DBP
gene geneOn this page
Also known as DABP
Summary
DBP (D-box binding PAR bZIP transcription factor, HGNC:2697) is a protein-coding gene on chromosome 19q13.33, encoding D site-binding protein (Q10586). This transcriptional activator recognizes and binds to the sequence 5’-RTTAYGTAAY-3’ found in the promoter of genes such as albumin, CYP2A4 and CYP2A5.
The protein encoded by this gene is a member of the PAR bZIP transcription factor family and binds to specific sequences in the promoters of several genes, such as albumin, CYP2A4, and CYP2A5. The encoded protein can bind DNA as a homo- or heterodimer and is involved in the regulation of some circadian rhythm genes.
Source: NCBI Gene 1628 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 57 total
- Transcription factor: yes — 37 downstream targets (CollecTRI)
- MANE Select transcript:
NM_001352
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2697 |
| Approved symbol | DBP |
| Name | D-box binding PAR bZIP transcription factor |
| Location | 19q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DABP |
| Ensembl gene | ENSG00000105516 |
| Ensembl biotype | protein_coding |
| OMIM | 124097 |
| Entrez | 1628 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron
ENST00000222122, ENST00000593500, ENST00000594723, ENST00000599385, ENST00000601104
RefSeq mRNA: 1 — MANE Select: NM_001352
NM_001352
CCDS: CCDS12728
Canonical transcript exons
ENST00000222122 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000953168 | 48635580 | 48635990 |
| ENSE00003158078 | 48636856 | 48637379 |
| ENSE00003190131 | 48630030 | 48631052 |
| ENSE00003683424 | 48633444 | 48633655 |
Expression profiles
Bgee: expression breadth ubiquitous, 267 present calls, max score 95.07.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.8334 / max 141.1626, expressed in 1590 samples.
FANTOM5 promoters (13 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 181890 | 8.9479 | 1318 |
| 181888 | 1.3106 | 621 |
| 181889 | 0.9638 | 517 |
| 181882 | 0.8831 | 486 |
| 181884 | 0.6890 | 343 |
| 181881 | 0.6719 | 337 |
| 181883 | 0.3740 | 199 |
| 181891 | 0.2500 | 137 |
| 181892 | 0.1670 | 67 |
| 181880 | 0.1664 | 58 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 95.07 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.43 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.38 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 93.25 | gold quality |
| right frontal lobe | UBERON:0002810 | 93.18 | gold quality |
| right adrenal gland | UBERON:0001233 | 93.15 | gold quality |
| cerebellum | UBERON:0002037 | 92.86 | gold quality |
| caudate nucleus | UBERON:0001873 | 92.84 | gold quality |
| nucleus accumbens | UBERON:0001882 | 92.45 | gold quality |
| prefrontal cortex | UBERON:0000451 | 92.07 | gold quality |
| putamen | UBERON:0001874 | 92.05 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 91.97 | gold quality |
| left adrenal gland | UBERON:0001234 | 91.11 | gold quality |
| adrenal cortex | UBERON:0001235 | 90.46 | gold quality |
| cingulate cortex | UBERON:0003027 | 90.11 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 90.04 | gold quality |
| skin of leg | UBERON:0001511 | 89.94 | gold quality |
| adenohypophysis | UBERON:0002196 | 89.80 | gold quality |
| granulocyte | CL:0000094 | 89.51 | gold quality |
| skin of abdomen | UBERON:0001416 | 89.42 | gold quality |
| adrenal gland | UBERON:0002369 | 89.15 | gold quality |
| frontal cortex | UBERON:0001870 | 88.97 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 88.96 | gold quality |
| frontal lobe | UBERON:0016525 | 88.96 | gold quality |
| amygdala | UBERON:0001876 | 88.84 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 88.55 | gold quality |
| neocortex | UBERON:0001950 | 88.42 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 88.23 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 88.17 | gold quality |
| pituitary gland | UBERON:0000007 | 87.79 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-137537 | yes | 13.72 |
| E-ANND-3 | yes | 3.89 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
37 targets.
| Target | Regulation |
|---|---|
| ACKR1 | Unknown |
| ADH1A | Activation |
| ADH1B | Activation |
| ADH1C | Activation |
| AFP | |
| AGT | Unknown |
| ALB | |
| ALDOB | Activation |
| ANGPT1 | |
| ARNT | |
| BMAL1 | |
| C7 | |
| CDKN2A | |
| CISH | |
| CREBBP | |
| CYP2A13 | |
| CYP2E1 | |
| CYP3A4 | Activation |
| CYP7A1 | Activation |
| EP300 | Unknown |
| ESR1 | |
| FGF2 | |
| HP | |
| IGFBP1 | |
| IGKV2D-26 | |
| JTB | |
| PAPSS2 | |
| PCK1 | |
| PER1 | |
| PER2 |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0639.1 | DBP | CEBP-related |
| MA0639.2 | DBP | CEBP-related |
JASPAR matrix evidence (PMIDs): PMID:21458520
Upstream regulators (CollecTRI, top): BHLHE41, BMAL1, CEBPA, CLOCK, HLF, HNF1A, NR1I2, TEF
miRNA regulators (miRDB)
19 targeting DBP, 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-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-513C-5P | 99.50 | 68.42 | 1730 |
| HSA-MIR-514B-5P | 99.50 | 68.19 | 1766 |
| HSA-MIR-20A-3P | 99.44 | 69.10 | 1575 |
| HSA-MIR-302A-5P | 99.39 | 68.21 | 1913 |
| HSA-MIR-520E-5P | 99.27 | 68.90 | 1513 |
| HSA-MIR-892C-5P | 99.16 | 70.56 | 2116 |
| HSA-MIR-4292 | 99.16 | 65.57 | 1767 |
| HSA-MIR-6791-5P | 99.16 | 65.92 | 1844 |
| HSA-MIR-506-5P | 98.02 | 67.41 | 1065 |
| HSA-MIR-597-3P | 96.46 | 68.03 | 1035 |
Literature-anchored findings (GeneRIF, showing 7)
- Lean individuals exhibited significant (P < 0.05) temporal changes of core clock (PER1, PER2, PER3, CRY2, BMAL1, and DBP) and metabolic (REVERBalpha, RIP140, and PGC1alpha) genes. (PMID:21411511)
- the expression of DBP and MAPK in epilepsy patients was upregulated, suggesting a possible pathogenetic role in IE. (PMID:25503293)
- Vitamin D binding protein and risk of renal cell carcinoma in the prostate, lung, colorectal and ovarian cancer screening trial. (PMID:31659740)
- The Association Between VDR and GC Polymorphisms and Lung Cancer Risk: A Systematic Review and Meta-Analysis. (PMID:32255717)
- Expression of clock gene Dbp in omental and mesenteric adipose tissue in patients with type 2 diabetes. (PMID:32816832)
- Opposing functions of circadian protein DBP and atypical E2F family E2F8 in anti-tumor Th9 cell differentiation. (PMID:36241625)
- N6-methyladenosine-modified DBT alleviates lipid accumulation and inhibits tumor progression in clear cell renal cell carcinoma through the ANXA2/YAP axis-regulated Hippo pathway. (PMID:36860124)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dbpb | ENSDARG00000057652 |
| danio_rerio | dbpa | ENSDARG00000063014 |
| mus_musculus | Dbp | ENSMUSG00000059824 |
| rattus_norvegicus | Dbp | ENSRNOG00000021027 |
| drosophila_melanogaster | Pdp1 | FBGN0016694 |
| drosophila_melanogaster | CG7786 | FBGN0034096 |
| caenorhabditis_elegans | WBGENE00011130 | |
| caenorhabditis_elegans | WBGENE00017535 |
Paralogs (2): HLF (ENSG00000108924), TEF (ENSG00000167074)
Protein
Protein identifiers
D site-binding protein — Q10586 (reviewed: Q10586)
Alternative names: Albumin D box-binding protein, Albumin D-element-binding protein, Tax-responsive enhancer element-binding protein 302
All UniProt accessions (3): Q10586, M0QXP1, M0QXW3
UniProt curated annotations — full annotation on UniProt →
Function. This transcriptional activator recognizes and binds to the sequence 5’-RTTAYGTAAY-3’ found in the promoter of genes such as albumin, CYP2A4 and CYP2A5. It is not essential for circadian rhythm generation, but modulates important clock output genes. May be a direct target for regulation by the circadian pacemaker component clock. May affect circadian period and sleep regulation.
Subunit / interactions. Binds DNA as a homodimer or a heterodimer. Can form a heterodimer with TEF.
Subcellular location. Nucleus.
Tissue specificity. Ubiquitously expressed. Expressed in the suprachiasmatic nuclei (SCN) and in most peripheral tissues, with a strong circadian rhythmicity.
Similarity. Belongs to the bZIP family. PAR subfamily.
RefSeq proteins (1): NP_001343* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004827 | bZIP | Domain |
| IPR040223 | PAR_bZIP | Family |
| IPR046347 | bZIP_sf | Homologous_superfamily |
Pfam: PF07716
UniProt features (15 total): compositionally biased region 5, region of interest 5, sequence conflict 2, chain 1, domain 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q10586-F1 | 71.35 | 0.36 |
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 (1): 86
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9931510 | Phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) activates expression of core clock genes |
MSigDB gene sets: 279 (showing top):
RNGTGGGC_UNKNOWN, GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, WANG_CLIM2_TARGETS_UP, MYOGENIN_Q6, RORA1_01, YAO_HOXA10_TARGETS_VIA_PROGESTERONE_UP, MODULE_66, MODULE_118, CAIRO_HEPATOBLASTOMA_CLASSES_DN, GERY_CEBP_TARGETS, HOWLIN_PUBERTAL_MAMMARY_GLAND, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM6, MODULE_171, MCBRYAN_PUBERTAL_BREAST_3_4WK_UP, MODULE_301
GO Biological Process (5): liver development (GO:0001889), regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of transcription by RNA polymerase II (GO:0045944), rhythmic process (GO:0048511), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (8): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)
GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), RNA polymerase II transcription regulator complex (GO:0090575)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Circadian clock | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| regulation of DNA-templated transcription | 2 |
| transcription by RNA polymerase II | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| transcription cis-regulatory region binding | 2 |
| gland development | 1 |
| hepaticobiliary system development | 1 |
| positive regulation of DNA-templated transcription | 1 |
| biological_process | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| transcription regulator activity | 1 |
| binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
| transcription regulator complex | 1 |
| nuclear protein-containing complex | 1 |
Protein interactions and networks
STRING
738 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DBP | BMAL1 | O00327 | 716 |
| DBP | PDXK | O00764 | 714 |
| DBP | NR1D1 | P20393 | 696 |
| DBP | CRY1 | Q16526 | 687 |
| DBP | TSHB | P01222 | 680 |
| DBP | SRPX2 | O60687 | 640 |
| DBP | PER2 | O15055 | 632 |
| DBP | CRY2 | Q49AN0 | 627 |
| DBP | CLOCK | O15516 | 609 |
| DBP | ALB | P02768 | 597 |
| DBP | PER3 | P56645 | 593 |
| DBP | TLE6 | Q9H808 | 588 |
| DBP | TLE2 | Q04725 | 586 |
| DBP | A0A087WTN9 | A0A087WTN9 | 584 |
| DBP | NPAS2 | Q99743 | 573 |
IntAct
21 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DBP | DDIT3 | psi-mi:“MI:0407”(direct interaction) | 0.650 |
| DDIT3 | DBP | psi-mi:“MI:0407”(direct interaction) | 0.650 |
| DDIT3 | DBP | psi-mi:“MI:0915”(physical association) | 0.650 |
| DBP | DDIT3 | psi-mi:“MI:0915”(physical association) | 0.650 |
| HLF | DBP | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| DBP | HLF | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| HLF | DBP | psi-mi:“MI:0915”(physical association) | 0.590 |
| DBP | CEBPG | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CEBPA | DBP | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DBP | DBP | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| BATF | DBP | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| BATF3 | DBP | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DBP | ATF3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DBP | BATF | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DBP | BATF2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DBP | BATF3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DBP | psi-mi:“MI:0915”(physical association) | 0.400 | |
| CEBPG | psi-mi:“MI:0915”(physical association) | 0.400 | |
| JUN | psi-mi:“MI:0915”(physical association) | 0.400 | |
| DBP | Clock | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (18): DBP (Two-hybrid), DBP (Affinity Capture-MS), DBP (Affinity Capture-RNA), DBP (Affinity Capture-RNA), DBP (FRET), DBP (FRET), DBP (FRET), BATF3 (FRET), BATF2 (FRET), BATF (FRET), ATF3 (FRET), EPAS1 (FRET), CEBPA (FRET), CEBPG (FRET), DDIT3 (FRET)
ESM2 similar proteins: A0A1W2PPE3, A0A2R8Y2Y2, A0A494C0N9, A0A494C0Y3, A0A7I2V3R4, A0JNN8, A2VDX9, A5A769, A5PJP1, A6QPM6, A8MTW9, C9JTQ0, O15370, O35182, O43541, O70218, O75474, O89113, O94850, P0C7X2, P0DPE3, P28283, P37318, P37319, P70339, Q04890, Q10586, Q32PF6, Q5BLP8, Q5T230, Q5U5M8, Q5VY09, Q60925, Q6IQX8, Q6NZ36, Q6NZY7, Q6QNY0, Q6ZSJ8, Q7TNS8, Q80WY3
Diamond homologs: A0A5F9ZHS7, O08750, P16443, P41224, P97516, Q08D88, Q10586, Q10587, Q16534, Q16649, Q32PF6, Q5FW38, Q60925, Q64709, Q66J36, Q68EL6, Q6IMZ0, Q8BW74, Q90Z72, Q92172, Q94126, Q9JLC6
SIGNOR signaling
6 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| DBP | “up-regulates quantity by expression” | ALDOB | “transcriptional regulation” |
| DBP | “up-regulates quantity by expression” | CYP3A4 | “transcriptional regulation” |
| DBP | up-regulates | Gluconeogenesis | |
| DBP | “up-regulates quantity by expression” | Aldolase | “transcriptional regulation” |
| CLOCK/BMAL1 | “up-regulates quantity by expression” | DBP | “transcriptional regulation” |
| DBP | “up-regulates quantity by expression” | CYP7A1 | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
57 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 42 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
567 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:48631048:TCATC:T | acceptor_gain | 1.0000 |
| 19:48631049:CATC:C | acceptor_gain | 1.0000 |
| 19:48631049:CATCC:C | acceptor_gain | 1.0000 |
| 19:48631050:ATC:A | acceptor_gain | 1.0000 |
| 19:48631051:TC:T | acceptor_gain | 1.0000 |
| 19:48631052:CC:C | acceptor_gain | 1.0000 |
| 19:48631052:CCTG:C | acceptor_loss | 1.0000 |
| 19:48631053:C:CA | acceptor_loss | 1.0000 |
| 19:48631053:C:CC | acceptor_gain | 1.0000 |
| 19:48631053:C:T | acceptor_gain | 1.0000 |
| 19:48631056:C:CT | acceptor_gain | 1.0000 |
| 19:48631057:A:T | acceptor_gain | 1.0000 |
| 19:48633440:TCA:T | donor_loss | 1.0000 |
| 19:48633441:CA:C | donor_loss | 1.0000 |
| 19:48633443:CCTT:C | donor_gain | 1.0000 |
| 19:48633655:CC:C | acceptor_loss | 1.0000 |
| 19:48633655:CCT:C | acceptor_gain | 1.0000 |
| 19:48633656:C:CC | acceptor_gain | 1.0000 |
| 19:48633656:C:CG | acceptor_loss | 1.0000 |
| 19:48633657:T:C | acceptor_gain | 1.0000 |
| 19:48633657:T:TC | acceptor_gain | 1.0000 |
| 19:48631054:T:A | acceptor_loss | 0.9900 |
| 19:48633442:A:AC | donor_gain | 0.9900 |
| 19:48633443:C:CC | donor_gain | 0.9900 |
| 19:48633475:G:A | donor_gain | 0.9900 |
| 19:48633651:CAGGC:C | acceptor_gain | 0.9900 |
| 19:48633652:AGGC:A | acceptor_gain | 0.9900 |
| 19:48633653:GGC:G | acceptor_gain | 0.9900 |
| 19:48633654:GC:G | acceptor_gain | 0.9900 |
| 19:48633656:C:T | acceptor_gain | 0.9900 |
AlphaMissense
2033 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:48630925:A:G | L297P | 1.000 |
| 19:48630935:T:C | N294D | 1.000 |
| 19:48630946:A:G | L290P | 1.000 |
| 19:48630946:A:T | L290Q | 1.000 |
| 19:48630948:G:C | F289L | 1.000 |
| 19:48630948:G:T | F289L | 1.000 |
| 19:48630949:A:G | F289S | 1.000 |
| 19:48630950:A:G | F289L | 1.000 |
| 19:48630956:C:G | A287P | 1.000 |
| 19:48630958:C:G | R286P | 1.000 |
| 19:48630967:A:C | I283R | 1.000 |
| 19:48630967:A:G | I283T | 1.000 |
| 19:48630967:A:T | I283K | 1.000 |
| 19:48630969:C:A | Q282H | 1.000 |
| 19:48630969:C:G | Q282H | 1.000 |
| 19:48630970:T:G | Q282P | 1.000 |
| 19:48630972:G:C | N281K | 1.000 |
| 19:48630972:G:T | N281K | 1.000 |
| 19:48630973:T:A | N281I | 1.000 |
| 19:48630975:C:A | E280D | 1.000 |
| 19:48630975:C:G | E280D | 1.000 |
| 19:48630976:T:A | E280V | 1.000 |
| 19:48630976:T:G | E280A | 1.000 |
| 19:48630977:C:T | E280K | 1.000 |
| 19:48630978:C:A | K279N | 1.000 |
| 19:48630978:C:G | K279N | 1.000 |
| 19:48630980:T:C | K279E | 1.000 |
| 19:48630982:A:G | L278P | 1.000 |
| 19:48630985:C:G | R277P | 1.000 |
| 19:48630989:G:C | R276G | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000184091 (19:48635832 A>G), RS1000188827 (19:48636088 G>A,T), RS1000393717 (19:48630499 G>T), RS1000474293 (19:48634608 C>A,G,T), RS1000524671 (19:48634747 G>A), RS1000743617 (19:48630144 T>C,G), RS1000762813 (19:48634639 CG>C), RS1001582568 (19:48629877 G>A,C,T), RS1001687773 (19:48635533 G>C), RS1001741857 (19:48635693 C>A,T), RS1002026500 (19:48634289 G>A), RS1002078688 (19:48634569 G>A,C), RS1002174230 (19:48637741 T>A,C,G), RS1002509892 (19:48636347 G>T), RS1003145124 (19:48631108 G>C)
Disease associations
OMIM: gene MIM:124097 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001241_6 | Bipolar disorder | 3.000000e-06 |
| GCST001729_25 | Crohn’s disease | 1.000000e-15 |
| GCST002485_1 | Elevated serum carcinoembryonic antigen levels | 2.000000e-12 |
| GCST010134_4 | Non-oily fish consumption | 3.000000e-16 |
| GCST010135_4 | Oily fish consumption | 2.000000e-16 |
| GCST010140_48 | Pork consumption | 2.000000e-16 |
| GCST90002388_377 | Lymphocyte count | 4.000000e-12 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005760 | serum carcinoembryonic antigen measurement |
| EFO:0008111 | diet measurement |
| EFO:0004587 | lymphocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | affects cotreatment, decreases expression | 3 |
| Nickel | decreases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| afuresertib | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| bisphenol A | increases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| avobenzone | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| entinostat | affects cotreatment, 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 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| KL001 | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Lead | affects expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Niclosamide | increases expression | 1 |
| Prednisolone | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 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.