292.80gold quality
left adrenal glandUBERON:000123492.77gold quality
mucosa of transverse colonUBERON:000499192.75gold quality
right adrenal glandUBERON:000123392.72gold quality
left adrenal gland cortexUBERON:003582592.71gold quality
pleuraUBERON:000097792.51gold quality
muscle organUBERON:000163092.39gold quality
visceral pleuraUBERON:000240192.30gold quality
cortical plateUBERON:000534392.17gold quality
amniotic fluidUBERON:000017392.13gold quality
ovaryUBERON:000099292.02gold quality
endometriumUBERON:000129591.88gold quality
left ovaryUBERON:000211991.86gold quality
left uterine tubeUBERON:000130391.83gold quality
mucosa of sigmoid colonUBERON:000499391.83gold quality
adenohypophysisUBERON:000219691.82gold quality
right ovaryUBERON:000211891.69gold quality
sigmoid colonUBERON:000115991.65gold quality
adipose tissue of abdominal regionUBERON:000780891.64gold quality
peritoneumUBERON:000235891.63gold quality
omental fat padUBERON:001041491.62gold quality
muscle layer of sigmoid colonUBERON:003580591.62gold quality
cartilage tissueUBERON:000241891.38gold quality
right lungUBERON:000216791.35gold quality
biceps brachiiUBERON:000150791.25gold quality
monocyteCL:000057691.23gold quality
connective tissueUBERON:000238491.21gold quality
blood vessel layerUBERON:000479791.14gold quality
adipose tissueUBERON:000101391.09gold quality
tibial nerveUBERON:000132391.07gold quality
tonsilUBERON:000237291.05gold quality
olfactory segment of nasal mucosaUBERON:000538691.04gold quality
mononuclear cellCL:000084290.96gold quality
colonic mucosaUBERON:000031790.96gold quality
ectocervixUBERON:001224990.95gold quality
leukocyteCL:000073890.86gold quality
upper lobe of left lungUBERON:000895290.81gold quality
cauda epididymisUBERON:000436090.80gold quality
colonUBERON:000115590.78gold quality
large intestineUBERON:000005990.70gold quality
esophagogastric junction muscularis propriaUBERON:003584190.69gold quality
choroid plexus epitheliumUBERON:000391190.68gold quality
embryoUBERON:000092290.62gold quality
uterusUBERON:000099590.62gold quality
rectumUBERON:000105290.58gold quality
esophagus squamous epitheliumUBERON:000692090.58gold quality
upper lobe of lungUBERON:000894890.58gold quality
female reproductive systemUBERON:000047490.56gold quality
parotid glandUBERON:000183190.55gold quality
pituitary glandUBERON:000000790.53gold quality
esophagus mucosaUBERON:000246990.52gold quality
mucosa of paranasal sinusUBERON:000503090.51gold quality
intestineUBERON:000016090.48gold quality
superior surface of tongueUBERON:000737190.48gold quality
tibial arteryUBERON:000761090.48gold quality
popliteal arteryUBERON:000225090.46gold quality
subcutaneous adipose tissueUBERON:000219090.43gold quality
esophagusUBERON:000104390.40gold quality
right lobe of liverUBERON:000111490.39gold quality
pigmented layer of retinaUBERON:000178290.36gold quality
transverse colonUBERON:000115790.30gold quality
small intestine Peyer’s patchUBERON:000345490.28gold quality
saphenous veinUBERON:000731890.28gold quality
skeletal muscle tissueUBERON:000113490.25gold quality
body of uterusUBERON:000985390.24gold quality
prostate glandUBERON:000236790.22gold quality
vaginaUBERON:000099690.20gold quality
trabecular bone tissueUBERON:000248390.17gold quality
lower esophagus muscularis layerUBERON:003583390.16gold quality
oral cavityUBERON:000016790.15gold quality
deltoidUBERON:000147690.13silver quality
lower esophagusUBERON:001347390.12gold quality
vena cavaUBERON:000408790.08silver quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes10.20
E-MTAB-4850no673.52
E-CURD-135no480.50

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 76 HPA tissues / cells by nTPM:

Tissue / cellAxisnTPM
Testistissue35.9
Bone marrowtissue29.5
Corpus callosumtissue28.1
Adrenal glandtissue26.3
Midbraintissue25.3
Livertissue25.3
Thalamustissue25.2
Spinal cordtissue25.2
Urinary bladdertissue24.8
Breasttissue24.5
Ponstissue24.4
Superior colliculitissue24.4
Putamentissue23.8
Medulla oblongatatissue23.8
Kidneytissue23.7
Choroid plexustissue23.3
Hippocampal formationtissue23.3
Lymph nodetissue23.0
Tonsiltissue22.9
Tonguetissue22.7
Retinatissue22.6
Substantia nigratissue22.6
Thymustissue22.4
Cerebellumtissue22.1
Ovarytissue21.8
Placentatissue21.6
Periaqueductal graytissue21.2
Septumtissue21.1
Parathyroid glandtissue21.0
Thyroid glandtissue20.9
Ventral forebraintissue20.5
Cerebral cortextissue20.4
Skeletal muscletissue20.4
Hypothalamustissue20.4
Somatosensory cortextissue20.4
Occipital cortextissue20.3
Nucleus accumbenstissue20.1
Postcentral gyrustissue19.9
Olfactory bulbtissue19.8
Adipose tissuetissue19.7
Pancreastissue19.5
Esophagustissue19.2
Locus coeruleustissue19.1
Entorhinal cortextissue19.0
Rectumtissue18.8
Endometrium 1tissue18.8
Epididymistissue18.8
Basal gangliatissue18.8
Spleentissue18.7
Prostatetissue18.5
Prefrontal cortextissue18.4
Colontissue18.3
Motor cortextissue18.3
Lungtissue18.2
Retrosplenial and cingulate cortextissue18.1
Appendixtissue17.9
Temporal cortextissue17.9
Retrosplenial cortextissue17.6
Small intestinetissue17.0
Cervixtissue16.9

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Cerebellar cortex (31.1), Flocculonodular lobe (29.1), Vermis (28.8), White matter (28.1), Corpus callosum, splenium (white matter) (27.0).

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

20 targets:

TargetRegulation
ALOX12
APCActivation
CDKN1A
COL10A1
COL11A1Repression
COL1A2Unknown
COL5A3Activation
CPUnknown
CYBB
ERVW-1
FAS
GZMBUnknown
HSPA4Activation
IL3
MLH1Repression
PDLIM7Activation
SOX9Unknown
THBS1
TP73
TPM1

JASPAR motifs

MotifNameFamily
UN0800.1CEBPZCEBP-related

Upstream regulators (CollecTRI, top): JUND, RBPJ, TCF3

miRNA regulators (miRDB)

Targeting CEBPZ by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

18 miRNAs:

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-524-5P99.9873.434882
HSA-MIR-548P99.9872.253784
HSA-MIR-590-3P99.9674.346478
HSA-MIR-545-3P99.9570.742783
HSA-MIR-1-3P99.9372.351914
HSA-MIR-20699.9372.501893
HSA-MIR-61399.9171.501710
HSA-MIR-556-3P99.7468.751203
HSA-MIR-3120-3P99.5470.282669
HSA-MIR-612899.3367.831581
HSA-MIR-10399-5P99.1769.872610
HSA-MIR-6504-3P99.1769.312891
HSA-MIR-181A-2-3P98.9167.601168
HSA-MIR-6509-3P98.3267.331343
HSA-MIR-569497.0667.70682
HSA-MIR-758-5P93.9964.46534

Functional genomics

gnomAD constraint: pLI 3.64e-14, LOEUF 0.923, missense Z -1.63 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000234170 — one region, missense o/e 1.17. DepMap (CRISPR cell-line fitness): dependent in 93.3% of screened cell lines, common-essential.

Most-dependent cell lines (DepMap gene-effect, lower = stronger; ≤ −0.5 shown): PA-TU-8988T (-1.818), OCI-AML2 (-1.745), NOMO-1 (-1.666), C32 (-1.664), G-402 (-1.64), SCC-25 (-1.632), SF539 (-1.57), TM-87 (-1.56), NCI-H1792 (-1.544), KE-97 (-1.499), KP-4 (-1.499), U-87 MG (-1.44), M059K (-1.422), BHT-101 (-1.361), OPM-2 (-1.359).

Literature-anchored findings (GeneRIF, showing 1)

  • Mouse and Human CCAAT binding factors are discussed in this citation. (PMID:8604343)

Cross-species orthologs

6 orthologs

OrganismSymbolGene ID
danio_reriocebpzENSDARG00000045857
danio_reriosi:ch1073-412h12.3ENSDARG00000094486
mus_musculusCebpzENSMUSG00000024081
rattus_norvegicusCebpzENSRNOG00000005087
drosophila_melanogasterNoc1FBGN0036124
caenorhabditis_elegansWBGENE00009084

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:109386) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 1 distinct phenotype terms.

Mouse phenotype (MP)Records
increased total body fat amount1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

OrganismUniProtIdentityMethod
Saccharomyces cerevisiae S288CQ1217641.1%Diamond
Schizosaccharomyces pombe 972h-O3602140.1%Diamond
Thermochaetoides thermophila DSM 1495G0SEQ538.8%Diamond
Arabidopsis thalianaF4IDC233.8%Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

SymbolTypeEntrez
CEBPZOSprotein-coding100505876
PRKD3protein-coding23683
GPATCH11protein-coding253635
SULT6B1protein-coding391365
NDUFAF7protein-coding55471
EIF2AK2protein-coding5610
PRKD3-DTncRNA101929542
QPCTprotein-coding25797
HEATR5Bprotein-coding54497
STRNprotein-coding6801

Protein

Protein identifiers

CCAAT/enhancer-binding protein zeta — Q03701 (reviewed: Q03701)

Alternative names: CCAAT-box-binding transcription factor

All UniProt accessions (2): C9J9W7, Q03701

UniProt curated annotations — full annotation on UniProt →

Function. Stimulates transcription from the HSP70 promoter.

Subcellular location. Nucleus.

Similarity. Belongs to the CBF/MAK21 family.

RefSeq proteins (1): NP_005751* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR005612CCAAT-binding_factorDomain
IPR016024ARM-type_foldHomologous_superfamily
IPR040155CEBPZ/Mak21-likeFamily

Pfam: PF03914

UniProt features (24 total): modified residue 7, compositionally biased region 6, region of interest 5, sequence variant 4, chain 1, sequence conflict 1

Structure

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q03701-F167.340.15

Human Protein Atlas

Protein class: Predicted intracellular proteins, Essential proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm; vesicles

Antibody reliability (HPA): IH uncertain · IF supported

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 (7)

TypePositions
Phosphoserine113, 629, 835, 959, 973, 978
N6-acetyllysine695

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 154 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, MODULE_255, MODULE_317, MORF_HDAC2, PUJANA_CHEK2_PCC_NETWORK, SCHUHMACHER_MYC_TARGETS_UP, MUELLER_PLURINET, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, MORF_RFC4, ACATTCC_MIR1_MIR206, MORF_PRKDC, GARY_CD5_TARGETS_DN

GO Biological Process (2): DNA-templated transcription (GO:0006351), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (3): transcription coactivator activity (GO:0003713), RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), CCAAT-binding factor complex (GO:0016602)

GO top-level categories

12 GO namespaces:

CategoryTerms
positive regulation of DNA-templated transcription2
gene expression1
RNA biosynthetic process1
regulation of transcription by RNA polymerase II1
transcription by RNA polymerase II1
transcription coregulator activity1
nucleic acid binding1
binding1
intracellular membrane-bounded organelle1
nuclear lumen1
cellular anatomical structure1
RNA polymerase II transcription regulator complex1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 5 of 8 annotations. The rest are phylogenetic / computational / electronic (IEA).

5 experimentally-supported GO terms:

GO termNSEvidence
positive regulation of transcription by RNA polymerase IIBPdirect assay
nucleoplasmCCdirect assay
nucleusCCdirect assay
RNA bindingMFhigh-throughput assay
transcription coactivator activityMFgenetic interaction

Protein interactions and networks

STRING

showing 15 of 1,977 interactions by confidence (×1000):

Protein AProtein BPartner UniProtScore
CEBPZRBPJQ06330908
CEBPZCDC42EP3Q9UKI2768
CEBPZSKP1P34991750
CEBPZCETN1Q12798735
CEBPZCTF1Q16619715
CEBPZPDCD11Q14690695
CEBPZRPH3ALQ9UNE2654
CEBPZNSA2O95478593
CEBPZGNL2Q13823585
CEBPZWDR12Q9GZL7585
CEBPZWDR74Q6RFH5576
CEBPZURB1O60287559
CEBPZMYBP10242538
CEBPZICE1Q9Y2F5538
CEBPZCDH2P19022534

IntAct

Human interaction partners of CEBPZ in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

20 partners by confidence:

PartnerInteraction typeMIscoreRecords
GSK3Bphysical association0.5501
PRKRAphysical association0.5501
TP53physical association0.5202
MFHAS1direct interaction0.4401
TP73physical association0.4002
PROX1physical association0.4001
SF3B2physical association0.4001
TMF1physical association0.4001
HMOX2physical association0.3701
LAMTOR3physical association0.3701
LTB4R2physical association0.3701
LZTR1physical association0.3701
PCBD1physical association0.3701
RPS6KA6physical association0.3701
RXRGphysical association0.3701
STAT6physical association0.3701
UBE3Aphysical association0.3701
YY1AP1association0.3502
CBFBphysical association0.0001
MYCphysical association0.0001

BioGRID (331 interactions; top human partners by supporting records): NOC2L (Co-fractionation; 4 records), EGFR (Affinity Capture-MS; 3 records), FMR1NB (Affinity Capture-MS; 3 records), NPM1 (Affinity Capture-MS; 3 records), RRP8 (Affinity Capture-MS; 3 records), THAP7 (Affinity Capture-MS; 3 records), VAPB (Affinity Capture-MS; 3 records), WDR46 (Affinity Capture-MS; 3 records), ADARB1 (Affinity Capture-MS; 2 records), ANLN (Affinity Capture-MS; 2 records), APEX1 (Affinity Capture-RNA; 2 records), CCDC59 (Affinity Capture-MS; 2 records), EBNA1BP2 (Co-fractionation; 2 records), FBL (Proximity Label-MS; 2 records), FGF3 (Affinity Capture-MS; 2 records)

Disease & clinical

Genetic variants

Variant evidence for CEBPZ: 196 ClinVar records (0 pathogenic / likely pathogenic); 1 GWAS association.

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance163
Likely benign12
Benign2

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 39 predictions of 1,200):

Position(s)EffectΔscoreSites
2:37202782–37202783donor_loss1.00004
2:37202866–37202867acceptor_loss1.00004
2:37202867–37202869acceptor_gain1.00002
2:37202948–37202949donor_loss1.00005
2:37203009–37203010acceptor_loss1.00003
2:37211842donor_loss1.00002
2:37212040–37212041acceptor_loss1.00004
2:37214884–37214885donor_loss1.00005
2:37214953–37214954acceptor_loss1.00005
2:37216138–37216139donor_loss1.00005

AlphaMissense

1,456 missense substitutions predicted likely pathogenic (of 7,109 scored), across 426 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

ResidueLikely-pathogenic substitutionsMean am_pathogenicityMax am_pathogenicity
M41690.8380.972
D24680.9730.992
D57780.9620.991
F75580.9620.998
H72480.9570.995
D74980.9470.982
D39380.9430.989
F75980.9370.994
F46980.9150.976
D5480.8930.953
D75780.8930.972
H41380.8880.985
H72280.8620.964
F30780.7850.937
W101570.9700.993
F73070.9560.981
F51270.9550.981
R58970.9510.994
W23470.9430.989
E71570.9420.981

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

5 prognostic cancer types:

CancerPrognosticp-value
Kidney Renal Clear Cell Carcinoma (TCGA)favorable1.61e-07
Pancreatic Adenocarcinoma (validation)unfavorable4.28e-05
Rectum Adenocarcinoma (TCGA)favorable0.000248
Liver Hepatocellular Carcinoma (validation)unfavorable0.000326
Liver Hepatocellular Carcinoma (TCGA)unfavorable0.000955

Disease associations

OMIM: gene MIM:612828 | disease phenotypes:

GWAS associations

1 associations:

StudyTraitp-value
GCST002149_12Schizophrenia7e-9

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067231 (SINGLE PROTEIN)

PharmGKB: 1 entry (CPIC guideline: no)

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
5.49Kd3243nMCHEMBL3752910
5.49ED503243nMCHEMBL3752910

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

CompoundAssayTypeValueUnit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide2149838: Binding affinity to human CEBPZ incubated for 45 mins by Kinobead based pull down assaykd3.2431uM

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
entinostataffects cotreatment, increases expression2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression, increases expression2
Estradiolincreases expression, affects cotreatment, decreases expression2
Tretinoindecreases expression, increases expression2
Valproic Aciddecreases expression2
Cyclosporineincreases expression2
aristolochic acid Idecreases expression1
FR900359increases phosphorylation1
TAK-243decreases sumoylation1
dicrotophosdecreases expression1
triphenyl phosphateaffects expression1
bisphenol Adecreases expression1
dorsomorphinaffects cotreatment, increases expression1
jinfukangdecreases expression1
LDN 193189affects cotreatment, decreases expression1
Temozolomideincreases expression1
Arsenic Trioxideincreases expression1
Air Pollutantsdecreases expression, increases abundance1
Camptothecindecreases expression1
Daunorubicindecreases expression1
Dichlorodiphenyl Dichloroethyleneincreases expression1
Bucladesineaffects cotreatment, decreases expression1
Dinitrochlorobenzeneaffects binding1
Etoposidedecreases expression1
Ivermectindecreases expression1
Polychlorinated Biphenylsaffects expression1
Ribonucleotidesaffects binding1
Tetrachlorodibenzodioxindecreases expression1
Tobacco Smoke Pollutionincreases expression1
Aflatoxin M1decreases expression1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL5652880BindingBinding affinity to human CEBPZ incubated for 45 mins by Kinobead based pull down assayNVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — *ChemMedChem*

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for CEBPZ across ~30M SureChEMBL compounds — explore on Sugi Predict.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.