CDIP1
gene geneOn this page
Also known as CDIPLITAFL
Summary
CDIP1 (cell death inducing p53 target 1, HGNC:13234) is a protein-coding gene on chromosome 16p13.3, encoding Cell death-inducing p53-target protein 1 (Q9H305). Acts as an important p53/TP53-apoptotic effector.
Predicted to enable zinc ion binding activity. Acts upstream of or within intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator. Located in cytoplasmic side of late endosome membrane; cytoplasmic side of lysosomal membrane; and nucleus.
Source: NCBI Gene 29965 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 44 total
- MANE Select transcript:
NM_013399
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13234 |
| Approved symbol | CDIP1 |
| Name | cell death inducing p53 target 1 |
| Location | 16p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CDIP, LITAFL |
| Ensembl gene | ENSG00000089486 |
| Ensembl biotype | protein_coding |
| OMIM | 610503 |
| Entrez | 29965 |
Gene structure
Transcript identifiers
Ensembl transcripts: 38 — 36 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000399599, ENST00000562334, ENST00000562579, ENST00000563186, ENST00000563332, ENST00000563507, ENST00000564828, ENST00000566234, ENST00000567695, ENST00000586728, ENST00000586768, ENST00000588381, ENST00000589159, ENST00000589890, ENST00000857432, ENST00000857433, ENST00000857434, ENST00000857435, ENST00000857436, ENST00000857437, ENST00000857438, ENST00000857439, ENST00000857440, ENST00000857441, ENST00000857442, ENST00000857443, ENST00000857444, ENST00000857445, ENST00000857446, ENST00000857447, ENST00000857448, ENST00000921885, ENST00000921886, ENST00000921887, ENST00000921888, ENST00000921889, ENST00000945079, ENST00000945083
RefSeq mRNA: 4 — MANE Select: NM_013399
NM_001199054, NM_001199055, NM_001199056, NM_013399
CCDS: CCDS42114, CCDS58419, CCDS58420
Canonical transcript exons
ENST00000567695 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000363280 | 4512791 | 4513064 |
| ENSE00001145764 | 4514575 | 4514664 |
| ENSE00002579466 | 4538702 | 4538773 |
| ENSE00002582551 | 4510669 | 4512683 |
| ENSE00003562425 | 4514046 | 4514144 |
| ENSE00003628267 | 4513696 | 4513851 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 98.19.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 47.5596 / max 883.7407, expressed in 1686 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 156100 | 38.5532 | 1683 |
| 156098 | 3.3489 | 861 |
| 156097 | 3.2425 | 589 |
| 156101 | 1.6100 | 774 |
| 156099 | 0.5876 | 381 |
| 156094 | 0.1910 | 79 |
| 156093 | 0.0264 | 8 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| prefrontal cortex | UBERON:0000451 | 98.19 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.16 | gold quality |
| frontal cortex | UBERON:0001870 | 98.13 | gold quality |
| primary visual cortex | UBERON:0002436 | 98.00 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 97.93 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.90 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 97.88 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 97.81 | gold quality |
| cerebral cortex | UBERON:0000956 | 97.77 | gold quality |
| nucleus accumbens | UBERON:0001882 | 97.73 | gold quality |
| hypothalamus | UBERON:0001898 | 97.56 | gold quality |
| putamen | UBERON:0001874 | 97.48 | gold quality |
| caudate nucleus | UBERON:0001873 | 97.38 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.37 | gold quality |
| temporal lobe | UBERON:0001871 | 97.36 | gold quality |
| amygdala | UBERON:0001876 | 97.35 | gold quality |
| brain | UBERON:0000955 | 97.19 | gold quality |
| cerebellum | UBERON:0002037 | 97.19 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.19 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.17 | gold quality |
| Ammon’s horn | UBERON:0001954 | 97.12 | gold quality |
| substantia nigra | UBERON:0002038 | 96.87 | gold quality |
| apex of heart | UBERON:0002098 | 95.69 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 95.25 | gold quality |
| adenohypophysis | UBERON:0002196 | 95.11 | gold quality |
| pituitary gland | UBERON:0000007 | 94.90 | gold quality |
| heart left ventricle | UBERON:0002084 | 93.91 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 93.37 | gold quality |
| ventricular zone | UBERON:0003053 | 92.46 | gold quality |
| ganglionic eminence | UBERON:0004023 | 92.45 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.64 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
77 targeting CDIP1, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-4715-3P | 99.98 | 66.03 | 670 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
| HSA-MIR-205-5P | 99.81 | 70.05 | 1557 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
Literature-anchored findings (GeneRIF, showing 6)
- These findings support a novel p53 –> CDIP –> TNF-alpha apoptotic pathway that directs apoptosis after exposure of cells to genotoxic stress. (PMID:17599062)
- CDIP expression correlates with sensitivity of cancer cells with TNFalpha, and CDIP seems to be a regulator of the p53-mediated death versus survival response of cells to TNFalpha. (PMID:22549949)
- Study conclude that LITAF is a monotopic membrane protein whose membrane integration is stabilised by a zinc finger. The related human protein, CDIP1 (cell death involved p53 target 1), displays identical membrane topology, suggesting that this mode of membrane integration is conserved in LITAF family proteins. (PMID:27582497)
- The Novel ALG-2 Target Protein CDIP1 Promotes Cell Death by Interacting with ESCRT-I and VAPA/B. (PMID:33503978)
- Role of ELK1 in regulating colorectal cancer progression: miR-31-5p/CDIP1 axis in CRC pathogenesis. (PMID:37547727)
- Cytoprotective Role of Autophagy in CDIP1 Expression-Induced Apoptosis in MCF-7 Breast Cancer Cells. (PMID:38928226)
Cross-species orthologs
14 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cdip1 | ENSDARG00000076118 |
| mus_musculus | Cdip1 | ENSMUSG00000004071 |
| rattus_norvegicus | Cdip1 | ENSRNOG00000003328 |
| drosophila_melanogaster | CG12645 | FBGN0030181 |
| drosophila_melanogaster | CG13510 | FBGN0034758 |
| drosophila_melanogaster | CG4250 | FBGN0034761 |
| drosophila_melanogaster | CG13516 | FBGN0040658 |
| drosophila_melanogaster | CG30269 | FBGN0050269 |
| drosophila_melanogaster | CG30273 | FBGN0050273 |
| caenorhabditis_elegans | WBGENE00012548 | |
| caenorhabditis_elegans | WBGENE00012748 | |
| caenorhabditis_elegans | WBGENE00017513 | |
| caenorhabditis_elegans | WBGENE00021253 | |
| caenorhabditis_elegans | Y87G2A.19 | WBGENE00044260 |
Paralogs (1): LITAF (ENSG00000189067)
Protein
Protein identifiers
Cell death-inducing p53-target protein 1 — Q9H305 (reviewed: Q9H305)
Alternative names: Cell death involved p53-target, Cell death-inducing protein, LITAF-like protein, Lipopolysaccharide-induced tumor necrosis factor-alpha-like protein, Transmembrane protein I1
All UniProt accessions (9): Q9H305, H3BRY7, H3BTN7, H3BTX4, K7EK15, K7ELR4, K7EM67, K7ENR4, K7ESA8
UniProt curated annotations — full annotation on UniProt →
Function. Acts as an important p53/TP53-apoptotic effector. Regulates TNF-mediated apoptosis in a p53/TP53-dependent manner.
Subcellular location. Late endosome membrane. Lysosome membrane.
Tissue specificity. Highly expressed in brain. Expressed at lower level in heart, skeletal muscle, kidney, pancreas and liver. Weakly or not expressed in placenta and lung.
Domain organisation. The LITAF domain is stabilized by a bound zinc ion. The LITAF domain contains an amphipathic helix that mediates interaction with lipid membranes.
Induction. Up-regulated by p53/TP53.
Miscellaneous. May be due to competing acceptor splice site.
Similarity. Belongs to the CDIP1/LITAF family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H305-1 | 1 | yes |
| Q9H305-2 | 2 | |
| Q9H305-3 | 3 |
RefSeq proteins (4): NP_001185983, NP_001185984, NP_001185985, NP_037531* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006629 | LITAF | Domain |
| IPR037519 | LITAF_fam | Family |
Pfam: PF10601
UniProt features (13 total): binding site 4, splice variant 2, region of interest 2, compositionally biased region 2, chain 1, domain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H305-F1 | 55.37 | 0.00 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (4): 142; 145; 194; 197
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 162 (showing top):
GGGACCA_MIR133A_MIR133B, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE_BY_P53_CLASS_MEDIATOR, GOCC_VACUOLAR_MEMBRANE, TTTGTAG_MIR520D, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, LUCAS_HNF4A_TARGETS_UP, GOCC_MICROTUBULE_ORGANIZING_CENTER, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A5, GOBP_APOPTOTIC_SIGNALING_PATHWAY, BLALOCK_ALZHEIMERS_DISEASE_UP, GOCC_CENTROSOME, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, GOBP_DNA_DAMAGE_RESPONSE, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY
GO Biological Process (2): intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771), apoptotic process (GO:0006915)
GO Molecular Function (3): zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (8): nucleus (GO:0005634), cytoplasmic side of late endosome membrane (GO:0098560), cytoplasmic side of lysosomal membrane (GO:0098574), lysosome (GO:0005764), lysosomal membrane (GO:0005765), endosome (GO:0005768), membrane (GO:0016020), late endosome membrane (GO:0031902)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intrinsic apoptotic signaling pathway in response to DNA damage | 1 |
| intrinsic apoptotic signaling pathway by p53 class mediator | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasmic side of endosome membrane | 1 |
| late endosome membrane | 1 |
| lysosomal membrane | 1 |
| cytoplasmic side of membrane | 1 |
| lytic vacuole | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| cellular anatomical structure | 1 |
| late endosome | 1 |
| endosome membrane | 1 |
Protein interactions and networks
STRING
555 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CDIP1 | BCAP31 | P51572 | 943 |
| CDIP1 | ITCH | Q96J02 | 470 |
| CDIP1 | LGALS1 | P09382 | 463 |
| CDIP1 | NEDD4 | P46934 | 462 |
| CDIP1 | OR2C1 | O95371 | 440 |
| CDIP1 | SRP68 | Q9UHB9 | 413 |
| CDIP1 | DDX47 | Q9H0S4 | 403 |
| CDIP1 | CARHSP1 | Q9Y2V2 | 402 |
| CDIP1 | MTFP1 | Q9UDX5 | 400 |
| CDIP1 | SLC8A1 | P32418 | 400 |
| CDIP1 | KANK2 | Q63ZY3 | 386 |
| CDIP1 | XRCC6 | P12956 | 381 |
| CDIP1 | BPTF | Q12830 | 378 |
| CDIP1 | APOBEC3H | Q6NTF7 | 376 |
| CDIP1 | IGFALS | P35858 | 374 |
IntAct
45 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDIP1 | TNIP1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TNIP1 | CDIP1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| DESI1 | CDIP1 | psi-mi:“MI:0915”(physical association) | 0.600 |
| CDIP1 | UBQLN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LAT | CDIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDIP1 | UBQLN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EPN2 | CDIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| OTUB2 | CDIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TOLLIP | CDIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBB | CDIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBC | CDIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| OTUD7B | CDIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DCUN1D1 | CDIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NEDD4 | CDIP1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| YAP1 | CDIP1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CDIP1 | CCR2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CDIP1 | ATXN1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CDIP1 | UBQLN1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| LAT | CDIP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CDIP1 | UBQLN2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CDIP1 | EPN2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CDIP1 | UBC | psi-mi:“MI:0915”(physical association) | 0.000 |
| CDIP1 | OTUD7B | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (19): CDIP1 (Two-hybrid), CDIP1 (Two-hybrid), CDIP1 (Affinity Capture-RNA), CDIP1 (Two-hybrid), CDIP1 (Two-hybrid), CDIP1 (Two-hybrid), OTUB2 (Two-hybrid), DESI1 (Two-hybrid), UBQLN1 (Two-hybrid), UBC (Two-hybrid), UBB (Two-hybrid), UBQLN2 (Two-hybrid), LAT (Two-hybrid), OTUD7B (Two-hybrid), CDIP1 (Synthetic Rescue)
ESM2 similar proteins: A0JNC2, A1KXE4, A8E639, A8MV65, D4AEP3, E3X5D6, P05411, P12981, P18870, P54864, P60486, Q08BY2, Q0IHC4, Q0VFP2, Q14157, Q15032, Q15038, Q157S1, Q16656, Q3LRZ1, Q3T0A9, Q3T0K9, Q3U182, Q4R5H7, Q53ET0, Q58D45, Q5BJ83, Q5R526, Q5RDV6, Q5U2U6, Q5XIH2, Q5ZIS9, Q68ED7, Q6PEH8, Q7PXU6, Q80TM6, Q80X50, Q80XQ8, Q8AVW3, Q8BGZ2
Diamond homologs: A0A1B0GVX0, P0C0T0, Q54HX8, Q58D45, Q5BJ83, Q5U2U6, Q6GMG8, Q6P828, Q8AVW3, Q8QGW7, Q99732, Q9DB75, Q9H305, Q9JLJ0, Q6GZQ0
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 17 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 |
|---|---|---|---|
| Ovarian tumor domain proteases | 5 | 99.5× | 2e-07 |
| Cargo recognition for clathrin-mediated endocytosis | 5 | 37.4× | 1e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
44 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 32 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1279 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:4512681:CAT:C | acceptor_gain | 1.0000 |
| 16:4512682:ATCT:A | acceptor_loss | 1.0000 |
| 16:4512683:TCT:T | acceptor_loss | 1.0000 |
| 16:4512684:C:CC | acceptor_gain | 1.0000 |
| 16:4512684:CTGA:C | acceptor_loss | 1.0000 |
| 16:4512690:C:CT | acceptor_gain | 1.0000 |
| 16:4512789:ACC:A | donor_gain | 1.0000 |
| 16:4512790:CCC:C | donor_gain | 1.0000 |
| 16:4512816:G:C | donor_gain | 1.0000 |
| 16:4513848:CGGC:C | acceptor_gain | 1.0000 |
| 16:4513853:T:A | acceptor_loss | 1.0000 |
| 16:4513857:C:CT | acceptor_gain | 1.0000 |
| 16:4514145:C:CC | acceptor_gain | 1.0000 |
| 16:4514151:A:C | acceptor_gain | 1.0000 |
| 16:4514569:TCTTA:T | donor_loss | 1.0000 |
| 16:4514570:CTTA:C | donor_loss | 1.0000 |
| 16:4514571:TTACC:T | donor_loss | 1.0000 |
| 16:4514572:TACCT:T | donor_loss | 1.0000 |
| 16:4514573:ACC:A | donor_loss | 1.0000 |
| 16:4514574:C:CG | donor_loss | 1.0000 |
| 16:4514671:C:CT | acceptor_gain | 1.0000 |
| 16:4512679:CACAT:C | acceptor_gain | 0.9900 |
| 16:4512682:AT:A | acceptor_gain | 0.9900 |
| 16:4512685:T:C | acceptor_loss | 0.9900 |
| 16:4512691:A:T | acceptor_gain | 0.9900 |
| 16:4512786:CCTA:C | donor_loss | 0.9900 |
| 16:4512787:CTAC:C | donor_loss | 0.9900 |
| 16:4512788:TAC:T | donor_loss | 0.9900 |
| 16:4512789:A:AC | donor_gain | 0.9900 |
| 16:4512789:A:AG | donor_loss | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000046113 (16:4537465 G>A), RS1000322333 (16:4513962 T>A), RS1000546731 (16:4518435 G>A), RS1000656835 (16:4512751 C>G,T), RS1000690968 (16:4519029 T>G), RS1000701166 (16:4535256 ACCC>A), RS1000725853 (16:4538835 T>TG), RS1000764779 (16:4535559 C>G,T), RS1000941240 (16:4532376 A>T), RS1001007557 (16:4520526 T>C,G), RS1001134990 (16:4525692 G>A), RS1001169787 (16:4518690 T>C), RS1001188144 (16:4520467 T>C), RS1001214774 (16:4537685 C>G), RS1001318895 (16:4537623 G>A)
Disease associations
OMIM: gene MIM:610503 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004946_101 | Schizophrenia | 5.000000e-09 |
| GCST012227_378 | Hip circumference adjusted for BMI | 4.000000e-08 |
| GCST012490_509 | Femur bone mineral density x serum urate levels interaction | 4.000000e-08 |
| GCST90002382_429 | Eosinophil percentage of white cells | 7.000000e-10 |
| GCST90020024_738 | A body shape index | 3.000000e-10 |
| GCST90020025_201 | Waist-to-hip ratio adjusted for BMI | 3.000000e-08 |
| GCST90020025_202 | Waist-to-hip ratio adjusted for BMI | 3.000000e-08 |
| GCST90020027_656 | Waist-hip index | 2.000000e-08 |
| GCST90020027_657 | Waist-hip index | 4.000000e-08 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0004531 | urate measurement |
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases methylation, increases expression, increases methylation | 4 |
| Aflatoxin B1 | affects expression, increases expression, increases methylation | 4 |
| FR900359 | decreases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| propionaldehyde | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| pentanal | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| nutlin 3 | increases expression, affects cotreatment | 1 |
| abrine | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| prothioconazole | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Aldehydes | increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Camptothecin | increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Dimethyl Sulfoxide | decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Quercetin | increases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Smoke | decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
11 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03414970 | PHASE3 | ACTIVE_NOT_RECRUITING | Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer |
| NCT00461344 | PHASE2 | TERMINATED | Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer |
| NCT07499999 | PHASE2 | NOT_YET_RECRUITING | Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer |
| NCT00637364 | PHASE1/PHASE2 | SUSPENDED | High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain |
| NCT02779855 | PHASE1/PHASE2 | COMPLETED | Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer |
| NCT01753908 | EARLY_PHASE1 | COMPLETED | Broccoli Sprout Extract in Treating Patients With Breast Cancer |
| NCT01796041 | EARLY_PHASE1 | COMPLETED | Intraoperative Imaging of Breast Cancer With Indocyanine Green |
| NCT01208974 | Not specified | ACTIVE_NOT_RECRUITING | Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction |
| NCT01875198 | Not specified | TERMINATED | Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer |
| NCT03543397 | Not specified | UNKNOWN | MRI in Ductal Carcinoma in Situ (DCIS) |
| NCT03834532 | Not specified | COMPLETED | Living Well After Breast Surgery |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): breast ductal adenocarcinoma