CEBPG
gene geneOn this page
Also known as GPE1BPIG/EBP-1
Summary
CEBPG (CCAAT enhancer binding protein gamma, HGNC:1837) is a protein-coding gene on chromosome 19q13.11, encoding CCAAT/enhancer-binding protein gamma (P53567). Transcription factor that binds to the promoter and the enhancer regions of target genes.
The C/EBP family of transcription factors regulates viral and cellular CCAAT/enhancer element-mediated transcription. C/EBP proteins contain the bZIP region, which is characterized by two motifs in the C-terminal half of the protein: a basic region involved in DNA binding and a leucine zipper motif involved in dimerization. The C/EBP family consist of several related proteins, C/EBP alpha, C/EBP beta, C/EBP gamma, and C/EBP delta, that form homodimers and that form heterodimers with each other. CCAAT/enhancer binding protein gamma may cooperate with Fos to bind PRE-I enhancer elements. Two transcript variants encoding the same protein have been found for this gene.
Source: NCBI Gene 1054 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 28 total — 1 pathogenic
- Transcription factor: yes — 220 downstream targets (CollecTRI)
- MANE Select transcript:
NM_001806
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1837 |
| Approved symbol | CEBPG |
| Name | CCAAT enhancer binding protein gamma |
| Location | 19q13.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GPE1BP, IG/EBP-1 |
| Ensembl gene | ENSG00000153879 |
| Ensembl biotype | protein_coding |
| OMIM | 138972 |
| Entrez | 1054 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 8 protein_coding, 1 nonsense_mediated_decay
ENST00000284000, ENST00000585933, ENST00000652630, ENST00000893394, ENST00000893395, ENST00000893396, ENST00000893397, ENST00000917803, ENST00000917804
RefSeq mRNA: 2 — MANE Select: NM_001806
NM_001252296, NM_001806
CCDS: CCDS12432
Canonical transcript exons
ENST00000284000 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001012842 | 33379144 | 33382686 |
| ENSE00003847339 | 33373709 | 33373895 |
Expression profiles
Bgee: expression breadth ubiquitous, 285 present calls, max score 96.02.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.0427 / max 339.7998, expressed in 1813 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 175084 | 30.7285 | 1810 |
| 175083 | 1.9423 | 1044 |
| 175086 | 0.9071 | 407 |
| 175088 | 0.2004 | 84 |
| 175085 | 0.1599 | 79 |
| 175087 | 0.1045 | 37 |
Top tissues by expression
297 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 96.02 | gold quality |
| colonic mucosa | UBERON:0000317 | 94.35 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 94.29 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 93.50 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 93.47 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 93.03 | gold quality |
| gingival epithelium | UBERON:0001949 | 92.94 | gold quality |
| body of tongue | UBERON:0011876 | 92.94 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 92.87 | gold quality |
| jejunum | UBERON:0002115 | 92.60 | gold quality |
| jejunal mucosa | UBERON:0000399 | 92.54 | gold quality |
| gastrocnemius | UBERON:0001388 | 92.43 | gold quality |
| biceps brachii | UBERON:0001507 | 92.34 | gold quality |
| muscle of leg | UBERON:0001383 | 92.23 | gold quality |
| gingiva | UBERON:0001828 | 92.18 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 91.97 | gold quality |
| rectum | UBERON:0001052 | 91.96 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 91.95 | gold quality |
| medial globus pallidus | UBERON:0002477 | 91.82 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.54 | gold quality |
| upper leg skin | UBERON:0004262 | 90.96 | gold quality |
| duodenum | UBERON:0002114 | 90.80 | gold quality |
| islet of Langerhans | UBERON:0000006 | 90.71 | gold quality |
| monocyte | CL:0000576 | 90.65 | gold quality |
| mammalian vulva | UBERON:0000997 | 90.26 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 90.26 | gold quality |
| globus pallidus | UBERON:0001875 | 90.22 | gold quality |
| mononuclear cell | CL:0000842 | 90.21 | gold quality |
| cortical plate | UBERON:0005343 | 90.06 | gold quality |
| squamous epithelium | UBERON:0006914 | 90.05 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7249 | yes | 11.45 |
| E-GEOD-124858 | no | 122.72 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
220 targets.
| Target | Regulation |
|---|---|
| ABCC2 | |
| ABCC3 | |
| ADAM2 | |
| ADAMTS4 | |
| ADH1B | |
| ADH1C | |
| ADH4 | |
| ADIPOQ | |
| ADRA1D | |
| AFP | |
| AGT | Unknown |
| AHSG | |
| AKR1A1 | |
| AKR1B10 | |
| AKR1B15 | |
| ALB | |
| ALDH2 | |
| ALDOB | |
| ALOX5AP | Repression |
| APOA1 | |
| APOA2 | Activation |
| APOB | |
| APOC3 | |
| APOE | |
| APP | |
| ASNS | Unknown |
| ATF3 | |
| AVP | |
| BAK1 | |
| BCL2 |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0838.1 | CEBPG | CEBP-related |
| MA1636.1 | CEBPG | CEBP-related |
| MA1636.2 | CEBPG | CEBP-related |
JASPAR matrix evidence (PMIDs): PMID:8632009, PMID:21543584
Upstream regulators (CollecTRI, top): CEBPB, IRF6
miRNA regulators (miRDB)
115 targeting CEBPG, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| 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-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
Literature-anchored findings (GeneRIF, showing 11)
- Ig/EBP (C/EBPgamma)is constitutively multiubiquitinated & then degraded by the proteasome. Ubiquitination and degradation are suppressed by forming dimers through the leucine zipper domains. (PMID:12618752)
- CEBPG is the transcription factor primarily responsible for regulating transcription of key antioxidant and DNA repair genes in non-bronchogenic carcinoma individuals (PMID:16255782)
- CEBPG regulates ERCC5 expression and this regulation is modified by E2F1/YY1 interactions. (PMID:17893230)
- C/EBPgamma positively regulates wound repair both in vitro and in vivo, at least in part, by affecting EGFR signaling. (PMID:22437320)
- CEBPG mediates the myeloid differentiation arrest induced by CEBPA deficiency in acute myeloid leukemia. (PMID:23160200)
- High CEBPG expression correlated with poorer clinical prognoses in several human cancers, and C/EBP gamma depletion decreased proliferation and induced senescence in lung tumor cells. (PMID:23775115)
- HIV-1 Tat-mediated induction of CCL5 in astrocytes involves NF-kappaB, AP-1, C/EBPalpha and C/EBPgamma transcription factors and JAK, PI3K/Akt and p38 MAPK signaling pathways (PMID:24244375)
- These findings suggest that CEBPG may play an oncogenic role in BCP-ALL and relies on a mechanism different from CEBPA. (PMID:25669928)
- The study aimed to identify a small set of genetic signatures that may reliably predict the individuals with a high genetic propensity to heroin addiction. A set of 4 genes (JUN, CEBPB, PRKCB, ENO2, or CEBPG) could predict the diagnosis of heroin addiction with the accuracy rate around 85% in our dataset. (PMID:27495086)
- C/EBPgamma is a critical negative regulator of LPS-/IgG immune complex-induced acute lung injury through the downregulation of C/EBPbeta-/C/EBPdelta-dependent C/EBP transcription activation. (PMID:32786052)
- C/EBP-Family Redundancy Determines Patient Survival and Lymph Node Involvement in PDAC. (PMID:36675048)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Cebpg | ENSMUSG00000056216 |
| rattus_norvegicus | Cebpg | ENSRNOG00000021144 |
Paralogs (4): CEBPE (ENSG00000092067), CEBPB (ENSG00000172216), CEBPD (ENSG00000221869), CEBPA (ENSG00000245848)
Protein
Protein identifiers
CCAAT/enhancer-binding protein gamma — P53567 (reviewed: P53567)
All UniProt accessions (1): P53567
UniProt curated annotations — full annotation on UniProt →
Function. Transcription factor that binds to the promoter and the enhancer regions of target genes. Binds to the enhancer element PRE-I (positive regulatory element-I) of the IL-4 gene. Binds to the promoter and the enhancer of the immunoglobulin heavy chain. Binds to GPE1, a cis-acting element in the G-CSF gene promoter.
Subunit / interactions. Binds DNA as a dimer and can form stable heterodimers with CEBPA and CEBPB. Interacts with ZNF638; this interaction increases transcriptional activation.
Subcellular location. Nucleus.
Similarity. Belongs to the bZIP family. C/EBP subfamily.
RefSeq proteins (2): NP_001239225, NP_001797* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004827 | bZIP | Domain |
| IPR031106 | C/EBP | Family |
| IPR046347 | bZIP_sf | Homologous_superfamily |
Pfam: PF07716
UniProt features (8 total): region of interest 3, compositionally biased region 2, chain 1, domain 1, cross-link 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P53567-F1 | 76.64 | 0.48 |
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 (1): 3
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-380994 | ATF4 activates genes in response to endoplasmic reticulum stress |
| R-HSA-9633012 | Response of EIF2AK4 (GCN2) to amino acid deficiency |
| R-HSA-9648895 | Response of EIF2AK1 (HRI) to heme deficiency |
| R-HSA-2262752 | Cellular responses to stress |
| R-HSA-381042 | PERK regulates gene expression |
| R-HSA-381119 | Unfolded Protein Response (UPR) |
| R-HSA-8953897 | Cellular responses to stimuli |
| R-HSA-9711097 | Cellular response to starvation |
MSigDB gene sets: 270 (showing top):
GOBP_MYELOID_CELL_DIFFERENTIATION, GSE45365_NK_CELL_VS_CD8_TCELL_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, REACTOME_UNFOLDED_PROTEIN_RESPONSE_UPR, GOBP_MYELOID_CELL_HOMEOSTASIS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_B_CELL_ACTIVATION, HOFMANN_CELL_LYMPHOMA_UP, ENK_UV_RESPONSE_KERATINOCYTE_UP, BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GOBP_ERYTHROCYTE_HOMEOSTASIS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN
GO Biological Process (16): liver development (GO:0001889), DNA-templated transcription (GO:0006351), regulation of transcription by RNA polymerase II (GO:0006357), immune response (GO:0006955), mRNA metabolic process (GO:0016071), B cell differentiation (GO:0030183), positive regulation of type II interferon production (GO:0032729), natural killer cell mediated cytotoxicity (GO:0042267), enucleate erythrocyte differentiation (GO:0043353), positive regulation of DNA binding (GO:0043388), obsolete negative regulation of DNA-binding transcription factor activity (GO:0043433), positive regulation of DNA repair (GO:0045739), positive regulation of transcription by RNA polymerase II (GO:0045944), obsolete positive regulation of DNA-binding transcription factor activity (GO:0051091), integrated stress response signaling (GO:0140467), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (10): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), identical protein binding (GO:0042802), sequence-specific DNA binding (GO:0043565), DNA-binding transcription factor binding (GO:0140297), sequence-specific double-stranded DNA binding (GO:1990837), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)
GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), RNA polymerase II transcription regulator complex (GO:0090575)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Cellular responses to stress | 3 |
| PERK regulates gene expression | 1 |
| Cellular response to starvation | 1 |
| Cellular responses to stimuli | 1 |
| Unfolded Protein Response (UPR) | 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 |
| regulation of DNA-templated transcription | 2 |
| transcription by RNA polymerase II | 2 |
| DNA binding | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| cellular anatomical structure | 2 |
| gland development | 1 |
| hepaticobiliary system development | 1 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| immune system process | 1 |
| response to stimulus | 1 |
| RNA metabolic process | 1 |
| lymphocyte differentiation | 1 |
| B cell activation | 1 |
| positive regulation of cytokine production | 1 |
| type II interferon production | 1 |
| regulation of type II interferon production | 1 |
| leukocyte mediated cytotoxicity | 1 |
| natural killer cell mediated immunity | 1 |
| erythrocyte differentiation | 1 |
| positive regulation of binding | 1 |
| regulation of DNA binding | 1 |
| DNA repair | 1 |
| regulation of DNA repair | 1 |
| positive regulation of response to stimulus | 1 |
| positive regulation of DNA metabolic process | 1 |
| positive regulation of DNA-templated transcription | 1 |
| cellular response to stress | 1 |
| intracellular signaling cassette | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| nucleic acid binding | 1 |
Protein interactions and networks
STRING
1195 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CEBPG | JDP2 | Q8WYK2 | 768 |
| CEBPG | ATF5 | Q9Y2D1 | 645 |
| CEBPG | JUN | P05412 | 623 |
| CEBPG | SPI1 | P17947 | 598 |
| CEBPG | ATF4 | P18848 | 581 |
| CEBPG | ATF3 | P18847 | 533 |
| CEBPG | HNF1A | P20823 | 519 |
| CEBPG | GRPEL2 | Q8TAA5 | 514 |
| CEBPG | HNF4A | P41235 | 506 |
| CEBPG | RELA | Q04206 | 505 |
| CEBPG | CEBPA | P49715 | 495 |
| CEBPG | CEBPB | P17676 | 481 |
| CEBPG | TRIB3 | Q96RU7 | 481 |
| CEBPG | CSF3 | P09919 | 475 |
| CEBPG | XBP1 | P17861 | 464 |
| CEBPG | DDIT3 | P35638 | 464 |
IntAct
92 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CEBPG | ATF4 | psi-mi:“MI:0915”(physical association) | 0.880 |
| ATF4 | CEBPG | psi-mi:“MI:0915”(physical association) | 0.880 |
| ATF4 | CEBPG | psi-mi:“MI:0407”(direct interaction) | 0.880 |
| CEBPG | ATF4 | psi-mi:“MI:0407”(direct interaction) | 0.880 |
| DDIT3 | CEBPG | psi-mi:“MI:0407”(direct interaction) | 0.830 |
| CEBPG | DDIT3 | psi-mi:“MI:0407”(direct interaction) | 0.830 |
| CEBPG | DDIT3 | psi-mi:“MI:0915”(physical association) | 0.830 |
| ATF5 | CEBPG | psi-mi:“MI:0407”(direct interaction) | 0.820 |
| CEBPG | ATF5 | psi-mi:“MI:0915”(physical association) | 0.820 |
| CEBPG | ATF5 | psi-mi:“MI:0407”(direct interaction) | 0.820 |
| CEBPG | ATF3 | psi-mi:“MI:0407”(direct interaction) | 0.710 |
| ATF2 | CEBPG | psi-mi:“MI:0407”(direct interaction) | 0.710 |
| ATF3 | CEBPG | psi-mi:“MI:0407”(direct interaction) | 0.710 |
| CEBPG | ATF2 | psi-mi:“MI:0407”(direct interaction) | 0.710 |
BioGRID (82): CEBPG (Two-hybrid), DDIT3 (Two-hybrid), MLLT6 (Two-hybrid), POLR2M (Two-hybrid), DDIT3 (Two-hybrid), KLF5 (Two-hybrid), CEBPG (Affinity Capture-Western), KLF5 (Affinity Capture-Western), CEBPG (Affinity Capture-MS), CEBPG (Affinity Capture-MS), CEBPG (Two-hybrid), ATF5 (Two-hybrid), PFDN6 (Two-hybrid), CEBPG (Reconstituted Complex), CEBPG (Two-hybrid)
ESM2 similar proteins: A0JMF8, A7YY54, B1WAV2, O77627, O93602, P05411, P05412, P05627, P09450, P12981, P15066, P15336, P15408, P16951, P17275, P17325, P17535, P17544, P18625, P18870, P24898, P26801, P27921, P47930, P48380, P48381, P51145, P52909, P53567, P53568, P54864, P56432, P79703, Q00969, Q02930, Q06455, Q0V9K5, Q0VBZ5, Q4R3I8, Q5EY87
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
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CEBPE | “up-regulates activity” | CEBPG | binding |
| CEBPG | “up-regulates quantity by expression” | LTF | “transcriptional regulation” |
| CEBPG | “up-regulates quantity by expression” | SFTPD | “transcriptional regulation” |
| CEBPG | “up-regulates quantity by expression” | SLCO1B3 | “transcriptional regulation” |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 31 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 | 5 | 178.4× | 6e-09 |
| Response of EIF2AK4 (GCN2) to amino acid deficiency | 5 | 27.7× | 2e-05 |
| Cellular responses to stress | 7 | 12.9× | 2e-05 |
| Cellular responses to stimuli | 7 | 11.0× | 4e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| integrated stress response signaling | 14 | 339.0× | 4e-32 |
| endoplasmic reticulum unfolded protein response | 5 | 51.0× | 4e-06 |
| response to endoplasmic reticulum stress | 5 | 28.8× | 4e-05 |
| positive regulation of gene expression | 6 | 8.0× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
28 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 22 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4279213 | GRCh37/hg19 19q13.11(chr19:33868258-34019755)x1 | Pathogenic |
SpliceAI
493 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:33378866:G:GT | donor_gain | 0.9900 |
| 19:33374630:G:GT | donor_gain | 0.9800 |
| 19:33378864:TGG:T | donor_gain | 0.9800 |
| 19:33378866:G:T | donor_gain | 0.9800 |
| 19:33374659:A:T | donor_gain | 0.9600 |
| 19:33373893:CAGG:C | donor_loss | 0.9500 |
| 19:33373894:AG:A | donor_loss | 0.9500 |
| 19:33373895:GGTAA:G | donor_loss | 0.9500 |
| 19:33373896:G:GA | donor_loss | 0.9500 |
| 19:33373897:T:G | donor_loss | 0.9500 |
| 19:33373892:GCAG:G | donor_gain | 0.9400 |
| 19:33374418:A:T | donor_gain | 0.9400 |
| 19:33374611:G:GT | donor_gain | 0.9300 |
| 19:33376140:C:G | donor_gain | 0.9300 |
| 19:33374634:G:GT | donor_gain | 0.9100 |
| 19:33378411:GT:G | donor_gain | 0.9000 |
| 19:33378412:TT:T | donor_gain | 0.9000 |
| 19:33374417:G:T | donor_gain | 0.8900 |
| 19:33374622:A:G | donor_gain | 0.8900 |
| 19:33374635:A:T | donor_gain | 0.8900 |
| 19:33374372:A:AG | donor_gain | 0.8800 |
| 19:33374677:GCTG:G | donor_gain | 0.8800 |
| 19:33374384:TTCAG:T | donor_gain | 0.8700 |
| 19:33374388:G:GT | donor_gain | 0.8700 |
| 19:33374703:GTT:G | donor_gain | 0.8600 |
| 19:33374704:TTT:T | donor_gain | 0.8600 |
| 19:33373732:G:T | donor_gain | 0.8400 |
| 19:33373896:G:GG | donor_gain | 0.8400 |
| 19:33374640:C:T | donor_gain | 0.8400 |
| 19:33379139:ACTAG:A | acceptor_loss | 0.8400 |
AlphaMissense
996 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:33379452:G:C | R71S | 1.000 |
| 19:33379452:G:T | R71S | 1.000 |
| 19:33379453:A:G | N72D | 1.000 |
| 19:33379454:A:T | N72I | 1.000 |
| 19:33379455:C:A | N72K | 1.000 |
| 19:33379455:C:G | N72K | 1.000 |
| 19:33379462:G:C | A75P | 1.000 |
| 19:33379463:C:A | A75D | 1.000 |
| 19:33379498:G:C | A87P | 1.000 |
| 19:33379520:T:A | V94D | 1.000 |
| 19:33379529:T:A | L97H | 1.000 |
| 19:33379529:T:C | L97P | 1.000 |
| 19:33379540:A:G | N101D | 1.000 |
| 19:33379541:A:T | N101I | 1.000 |
| 19:33379550:T:C | L104S | 1.000 |
| 19:33379571:T:C | L111P | 1.000 |
| 19:33379592:T:C | L118P | 1.000 |
| 19:33379442:G:C | R68P | 0.999 |
| 19:33379444:C:G | R69G | 0.999 |
| 19:33379445:G:C | R69P | 0.999 |
| 19:33379451:G:C | R71T | 0.999 |
| 19:33379451:G:T | R71M | 0.999 |
| 19:33379453:A:C | N72H | 0.999 |
| 19:33379454:A:C | N72T | 0.999 |
| 19:33379456:A:G | N73D | 0.999 |
| 19:33379458:C:A | N73K | 0.999 |
| 19:33379458:C:G | N73K | 0.999 |
| 19:33379462:G:A | A75T | 0.999 |
| 19:33379463:C:T | A75V | 0.999 |
| 19:33379471:A:G | K78E | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000446465 (19:33377969 A>T), RS1000448307 (19:33373274 C>A), RS1000500390 (19:33372904 C>A,T), RS1000569140 (19:33371821 C>T), RS1000738517 (19:33373576 A>C,T), RS1001244191 (19:33372433 A>C,G), RS1001590616 (19:33372121 C>T), RS1002189811 (19:33373391 C>T), RS1002778250 (19:33379125 C>T), RS1002880061 (19:33376237 G>A), RS1002932314 (19:33376564 TAA>T), RS1002984126 (19:33380014 G>A), RS1003004993 (19:33373542 G>A,C), RS1003162264 (19:33373686 T>C), RS1003276996 (19:33379861 C>A,T)
Disease associations
OMIM: gene MIM:138972 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001725_61 | Inflammatory bowel disease | 6.000000e-15 |
| GCST003048_326 | Schizophrenia | 3.000000e-08 |
| GCST012228_610 | Waist-hip index | 7.000000e-09 |
| GCST012230_165 | Waist-to-hip ratio adjusted for BMI | 4.000000e-08 |
| GCST90016675_2 | Pancreas fat | 2.000000e-22 |
| GCST90016675_4 | Pancreas fat | 2.000000e-08 |
| GCST90020025_1517 | Waist-to-hip ratio adjusted for BMI | 2.000000e-15 |
| GCST90020027_234 | Waist-hip index | 3.000000e-16 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007788 | BMI-adjusted waist-hip ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
80 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | increases expression | 4 |
| bisphenol A | affects expression, decreases expression, increases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 3 |
| Benzo(a)pyrene | increases methylation, affects methylation, decreases expression | 3 |
| Tretinoin | decreases expression | 3 |
| didecyldimethylammonium | increases expression | 2 |
| Acetaminophen | increases expression | 2 |
| Cisplatin | decreases expression, increases reaction, increases expression | 2 |
| Estradiol | increases expression, increases reaction | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| Tunicamycin | increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression, increases expression | 2 |
| Thapsigargin | increases expression | 2 |
| Particulate Matter | increases abundance, increases expression, affects cotreatment | 2 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| geraniol | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| nickel chloride | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| cupric oxide | increases expression | 1 |
| 1-nitropyrene | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| tamibarotene | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
Cellosaurus cell lines
6 cell lines: 3 embryonic stem cell, 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A0Q2 | SEES3-1V human CEBPG, clone1 | Embryonic stem cell | Male |
| CVCL_A0Q3 | SEES3-1V human CEBPG, clone2 | Embryonic stem cell | Male |
| CVCL_A0Q4 | SEES3-1V human CEBPG, clone3 | Embryonic stem cell | Male |
| CVCL_D3XF | HepG2/8F_HS | Cancer cell line | Male |
| CVCL_GZ77 | K562 eGFP-CEBPG | Cancer cell line | Female |
| CVCL_HA11 | MCF-7 eGFP-CEBPG | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.