DNTTIP2
gene geneOn this page
Also known as HSU15552ERBPTdIF2
Summary
DNTTIP2 (deoxynucleotidyltransferase terminal interacting protein 2, HGNC:24013) is a protein-coding gene on chromosome 1p22.1, encoding Deoxynucleotidyltransferase terminal-interacting protein 2 (Q5QJE6). Regulates the transcriptional activity of DNTT and ESR1. It is a selective cancer dependency (DepMap: 73.4% of cell lines).
This gene is thought to be involved in chromatin remodeling and gene transcription. The encoded nuclear protein binds to and enhances the transcriptional activity of the estrogen receptor alpha, and also interacts with terminal deoxynucleotidyltransferase. The expression profile of this gene is a potential biomarker for chronic obstructive pulmonary disease.
Source: NCBI Gene 30836 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 112 total
- Cancer dependency (DepMap): dependent in 73.4% of screened cell lines
- MANE Select transcript:
NM_014597
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24013 |
| Approved symbol | DNTTIP2 |
| Name | deoxynucleotidyltransferase terminal interacting protein 2 |
| Location | 1p22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HSU15552, ERBP, TdIF2 |
| Ensembl gene | ENSG00000067334 |
| Ensembl biotype | protein_coding |
| OMIM | 611199 |
| Entrez | 30836 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 3 protein_coding_CDS_not_defined, 2 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000359208, ENST00000436063, ENST00000460191, ENST00000462746, ENST00000496535, ENST00000496672, ENST00000528680
RefSeq mRNA: 1 — MANE Select: NM_014597
NM_014597
CCDS: CCDS44174
Canonical transcript exons
ENST00000436063 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000777089 | 93875645 | 93875783 |
| ENSE00001774432 | 93866284 | 93869944 |
| ENSE00002201976 | 93879077 | 93879206 |
| ENSE00003464563 | 93876268 | 93877862 |
| ENSE00003551497 | 93873119 | 93873214 |
| ENSE00003641262 | 93870683 | 93870792 |
| ENSE00003655393 | 93872072 | 93872236 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 96.45.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.2469 / max 531.0837, expressed in 1787 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 13346 | 21.9365 | 1774 |
| 13347 | 3.2626 | 1393 |
| 13338 | 0.0478 | 25 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 96.45 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 95.82 | gold quality |
| gingival epithelium | UBERON:0001949 | 95.66 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 95.40 | gold quality |
| gingiva | UBERON:0001828 | 95.39 | gold quality |
| islet of Langerhans | UBERON:0000006 | 95.36 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 95.03 | gold quality |
| ventricular zone | UBERON:0003053 | 95.01 | gold quality |
| gluteal muscle | UBERON:0002000 | 94.89 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 94.89 | gold quality |
| biceps brachii | UBERON:0001507 | 94.88 | gold quality |
| tendon | UBERON:0000043 | 94.84 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 94.73 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 94.67 | gold quality |
| heart right ventricle | UBERON:0002080 | 94.56 | gold quality |
| cranial nerve II | UBERON:0000941 | 94.47 | gold quality |
| gastrocnemius | UBERON:0001388 | 94.11 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 94.07 | gold quality |
| deltoid | UBERON:0001476 | 93.93 | gold quality |
| ganglionic eminence | UBERON:0004023 | 93.89 | gold quality |
| endothelial cell | CL:0000115 | 93.83 | gold quality |
| skin of hip | UBERON:0001554 | 93.81 | gold quality |
| cervix epithelium | UBERON:0004801 | 93.79 | gold quality |
| cortical plate | UBERON:0005343 | 93.73 | gold quality |
| bronchial epithelial cell | CL:0002328 | 93.69 | gold quality |
| tibialis anterior | UBERON:0001385 | 93.65 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 93.56 | gold quality |
| muscle of leg | UBERON:0001383 | 93.41 | gold quality |
| bone marrow cell | CL:0002092 | 93.40 | gold quality |
| colonic epithelium | UBERON:0000397 | 93.40 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-53 | no | 672.50 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): KAT5
miRNA regulators (miRDB)
21 targeting DNTTIP2, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-200A-5P | 99.76 | 69.10 | 949 |
| HSA-MIR-200B-5P | 99.76 | 69.05 | 948 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-7152-5P | 99.60 | 69.33 | 2094 |
| HSA-MIR-409-3P | 99.50 | 66.33 | 1192 |
| HSA-MIR-302B-5P | 99.50 | 69.49 | 1857 |
| HSA-MIR-302D-5P | 99.50 | 69.34 | 1863 |
| HSA-MIR-32-3P | 99.36 | 68.20 | 2517 |
| HSA-MIR-148A-5P | 99.30 | 68.27 | 1141 |
| HSA-MIR-224-3P | 98.91 | 68.42 | 1815 |
| HSA-MIR-522-3P | 98.91 | 68.56 | 1817 |
| HSA-MIR-5007-5P | 97.95 | 64.71 | 614 |
| HSA-MIR-193A-5P | 95.70 | 65.33 | 613 |
| HSA-MIR-4694-5P | 94.62 | 65.39 | 532 |
| HSA-MIR-758-5P | 93.99 | 64.46 | 534 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 73.4% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- The TdIF2 might promote hrDNAP activity by suppressing Tip60’s HAT activity and promoting UBF acetylation. (PMID:21668587)
- Depletion of DNTTIP2 Induces Cell Cycle Arrest in Pancreatic Cancer Cells. (PMID:38151292)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dnttip2 | ENSDARG00000057648 |
| mus_musculus | Dnttip2 | ENSMUSG00000039756 |
| rattus_norvegicus | Dnttip2 | ENSRNOG00000025025 |
| drosophila_melanogaster | CG1142 | FBGN0037504 |
| caenorhabditis_elegans | WBGENE00021715 |
Protein
Protein identifiers
Deoxynucleotidyltransferase terminal-interacting protein 2 — Q5QJE6 (reviewed: Q5QJE6)
Alternative names: Estrogen receptor-binding protein, LPTS-interacting protein 2, Terminal deoxynucleotidyltransferase-interacting factor 2
All UniProt accessions (3): Q5QJE6, E9PRB3, J3KP30
UniProt curated annotations — full annotation on UniProt →
Function. Regulates the transcriptional activity of DNTT and ESR1. May function as a chromatin remodeling protein. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome.
Subunit / interactions. Forms a ternary complex with DNTT and core histone; interaction with PCNA releases DNTT and H2A/H2B histones from this ternary complex. Interacts with ESR1, ESR2, PPARG and RXRA. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3.
Subcellular location. Nucleus. Nucleolus.
Tissue specificity. Widely expressed with higher levels in testis.
RefSeq proteins (1): NP_055412* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR014810 | Fcf2_C | Domain |
| IPR039883 | Fcf2/DNTTIP2 | Family |
Pfam: PF08698
UniProt features (53 total): modified residue 19, cross-link 15, compositionally biased region 5, sequence variant 5, region of interest 4, sequence conflict 3, chain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7MQA | ELECTRON MICROSCOPY | 2.7 |
| 7MQ8 | ELECTRON MICROSCOPY | 3.6 |
| 7MQ9 | ELECTRON MICROSCOPY | 3.87 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5QJE6-F1 | 54.47 | 0.16 |
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 (34): 21, 117, 129, 141, 145, 148, 184, 194, 232, 239, 251, 253, 324, 330, 381, 434, 512, 569, 610, 217 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 135 (showing top):
SHEPARD_BMYB_MORPHOLINO_UP, GOBP_RIBOSOME_BIOGENESIS, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_MATURATION_OF_SSU_RRNA, PUJANA_CHEK2_PCC_NETWORK, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GARY_CD5_TARGETS_DN, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, chr1p22, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GCM_DDX5, VANTVEER_BREAST_CANCER_BRCA1_UP
GO Biological Process (2): RNA processing (GO:0006396), ribosomal small subunit biogenesis (GO:0042274)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (5): nucleoplasm (GO:0005654), chromosome (GO:0005694), nucleolus (GO:0005730), small-subunit processome (GO:0032040), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nuclear lumen | 2 |
| intracellular membraneless organelle | 2 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| primary metabolic process | 1 |
| ribonucleoprotein complex biogenesis | 1 |
| ribosome biogenesis | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
| nucleolus | 1 |
| preribosome | 1 |
| t-UTP complex | 1 |
| nuclear protein-containing complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2001 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DNTTIP2 | FCF1 | Q9Y324 | 965 |
| DNTTIP2 | FAF1 | Q9UNN5 | 834 |
| DNTTIP2 | UTP3 | Q9NQZ2 | 770 |
| DNTTIP2 | DNTT | P04053 | 767 |
| DNTTIP2 | WDR46 | O15213 | 724 |
| DNTTIP2 | UTP11 | Q9Y3A2 | 692 |
| DNTTIP2 | FBL | P22087 | 520 |
| DNTTIP2 | ESR2 | Q92731 | 515 |
| DNTTIP2 | DNTTIP1 | Q9H147 | 503 |
| DNTTIP2 | UTP15 | Q8TED0 | 477 |
| DNTTIP2 | KRR1 | Q13601 | 457 |
| DNTTIP2 | UTP20 | O75691 | 453 |
| DNTTIP2 | UTP23 | Q9BRU9 | 447 |
| DNTTIP2 | ESR1 | P03372 | 438 |
| DNTTIP2 | HEATR1 | Q9H583 | 426 |
IntAct
105 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| DNTTIP2 | CAVIN1 | psi-mi:“MI:0915”(physical association) | 0.680 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| DNTTIP2 | CEP70 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DNTTIP2 | PICK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF8 | DNTTIP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FGF3 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| EXOSC4 | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.530 |
| NPM1 | WDR46 | psi-mi:“MI:0914”(association) | 0.480 |
| RBM6 | DNTTIP2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RPF2 | DNTTIP2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| IFIT2 | DNTTIP2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FAM50A | DNTTIP2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NELL1 | DNTTIP2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DNTTIP2 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| DNTTIP2 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| PHF8 | MACROH2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| Kif20b | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| RRP1B | ZNF785 | psi-mi:“MI:0914”(association) | 0.350 |
| MKI67 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.350 |
| Mecom | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| DGCR8 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
| RBM4 | NOP56 | psi-mi:“MI:0914”(association) | 0.350 |
| NIFK | RRP8 | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPA1 | HNRNPR | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (174): DNTTIP2 (Affinity Capture-MS), DNTTIP2 (Affinity Capture-MS), DNTTIP2 (Affinity Capture-MS), DNTTIP2 (Affinity Capture-MS), DNTTIP2 (Affinity Capture-MS), DNTTIP2 (Affinity Capture-MS), DNTTIP2 (Affinity Capture-MS), DNTTIP2 (Affinity Capture-MS), DNTTIP2 (Affinity Capture-MS), DNTTIP2 (Affinity Capture-MS), DNTTIP2 (Affinity Capture-MS), DNTTIP2 (Affinity Capture-MS), DNTTIP2 (Affinity Capture-MS), DNTTIP2 (Affinity Capture-MS), DNTTIP2 (Positive Genetic)
ESM2 similar proteins: A0A3Q2UEI8, A0JNH9, A2BIL8, A8PUI7, B1H1S4, B2GUZ2, E7FAP1, E9Q309, F1R983, O60284, P49452, P51960, P86345, Q0P5H2, Q3T0A6, Q3T8J9, Q4KLP8, Q4QY64, Q4R731, Q535K8, Q563C3, Q58EL7, Q5FBB7, Q5QJE6, Q5VT06, Q5XG21, Q65Z40, Q6KAQ7, Q6NWJ0, Q6P0N0, Q6P6I6, Q76FK4, Q7YQM1, Q7YQM2, Q80WQ8, Q8C263, Q8C551, Q8IYH5, Q8NA57, Q8R2M2
Diamond homologs: O42877, Q0P5H2, Q12035, Q5QJE6, Q8R2M2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 128 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 |
|---|---|---|---|
| Major pathway of rRNA processing in the nucleolus and cytosol | 16 | 10.8× | 5e-10 |
| rRNA modification in the nucleus and cytosol | 5 | 10.3× | 4e-03 |
| Formation of a pool of free 40S subunits | 8 | 9.8× | 3e-04 |
| Peptide chain elongation | 7 | 9.8× | 5e-04 |
| Viral mRNA Translation | 7 | 9.8× | 5e-04 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 7 | 9.7× | 5e-04 |
| SARS-CoV-1-host interactions | 5 | 9.7× | 5e-03 |
| Selenocysteine synthesis | 7 | 9.2× | 5e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ribosomal small subunit biogenesis | 7 | 13.6× | 2e-04 |
| RNA processing | 7 | 13.1× | 2e-04 |
| cytoplasmic translation | 8 | 12.7× | 2e-04 |
| regulation of alternative mRNA splicing, via spliceosome | 6 | 12.5× | 8e-04 |
| heterochromatin formation | 5 | 10.9× | 7e-03 |
| rRNA processing | 8 | 9.7× | 2e-04 |
| RNA splicing | 10 | 7.5× | 2e-04 |
| mRNA processing | 10 | 6.7× | 3e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
112 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 95 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
774 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:93869853:A:AC | donor_gain | 1.0000 |
| 1:93869854:A:C | donor_gain | 1.0000 |
| 1:93869868:T:TA | donor_gain | 1.0000 |
| 1:93869940:TGTAT:T | acceptor_gain | 1.0000 |
| 1:93869941:GTAT:G | acceptor_gain | 1.0000 |
| 1:93869942:TAT:T | acceptor_gain | 1.0000 |
| 1:93869943:ATCTG:A | acceptor_loss | 1.0000 |
| 1:93869944:TC:T | acceptor_loss | 1.0000 |
| 1:93869945:C:CC | acceptor_gain | 1.0000 |
| 1:93869945:C:CG | acceptor_loss | 1.0000 |
| 1:93869946:T:C | acceptor_loss | 1.0000 |
| 1:93870675:T:TA | donor_gain | 1.0000 |
| 1:93870680:TACC:T | donor_loss | 1.0000 |
| 1:93870681:A:AC | donor_gain | 1.0000 |
| 1:93870682:C:CC | donor_gain | 1.0000 |
| 1:93870682:C:CG | donor_loss | 1.0000 |
| 1:93870682:CCTT:C | donor_gain | 1.0000 |
| 1:93870788:CCAAT:C | acceptor_gain | 1.0000 |
| 1:93870789:CAAT:C | acceptor_gain | 1.0000 |
| 1:93870789:CAATC:C | acceptor_gain | 1.0000 |
| 1:93870792:TC:T | acceptor_loss | 1.0000 |
| 1:93870793:C:CC | acceptor_gain | 1.0000 |
| 1:93870793:CTGT:C | acceptor_loss | 1.0000 |
| 1:93870800:C:CT | acceptor_gain | 1.0000 |
| 1:93872067:CATAC:C | donor_loss | 1.0000 |
| 1:93872068:ATACC:A | donor_loss | 1.0000 |
| 1:93872069:TACCT:T | donor_loss | 1.0000 |
| 1:93872070:A:C | donor_loss | 1.0000 |
| 1:93872071:C:CT | donor_loss | 1.0000 |
| 1:93872233:CTTT:C | acceptor_gain | 1.0000 |
AlphaMissense
5044 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:93870707:A:G | L718P | 1.000 |
| 1:93870760:G:C | F700L | 0.999 |
| 1:93870760:G:T | F700L | 0.999 |
| 1:93870762:A:G | F700L | 0.999 |
| 1:93872108:C:A | K677N | 0.999 |
| 1:93872108:C:G | K677N | 0.999 |
| 1:93872114:A:C | F675L | 0.999 |
| 1:93872114:A:T | F675L | 0.999 |
| 1:93872116:A:G | F675L | 0.999 |
| 1:93872138:T:A | R667S | 0.999 |
| 1:93872138:T:G | R667S | 0.999 |
| 1:93872148:A:G | L664P | 0.999 |
| 1:93872157:A:G | L661P | 0.999 |
| 1:93872206:A:G | W645R | 0.999 |
| 1:93872206:A:T | W645R | 0.999 |
| 1:93869913:C:G | A737P | 0.998 |
| 1:93870704:A:G | L719P | 0.998 |
| 1:93870730:C:A | R710S | 0.998 |
| 1:93870730:C:G | R710S | 0.998 |
| 1:93870788:C:T | G691E | 0.998 |
| 1:93870789:C:G | G691R | 0.998 |
| 1:93870789:C:T | G691R | 0.998 |
| 1:93872110:T:C | K677E | 0.998 |
| 1:93872139:C:G | R667T | 0.998 |
| 1:93872169:A:G | L657P | 0.998 |
| 1:93872204:C:A | W645C | 0.998 |
| 1:93872204:C:G | W645C | 0.998 |
| 1:93869928:A:C | Y732D | 0.997 |
| 1:93870688:G:C | F724L | 0.997 |
| 1:93870688:G:T | F724L | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000148046 (1:93871982 C>T), RS1000148458 (1:93866941 C>G), RS1000285851 (1:93878789 CAGTA>C), RS1000287791 (1:93871812 A>T), RS1000642110 (1:93877206 T>C,G), RS1000830720 (1:93867838 AACAG>A), RS1000975096 (1:93865919 G>C), RS1001075127 (1:93867464 G>A), RS1001491318 (1:93878346 C>T), RS1001791780 (1:93871546 G>T), RS1002536006 (1:93880147 A>C,G), RS1002980585 (1:93868309 G>A), RS1003007550 (1:93880375 A>T), RS1003193162 (1:93874926 G>A), RS1003315973 (1:93869567 A>G)
Disease associations
OMIM: gene MIM:611199 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010313_2 | Serum polyunsaturated fatty acid concentration x sex interaction in metabolic syndrome | 1.000000e-08 |
| GCST010313_3 | Serum polyunsaturated fatty acid concentration x sex interaction in metabolic syndrome | 1.000000e-07 |
| GCST010313_5 | Serum polyunsaturated fatty acid concentration x sex interaction in metabolic syndrome | 1.000000e-07 |
| GCST010818_3 | Gut microbiota alpha diversity (PD_whole_tree index) | 5.000000e-06 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008343 | sex interaction measurement |
| EFO:0010733 | polyunsaturated fatty acid measurement |
| EFO:0006807 | linoleic acid measurement |
| EFO:0005680 | omega-6 polyunsaturated fatty acid measurement |
| EFO:0007874 | gut microbiome measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
51 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression, increases methylation | 5 |
| bisphenol A | affects expression, decreases expression | 3 |
| deoxynivalenol | increases expression | 2 |
| sodium arsenite | decreases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | decreases methylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| kojic acid | decreases expression | 1 |
| sulforaphane | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| nivalenol | increases expression | 1 |
| epigallocatechin gallate | increases expression, affects cotreatment | 1 |
| azoxystrobin | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | increases expression | 1 |
| fenpyroximate | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | increases expression | 1 |
| pyrachlostrobin | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| MT19c compound | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
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.