TP53I3
gene geneOn this page
Also known as PIG3
Summary
TP53I3 (tumor protein p53 inducible protein 3, HGNC:19373) is a protein-coding gene on chromosome 2p23.3, encoding Quinone oxidoreductase PIG3 (Q53FA7). NADPH:quinone reductase which expression is induced by p53/TP53 and is involved in both the DNA damage response through homologous recombination repair, and p53-mediated apoptosis.
The protein encoded by this gene is similar to oxidoreductases, which are enzymes involved in cellular responses to oxidative stresses and irradiation. This gene is induced by the tumor suppressor p53 and is thought to be involved in p53-mediated cell death. It contains a p53 consensus binding site in its promoter region and a downstream pentanucleotide microsatellite sequence. P53 has been shown to transcriptionally activate this gene by interacting with the downstream pentanucleotide microsatellite sequence. The microsatellite is polymorphic, with a varying number of pentanucleotide repeats directly correlated with the extent of transcriptional activation by p53. It has been suggested that the microsatellite polymorphism may be associated with differential susceptibility to cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 9540 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 4 total
- MANE Select transcript:
NM_004881
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19373 |
| Approved symbol | TP53I3 |
| Name | tumor protein p53 inducible protein 3 |
| Location | 2p23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PIG3 |
| Ensembl gene | ENSG00000115129 |
| Ensembl biotype | protein_coding |
| OMIM | 605171 |
| Entrez | 9540 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 7 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000238721, ENST00000335934, ENST00000407482, ENST00000413037, ENST00000417886, ENST00000470636, ENST00000861137, ENST00000861138, ENST00000923540
RefSeq mRNA: 3 — MANE Select: NM_004881
NM_001206802, NM_004881, NM_147184
CCDS: CCDS1708, CCDS56112
Canonical transcript exons
ENST00000238721 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000721466 | 24079444 | 24079640 |
| ENSE00000721478 | 24082885 | 24083152 |
| ENSE00001374637 | 24084189 | 24084834 |
| ENSE00001743570 | 24077433 | 24077761 |
| ENSE00003613580 | 24080819 | 24081031 |
Expression profiles
Bgee: expression breadth ubiquitous, 244 present calls, max score 98.37.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.0409 / max 210.0351, expressed in 1749 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 27310 | 8.1784 | 1571 |
| 27313 | 3.8191 | 1411 |
| 27312 | 2.5378 | 1174 |
| 27309 | 2.5021 | 1213 |
| 27308 | 1.9991 | 1076 |
| 27311 | 1.6079 | 980 |
| 27314 | 0.3217 | 86 |
| 27315 | 0.0748 | 8 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 98.37 | gold quality |
| ileal mucosa | UBERON:0000331 | 96.45 | gold quality |
| esophagus mucosa | UBERON:0002469 | 96.43 | gold quality |
| pancreatic ductal cell | CL:0002079 | 95.47 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 95.43 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 95.30 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 95.07 | gold quality |
| metanephros cortex | UBERON:0010533 | 94.60 | gold quality |
| duodenum | UBERON:0002114 | 93.79 | gold quality |
| transverse colon | UBERON:0001157 | 93.78 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 93.65 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 93.62 | gold quality |
| rectum | UBERON:0001052 | 93.25 | gold quality |
| body of pancreas | UBERON:0001150 | 92.69 | gold quality |
| cervix epithelium | UBERON:0004801 | 92.61 | gold quality |
| small intestine | UBERON:0002108 | 92.49 | gold quality |
| vagina | UBERON:0000996 | 92.31 | gold quality |
| squamous epithelium | UBERON:0006914 | 92.00 | gold quality |
| colonic mucosa | UBERON:0000317 | 91.68 | gold quality |
| left testis | UBERON:0004533 | 91.51 | gold quality |
| gall bladder | UBERON:0002110 | 91.43 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 91.16 | gold quality |
| upper lobe of lung | UBERON:0008948 | 91.07 | gold quality |
| tibial nerve | UBERON:0001323 | 91.04 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 90.91 | gold quality |
| right testis | UBERON:0004534 | 90.85 | gold quality |
| intestine | UBERON:0000160 | 90.51 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 90.50 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 90.43 | gold quality |
| jejunal mucosa | UBERON:0000399 | 90.35 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-114 | yes | 53.84 |
| E-MTAB-7037 | no | 243.09 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): KDM4B, TP53, TP73
miRNA regulators (miRDB)
9 targeting TP53I3, 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-670-3P | 99.03 | 68.88 | 2404 |
| HSA-MIR-6794-3P | 98.76 | 66.99 | 894 |
| HSA-MIR-518C-5P | 98.53 | 69.20 | 1640 |
| HSA-MIR-5691 | 98.23 | 67.02 | 1335 |
| HSA-MIR-6805-3P | 98.23 | 67.02 | 1334 |
| HSA-MIR-4421 | 97.99 | 64.89 | 701 |
| HSA-MIR-5699-3P | 97.81 | 65.00 | 861 |
| HSA-MIR-214-5P | 97.34 | 66.50 | 617 |
| HSA-MIR-6735-3P | 96.10 | 63.81 | 600 |
Literature-anchored findings (GeneRIF, showing 17)
- p53 activity and PIG3 gene function are uncoupled by UV-dependent alternative splicing through rapid proteolytic degradation (PMID:15067011)
- suppression of p53-C277Y by RNAi reduced pig3 promoter activity, RNA, and protein expression (PMID:15192123)
- numerous factors contribute to the normal alternative splicing of PIG3 exon 4 and UV-inducible increases in this process require that the splicing of this exon be maintained in a sufficiently weakened state under normal conditi (PMID:18801469)
- PIG3 action is through oxidative stress produced by its enzymatic activity and provides essential knowledge for eventual control of apoptosis. (PMID:19349281)
- Results suggest that PIG3 is a critical component of the DNA damage response pathway and has a direct role in the transmission of the DNA damage signal from damaged DNA to the intra-S and G2/M checkpoint machinery. (PMID:20023697)
- certain p53 mutatants activate PIG3, whereas the result of our study show increased full-length transcript expression in tumor counterparts (PMID:20603616)
- a novel signaling pathway of GPx3-PIG3 in the regulation of cell death in prostate cancer. (PMID:22461624)
- study provides evidence that the variant genotypes of (TGYCC)n repeats in the PIG3 promoter are functional and associated with risk of squamous cell carcinoma of the head and neck in a non-Hispanic white population (PMID:23241165)
- prohibitin and prohibiton (PHB2) contribute to PIG3-mediated apoptosis by binding to the PIG3 promoter (TGYCC)15 motif (PMID:24388982)
- The results suggested that PIG3 plays an oncogenic role in PTC via the regulation of the PI3K/AKT/PTEN pathway and support the exploration of PIG3 as a novel biomarker for patients with papillary thyroid carcinoma (PMID:26133772)
- PIG3, which functions in DNA damage repair, uses an unexpected catalytic mechanism to suppress Rho-ROCK activity and impair tumor invasion in vivo. This regulation was suppressed by antioxidants. (PMID:26464464)
- Data indicate that knockdown of p53-induced gene 3 (PIG-3) expression by small interfering RNA (siRNA) treatment can inhibit the generation of reactive oxygen species (ROS). (PMID:26472723)
- Data suggest that PIG3 was involved in HIF-1alpha regulation, and indicate a signaling pathway of PIG3/HIF-1alpha in the regulation of cell migration in renal cell carcinoma. (PMID:27029070)
- Results revealed that PIG3 expression levels positively correlated with poor prognosis of non-small cell lung cancer (NSCLC) patients and indicate that PIG3 promotes NSCLC progression. (PMID:28259183)
- our data suggest that high expression of p53-inducible gene 3 is significant for glioblastoma inhibition and p53-inducible gene 3 independently indicates good prognosis in patients, which might be a novel prognostic biomarker or potential therapeutic target in glioblastoma. (PMID:28351326)
- Study found that PIG3 expression was positively associated with lymph node metastasis from lung adenocarcinoma (LUAD) but not from lung squamous cell carcinoma (LUSC). Further data revealed a role for PIG3 in inducing LUAD metastasis, and its role as a new FAK regulator, suggesting that it could be considered as a novel prognostic biomarker. (PMID:30281878)
- expression of PIG3 is frequently reduced in gastric cancer (GC) tissue, and PIG3 suppressed human GC growth through p53- mediated apoptosis; PIG3 may act as a potential diagnostic marker and a potential therapeutic target of GC (PMID:30334411)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | TP53I3 | ENSDARG00000106158 |
| caenorhabditis_elegans | WBGENE00010790 | |
| caenorhabditis_elegans | WBGENE00010791 | |
| caenorhabditis_elegans | WBGENE00017060 |
Paralogs (17): PTGR1 (ENSG00000106853), VAT1 (ENSG00000108828), MECR (ENSG00000116353), CRYZ (ENSG00000116791), RTN4IP1 (ENSG00000130347), PTGR2 (ENSG00000140043), SORD (ENSG00000140263), VAT1L (ENSG00000171724), ADH6 (ENSG00000172955), PTGR3 (ENSG00000180011), ADH1A (ENSG00000187758), ADH7 (ENSG00000196344), ADH1B (ENSG00000196616), ADH5 (ENSG00000197894), ADH4 (ENSG00000198099), CRYZL1 (ENSG00000205758), ADH1C (ENSG00000248144)
Protein
Protein identifiers
Quinone oxidoreductase PIG3 — Q53FA7 (reviewed: Q53FA7)
Alternative names: NADPH:quinone reductase PIG3, Tumor protein p53-inducible protein 3, p53-induced gene 3 protein
All UniProt accessions (2): Q53FA7, H7BZH6
UniProt curated annotations — full annotation on UniProt →
Function. NADPH:quinone reductase which expression is induced by p53/TP53 and is involved in both the DNA damage response through homologous recombination repair, and p53-mediated apoptosis. Catalyzes the NADPH-dependent reduction of quinones, exhibiting a low enzymatic activity with beta-naphthoquinones and a strong preference for the ortho-quinone isomer (1,2-beta-naphthoquinone) over the para isomer (1,4-beta-naphthoquinone). Also displays a low reductase activity for non-quinone compounds such as diamine and 2,6-dichloroindophenol (in vitro). The reduction of 1,2-naphthoquinone concurrently generates reactive oxygen species (ROS), which may trigger apoptosis downstream of p53/TP53.
Subunit / interactions. Homodimer.
Induction. Isoform 1 and isoform 2 are both activated by oxorubicin, etoposide and ionizing radiation. Isoform 2 is highly activated by UV radiation.
Miscellaneous. Major isoform under normal light conditions. Major isoform under UV light exposure. Undergoes rapid proteolytic degradation by the proteasome.
Similarity. Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q53FA7-1 | 1 | yes |
| Q53FA7-2 | 2, PIG3AS |
RefSeq proteins (3): NP_001193731, NP_004872, NP_671713 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011032 | GroES-like_sf | Homologous_superfamily |
| IPR013149 | ADH-like_C | Domain |
| IPR013154 | ADH-like_N | Domain |
| IPR014189 | Quinone_OxRdtase_PIG3 | Family |
| IPR020843 | ER | Domain |
| IPR036291 | NAD(P)-bd_dom_sf | Homologous_superfamily |
Pfam: PF00107, PF08240
Catalyzed reactions (Rhea), 2 shown:
- 2 a quinone + NADPH + H(+) = 2 a 1,4-benzosemiquinone + NADP(+) (RHEA:14269)
- 2 1,2-naphthoquinone + NADPH + H(+) = 2 1,2-naphthosemiquinone + NADP(+) (RHEA:85243)
UniProt features (57 total): strand 18, helix 15, binding site 8, sequence variant 3, mutagenesis site 3, sequence conflict 3, turn 3, splice variant 2, chain 1, modified residue 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2J8Z | X-RAY DIFFRACTION | 2.5 |
| 2OBY | X-RAY DIFFRACTION | 3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q53FA7-F1 | 97.06 | 0.98 |
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 (8): 41; 152; 173; 177; 192; 264; 266; 322
Post-translational modifications (1): 1
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 51 | loss of nadph:quinone reductase activity. |
| 51 | increased nadph:quinone reductase activity. |
| 151 | loss of nadph:quinone reductase activity. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6803205 | TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain |
MSigDB gene sets: 112 (showing top):
MODULE_93, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, KAUFFMANN_DNA_REPAIR_GENES, PATIL_LIVER_CANCER, GOBP_REACTIVE_OXYGEN_SPECIES_BIOSYNTHETIC_PROCESS, BROWNE_HCMV_INFECTION_14HR_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_UP, BROWNE_HCMV_INFECTION_24HR_DN, PID_P53_DOWNSTREAM_PATHWAY, PETROVA_ENDOTHELIUM_LYMPHATIC_VS_BLOOD_DN, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NAD_P_H, KUMAMOTO_RESPONSE_TO_NUTLIN_3A_UP, SCHAVOLT_TARGETS_OF_TP53_AND_TP63, IZADPANAH_STEM_CELL_ADIPOSE_VS_BONE_UP
GO Biological Process (3): apoptotic process (GO:0006915), reactive oxygen species biosynthetic process (GO:1903409), NADP+ metabolic process (GO:0006739)
GO Molecular Function (5): quinone reductase (NADPH) activity (GO:0003960), quinone binding (GO:0048038), NADPH binding (GO:0070402), oxidoreductase activity (GO:0016491), protein homodimerization activity (GO:0042803)
GO Cellular Component (1): cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| TP53 Regulates Transcription of Cell Death Genes | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| biosynthetic process | 1 |
| reactive oxygen species metabolic process | 1 |
| purine nucleotide metabolic process | 1 |
| nicotinamide nucleotide metabolic process | 1 |
| NADPH dehydrogenase activity | 1 |
| oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor | 1 |
| small molecule binding | 1 |
| anion binding | 1 |
| NADP binding | 1 |
| catalytic activity | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1698 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TP53I3 | SESN1 | Q9Y6P5 | 642 |
| TP53I3 | TP53 | P04637 | 636 |
| TP53I3 | FDXR | P22570 | 593 |
| TP53I3 | TCHP | Q9BT92 | 557 |
| TP53I3 | CDKN1A | P38936 | 505 |
| TP53I3 | SESN3 | P58005 | 498 |
| TP53I3 | GADD45A | P24522 | 489 |
| TP53I3 | BBC3 | Q96PG8 | 488 |
| TP53I3 | RRM2B | Q7LG56 | 484 |
| TP53I3 | DRAM1 | Q8N682 | 459 |
| TP53I3 | PIDD1 | Q9HB75 | 457 |
| TP53I3 | TRIAP1 | O43715 | 455 |
| TP53I3 | ZMAT3 | Q9HA38 | 445 |
| TP53I3 | MDM2 | Q00987 | 438 |
| TP53I3 | CMIP | Q8IY22 | 427 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FER1L5 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| GNAT3 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| TK2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| MYO1C | psi-mi:“MI:0914”(association) | 0.350 | |
| TP53I3 | UNC119 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TP53I3 | EEF1G | psi-mi:“MI:0915”(physical association) | 0.000 |
| TP53I3 | UBR1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TP53I3 | FUNDC2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (23): HMBS (Co-fractionation), TP53I3 (Two-hybrid), TP53I3 (Affinity Capture-Western), GPX3 (Affinity Capture-Western), GPX3 (Reconstituted Complex), MDM2 (Affinity Capture-Western), MDM2 (Reconstituted Complex), FUNDC2 (Two-hybrid), EEF1G (Two-hybrid), UBR1 (Two-hybrid), UNC119 (Two-hybrid), TP53I3 (Co-fractionation), TP53I3 (Co-fractionation), MAP4K5 (Co-fractionation), TP53I3 (Affinity Capture-MS)
ESM2 similar proteins: A0A9E7LUR3, A9CES3, B2NI93, C6BUS3, E5AE42, N4WR35, O06012, O32264, O34815, O35017, O46650, O74822, O94564, P0A9S3, P0A9S4, P0DXJ1, P25145, P25377, P38105, P38230, P39462, P50381, P63475, P77316, P99173, Q02912, Q06004, Q32L99, Q4J781, Q53FA7, Q57517, Q59545, Q59I44, Q5BK81, Q5HE19, Q5HM44, Q5R806, Q6G7C8, Q6GEP3, Q6WAU0
Diamond homologs: A0A089FS99, A0A0C6DWS6, A0A0E0RXA7, A0A0E3U2K2, A0A0E4FKF7, A0A0F7GFI5, A0A0F9XJT1, A0A0L1JEX1, A0A1L7TY28, A0A1P8VF85, A0A1V6PAP3, A0A1W5T1Y4, A0A2L0P0L5, A0A2Z5XAK4, A0A3Q9U4Z5, A0A411KUQ4, A0A411KZZ8, A0A481WQL4, A0A482N9T9, A0A4P8W733, A0A6F8RQ72, A0A7L8UWS6, A0A7L9EZZ4, A0A8F4NUY3, A0A8F4S717, A0A8K1AWG4, A0JJU0, A1CLZ2, A2QQU5, A2QTF1, B1GVX6, B8NJH1, D7UPN2, G0REX7, G2Q9A7, G3JUI7, G3XMC6, G4MVZ3, G4MWB1, J5JCC9
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| KDM4B | “down-regulates quantity by repression” | TP53I3 | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
4 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 1 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1012 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:24077762:C:CC | acceptor_gain | 1.0000 |
| 2:24080814:TTTA:T | donor_loss | 1.0000 |
| 2:24080815:TTAC:T | donor_loss | 1.0000 |
| 2:24080816:TA:T | donor_loss | 1.0000 |
| 2:24080817:ACCTT:A | donor_loss | 1.0000 |
| 2:24080818:C:CA | donor_loss | 1.0000 |
| 2:24085052:T:TA | donor_gain | 1.0000 |
| 2:24077760:TA:T | acceptor_gain | 0.9900 |
| 2:24081028:TTTC:T | acceptor_gain | 0.9900 |
| 2:24081029:TTC:T | acceptor_gain | 0.9900 |
| 2:24081030:TC:T | acceptor_gain | 0.9900 |
| 2:24081031:CC:C | acceptor_gain | 0.9900 |
| 2:24081032:C:CC | acceptor_gain | 0.9900 |
| 2:24081032:C:CG | acceptor_loss | 0.9900 |
| 2:24081038:C:CT | acceptor_gain | 0.9900 |
| 2:24081039:A:T | acceptor_gain | 0.9900 |
| 2:24082999:A:AC | donor_gain | 0.9900 |
| 2:24083000:C:CC | donor_gain | 0.9900 |
| 2:24083050:T:TA | donor_gain | 0.9900 |
| 2:24084970:T:TA | donor_gain | 0.9900 |
| 2:24085004:G:C | donor_gain | 0.9900 |
| 2:24077757:TTGTA:T | acceptor_gain | 0.9800 |
| 2:24077758:TGTA:T | acceptor_gain | 0.9800 |
| 2:24077758:TGTAC:T | acceptor_gain | 0.9800 |
| 2:24077759:GTAC:G | acceptor_loss | 0.9800 |
| 2:24077761:ACTA:A | acceptor_loss | 0.9800 |
| 2:24077762:C:T | acceptor_loss | 0.9800 |
| 2:24077763:T:G | acceptor_loss | 0.9800 |
| 2:24079483:T:TA | donor_gain | 0.9800 |
| 2:24079645:C:CT | acceptor_gain | 0.9800 |
AlphaMissense
2130 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:24082918:A:G | W125R | 0.985 |
| 2:24082918:A:T | W125R | 0.985 |
| 2:24079557:A:G | W235R | 0.984 |
| 2:24079557:A:T | W235R | 0.984 |
| 2:24079468:A:C | S264R | 0.983 |
| 2:24079468:A:T | S264R | 0.983 |
| 2:24079470:T:G | S264R | 0.983 |
| 2:24080959:A:G | L160P | 0.982 |
| 2:24079617:C:G | D215H | 0.980 |
| 2:24084207:G:C | N40K | 0.979 |
| 2:24084207:G:T | N40K | 0.979 |
| 2:24083100:T:A | E64V | 0.978 |
| 2:24083091:C:T | G67E | 0.977 |
| 2:24077756:C:A | K274N | 0.976 |
| 2:24077756:C:G | K274N | 0.976 |
| 2:24079616:T:A | D215V | 0.974 |
| 2:24077607:C:A | G324V | 0.973 |
| 2:24080971:G:T | A156D | 0.973 |
| 2:24083005:C:G | A96P | 0.973 |
| 2:24084232:A:G | L32P | 0.973 |
| 2:24077607:C:T | G324D | 0.972 |
| 2:24081004:A:G | L145P | 0.972 |
| 2:24079625:A:G | L212P | 0.970 |
| 2:24080985:A:C | S151R | 0.970 |
| 2:24080985:A:T | S151R | 0.970 |
| 2:24080987:T:G | S151R | 0.970 |
| 2:24082922:C:A | E123D | 0.970 |
| 2:24082922:C:G | E123D | 0.970 |
| 2:24082939:C:G | A118P | 0.970 |
| 2:24084200:C:G | D43H | 0.970 |
dbSNP variants (sampled 300 via entrez): RS1000012539 (2:24081068 A>G), RS1000205395 (2:24084410 A>G), RS1000369495 (2:24080459 C>T), RS1001212661 (2:24086198 G>A), RS1001264845 (2:24086834 C>G), RS1001309445 (2:24086488 C>T), RS1001425783 (2:24079785 T>G), RS1001876404 (2:24085679 C>T), RS1002328807 (2:24079701 A>T), RS1002359869 (2:24079350 G>A,C,T), RS1003332155 (2:24078005 G>A), RS1003467721 (2:24084611 G>A), RS1003556007 (2:24084704 TC>T,TCC), RS1003650858 (2:24084978 G>A,T), RS1003810846 (2:24078469 C>T)
Disease associations
OMIM: gene MIM:605171 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
105 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cisplatin | increases expression, increases reaction, decreases expression, affects response to substance | 8 |
| Benzo(a)pyrene | affects cotreatment, increases expression | 7 |
| Fluorouracil | affects response to substance, affects reaction, increases reaction, increases expression | 7 |
| sodium arsenite | decreases expression, increases expression | 5 |
| Doxorubicin | affects expression, increases expression | 5 |
| Aflatoxin B1 | affects expression, increases expression, affects reaction | 5 |
| nutlin 3 | affects cotreatment, increases expression, increases secretion | 3 |
| Quercetin | increases expression | 3 |
| Tobacco Smoke Pollution | affects expression, decreases expression, increases expression | 3 |
| Cadmium Chloride | decreases expression, increases expression | 3 |
| kaempferol | increases expression | 2 |
| sodium arsenate | decreases expression | 2 |
| cobaltous chloride | decreases expression | 2 |
| chrysin | increases expression | 2 |
| monomethylarsonous acid | decreases expression, increases expression | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 2 |
| Estradiol | affects binding, increases expression, affects cotreatment | 2 |
| Formaldehyde | decreases expression, increases expression | 2 |
| Methotrexate | affects cotreatment, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Luteolin | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| sotorasib | affects cotreatment, increases expression | 1 |
| chloroacetaldehyde | affects expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| benzo(b)fluoranthene | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2JD | Abcam HeLa TP53I3 KO | 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.