DR1
gene geneOn this page
Also known as NC2-BETANC2BNCB2
Summary
DR1 (down-regulator of transcription 1, HGNC:3017) is a protein-coding gene on chromosome 1p22.1, encoding Protein Dr1 (Q01658). The association of the DR1/DRAP1 heterodimer with TBP results in a functional repression of both activated and basal transcription of class II genes. It is a selective cancer dependency (DepMap: 87.5% of cell lines).
This gene encodes a TBP- (TATA box-binding protein) associated phosphoprotein that represses both basal and activated levels of transcription. The encoded protein is phosphorylated in vivo and this phosphorylation affects its interaction with TBP. This protein contains a histone fold motif at the amino terminus, a TBP-binding domain, and a glutamine- and alanine-rich region. The binding of DR1 repressor complexes to TBP-promoter complexes may establish a mechanism in which an altered DNA conformation, together with the formation of higher order complexes, inhibits the assembly of the preinitiation complex and controls the rate of RNA polymerase II transcription.
Source: NCBI Gene 1810 — RefSeq curated summary.
At a glance
- GWAS associations: 30
- Clinical variants (ClinVar): 11 total
- Cancer dependency (DepMap): dependent in 87.5% of screened cell lines
- MANE Select transcript:
NM_001938
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3017 |
| Approved symbol | DR1 |
| Name | down-regulator of transcription 1 |
| Location | 1p22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NC2-BETA, NC2B, NCB2 |
| Ensembl gene | ENSG00000117505 |
| Ensembl biotype | protein_coding |
| OMIM | 601482 |
| Entrez | 1810 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000370267, ENST00000370272, ENST00000481583, ENST00000937480
RefSeq mRNA: 1 — MANE Select: NM_001938
NM_001938
CCDS: CCDS744
Canonical transcript exons
ENST00000370272 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000777038 | 93353908 | 93354071 |
| ENSE00001452227 | 93360493 | 93369493 |
| ENSE00001452230 | 93345907 | 93346865 |
Expression profiles
Bgee: expression breadth ubiquitous, 294 present calls, max score 98.09.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 50.7236 / max 257.0457, expressed in 1820 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 4059 | 49.8547 | 1819 |
| 4061 | 0.5216 | 202 |
| 4060 | 0.3473 | 110 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| choroid plexus epithelium | UBERON:0003911 | 98.09 | gold quality |
| penis | UBERON:0000989 | 96.89 | gold quality |
| adult organism | UBERON:0007023 | 96.60 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 96.09 | gold quality |
| amniotic fluid | UBERON:0000173 | 96.04 | gold quality |
| buccal mucosa cell | CL:0002336 | 95.94 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 95.90 | gold quality |
| biceps brachii | UBERON:0001507 | 95.63 | gold quality |
| upper leg skin | UBERON:0004262 | 95.27 | gold quality |
| tibia | UBERON:0000979 | 95.16 | gold quality |
| body of tongue | UBERON:0011876 | 95.05 | gold quality |
| oral cavity | UBERON:0000167 | 94.96 | gold quality |
| superficial temporal artery | UBERON:0001614 | 94.62 | gold quality |
| skin of hip | UBERON:0001554 | 94.53 | gold quality |
| heart right ventricle | UBERON:0002080 | 94.53 | gold quality |
| urethra | UBERON:0000057 | 94.18 | gold quality |
| synovial joint | UBERON:0002217 | 94.12 | gold quality |
| superior surface of tongue | UBERON:0007371 | 94.11 | gold quality |
| seminal vesicle | UBERON:0000998 | 93.99 | gold quality |
| bone marrow | UBERON:0002371 | 93.99 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 93.99 | gold quality |
| tongue | UBERON:0001723 | 93.96 | gold quality |
| monocyte | CL:0000576 | 93.79 | gold quality |
| mononuclear cell | CL:0000842 | 93.71 | gold quality |
| leukocyte | CL:0000738 | 93.68 | gold quality |
| jejunum | UBERON:0002115 | 93.51 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 93.45 | gold quality |
| cartilage tissue | UBERON:0002418 | 93.42 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 93.35 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 93.08 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.74 |
| E-MTAB-7303 | no | 36.28 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
4 targets.
| Target | Regulation |
|---|---|
| NR1I2 | Activation |
| NR2C2 | Unknown |
| PTGS2 | Activation |
| TBP | Repression |
Upstream regulators (CollecTRI, top): BTAF1, HNF4A, NCOA2, NR0B1, NR1H4, NR1I3, NR2F1, NR2F2, TBP, ZIC1
miRNA regulators (miRDB)
177 targeting DR1, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 87.5% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 11)
- NC2 controls TBP binding and maintenance on DNA that is largely independent of a canonical TATA sequence (PMID:15574413)
- the initiator core promoter element antagonizes repression of TATA-directed transcription by negative cofactor NC2 (PMID:17584739)
- Data show that NC2beta is specifically involved in neuroblastoma pathogenesis and may be considered a new neuroblastoma biomarker. (PMID:18538002)
- ATAC Is a GCN5/PCAF-containing acetylase complex with a novel NC2-like histone fold module that interacts with the TATA-binding protein (PMID:18838386)
- heterodimerization with NC2alpha masks the nuclear localization signal in NC2beta, which prevents nuclear export of the NC2 complex (PMID:19204005)
- The physiological functions of human Dr1 include regulation of polymerase III transcription. (PMID:19965767)
- Basal core promoters control the equilibrium between negative cofactor 2 and preinitiation complexes in human cells. (PMID:20230619)
- Knockdown of DR1 resulted in reductions of viral RNA and protein production, demonstrating that DR1 acts as a positive host factor in influenza A virus replication. (PMID:25589657)
- results suggest that DR1 are expressed in the osteosarcoma cells and inhibit the proliferation of osteosarcoma cells by the down-regulation of the ERK1/2 and PI3K-Akt pathways. (PMID:28181134)
- Up-regulation of microRNA-203 in influenza A virus infection inhibits viral replication by targeting DR1. (PMID:29717211)
- Downregulation of transcription 1 hinders the replication of Dabie bandavirus by promoting the expression of TLR7, TLR8, and TLR9 signaling pathway. (PMID:38194758)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dr1 | ENSDARG00000105098 |
| mus_musculus | Dr1 | ENSMUSG00000029265 |
| rattus_norvegicus | Dr1 | ENSRNOG00000000070 |
| drosophila_melanogaster | NC2beta | FBGN0028926 |
| caenorhabditis_elegans | WBGENE00001092 |
Paralogs (2): NFYB (ENSG00000120837), FAM47E (ENSG00000189157)
Protein
Protein identifiers
Protein Dr1 — Q01658 (reviewed: Q01658)
Alternative names: Down-regulator of transcription 1, Negative cofactor 2-beta, TATA-binding protein-associated phosphoprotein
All UniProt accessions (2): Q01658, Q658N3
UniProt curated annotations — full annotation on UniProt →
Function. The association of the DR1/DRAP1 heterodimer with TBP results in a functional repression of both activated and basal transcription of class II genes. This interaction precludes the formation of a transcription-competent complex by inhibiting the association of TFIIA and/or TFIIB with TBP. Can bind to DNA on its own. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4.
Subunit / interactions. Heterodimer with DRAP1. DR1 exists in solution as a homotetramer that dissociates during interaction with TBP and then, after complexing with TBP, reassociates at a slow rate, to reconstitute the tetramer. Interacts with NFIL3. Component of the ADA2A-containing complex (ATAC), composed of KAT14, KAT2A, TADA2L, TADA3L, ZZ3, MBIP, WDR5, YEATS2, CCDC101 and DR1.
Subcellular location. Nucleus.
Post-translational modifications. Phosphorylation regulates its interaction with TBP. Not phosphorylated when bound to DRAP1.
Similarity. Belongs to the NC2 beta/DR1 family.
RefSeq proteins (1): NP_001929* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003958 | CBFA_NFYB_domain | Domain |
| IPR009072 | Histone-fold | Homologous_superfamily |
| IPR042225 | Ncb2 | Family |
Pfam: PF00808
UniProt features (20 total): helix 6, modified residue 5, strand 2, initiator methionine 1, chain 1, sequence variant 1, domain 1, region of interest 1, short sequence motif 1, compositionally biased region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1JFI | X-RAY DIFFRACTION | 2.62 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q01658-F1 | 87.84 | 0.73 |
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 (5): 167, 2, 105, 106, 166
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-3214847 | HATs acetylate histones |
| R-HSA-9772755 | Formation of WDR5-containing histone-modifying complexes |
| R-HSA-212165 | Epigenetic regulation of gene expression |
| R-HSA-3247509 | Chromatin modifying enzymes |
| R-HSA-4839726 | Chromatin organization |
| R-HSA-74160 | Gene expression (Transcription) |
| R-HSA-9917777 | Epigenetic regulation by WDR5-containing histone modifying complexes |
MSigDB gene sets: 270 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, AAGCAAT_MIR137, WANG_CLIM2_TARGETS_UP, GOBP_REGULATION_OF_PROTEIN_DEACETYLATION, GOZGIT_ESR1_TARGETS_DN, GOBP_MACROMOLECULE_DEACYLATION, MORF_HDAC1, MORF_UBE2N, TATTATA_MIR374, GENTILE_RESPONSE_CLUSTER_D3, BROWNE_HCMV_INFECTION_16HR_UP, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, WEI_MYCN_TARGETS_WITH_E_BOX
GO Biological Process (8): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), regulation of embryonic development (GO:0045995), RNA polymerase II preinitiation complex assembly (GO:0051123), regulation of cell division (GO:0051302), regulation of cell cycle (GO:0051726), DNA-templated transcription (GO:0006351)
GO Molecular Function (6): DNA binding (GO:0003677), RNA polymerase II general transcription initiation factor activity (GO:0016251), TBP-class protein binding (GO:0017025), protein heterodimerization activity (GO:0046982), protein binding (GO:0005515), general transcription initiation factor activity (GO:0140223)
GO Cellular Component (6): nucleoplasm (GO:0005654), negative cofactor 2 complex (GO:0017054), mitotic spindle (GO:0072686), RNA polymerase II transcription regulator complex (GO:0090575), ATAC complex (GO:0140672), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Chromatin modifying enzymes | 1 |
| Epigenetic regulation by WDR5-containing histone modifying complexes | 1 |
| Gene expression (Transcription) | 1 |
| Chromatin organization | 1 |
| Epigenetic regulation of gene expression | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transcription by RNA polymerase II | 3 |
| DNA-templated transcription | 2 |
| regulation of cellular process | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| regulation of DNA-templated transcription | 1 |
| embryo development | 1 |
| regulation of multicellular organismal development | 1 |
| transcription initiation at RNA polymerase II promoter | 1 |
| transcription preinitiation complex assembly | 1 |
| cell division | 1 |
| cell cycle | 1 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| nucleic acid binding | 1 |
| general transcription initiation factor activity | 1 |
| general transcription initiation factor binding | 1 |
| protein dimerization activity | 1 |
| binding | 1 |
| molecular_function | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| RNA polymerase II transcription repressor complex | 1 |
| spindle | 1 |
| transcription regulator complex | 1 |
| nuclear protein-containing complex | 1 |
| SAGA-type complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1274 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DR1 | DRAP1 | Q14919 | 990 |
| DR1 | COL18A1 | P39060 | 959 |
| DR1 | TBP | P20226 | 953 |
| DR1 | YEATS2 | Q9ULM3 | 858 |
| DR1 | MBIP | Q9NS73 | 842 |
| DR1 | CENPW | Q5EE01 | 792 |
| DR1 | GTF2B | Q00403 | 777 |
| DR1 | COL8A1 | P27658 | 762 |
| DR1 | BTAF1 | O14981 | 712 |
| DR1 | CFAP20 | Q9Y6A4 | 702 |
| DR1 | COL7A1 | Q02388 | 689 |
| DR1 | ZZZ3 | Q8IYH5 | 686 |
| DR1 | WDR5 | P61964 | 684 |
| DR1 | COL8A2 | P25067 | 669 |
| DR1 | PPARG | P37231 | 641 |
IntAct
303 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DR1 | DRAP1 | psi-mi:“MI:0915”(physical association) | 0.950 |
| DR1 | DRAP1 | psi-mi:“MI:2364”(proximity) | 0.950 |
BioGRID (151): TBP (Two-hybrid), POLE3 (Two-hybrid), DR1 (Two-hybrid), DR1 (Affinity Capture-MS), DR1 (Affinity Capture-MS), DR1 (Affinity Capture-MS), DR1 (Affinity Capture-MS), DR1 (Affinity Capture-MS), POLE3 (Two-hybrid), CCDC101 (Co-fractionation), COPS3 (Co-fractionation), DR1 (Co-fractionation), DRAP1 (Co-fractionation), DR1 (Affinity Capture-MS), DRAP1 (Co-fractionation)
ESM2 similar proteins: A0MQH0, A2AWA9, A4FUD6, A6QL63, A6QR06, A7MAZ4, B5KFI0, O75486, P54198, P70398, P79987, Q01658, Q148V7, Q1LVW0, Q3ZBE1, Q503N9, Q5BJQ7, Q5R8N4, Q5RAN1, Q5RCC1, Q5RCR8, Q5RCW6, Q5RDB9, Q5XI68, Q5ZMQ0, Q5ZMS1, Q5ZMV3, Q61666, Q62784, Q6GMF2, Q6GQW0, Q7Z7C8, Q7ZYA2, Q8BHL5, Q8BPU7, Q8R418, Q8VHE0, Q91WV0, Q92556, Q93008
Diamond homologs: B0Y0F3, O04027, O14348, O17286, O23310, O82248, P13434, P25207, P25208, P25209, P25210, P36611, P40914, P49592, P63139, P63140, Q01658, Q0J7P4, Q32KW0, Q4WFF8, Q54WV0, Q55DJ5, Q5QMG3, Q5XI68, Q5ZMV3, Q60EQ4, Q65XK1, Q67XJ2, Q69J40, Q6BIP4, Q6RG77, Q75IZ7, Q84W66, Q8VYK4, Q91WV0, Q92317, Q9FGJ3, Q9SFD8, Q9SIT9, Q9SLG0
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| DR1 | “form complex” | “NC2 complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 86 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 |
|---|---|---|---|
| Formation of WDR5-containing histone-modifying complexes | 5 | 30.2× | 1e-04 |
| Epigenetic regulation by WDR5-containing histone modifying complexes | 5 | 17.5× | 7e-04 |
| Epigenetic regulation of gene expression | 8 | 13.0× | 7e-05 |
| Chromatin organization | 7 | 13.0× | 1e-04 |
| Chromatin modifying enzymes | 7 | 11.5× | 2e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of cell division | 5 | 50.4× | 2e-05 |
| regulation of embryonic development | 6 | 26.1× | 3e-05 |
| chromatin remodeling | 7 | 6.7× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
11 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 6 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
461 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:93346862:CAAGG:C | donor_loss | 1.0000 |
| 1:93346864:AGGT:A | donor_loss | 1.0000 |
| 1:93346866:GT:G | donor_loss | 1.0000 |
| 1:93353906:A:AG | acceptor_gain | 1.0000 |
| 1:93353907:G:GG | acceptor_gain | 1.0000 |
| 1:93354067:CAAAA:C | donor_gain | 1.0000 |
| 1:93354068:AAAA:A | donor_gain | 1.0000 |
| 1:93354069:AAA:A | donor_gain | 1.0000 |
| 1:93354070:AA:A | donor_gain | 1.0000 |
| 1:93354070:AAGT:A | donor_loss | 1.0000 |
| 1:93354071:AGT:A | donor_loss | 1.0000 |
| 1:93354072:G:GG | donor_gain | 1.0000 |
| 1:93360483:G:A | acceptor_gain | 1.0000 |
| 1:93360650:C:G | donor_gain | 1.0000 |
| 1:93346867:T:G | donor_loss | 0.9900 |
| 1:93353907:GC:G | acceptor_gain | 0.9900 |
| 1:93353907:GCA:G | acceptor_gain | 0.9900 |
| 1:93353907:GCACT:G | acceptor_gain | 0.9900 |
| 1:93354073:TAA:T | donor_loss | 0.9900 |
| 1:93355980:T:G | donor_gain | 0.9900 |
| 1:93360482:T:TA | acceptor_gain | 0.9900 |
| 1:93360492:GGCTA:G | acceptor_gain | 0.9900 |
| 1:93360650:C:CG | donor_gain | 0.9900 |
| 1:93353903:TCTA:T | acceptor_loss | 0.9800 |
| 1:93353906:A:AC | acceptor_loss | 0.9800 |
| 1:93354075:A:AG | donor_gain | 0.9800 |
| 1:93354076:G:GG | donor_gain | 0.9800 |
| 1:93360477:T:G | acceptor_gain | 0.9800 |
| 1:93360492:GGCT:G | acceptor_gain | 0.9800 |
| 1:93346866:G:GG | donor_gain | 0.9700 |
AlphaMissense
1158 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:93346685:C:T | P14S | 1.000 |
| 1:93346686:C:A | P14H | 1.000 |
| 1:93346686:C:T | P14L | 1.000 |
| 1:93346690:A:C | R15S | 1.000 |
| 1:93346690:A:T | R15S | 1.000 |
| 1:93346692:C:A | A16D | 1.000 |
| 1:93346695:C:A | A17D | 1.000 |
| 1:93346703:A:G | K20E | 1.000 |
| 1:93346705:A:C | K20N | 1.000 |
| 1:93346705:A:T | K20N | 1.000 |
| 1:93346712:A:G | K23E | 1.000 |
| 1:93346713:A:T | K23I | 1.000 |
| 1:93346714:A:C | K23N | 1.000 |
| 1:93346714:A:T | K23N | 1.000 |
| 1:93346737:T:A | V31E | 1.000 |
| 1:93346748:G:C | A35P | 1.000 |
| 1:93346749:C:A | A35D | 1.000 |
| 1:93346752:G:C | R36P | 1.000 |
| 1:93346758:T:C | L38P | 1.000 |
| 1:93346769:T:C | C42R | 1.000 |
| 1:93346772:T:C | C43R | 1.000 |
| 1:93346773:G:A | C43Y | 1.000 |
| 1:93346774:C:G | C43W | 1.000 |
| 1:93346781:T:C | F46L | 1.000 |
| 1:93346782:T:C | F46S | 1.000 |
| 1:93346783:C:A | F46L | 1.000 |
| 1:93346783:C:G | F46L | 1.000 |
| 1:93346785:T:A | I47N | 1.000 |
| 1:93346791:T:C | L49P | 1.000 |
| 1:93346796:T:C | S51P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000141571 (1:93360334 G>A), RS1000209246 (1:93358820 C>T), RS1000310400 (1:93356965 G>A), RS1000494221 (1:93360743 C>T), RS1001291617 (1:93347757 C>G), RS1001743054 (1:93347458 G>A), RS1002311781 (1:93368030 A>T), RS1002321041 (1:93360855 A>G), RS1002375660 (1:93350129 A>C), RS1002383699 (1:93367838 C>G,T), RS1002428132 (1:93349726 A>T), RS1002652805 (1:93362517 G>A), RS1002673818 (1:93361050 G>GGGA,GGGC,GGGGGT), RS1002814172 (1:93348173 G>A), RS1002822939 (1:93356711 T>A,C,G)
Disease associations
OMIM: gene MIM:601482 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
30 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006003_1 | Triglyceride levels | 6.000000e-10 |
| GCST008070_127 | HDL cholesterol levels | 6.000000e-09 |
| GCST008070_62 | HDL cholesterol levels | 3.000000e-15 |
| GCST008074_12 | Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 1.000000e-06 |
| GCST008074_83 | Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 1.000000e-06 |
| GCST008075_164 | HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 4.000000e-28 |
| GCST008075_216 | HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 5.000000e-10 |
| GCST008075_35 | HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 1.000000e-17 |
| GCST008083_31 | Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 9.000000e-07 |
| GCST008083_96 | Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 6.000000e-07 |
| GCST008084_1 | HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 3.000000e-17 |
| GCST008084_115 | HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 4.000000e-12 |
| GCST008084_213 | HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 4.000000e-31 |
| GCST008085_144 | HDL cholesterol levels in current drinkers | 8.000000e-12 |
| GCST008085_61 | HDL cholesterol levels in current drinkers | 3.000000e-19 |
| GCST008085_89 | HDL cholesterol levels in current drinkers | 3.000000e-07 |
| GCST008087_2 | Triglyceride levels in current drinkers | 3.000000e-06 |
| GCST008477_27 | Emphysema annual change measurement in smokers (adjusted lung density) | 1.000000e-06 |
| GCST008972_70 | Urate levels | 3.000000e-10 |
| GCST009602_78 | Metabolic syndrome | 2.000000e-08 |
| GCST010241_137 | Apolipoprotein A1 levels | 3.000000e-22 |
| GCST010242_483 | HDL cholesterol levels | 9.000000e-32 |
| GCST010244_140 | Triglyceride levels | 9.000000e-13 |
| GCST011345_27 | Triglyceride levels | 1.000000e-10 |
| GCST011348_65 | High density lipoprotein cholesterol levels | 2.000000e-14 |
| GCST90002397_638 | Mean spheric corpuscular volume | 6.000000e-11 |
| GCST90002403_12 | Red blood cell count | 4.000000e-10 |
| GCST90011898_70 | Alanine aminotransferase levels | 2.000000e-10 |
| GCST90011900_41 | Serum alkaline phosphatase levels | 2.000000e-12 |
| GCST90013406_189 | Liver enzyme levels (alkaline phosphatase) | 2.000000e-15 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004530 | triglyceride measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004329 | alcohol drinking |
| EFO:0007626 | emphysema imaging measurement |
| EFO:0004531 | urate measurement |
| EFO:0000195 | metabolic syndrome |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004305 | erythrocyte count |
| EFO:0004533 | alkaline phosphatase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tetrachlorodibenzodioxin | decreases expression, affects expression | 2 |
| Valproic Acid | decreases methylation, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| geraniol | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| manganese chloride | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | increases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| eprenetapopt | affects reaction, affects expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Caffeine | affects phosphorylation | 1 |
| Catechin | affects cotreatment, increases expression | 1 |
| Clozapine | decreases expression | 1 |
| Diethylstilbestrol | decreases expression | 1 |
| Enzyme Inhibitors | increases O-linked glycosylation, decreases activity | 1 |
| Haloperidol | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Manganese | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Selenium | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2W1 | Abcam HEK293T DR1 KO | Transformed 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.