ZBTB46
geneOn this page
Also known as FLJ13502RINZFBZEL
Summary
ZBTB46 (zinc finger and BTB domain containing 46, HGNC:16094) is a protein-coding gene on chromosome 20q13.33, encoding Zinc finger and BTB domain-containing protein 46 (Q86UZ6). Transcription regulator that mediates differentiation of conventional and non-conventional dendritic cells, and which is involved in tolerance to gut microbiota.
Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and transcription cis-regulatory region binding activity. Involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin.
Source: NCBI Gene 140685 — RefSeq curated summary.
At a glance
- GWAS associations: 24
- Clinical variants (ClinVar): 103 total
- MANE Select transcript:
NM_001369741
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16094 |
| Approved symbol | ZBTB46 |
| Name | zinc finger and BTB domain containing 46 |
| Location | 20q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ13502, RINZF, BZEL |
| Ensembl gene | ENSG00000130584 |
| Ensembl biotype | protein_coding |
| OMIM | 614639 |
| Entrez | 140685 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 11 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000245663, ENST00000395104, ENST00000460757, ENST00000480766, ENST00000650966, ENST00000906793, ENST00000906794, ENST00000906795, ENST00000906796, ENST00000912108, ENST00000912109, ENST00000947317, ENST00000947318, ENST00000947319
RefSeq mRNA: 2 — MANE Select: NM_001369741
NM_001369741, NM_025224
CCDS: CCDS13538
Canonical transcript exons
ENST00000245663 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000856639 | 63743670 | 63747301 |
| ENSE00001172488 | 63752686 | 63752861 |
| ENSE00001172501 | 63789821 | 63790790 |
| ENSE00001451279 | 63831097 | 63831264 |
| ENSE00003635371 | 63775678 | 63775962 |
Expression profiles
Bgee: expression breadth ubiquitous, 215 present calls, max score 90.72.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.2863 / max 46.9928, expressed in 951 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 188416 | 2.2863 | 951 |
Top tissues by expression
240 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oviduct epithelium | UBERON:0004804 | 90.72 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 89.69 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 87.71 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 87.48 | gold quality |
| cerebellar cortex | UBERON:0002129 | 87.40 | gold quality |
| cerebellum | UBERON:0002037 | 87.04 | gold quality |
| cartilage tissue | UBERON:0002418 | 86.88 | gold quality |
| visceral pleura | UBERON:0002401 | 85.60 | gold quality |
| sural nerve | UBERON:0015488 | 84.82 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 83.91 | silver quality |
| tibia | UBERON:0000979 | 83.88 | gold quality |
| apex of heart | UBERON:0002098 | 83.41 | gold quality |
| spleen | UBERON:0002106 | 82.75 | gold quality |
| parietal pleura | UBERON:0002400 | 82.45 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 81.79 | gold quality |
| right ovary | UBERON:0002118 | 81.28 | gold quality |
| left ovary | UBERON:0002119 | 81.02 | gold quality |
| ovary | UBERON:0000992 | 80.91 | gold quality |
| heart left ventricle | UBERON:0002084 | 80.69 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 80.36 | gold quality |
| cardiac ventricle | UBERON:0002082 | 80.35 | gold quality |
| corpus epididymis | UBERON:0004359 | 80.18 | gold quality |
| adenohypophysis | UBERON:0002196 | 79.98 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 79.76 | gold quality |
| pancreatic ductal cell | CL:0002079 | 79.50 | silver quality |
| left lobe of thyroid gland | UBERON:0001120 | 79.18 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 79.18 | gold quality |
| metanephros | UBERON:0000081 | 79.17 | gold quality |
| left uterine tube | UBERON:0001303 | 78.87 | gold quality |
| thyroid gland | UBERON:0002046 | 78.81 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6142 | no | 3.61 |
| E-ANND-3 | no | 3.09 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
137 targeting ZBTB46, 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-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-6798-5P | 100.00 | 65.77 | 699 |
| 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-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
Literature-anchored findings (GeneRIF, showing 8)
- A single nucleotide polymorphisn in ZBTB46, rs6062314, is associated with an increased genetic risk for multiple sclerosis. (PMID:23739915)
- Authors report a novel tumor promoter, ZBTB46, which is negatively regulated by AR signaling via microRNA (miR)-1-mediated downregulation. ZBTB46 is associated with malignant prostate cancer and is essential for metastasis. (PMID:28692046)
- ZBTB46 is able to clearly define the dendritic cell identity of many previously unclassified histiocytic disease subtypes. All examined cases of Langerhans cell histiocytosis and histiocytic sarcoma expressed ZBTB46, while all cases of blastic plasmacytoid dendritic cell neoplasm, chronic myelomonocytic leukemia, juvenile xanthogranuloma, Rosai-Dorfman disease, and Erdheim-Chester disease failed to express ZBTB46. (PMID:29743654)
- In vitro results using endothelial cells (ECs) showed that cell confluence and laminar shear stress, both known physiological conditions promoting EC quiescence, led to upregulation of ZBTB46 expression. (PMID:29884909)
- ZBTB46 is inversely correlated with SPDEF and is increased in higher tumor grades and small-cell NE prostate cancer (SCNC) patients, which are positively associated with PTGS1. Findings suggest that the induction of ZBTB46 results in increased PTGS1 expression, which is associated with NEPC progression and linked to the dysregulation of the AR-SPDEF pathway. (PMID:30312731)
- Nerve growth factor interacts with CHRM4 and promotes neuroendocrine differentiation of prostate cancer and castration resistance. (PMID:33398073)
- Single nucleotide variations in ZBTB46 are associated with post-thrombolytic parenchymal haematoma. (PMID:33723576)
- PCK1 regulates neuroendocrine differentiation in a positive feedback loop of LIF/ZBTB46 signalling in castration-resistant prostate cancer. (PMID:34815524)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zbtb46 | ENSDARG00000078191 |
| mus_musculus | Zbtb46 | ENSMUSG00000027583 |
| rattus_norvegicus | Zbtb46 | ENSRNOG00000014592 |
Paralogs (28): ZNF280C (ENSG00000056277), ZBTB25 (ENSG00000089775), PRDM13 (ENSG00000112238), BCL6 (ENSG00000113916), FEZF1 (ENSG00000128610), PRDM12 (ENSG00000130711), ZNF280D (ENSG00000137871), NACC2 (ENSG00000148411), FEZF2 (ENSG00000153266), ZBTB7B (ENSG00000160685), NACC1 (ENSG00000160877), BCL6B (ENSG00000161940), GFI1 (ENSG00000162676), GFI1B (ENSG00000165702), ZBTB49 (ENSG00000168826), ZNF280A (ENSG00000169548), ZNF581 (ENSG00000171425), ZNF524 (ENSG00000171443), ZBTB26 (ENSG00000171448), ZBTB21 (ENSG00000173276), ZNF683 (ENSG00000176083), ZBTB33 (ENSG00000177485), ZBTB3 (ENSG00000185670), ZBTB6 (ENSG00000186130), ZBTB14 (ENSG00000198081), ZBTB12 (ENSG00000204366), ZNF580 (ENSG00000213015), ZNF280B (ENSG00000275004)
Protein
Protein identifiers
Zinc finger and BTB domain-containing protein 46 — Q86UZ6 (reviewed: Q86UZ6)
Alternative names: BTB/POZ domain-containing protein 4, Zinc finger protein 340
All UniProt accessions (2): Q86UZ6, A0A494BZW5
UniProt curated annotations — full annotation on UniProt →
Function. Transcription regulator that mediates differentiation of conventional and non-conventional dendritic cells, and which is involved in tolerance to gut microbiota. Together with RORgammaT (RORC), specifically expressed in type 3 innate lymphoid cells (ILC3s) that are required for tolerance to gut microbiota, to mediate differentiation of peripherally-induced regulatory T-cells (pTreg), which suppress inflammatory responses to commensal microorganisms. Functions as a transcription corepressor for PRDM1.
Subcellular location. Nucleus. Chromosome.
Post-translational modifications. Sumoylated. Desumoylation by DESI1 reverses transcriptional repression activity.
RefSeq proteins (2): NP_001356670, NP_079500 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000210 | BTB/POZ_dom | Domain |
| IPR011333 | SKP1/BTB/POZ_sf | Homologous_superfamily |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR050457 | ZnFinger_BTB_dom_contain | Family |
Pfam: PF00651, PF13465
UniProt features (12 total): compositionally biased region 3, zinc finger region 2, region of interest 2, chain 1, domain 1, cross-link 1, sequence variant 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86UZ6-F1 | 55.56 | 0.09 |
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): 229, 234
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 148 (showing top):
GOBP_MYELOID_CELL_DIFFERENTIATION, GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GOBP_DENDRITIC_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, GOBP_TOLERANCE_INDUCTION, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_REGULATION_OF_DENDRITIC_CELL_DIFFERENTIATION, TGCACTT_MIR519C_MIR519B_MIR519A, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MYELOID_LEUKOCYTE_DIFFERENTIATION, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, GOBP_ORGAN_OR_TISSUE_SPECIFIC_IMMUNE_RESPONSE
GO Biological Process (14): negative regulation of transcription by RNA polymerase II (GO:0000122), plasmacytoid dendritic cell differentiation (GO:0002273), tolerance induction in gut-associated lymphoid tissue (GO:0002394), negative regulation of leukocyte activation (GO:0002695), regulation of transcription by RNA polymerase II (GO:0006357), macrophage differentiation (GO:0030225), granulocyte differentiation (GO:0030851), negative regulation of granulocyte differentiation (GO:0030853), regulatory T cell differentiation (GO:0045066), negative regulation of macrophage differentiation (GO:0045650), negative regulation of monocyte differentiation (GO:0045656), negative regulation of dendritic cell differentiation (GO:2001199), positive regulation of dendritic cell differentiation (GO:2001200), dendritic cell differentiation (GO:0097028)
GO Molecular Function (7): transcription cis-regulatory region binding (GO:0000976), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), transcription coregulator activity (GO:0003712), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| dendritic cell differentiation | 3 |
| negative regulation of myeloid leukocyte differentiation | 3 |
| regulation of transcription by RNA polymerase II | 2 |
| transcription by RNA polymerase II | 2 |
| myeloid leukocyte differentiation | 2 |
| mononuclear cell differentiation | 2 |
| regulation of dendritic cell differentiation | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| negative regulation of DNA-templated transcription | 1 |
| plasmacytoid dendritic cell activation | 1 |
| immune response in gut-associated lymphoid tissue | 1 |
| tolerance induction in mucosal-associated lymphoid tissue | 1 |
| negative regulation of immune system process | 1 |
| regulation of leukocyte activation | 1 |
| leukocyte activation | 1 |
| negative regulation of cell activation | 1 |
| regulation of DNA-templated transcription | 1 |
| granulocyte differentiation | 1 |
| regulation of granulocyte differentiation | 1 |
| T cell differentiation | 1 |
| macrophage differentiation | 1 |
| regulation of macrophage differentiation | 1 |
| monocyte differentiation | 1 |
| regulation of monocyte differentiation | 1 |
| negative regulation of leukocyte differentiation | 1 |
| positive regulation of leukocyte differentiation | 1 |
| transcription regulatory region nucleic acid binding | 1 |
| sequence-specific double-stranded DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| negative regulation of transcription by RNA polymerase II | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription repressor activity | 1 |
| transcription regulator activity | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
946 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZBTB46 | BATF3 | Q9NR55 | 712 |
| ZBTB46 | XCR1 | P46094 | 712 |
| ZBTB46 | MPPE1 | Q53F39 | 644 |
| ZBTB46 | ITGAE | P38570 | 620 |
| ZBTB46 | ITGAX | P20702 | 620 |
| ZBTB46 | IRF8 | Q02556 | 614 |
| ZBTB46 | FLT3 | P36888 | 608 |
| ZBTB46 | IRF4 | Q15306 | 583 |
| ZBTB46 | CLEC9A | Q6UXN8 | 582 |
| ZBTB46 | ITGAM | P11215 | 570 |
| ZBTB46 | FCGR1A | P12314 | 517 |
| ZBTB46 | CCR7 | P32248 | 516 |
| ZBTB46 | FLT3LG | P49771 | 507 |
| ZBTB46 | SIRPA | P78324 | 507 |
| ZBTB46 | SMIM24 | O75264 | 490 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CUL1 | LGALS8 | psi-mi:“MI:0914”(association) | 0.350 |
| ZBTB46 | SNRNP200 | psi-mi:“MI:0914”(association) | 0.350 |
| ZBTB46 | AP2A2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (59): EHMT1 (Affinity Capture-MS), PRPF8 (Affinity Capture-MS), GATAD2B (Affinity Capture-MS), GATAD2A (Affinity Capture-MS), MBD3 (Affinity Capture-MS), MTA1 (Affinity Capture-MS), AP2A1 (Affinity Capture-MS), AP2A2 (Affinity Capture-MS), RGPD5 (Affinity Capture-MS), DDX23 (Affinity Capture-MS), ZBTB10 (Affinity Capture-MS), EHMT2 (Affinity Capture-MS), FBXL17 (Affinity Capture-MS), BTRC (Affinity Capture-MS), FBXW11 (Affinity Capture-MS)
ESM2 similar proteins: A0JN76, A1L2U9, B1WAZ8, B1WBU4, O15060, O35260, O43298, O93567, P14404, P41182, P41183, Q05516, Q0IH98, Q0IJ29, Q0P4X6, Q0V8G8, Q0VCJ6, Q15916, Q1L8W0, Q3B725, Q3SWU4, Q5TC79, Q5ZM39, Q6NRM8, Q6P882, Q6YND2, Q7TQG0, Q7TSZ8, Q7ZWZ4, Q801P1, Q80X44, Q86UZ6, Q8BID6, Q8CII0, Q8K088, Q8K0L9, Q8N680, Q8NAP8, Q8NCN2, Q8NCP5
Diamond homologs: A0JN76, A1L2U9, A1YEX3, A1YPR0, A2AAX3, B1WAZ8, B1WBS3, B1WBU4, B2RXF5, D3ZA50, O14867, O15062, O15156, O15209, O43167, O43298, O43829, O88282, O88939, O93567, O95365, P24278, P41182, P41183, P52739, P97302, P97303, Q08376, Q0IH98, Q0IJ29, Q0P4X6, Q0VCJ6, Q13105, Q14526, Q1H9T6, Q1L8W0, Q2T9Z7, Q3B725, Q3B7N9, Q3SWU4
SIGNOR signaling
5 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ZBTB46 | “up-regulates quantity by expression” | PCK1 | “transcriptional regulation” |
| ZBTB46 | “up-regulates quantity by expression” | LIF | “transcriptional regulation” |
| AR | “down-regulates quantity by repression” | ZBTB46 | “transcriptional regulation” |
| ZBTB46 | up-regulates | “Neuroendocrine cell differentiation” | |
| ZBTB46 | “up-regulates quantity by expression” | PTGS1 | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
103 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 93 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2606 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:63752682:TCACC:T | donor_loss | 1.0000 |
| 20:63752683:CA:C | donor_loss | 1.0000 |
| 20:63752684:A:AC | donor_gain | 1.0000 |
| 20:63752685:C:CC | donor_gain | 1.0000 |
| 20:63752685:CCAG:C | donor_gain | 1.0000 |
| 20:63752857:ATTCA:A | acceptor_gain | 1.0000 |
| 20:63752858:TTCA:T | acceptor_gain | 1.0000 |
| 20:63752859:TCA:T | acceptor_gain | 1.0000 |
| 20:63752860:CA:C | acceptor_gain | 1.0000 |
| 20:63752860:CAC:C | acceptor_gain | 1.0000 |
| 20:63752861:AC:A | acceptor_loss | 1.0000 |
| 20:63752862:C:CC | acceptor_gain | 1.0000 |
| 20:63752862:CTGAA:C | acceptor_loss | 1.0000 |
| 20:63752863:T:A | acceptor_loss | 1.0000 |
| 20:63775676:A:AC | donor_gain | 1.0000 |
| 20:63775677:C:CC | donor_gain | 1.0000 |
| 20:63775677:CGGGA:C | donor_gain | 1.0000 |
| 20:63775960:CAT:C | acceptor_gain | 1.0000 |
| 20:63775963:C:CC | acceptor_gain | 1.0000 |
| 20:63783515:T:A | donor_gain | 1.0000 |
| 20:63790789:CT:C | acceptor_gain | 1.0000 |
| 20:63831091:GCTTA:G | donor_loss | 1.0000 |
| 20:63831092:CTTA:C | donor_loss | 1.0000 |
| 20:63831093:TTA:T | donor_loss | 1.0000 |
| 20:63831094:TA:T | donor_loss | 1.0000 |
| 20:63831095:ACC:A | donor_loss | 1.0000 |
| 20:63831096:C:CT | donor_loss | 1.0000 |
| 20:63746994:T:TA | donor_gain | 0.9900 |
| 20:63752679:CACT:C | donor_loss | 0.9900 |
| 20:63752680:ACTC:A | donor_loss | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000021453 (20:63816729 T>C), RS1000050635 (20:63827851 A>G), RS1000060675 (20:63750934 A>C), RS1000078560 (20:63831471 G>A,C), RS1000088133 (20:63818184 G>A), RS1000130539 (20:63752168 C>T), RS1000140913 (20:63765248 G>A), RS1000146367 (20:63796825 CA>C,CAA), RS1000171247 (20:63797517 C>T), RS1000246629 (20:63797141 A>G), RS1000267801 (20:63768308 T>A), RS1000277065 (20:63765425 T>C,G), RS1000317945 (20:63833418 C>T), RS1000324298 (20:63745646 G>A), RS1000341311 (20:63827561 T>C)
Disease associations
OMIM: gene MIM:614639 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
24 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000964_24 | Ulcerative colitis | 2.000000e-10 |
| GCST001198_86 | Multiple sclerosis | 1.000000e-07 |
| GCST001762_811 | Obesity-related traits | 4.000000e-06 |
| GCST001942_22 | Prostate cancer | 4.000000e-16 |
| GCST004131_34 | Inflammatory bowel disease | 3.000000e-26 |
| GCST004132_110 | Crohn’s disease | 3.000000e-13 |
| GCST004133_15 | Ulcerative colitis | 9.000000e-17 |
| GCST005194_66 | Coronary artery disease | 2.000000e-06 |
| GCST007563_15 | Allergic disease (asthma, hay fever or eczema) | 3.000000e-08 |
| GCST007564_6 | Asthma or allergic disease (pleiotropy) | 3.000000e-10 |
| GCST007930_100 | Medication use (agents acting on the renin-angiotensin system) | 4.000000e-17 |
| GCST008362_127 | Birth weight | 2.000000e-11 |
| GCST008723_7 | Marginal zone lymphoma or multiple sclerosis | 2.000000e-08 |
| GCST008916_69 | Asthma | 3.000000e-09 |
| GCST009380_9 | Type 2 diabetes (adjusted for BMI) | 6.000000e-06 |
| GCST009640_57 | Urinary albumin-to-creatinine ratio | 2.000000e-08 |
| GCST009856_14 | Leukocyte telomere length | 6.000000e-12 |
| GCST009856_21 | Leukocyte telomere length | 3.000000e-10 |
| GCST010132_3 | Processed meat consumption | 1.000000e-09 |
| GCST010143_12 | Meat-related diet | 7.000000e-09 |
| GCST010266_17 | Femoral neck bone mineral density and trunk fat mass adjusted by trunk lean mass | 8.000000e-07 |
| GCST010267_6 | Trunk fat mass adjusted for trunk lean mass | 2.000000e-07 |
| GCST90000047_267 | Age at first sexual intercourse | 1.000000e-09 |
| GCST90002392_119 | Mean corpuscular volume | 3.000000e-10 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004458 | C-reactive protein measurement |
| EFO:0009931 | Agents acting on the renin-angiotensin system use measurement |
| EFO:0004344 | birth weight |
| EFO:0007778 | urinary albumin to creatinine ratio |
| EFO:0008111 | diet measurement |
| EFO:0007785 | femoral neck bone mineral density |
| EFO:0009749 | age at first sexual intercourse measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | affects cotreatment, decreases expression, increases expression | 3 |
| Valproic Acid | increases expression, increases methylation | 3 |
| sodium arsenite | increases abundance, increases expression | 2 |
| Arsenic | affects methylation, increases abundance, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 2 |
| dicrotophos | decreases expression | 1 |
| arsenite | increases methylation | 1 |
| benzo(e)pyrene | increases methylation | 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 |
| Decitabine | affects expression | 1 |
| Vorinostat | decreases expression | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Cisplatin | affects expression | 1 |
| Coumestrol | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Lead | decreases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Niclosamide | increases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Polychlorinated Biphenyls | affects expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | decreases methylation | 1 |
| Tretinoin | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Acrylamide | increases expression | 1 |
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): marginal zone lymphoma