TP53INP2
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Also known as FLJ21759FLJ23500DKFZp434B2411DKFZp434O0827dJ1181N3.1PINHDOR
Summary
TP53INP2 (tumor protein p53 inducible nuclear protein 2, HGNC:16104) is a protein-coding gene on chromosome 20q11.22, encoding Tumor protein p53-inducible nuclear protein 2 (Q8IXH6). Dual regulator of transcription and autophagy.
The protein encoded by this gene promotes autophagy and is essential for proper autophagosome formation and processing. In addition, the encoded protein can enhance rDNA transcription by helping in the assembly of the POLR1/RNA polymerase I preinitiation complex. Finally, this protein serves as a transcriptional activator for some genes.
Source: NCBI Gene 58476 — RefSeq curated summary.
At a glance
- GWAS associations: 12
- Clinical variants (ClinVar): 15 total
- MANE Select transcript:
NM_021202
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16104 |
| Approved symbol | TP53INP2 |
| Name | tumor protein p53 inducible nuclear protein 2 |
| Location | 20q11.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ21759, FLJ23500, DKFZp434B2411, DKFZp434O0827, dJ1181N3.1, PINH, DOR |
| Ensembl gene | ENSG00000078804 |
| Ensembl biotype | protein_coding |
| OMIM | 617549 |
| Entrez | 58476 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 22 protein_coding
ENST00000374809, ENST00000374810, ENST00000414082, ENST00000451665, ENST00000894582, ENST00000894583, ENST00000894584, ENST00000894585, ENST00000894586, ENST00000894587, ENST00000894588, ENST00000894589, ENST00000894590, ENST00000894591, ENST00000894592, ENST00000894593, ENST00000894594, ENST00000894595, ENST00000894596, ENST00000894597, ENST00000894598, ENST00000962433
RefSeq mRNA: 4 — MANE Select: NM_021202
NM_001329429, NM_001329430, NM_001329431, NM_021202
CCDS: CCDS13240
Canonical transcript exons
ENST00000374810 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000661451 | 34709236 | 34709524 |
| ENSE00001334475 | 34705358 | 34705474 |
| ENSE00001464719 | 34708691 | 34708863 |
| ENSE00001529736 | 34704344 | 34704512 |
| ENSE00003842542 | 34710058 | 34713436 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 99.86.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 55.4827 / max 2442.3369, expressed in 1801 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 184241 | 50.0518 | 1789 |
| 184255 | 3.0666 | 890 |
| 184242 | 1.5909 | 699 |
| 184245 | 0.5341 | 232 |
| 184256 | 0.2393 | 103 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| inferior vagus X ganglion | UBERON:0005363 | 99.86 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 99.70 | gold quality |
| globus pallidus | UBERON:0001875 | 99.69 | gold quality |
| medial globus pallidus | UBERON:0002477 | 99.69 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 99.68 | gold quality |
| medulla oblongata | UBERON:0001896 | 99.63 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 99.62 | gold quality |
| spinal cord | UBERON:0002240 | 99.61 | gold quality |
| ventral tegmental area | UBERON:0002691 | 99.58 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 99.55 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 99.55 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 99.54 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 99.31 | gold quality |
| midbrain | UBERON:0001891 | 99.29 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 99.27 | gold quality |
| substantia nigra | UBERON:0002038 | 99.26 | gold quality |
| pons | UBERON:0000988 | 99.07 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 98.96 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 98.81 | gold quality |
| amygdala | UBERON:0001876 | 98.77 | gold quality |
| putamen | UBERON:0001874 | 98.53 | gold quality |
| hypothalamus | UBERON:0001898 | 98.36 | gold quality |
| Ammon’s horn | UBERON:0001954 | 98.09 | gold quality |
| parietal lobe | UBERON:0001872 | 97.86 | gold quality |
| kidney epithelium | UBERON:0004819 | 97.86 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 97.78 | gold quality |
| postcentral gyrus | UBERON:0002581 | 97.75 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 97.75 | gold quality |
| saphenous vein | UBERON:0007318 | 97.39 | gold quality |
| body of tongue | UBERON:0011876 | 97.39 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.19 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
220 targeting TP53INP2, 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-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-23B-5P | 99.98 | 66.07 | 587 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
Literature-anchored findings (GeneRIF, showing 21)
- TP53INP2 is a novel gene involved in the autophagy of mammalian cells. (PMID:19056683)
- Alternative splicing of an exon in the 5’ untranslated region of a gene termed TP53INP2 is a key event downstream of hnRNP A2 that is necessary for cells to invade the extracellular matrix. (PMID:19934309)
- DOR plays an important role in thyroid hormone-mediated osteoblast differentiation, and a DOR SNP associates with plasma osteocalcin in men. (PMID:21467300)
- Mutation of conserved hydrophobic residues in region 1 of TP53inp2 reduces transcriptional activity, and blocks nuclear exit and autophagic activity under autophagy-activated conditions. (PMID:22470510)
- nucleolus integrity is not essential for both DOR nucleo-cytoplasmic shuttling and DOR function on basal autophagy (PMID:22750142)
- TP53INP2 promotes ribosome biogenesis through facilitating rRNA synthesis at the nucleolus (PMID:27172002)
- The results reveal the association of TP53INP2-related basal autophagy with cell growth and malignant progression of human liposarcoma. (PMID:28131096)
- We conducted a replication study using a dataset outside of the Challenge, and found the association between TP53INP2 and ER-negative breast cancer was significant (p = 5.07x10-3). Expression of HP (16q22.2) showed a suggestive association with ER-negative breast cancer in the discovery phase (Z = 4.30, p = 1.70x10-5) although the association was not significant after Bonferroni adjustment. (PMID:28957356)
- TP53INP2 modulates adipogenesis through autophagy-dependent sequestration of GSK3beta into late endosomes and beta catenin activation, regulating adiposity. (PMID:29593329)
- TP53INP2 interacted directly with ATG7 to form a LC3B-TP53INP2-ATG7 complex in the cytoplasm. (PMID:30767704)
- Tp53inp2 is an atypical mRNA that regulates axon growth by enhancing NGF-TrkA signaling in a translation-independent manner. (PMID:30853298)
- A screen of cancer cell lines showed that those with higher protein levels of TP53INP2 are more prone to TRAIL-induced apoptosis, making TP53INP2 a potential predictive marker of cancer cell responsiveness to TRAIL treatment. These findings uncover a novel mechanism for the regulation of caspase-8 ubiquitination and reveal TP53INP2 as an important regulator of the death receptor pathway. (PMID:30979779)
- Results showed that TP53INP2 interacts with ubiquitin and ubiquitinated proteins through the ubiquitin-interacting motif (UIM). Moreover, overexpression of TP53INP2 lacking the UIM in cells leads to massive accumulation of ubiquitinated proteins and sensitizes the cells to apoptosis under stressed conditions. (PMID:31155706)
- The bifunctional role of TP53INP2 in transcription and autophagy. (PMID:31931658)
- Dysregulation in the expression of (lncRNA-TSIX, TP53INP2 mRNA, miRNA-1283) in spinal cord injury. (PMID:32535070)
- Overexpression of TP53INP2 Promotes Apoptosis in Clear Cell Renal Cell Cancer via Caspase-8/TRAF6 Signaling Pathway. (PMID:35615533)
- TP53INP2 Contributes to TGF-beta2-Induced Autophagy during the Epithelial-Mesenchymal Transition in Posterior Capsular Opacification Development. (PMID:35954230)
- Inactivation of ZSCAN18 by promoter hypermethylation drives the proliferation via attenuating TP53INP2-mediated autophagy in gastric cancer cells. (PMID:36650573)
- Cytoplasmic Expression of TP53INP2 Modulated by Demethylase FTO and Mutant NPM1 Promotes Autophagy in Leukemia Cells. (PMID:36675134)
- TP53INP2 modulates the malignant progression of colorectal cancer by reducing the inactive form of beta-catenin. (PMID:37995453)
- TP53INP2-dependent activation of muscle autophagy ameliorates sarcopenia and promotes healthy aging. (PMID:38545813)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tp53inp2 | ENSDARG00000088178 |
| danio_rerio | ENSDARG00000109769 | |
| mus_musculus | Trp53inp2 | ENSMUSG00000038375 |
| rattus_norvegicus | Tp53inp2 | ENSRNOG00000018225 |
Paralogs (1): TP53INP1 (ENSG00000164938)
Protein
Protein identifiers
Tumor protein p53-inducible nuclear protein 2 — Q8IXH6 (reviewed: Q8IXH6)
Alternative names: Diabetes and obesity-regulated gene, p53-inducible protein U
All UniProt accessions (3): Q8IXH6, Q5JX65, Q5JX66
UniProt curated annotations — full annotation on UniProt →
Function. Dual regulator of transcription and autophagy. Positively regulates autophagy and is required for autophagosome formation and processing. May act as a scaffold protein that recruits MAP1LC3A, GABARAP and GABARAPL2 and brings them to the autophagosome membrane by interacting with VMP1 where, in cooperation with the BECN1-PI3-kinase class III complex, they trigger autophagosome development. Acts as a transcriptional activator of THRA.
Subunit / interactions. Interacts with VMP1, GABARAP, GABARAPL1, GABARAPL2, MAP1LC3A, MAP1LC3B, MAP1LC3C and THRA.
Subcellular location. Cytoplasm. Cytosol. Nucleus. PML body. Cytoplasmic vesicle. Autophagosome.
Domain organisation. The LC3 interacting region (LIR) motif mediates interaction with GABARAP, GABARAPL1, GABARAPL2, MAP1LC3A, MAP1LC3B and MAP1LC3C.
RefSeq proteins (4): NP_001316358, NP_001316359, NP_001316360, NP_067025* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR029431 | TP53INP | Family |
Pfam: PF14839
UniProt features (14 total): compositionally biased region 4, region of interest 3, modified residue 2, strand 2, chain 1, sequence conflict 1, short sequence motif 1
Structure
Experimental structures (PDB)
7 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8T33 | X-RAY DIFFRACTION | 1.6 |
| 7YO9 | X-RAY DIFFRACTION | 1.75 |
| 8T36 | X-RAY DIFFRACTION | 1.85 |
| 8T35 | X-RAY DIFFRACTION | 1.9 |
| 8T32 | X-RAY DIFFRACTION | 2.05 |
| 8T31 | X-RAY DIFFRACTION | 2.1 |
| 8T4T | X-RAY DIFFRACTION | 2.36 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IXH6-F1 | 64.65 | 0.12 |
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 (2): 136, 14
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 252 (showing top):
CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, GOBP_VACUOLE_ORGANIZATION, PEREZ_TP63_TARGETS, NIKOLSKY_BREAST_CANCER_20Q11_AMPLICON, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, CREBP1_Q2, TAL1ALPHAE47_01, CACCAGC_MIR138, CTATGCA_MIR153, AAAYRNCTG_UNKNOWN, CAGCTG_AP4_Q5, GOBP_MACROAUTOPHAGY, CREB_Q4
GO Biological Process (9): autophagosome assembly (GO:0000045), osteoblast differentiation (GO:0001649), tissue homeostasis (GO:0001894), ubiquitin-dependent protein catabolic process (GO:0006511), intracellular protein localization (GO:0008104), positive regulation of DNA-templated transcription (GO:0045893), negative regulation of protein localization (GO:1903828), autophagy (GO:0006914), macroautophagy (GO:0016236)
GO Molecular Function (2): ubiquitin binding (GO:0043130), protein binding (GO:0005515)
GO Cellular Component (6): nucleus (GO:0005634), autophagosome (GO:0005776), cytosol (GO:0005829), PML body (GO:0016605), cytoplasmic vesicle (GO:0031410), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 2 |
| cellular anatomical structure | 2 |
| Atg12 activating enzyme activity | 1 |
| protein-phosphatidylethanolamide deconjugating activity | 1 |
| Atg12 conjugating enzyme activity | 1 |
| Atg12 ligase activity | 1 |
| organelle assembly | 1 |
| Atg1/ULK1 kinase complex assembly | 1 |
| autophagosome organization | 1 |
| ossification | 1 |
| cell differentiation | 1 |
| multicellular organismal-level homeostasis | 1 |
| anatomical structure homeostasis | 1 |
| protein ubiquitination | 1 |
| modification-dependent protein catabolic process | 1 |
| macromolecule localization | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| intracellular protein localization | 1 |
| regulation of protein localization | 1 |
| negative regulation of biological process | 1 |
| catabolic process | 1 |
| transmembrane transport | 1 |
| process utilizing autophagic mechanism | 1 |
| autophagosome assembly | 1 |
| autophagy | 1 |
| ubiquitin-like protein binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| vacuole | 1 |
| nuclear body | 1 |
| intracellular vesicle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
412 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TP53INP2 | GABARAPL2 | P60520 | 682 |
| TP53INP2 | F5GZY7 | F5GZY7 | 682 |
| TP53INP2 | VMP1 | Q96GC9 | 664 |
| TP53INP2 | NUPR2 | A6NF83 | 628 |
| TP53INP2 | MAP1LC3C | Q9BXW4 | 591 |
| TP53INP2 | GABARAP | O95166 | 583 |
| TP53INP2 | MAP1A | P78559 | 460 |
| TP53INP2 | NTRK1 | P04629 | 412 |
| TP53INP2 | ATG16L1 | Q676U5 | 363 |
| TP53INP2 | NRG2 | O14511 | 360 |
| TP53INP2 | C14orf119 | Q9NWQ9 | 350 |
| TP53INP2 | TP53I11 | O14683 | 349 |
| TP53INP2 | CD300C | Q08708 | 324 |
| TP53INP2 | ATG7 | O95352 | 322 |
| TP53INP2 | SPNS1 | Q9H2V7 | 310 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| Map1lc3a | TP53INP2 | psi-mi:“MI:0403”(colocalization) | 0.460 |
| Map1lc3a | TP53INP2 | psi-mi:“MI:0915”(physical association) | 0.460 |
| MAP1LC3A | TP53INP2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GABARAPL2 | TP53INP2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RACK1 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (10): MAP1LC3A (Affinity Capture-Western), TP53INP2 (Affinity Capture-Western), GABARAPL2 (Affinity Capture-Western), GABARAPL2 (Two-hybrid), TP53INP2 (Affinity Capture-Western), TP53INP2 (Two-hybrid), TP53INP2 (Affinity Capture-MS), TP53INP2 (Affinity Capture-Western), TP53INP2 (Protein-peptide), TP53INP2 (Protein-peptide)
ESM2 similar proteins: A2A9T0, A2AEV7, A2AHG0, A5PKL7, A6H7I7, A6NCL7, A6NKL6, B8ZZ34, D3ZZN9, J3QNX5, O60299, Q0PHV7, Q1W6H9, Q2KJ38, Q2M3G4, Q2M3V2, Q3LUD4, Q3SX20, Q4KLY2, Q4KMQ1, Q4QRD7, Q53LP3, Q58DG5, Q5RKJ0, Q5SW24, Q6DG50, Q6NUJ5, Q6NY19, Q6PJ61, Q6ZW31, Q7TN08, Q7TNF9, Q80X91, Q8BLS7, Q8CHM3, Q8IX07, Q8IXH6, Q8K1Q4, Q8R184, Q8TAY7
Diamond homologs: Q80YE2, Q8CFU8, Q8CHM3, Q8IXH6, Q96A56, Q9QXE4
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TP53INP2 | up-regulates | GABARAPL2 | binding |
| TP53INP2 | up-regulates | MAP1LC3A | binding |
| GRK2 | “down-regulates activity” | TP53INP2 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
15 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 10 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
592 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:34704509:CCAGG:C | donor_loss | 1.0000 |
| 20:34704511:AGGTG:A | donor_loss | 1.0000 |
| 20:34704513:G:C | donor_loss | 1.0000 |
| 20:34708859:GCCGG:G | donor_gain | 1.0000 |
| 20:34709523:GG:G | donor_gain | 1.0000 |
| 20:34709524:GG:G | donor_gain | 1.0000 |
| 20:34710056:A:AG | acceptor_gain | 1.0000 |
| 20:34710056:AG:A | acceptor_gain | 1.0000 |
| 20:34710056:AGG:A | acceptor_gain | 1.0000 |
| 20:34710057:G:GG | acceptor_gain | 1.0000 |
| 20:34710057:GG:G | acceptor_gain | 1.0000 |
| 20:34710057:GGG:G | acceptor_gain | 1.0000 |
| 20:34704513:G:GG | donor_gain | 0.9900 |
| 20:34708860:CCGG:C | donor_loss | 0.9900 |
| 20:34708861:CGG:C | donor_loss | 0.9900 |
| 20:34708862:GG:G | donor_gain | 0.9900 |
| 20:34708863:GG:G | donor_gain | 0.9900 |
| 20:34708863:GGTGA:G | donor_loss | 0.9900 |
| 20:34708869:GCC:G | donor_gain | 0.9900 |
| 20:34709350:C:CA | acceptor_gain | 0.9900 |
| 20:34709525:G:GG | donor_gain | 0.9900 |
| 20:34709525:GT:G | donor_loss | 0.9900 |
| 20:34709526:T:A | donor_loss | 0.9900 |
| 20:34710052:TCACA:T | acceptor_loss | 0.9900 |
| 20:34710053:CACAG:C | acceptor_loss | 0.9900 |
| 20:34710054:A:AG | acceptor_gain | 0.9900 |
| 20:34710054:ACAG:A | acceptor_gain | 0.9900 |
| 20:34710054:ACAGG:A | acceptor_gain | 0.9900 |
| 20:34710055:CAGG:C | acceptor_loss | 0.9900 |
| 20:34710056:A:C | acceptor_loss | 0.9900 |
AlphaMissense
1415 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:34709407:T:C | L99P | 1.000 |
| 20:34709413:T:A | I101N | 1.000 |
| 20:34709322:T:A | W71R | 0.999 |
| 20:34709322:T:C | W71R | 0.999 |
| 20:34709346:T:C | F79L | 0.999 |
| 20:34709348:T:A | F79L | 0.999 |
| 20:34709348:T:G | F79L | 0.999 |
| 20:34709410:T:A | L100H | 0.999 |
| 20:34709410:T:C | L100P | 0.999 |
| 20:34709413:T:G | I101S | 0.999 |
| 20:34709419:A:G | H103R | 0.999 |
| 20:34709420:C:A | H103Q | 0.999 |
| 20:34709420:C:G | H103Q | 0.999 |
| 20:34709424:A:C | S105R | 0.999 |
| 20:34709426:C:A | S105R | 0.999 |
| 20:34709426:C:G | S105R | 0.999 |
| 20:34709429:G:A | M106I | 0.999 |
| 20:34709429:G:C | M106I | 0.999 |
| 20:34709429:G:T | M106I | 0.999 |
| 20:34709431:C:T | S107F | 0.999 |
| 20:34709324:G:C | W71C | 0.998 |
| 20:34709324:G:T | W71C | 0.998 |
| 20:34709347:T:C | F79S | 0.998 |
| 20:34709401:A:T | E97V | 0.998 |
| 20:34709416:A:T | E102V | 0.998 |
| 20:34709417:G:C | E102D | 0.998 |
| 20:34709417:G:T | E102D | 0.998 |
| 20:34709421:C:A | P104T | 0.998 |
| 20:34709421:C:T | P104S | 0.998 |
| 20:34709422:C:A | P104H | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000132520 (20:34706772 G>A), RS1000496353 (20:34709800 C>G,T), RS1000560781 (20:34704662 A>T), RS1000653265 (20:34709637 G>A), RS1001015495 (20:34711361 T>A,G), RS1001177544 (20:34713216 G>A,T), RS1001464843 (20:34711057 A>C), RS1001804506 (20:34708399 G>A,C), RS1001831926 (20:34706339 T>C), RS1001855495 (20:34708040 C>A,T), RS1002073404 (20:34706854 T>A), RS1002167141 (20:34711628 TC>T), RS1002325584 (20:34711226 C>T), RS1002522794 (20:34710625 C>T), RS1002748019 (20:34704339 C>A,T)
Disease associations
OMIM: gene MIM:617549 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003372_40 | Glomerular filtration rate (creatinine) | 2.000000e-09 |
| GCST004292_39 | Glomerular filtration rate (creatinine) | 2.000000e-13 |
| GCST005956_31 | Waist-to-hip ratio adjusted for BMI | 8.000000e-08 |
| GCST005958_16 | Waist-to-hip ratio adjusted for BMI (age >50) | 6.000000e-06 |
| GCST005962_40 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 3.000000e-08 |
| GCST007344_40 | Estimated glomerular filtration rate | 1.000000e-11 |
| GCST007856_83 | Colorectal cancer or advanced adenoma | 3.000000e-07 |
| GCST008103_149 | Bipolar disorder | 3.000000e-06 |
| GCST008971_73 | Urate levels | 3.000000e-09 |
| GCST010135_33 | Oily fish consumption | 7.000000e-09 |
| GCST010140_23 | Pork consumption | 7.000000e-09 |
| GCST010142_10 | Fish- and plant-related diet | 8.000000e-12 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0004531 | urate measurement |
| EFO:0008111 | diet measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
56 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases methylation, affects expression, decreases expression, decreases methylation, increases expression | 4 |
| Aflatoxin B1 | increases methylation, affects expression, increases expression | 4 |
| Cyclosporine | affects expression, decreases expression | 3 |
| sodium arsenite | affects methylation, increases expression | 2 |
| perfluorooctane sulfonic acid | decreases expression | 2 |
| (+)-JQ1 compound | increases expression | 2 |
| Acetaminophen | increases expression | 2 |
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| Estradiol | affects expression, decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| resorcinol | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| trans-10,cis-12-conjugated linoleic acid | increases expression | 1 |
| abrine | increases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Rosiglitazone | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Aldehydes | decreases expression | 1 |
| Arsenic | decreases expression | 1 |
| Benzene | increases expression | 1 |
Cellosaurus cell lines
4 cell lines: 3 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3JX | Abcam HEK293T TP53INP2 KO | Transformed cell line | Female |
| CVCL_TT46 | HAP1 TP53INP2 (-) 1 | Cancer cell line | Male |
| CVCL_TT47 | HAP1 TP53INP2 (-) 2 | Cancer cell line | Male |
| CVCL_TT48 | HAP1 TP53INP2 (-) 3 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): colorectal adenoma