ZBTB20
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Also known as ODA-8SDKFZp566F123DPZF
Summary
ZBTB20 (zinc finger and BTB domain containing 20, HGNC:13503) is a protein-coding gene on chromosome 3q13.31, encoding Zinc finger and BTB domain-containing protein 20 (Q9HC78). May be a transcription factor that may be involved in hematopoiesis, oncogenesis, and immune responses.
This gene, which was initially designated as dendritic cell-derived BTB/POZ zinc finger (DPZF), belongs to a family of transcription factors with an N-terminal BTB/POZ domain and a C-terminal DNA-bindng zinc finger domain. The BTB/POZ domain is a hydrophobic region of approximately 120 aa which mediates association with other BTB/POZ domain-containing proteins. This gene acts as a transcriptional repressor and plays a role in many processes including neurogenesis, glucose homeostasis, and postnatal growth. Mutations in this gene have been associated with Primrose syndrome as well as the 3q13.31 microdeletion syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.
Source: NCBI Gene 26137 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Primrose syndrome (Definitive, ClinGen) — +1 more curated relationship
- GWAS associations: 30
- Clinical variants (ClinVar): 466 total — 45 pathogenic, 41 likely-pathogenic
- Phenotypes (HPO): 105
- Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 1 cancer types
- MANE Select transcript:
NM_001348800
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13503 |
| Approved symbol | ZBTB20 |
| Name | zinc finger and BTB domain containing 20 |
| Location | 3q13.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ODA-8S, DKFZp566F123, DPZF |
| Ensembl gene | ENSG00000181722 |
| Ensembl biotype | protein_coding |
| OMIM | 606025 |
| Entrez | 26137 |
Gene structure
Transcript identifiers
Ensembl transcripts: 360 — 348 protein_coding, 12 protein_coding_CDS_not_defined
ENST00000357258, ENST00000462705, ENST00000463497, ENST00000463890, ENST00000464560, ENST00000468769, ENST00000470186, ENST00000470311, ENST00000470556, ENST00000471418, ENST00000474710, ENST00000479879, ENST00000480832, ENST00000481632, ENST00000482689, ENST00000486152, ENST00000488663, ENST00000491500, ENST00000492665, ENST00000675478, ENST00000676079, ENST00000704358, ENST00000704360, ENST00000704361, ENST00000895172, ENST00000895173, ENST00000895174, ENST00000895175, ENST00000895176, ENST00000895177, ENST00000895178, ENST00000895179, ENST00000895180, ENST00000895181, ENST00000895182, ENST00000895183, ENST00000895184, ENST00000895185, ENST00000895186, ENST00000895187, ENST00000895189, ENST00000895190, ENST00000895191, ENST00000895192, ENST00000895193, ENST00000895194, ENST00000895195, ENST00000895196, ENST00000895197, ENST00000895198, ENST00000895199, ENST00000895200, ENST00000895201, ENST00000895202, ENST00000895203, ENST00000895204, ENST00000895205, ENST00000895206, ENST00000895207, ENST00000895208, ENST00000895209, ENST00000895210, ENST00000895211, ENST00000895212, ENST00000895213, ENST00000895214, ENST00000895215, ENST00000895216, ENST00000895217, ENST00000895218, ENST00000895219, ENST00000895220, ENST00000895221, ENST00000895222, ENST00000895223, ENST00000895224, ENST00000895225, ENST00000895226, ENST00000895227, ENST00000895228, ENST00000895229, ENST00000895230, ENST00000895231, ENST00000895232, ENST00000895233, ENST00000895234, ENST00000895235, ENST00000895236, ENST00000895237, ENST00000895238, ENST00000895239, ENST00000895240, ENST00000895241, ENST00000895242, ENST00000895243, ENST00000895244, ENST00000895245, ENST00000895246, ENST00000895247, ENST00000895248, ENST00000895249, ENST00000895250, ENST00000895251, ENST00000895252, ENST00000895253, ENST00000895254, ENST00000895255, ENST00000895256, ENST00000895257, ENST00000895258, ENST00000895259, ENST00000895260, ENST00000895261, ENST00000895262, ENST00000895263, ENST00000895264, ENST00000895265, ENST00000895266, ENST00000895267, ENST00000895268, ENST00000895269, ENST00000895270, ENST00000895271, ENST00000895272, ENST00000895273, ENST00000895274, ENST00000895275, ENST00000895276, ENST00000895277, ENST00000895278, ENST00000895279, ENST00000895280, ENST00000895281, ENST00000895282, ENST00000895283, ENST00000895284, ENST00000895285, ENST00000895286, ENST00000895287, ENST00000895288, ENST00000895289, ENST00000895290, ENST00000895291, ENST00000895292, ENST00000895293, ENST00000895294, ENST00000895295, ENST00000895296, ENST00000895297, ENST00000895298, ENST00000895299, ENST00000895300, ENST00000895301, ENST00000895302, ENST00000895303, ENST00000895304, ENST00000895305, ENST00000895306, ENST00000895307, ENST00000895308, ENST00000895309, ENST00000895310, ENST00000895311, ENST00000895312, ENST00000895313, ENST00000895314, ENST00000895315, ENST00000895316, ENST00000895317, ENST00000895318, ENST00000895319, ENST00000895320, ENST00000895321, ENST00000895322, ENST00000895323, ENST00000895324, ENST00000895325, ENST00000895326, ENST00000895327, ENST00000895328, ENST00000895329, ENST00000895330, ENST00000895331, ENST00000895332, ENST00000895333, ENST00000895334, ENST00000895335, ENST00000895336, ENST00000895337, ENST00000895338, ENST00000895339, ENST00000895340, ENST00000895341, ENST00000895342, ENST00000895343, ENST00000895344, ENST00000895345, ENST00000895346, ENST00000895347, ENST00000895348, ENST00000895349, ENST00000895350, ENST00000895351, ENST00000895352, ENST00000895353, ENST00000895354, ENST00000895355, ENST00000895356, ENST00000895357, ENST00000895358, ENST00000895359, ENST00000895360, ENST00000895361, ENST00000895362, ENST00000895363, ENST00000895364, ENST00000895365, ENST00000895366, ENST00000895367, ENST00000895368, ENST00000895369, ENST00000895370, ENST00000895371, ENST00000895372, ENST00000895373, ENST00000895374, ENST00000895375, ENST00000895376, ENST00000895377, ENST00000895378, ENST00000895379, ENST00000895380, ENST00000895381, ENST00000895382, ENST00000895383, ENST00000895384, ENST00000895385, ENST00000936831, ENST00000959122, ENST00000959123, ENST00000959124, ENST00000959125, ENST00000959126, ENST00000959127, ENST00000959128, ENST00000959129, ENST00000959130, ENST00000959131, ENST00000959132, ENST00000959133, ENST00000959134, ENST00000959135, ENST00000959136, ENST00000959137, ENST00000959138, ENST00000959139, ENST00000959140, ENST00000959141, ENST00000959142, ENST00000959143, ENST00000959144, ENST00000959145, ENST00000959146, ENST00000959147, ENST00000959148, ENST00000959149, ENST00000959150, ENST00000959151, ENST00000959152, ENST00000959153, ENST00000959154, ENST00000959155, ENST00000959156, ENST00000959157, ENST00000959158, ENST00000959159, ENST00000959160, ENST00000959161, ENST00000959162, ENST00000959163, ENST00000959164, ENST00000959165, ENST00000959166, ENST00000959167, ENST00000959168, ENST00000959169, ENST00000959170, ENST00000959171, ENST00000959172, ENST00000959173, ENST00000959174, ENST00000959175, ENST00000959176, ENST00000959177, ENST00000959178, ENST00000959179, ENST00000959180, ENST00000959181, ENST00000959182, ENST00000959183, ENST00000959184, ENST00000959185, ENST00000959186, ENST00000959187, ENST00000959188, ENST00000959189, ENST00000959190, ENST00000959191, ENST00000959192, ENST00000959193, ENST00000959194, ENST00000959195, ENST00000959196, ENST00000959197, ENST00000959198, ENST00000959199, ENST00000959200, ENST00000959201, ENST00000959202, ENST00000959203, ENST00000959204, ENST00000959205, ENST00000959206, ENST00000959207, ENST00000959208, ENST00000959209, ENST00000959210, ENST00000959211, ENST00000959212, ENST00000959213, ENST00000959214, ENST00000959215, ENST00000959216, ENST00000959217, ENST00000959218, ENST00000959219, ENST00000959220, ENST00000959221, ENST00000959222, ENST00000959223, ENST00000959224, ENST00000959225, ENST00000959226, ENST00000959227, ENST00000959228, ENST00000959229, ENST00000959230, ENST00000959231, ENST00000959232, ENST00000959233, ENST00000959234, ENST00000959235, ENST00000959236, ENST00000959237, ENST00000959238, ENST00000959239, ENST00000959240, ENST00000959241, ENST00000959242, ENST00000959243
RefSeq mRNA: 17 — MANE Select: NM_001348800
NM_001164342, NM_001164343, NM_001164344, NM_001164345, NM_001164346, NM_001164347, NM_001348800, NM_001348801, NM_001348802, NM_001348803, NM_001348804, NM_001348805, NM_001393393, NM_001393394, NM_001393395, NM_001393396, NM_015642
CCDS: CCDS2981, CCDS54626
Canonical transcript exons
ENST00000675478 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001288600 | 114693528 | 114693575 |
| ENSE00001288620 | 114389005 | 114389105 |
| ENSE00001288629 | 114500352 | 114500391 |
| ENSE00001421726 | 114900304 | 114900342 |
| ENSE00001423792 | 114974366 | 114974416 |
| ENSE00001425485 | 114801101 | 114801174 |
| ENSE00001927190 | 114380777 | 114380940 |
| ENSE00003518001 | 114380217 | 114380404 |
| ENSE00003683151 | 114350274 | 114351878 |
| ENSE00003899242 | 114314500 | 114339426 |
| ENSE00003900755 | 115071219 | 115071414 |
| ENSE00003902523 | 115147219 | 115147288 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 99.38.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.3908 / max 716.5414, expressed in 1584 samples.
FANTOM5 promoters (31 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 43896 | 7.0779 | 1063 |
| 43923 | 4.3740 | 1072 |
| 43922 | 4.0162 | 745 |
| 43897 | 1.8295 | 736 |
| 43924 | 1.2867 | 543 |
| 43888 | 0.9315 | 207 |
| 43921 | 0.7929 | 231 |
| 43895 | 0.5016 | 256 |
| 43894 | 0.4629 | 181 |
| 43898 | 0.4496 | 240 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| corpus epididymis | UBERON:0004359 | 99.38 | gold quality |
| caput epididymis | UBERON:0004358 | 99.30 | gold quality |
| cauda epididymis | UBERON:0004360 | 99.28 | gold quality |
| renal medulla | UBERON:0000362 | 98.55 | gold quality |
| corpus callosum | UBERON:0002336 | 98.50 | gold quality |
| calcaneal tendon | UBERON:0003701 | 98.47 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 98.39 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 98.33 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 98.17 | gold quality |
| gluteal muscle | UBERON:0002000 | 98.16 | gold quality |
| urethra | UBERON:0000057 | 98.06 | gold quality |
| synovial joint | UBERON:0002217 | 98.05 | gold quality |
| tendon | UBERON:0000043 | 98.02 | gold quality |
| nipple | UBERON:0002030 | 97.98 | gold quality |
| globus pallidus | UBERON:0001875 | 97.97 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 97.91 | gold quality |
| medial globus pallidus | UBERON:0002477 | 97.89 | gold quality |
| saphenous vein | UBERON:0007318 | 97.80 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 97.79 | gold quality |
| lower lobe of lung | UBERON:0008949 | 97.78 | gold quality |
| tibia | UBERON:0000979 | 97.76 | gold quality |
| biceps brachii | UBERON:0001507 | 97.74 | gold quality |
| cranial nerve II | UBERON:0000941 | 97.73 | gold quality |
| ventral tegmental area | UBERON:0002691 | 97.62 | gold quality |
| vena cava | UBERON:0004087 | 97.59 | gold quality |
| triceps brachii | UBERON:0001509 | 97.58 | gold quality |
| medulla oblongata | UBERON:0001896 | 97.43 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 97.35 | gold quality |
| mammary duct | UBERON:0001765 | 97.32 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 97.28 | gold quality |
Single-cell (SCXA)
Detected in 18 experiment(s), a significant marker in 17.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6819 | yes | 8604.47 |
| E-CURD-119 | yes | 6131.92 |
| E-MTAB-8142 | yes | 962.99 |
| E-MTAB-11121 | yes | 859.61 |
| E-HCAD-35 | yes | 83.13 |
| E-HCAD-25 | yes | 54.46 |
| E-HCAD-6 | yes | 37.39 |
| E-GEOD-84465 | yes | 26.55 |
| E-HCAD-5 | yes | 24.35 |
| E-MTAB-10553 | yes | 22.96 |
| E-GEOD-81608 | yes | 18.23 |
| E-MTAB-8410 | yes | 17.79 |
| E-MTAB-9543 | yes | 13.76 |
| E-CURD-46 | yes | 9.87 |
| E-MTAB-6678 | yes | 9.63 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
3 targets.
| Target | Regulation |
|---|---|
| AFP | Repression |
| FBP1 | |
| NFKBIA | Repression |
Upstream regulators (CollecTRI, top): IRF4, NR1I2
miRNA regulators (miRDB)
908 targeting ZBTB20, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
Literature-anchored findings (GeneRIF, showing 35)
- Misexpression of Zbtb20 in transgenic mice converts the normal cytoarchitectonic organization of the subiculum, postsubiculum, and granular retrosplenial cortex to a CA1-like stratum pyramidale. (PMID:19955470)
- ZBTB20 mRNA & protein expression were elevated significantly in HCC tissues compared with the paired non-tumor tissues & normal liver. HCC recurrence or metastasis increased & disease-free survival decreased with high ZBTB20 expression. (PMID:21702992)
- We identified new susceptibility loci for non-cardia gastric cancer at 3q13.31: rs9841504 in ZBTB20 (PMID:22037551)
- This study disclosed Zbtb20-mediated transcriptional repressor mechanism may be involved in development of the human archicortex. (PMID:23283686)
- Polymorphism in ZBTB20 gene is associated with gastric cancer. (PMID:23861218)
- Major depressive disorder is associated with significant hypermethylation within the coding region of ZBTB20. (PMID:24694013)
- Missense mutations in ZBTB20 underlie Primrose syndrome. (PMID:25017102)
- 3q13.31 microdeletion-based dosage imbalance of ZBTB20 linked to a range of neurodevelopmental, cognitive and psychiatric disorders, likely mediated by dysregulation of multiple ZBTB20 target genes. (PMID:25062845)
- important role for ZBTB20 in controlling NSCLC development (PMID:25311537)
- High ZBTB20 expression is associated with hepatocellular carcinoma. (PMID:26893361)
- We report a boy with intellectual disability carrying two de novo missense mutations in the last exon of ZBTB20 (Ser616Phe and Gly741Arg; both previously unreported). One of them, Ser616Phe, affects an amino acid located in one of the C2H2 zing-fingers involved in DNA-binding and close to other missense mutations already described. Reverse phenotyping showed that this patient presents with classic features of Primrose syn (PMID:27061120)
- ZBTB20 rs9841504 polymorphism is a protective factor for gastric cancer rather than esophageal cancer. (PMID:27646774)
- we report novel de novo ZBTB20 mutations in three independent cases with characteristic features of Primrose syndrome including constant CCA. (PMID:29681083)
- Our data document that both mutations have dominant negative impact on wild-type ZBTB20, providing further evidence of the specific behavior of Primrose syndrome (PS)-causing mutations on ZBTB20 function. (PMID:29737001)
- ZBTB20 knockdown inhibited glioblastoma cell proliferation, migration, and invasion. (PMID:30099442)
- ZBTB20 is a candidate susceptibility gene for seasonal affective disorder (PMID:30217971)
- Two ZBTB20 single nucleotide variants, located at the N-terminal and central regions of the protein and potentially conferring autism risk, altered dendritic spine morphology. In contrast, a single nucleotide variant identified in patients with intellectual disability and located at the C-terminus of ZBTB20 affected dendritic arborization and dendritic length but had no effect on dendritic spine morphology (PMID:30281617)
- Long non-coding RNA LINC00641 promotes cell growth and migration through modulating miR-378a/ZBTB20 axis in acute myeloid leukemia. (PMID:31539138)
- an important role for ZBTB20 in controlling gastric cancer development (PMID:31556767)
- Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation. (PMID:31821719)
- Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20. (PMID:32071410)
- The diagnostic challenges and clinical course of a myeloid/lymphoid neoplasm with eosinophilia and ZBTB20-JAK2 gene fusion presenting as B-lymphoblastic leukemia. (PMID:32238402)
- Primrose syndrome: Characterization of the phenotype in 42 patients. (PMID:32266967)
- HBV DNA integrates into upregulated ZBTB20 in patients with hepatocellular carcinoma. (PMID:32319639)
- Prediction of gastric cancer risk: association between ZBTB20 genetic variance and gastric cancer risk in Chinese Han population. (PMID:32936247)
- LncRNA SNHG8 promotes cell migration and invasion in breast cancer cell through miR-634/ZBTB20 axis. (PMID:33275231)
- ZBTB20 Positively Regulates Oxidative Stress, Mitochondrial Fission, and Inflammatory Responses of ox-LDL-Induced Macrophages in Atherosclerosis. (PMID:33777314)
- An association study in the Taiwan Biobank elicits three novel candidates for cognitive aging in old adults: NCAM1, TTC12 and ZBTB20. (PMID:34285142)
- Circ-SFMBT2 facilitates the malignant growth of acute myeloid leukemia cells by modulating miR-582-3p/ZBTB20 pathway. (PMID:34825699)
- Spatial control of astrogenesis progression by cortical arealization genes. (PMID:35818636)
- The long non-coding RNA KLF3-AS1/miR-10a-3p/ZBTB20 axis improves the degenerative changes in human nucleus pulposus cells. (PMID:37052702)
- Circ_0001602 aggravates the progression of acute myeloid leukemia by regulating the miR-192-5p/ZBTB20 axis. (PMID:37585722)
- Transcription Factor Zbtb20 as a Regulator of Malignancy and Its Practical Applications. (PMID:37762065)
- Zinc Finger and BTB Domain-Containing 20: A Newly Emerging Player in Pathogenesis and Development of Human Cancers. (PMID:38397429)
- [Le miR-224-5p regule sert de biomarqueur pour l’insuffisance hepatique aigue pediatrique et regule l’inflammation en modulant ZBTB20]. (PMID:38638020)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zbtb20 | ENSDARG00000005586 |
| mus_musculus | Zbtb20 | ENSMUSG00000022708 |
| rattus_norvegicus | Zbtb20 | ENSRNOG00000056716 |
Paralogs (36): ZBTB32 (ENSG00000011590), SNAI2 (ENSG00000019549), PRDM1 (ENSG00000057657), PRDM6 (ENSG00000061455), ZNF76 (ENSG00000065029), PATZ1 (ENSG00000100105), MAZ (ENSG00000103495), ZBTB16 (ENSG00000109906), ZNF451 (ENSG00000112200), ZBTB45 (ENSG00000119574), ZNF410 (ENSG00000119725), SNAI1 (ENSG00000124216), ZNF384 (ENSG00000126746), ZBTB1 (ENSG00000126804), VEZF1 (ENSG00000136451), PRDM14 (ENSG00000147596), ZNF276 (ENSG00000158805), ZNF362 (ENSG00000160094), ZNF653 (ENSG00000161914), ZNF281 (ENSG00000162702), ZNF148 (ENSG00000163848), ZNF143 (ENSG00000166478), HIC2 (ENSG00000169635), PRDM10 (ENSG00000170325), ZNF296 (ENSG00000170684), ZNF692 (ENSG00000171163), ZNF575 (ENSG00000176472), HIC1 (ENSG00000177374), ZBTB18 (ENSG00000179456), ZBTB42 (ENSG00000179627), ZBTB7C (ENSG00000184828), SNAI3 (ENSG00000185669), ZFP91 (ENSG00000186660), MTF1 (ENSG00000188786), SCRT2 (ENSG00000215397), SCRT1 (ENSG00000261678)
Protein
Protein identifiers
Zinc finger and BTB domain-containing protein 20 — Q9HC78 (reviewed: Q9HC78)
Alternative names: Dendritic-derived BTB/POZ zinc finger protein, Zinc finger protein 288
All UniProt accessions (4): Q9HC78, A0A994J4D3, C9JCX0, C9JUH0
UniProt curated annotations — full annotation on UniProt →
Function. May be a transcription factor that may be involved in hematopoiesis, oncogenesis, and immune responses. Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal.
Subunit / interactions. Can homodimerize. Binds to DNA.
Subcellular location. Nucleus.
Tissue specificity. Expressed in spleen, lymph node, thymus, peripheral blood leukocytes, and fetal liver.
Post-translational modifications. Sumoylated with SUMO1.
Disease relevance. Primrose syndrome (PRIMS) [MIM:259050] A disease characterized by macrocephaly, intellectual disability, disturbed behavior, dysmorphic facial features, ectopic calcifications, large calcified ear auricles, and progressive muscle wasting. The disease is caused by variants affecting the gene represented in this entry.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9HC78-1 | 1 | yes |
| Q9HC78-2 | 2 |
RefSeq proteins (17): NP_001157814, NP_001157815, NP_001157816, NP_001157817, NP_001157818, NP_001157819, NP_001335729, NP_001335730, NP_001335731, NP_001335732, NP_001335733, NP_001335734, NP_001380322, NP_001380323, NP_001380324, NP_001380325, NP_056457 (=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: PF00096, PF00651
UniProt features (36 total): sequence conflict 7, compositionally biased region 5, modified residue 5, zinc finger region 5, cross-link 4, sequence variant 4, region of interest 3, chain 1, domain 1, splice variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9KH2 | X-RAY DIFFRACTION | 2.59 |
| 9JZT | X-RAY DIFFRACTION | 3.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HC78-F1 | 53.05 | 0.01 |
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 (9): 211, 353, 357, 690, 695, 330, 330, 371, 723
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 965 (showing top):
AHRARNT_01, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION, BASSO_B_LYMPHOCYTE_NETWORK, XU_GH1_AUTOCRINE_TARGETS_UP, GOBP_CELLULAR_RESPONSE_TO_CARBOHYDRATE_STIMULUS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, HASLINGER_B_CLL_WITH_MUTATED_VH_GENES, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, LHX3_01, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND
GO Biological Process (12): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of cytokine production (GO:0001817), regulation of immune system process (GO:0002682), negative regulation of gene expression (GO:0010629), positive regulation of interferon-beta production (GO:0032728), positive regulation of interleukin-6 production (GO:0032755), positive regulation of tumor necrosis factor production (GO:0032760), positive regulation of glycolytic process (GO:0045821), positive regulation of lipid biosynthetic process (GO:0046889), lipid homeostasis (GO:0055088), cellular response to glucose stimulus (GO:0071333), negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (8): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), zinc ion binding (GO:0008270), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), nuclear body (GO:0016604)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of gene expression | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| cellular anatomical structure | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| cytokine production | 1 |
| regulation of multicellular organismal process | 1 |
| immune system process | 1 |
| regulation of biological process | 1 |
| gene expression | 1 |
| negative regulation of macromolecule biosynthetic process | 1 |
| positive regulation of type I interferon production | 1 |
| interferon-beta production | 1 |
| regulation of interferon-beta production | 1 |
| positive regulation of cytokine production | 1 |
| interleukin-6 production | 1 |
| regulation of interleukin-6 production | 1 |
| tumor necrosis factor production | 1 |
| regulation of tumor necrosis factor production | 1 |
| positive regulation of tumor necrosis factor superfamily cytokine production | 1 |
| glycolytic process | 1 |
| regulation of glycolytic process | 1 |
| positive regulation of purine nucleotide catabolic process | 1 |
| positive regulation of carbohydrate metabolic process | 1 |
| positive regulation of ATP metabolic process | 1 |
| lipid biosynthetic process | 1 |
| positive regulation of biosynthetic process | 1 |
| positive regulation of lipid metabolic process | 1 |
| regulation of lipid biosynthetic process | 1 |
| chemical homeostasis | 1 |
| intracellular glucose homeostasis | 1 |
| response to glucose | 1 |
| cellular response to hexose stimulus | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| transcription regulatory region nucleic acid binding | 1 |
| sequence-specific double-stranded DNA binding | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
Protein interactions and networks
STRING
1608 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZBTB20 | ZHX2 | Q9Y6X8 | 847 |
| ZBTB20 | AFP | P02771 | 774 |
| ZBTB20 | GGT1 | P19440 | 666 |
| ZBTB20 | AFM | P43652 | 566 |
| ZBTB20 | SOX5 | P35711 | 524 |
| ZBTB20 | SATB2 | Q9UPW6 | 497 |
| ZBTB20 | IGFALS | P35858 | 490 |
| ZBTB20 | IGFBP2 | P18065 | 464 |
| ZBTB20 | CPT1A | P50416 | 444 |
| ZBTB20 | ALB | P02768 | 443 |
| ZBTB20 | FASN | P49327 | 443 |
| ZBTB20 | UNC5CL | Q8IV45 | 436 |
| ZBTB20 | LHX5 | Q9H2C1 | 427 |
| ZBTB20 | IGF1 | P01343 | 426 |
| ZBTB20 | CALB1 | P05937 | 416 |
| ZBTB20 | POGZ | Q7Z3K3 | 416 |
IntAct
27 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HSPB8 | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| MBD3L1 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.530 |
| DNAJB8 | DNAJB6 | psi-mi:“MI:0914”(association) | 0.530 |
| TEAD2 | TEAD1 | psi-mi:“MI:0914”(association) | 0.530 |
| HSP90AB1 | ZBTB20 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZBTB20 | CDC37 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NR3C1 | ZBTB20 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PPARG | ZBTB20 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TNFRSF10A | psi-mi:“MI:0914”(association) | 0.350 | |
| BORCS8 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.350 |
| FOXF2 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| CLASRP | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| SENP3 | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
| INKA1 | SDCBP | psi-mi:“MI:0914”(association) | 0.350 |
| SYT11 | TNFRSF10B | psi-mi:“MI:0914”(association) | 0.350 |
| CST11 | PLXNB2 | psi-mi:“MI:0914”(association) | 0.350 |
| TFPT | CCP110 | psi-mi:“MI:0914”(association) | 0.350 |
| MECOM | MTA2 | psi-mi:“MI:0914”(association) | 0.350 |
| TRNAU1AP | SLC25A4 | psi-mi:“MI:0914”(association) | 0.350 |
| TWIST2 | TCF3 | psi-mi:“MI:0914”(association) | 0.350 |
| DACT2 | MLYCD | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2B | MMP24OS | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJB9 | PC | psi-mi:“MI:0914”(association) | 0.350 |
| RBM11 | KLK10 | psi-mi:“MI:0914”(association) | 0.350 |
| SYT11 | PJA2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (43): ZBTB20 (Affinity Capture-MS), ZBTB20 (Affinity Capture-MS), ZBTB20 (Affinity Capture-MS), ZBTB20 (Affinity Capture-MS), ZBTB20 (Affinity Capture-MS), ZBTB20 (Affinity Capture-MS), ZBTB20 (Affinity Capture-MS), ZBTB20 (Affinity Capture-MS), ZBTB20 (Affinity Capture-MS), ZBTB20 (Affinity Capture-MS), ZBTB20 (Affinity Capture-RNA), ZBTB20 (PCA), ZBTB20 (Affinity Capture-RNA), ZBTB20 (Affinity Capture-MS), ZBTB20 (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: A0A0A6YY25, B2RXH4, E0CZ16, E1B932, E7F6F9, F1LZ52, F1LZF0, F1MBP6, O88282, O93567, O95198, P10074, P17789, P42282, P42283, P42284, Q01295, Q1H9T6, Q24174, Q24206, Q3B7M1, Q52KG4, Q53G59, Q53HC5, Q5R633, Q5REP9, Q5U374, Q66HD2, Q6NRH0, Q7KQZ4, Q7KRI2, Q867Z4, Q86B87, Q8BGY4, Q8BZM0, Q8CA72, Q8IN81, Q8JZP3, Q8K0L9, Q8N143
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ZBTB20 | “down-regulates quantity by repression” | AFP | “transcriptional regulation” |
| ZBTB20 | “down-regulates quantity by repression” | NFKBIA | “transcriptional regulation” |
| ZBTB20 | up-regulates | Neurogenesis |
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 1 cancer types — LGGNOS.
Clinical variants and AI predictions
ClinVar
466 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 45 |
| Likely pathogenic | 41 |
| Uncertain significance | 171 |
| Likely benign | 140 |
| Benign | 23 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1339418 | NM_001348800.3(ZBTB20):c.1727dup (p.Pro577fs) | Pathogenic |
| 139436 | NM_001348800.3(ZBTB20):c.1768A>C (p.Lys590Gln) | Pathogenic |
| 139437 | NM_001348800.3(ZBTB20):c.1771C>G (p.Gln591Glu) | Pathogenic |
| 139438 | NM_001348800.3(ZBTB20):c.1787A>G (p.His596Arg) | Pathogenic |
| 139446 | NM_001348800.3(ZBTB20):c.1802C>T (p.Thr601Ile) | Pathogenic |
| 139447 | NM_001348800.3(ZBTB20):c.1805G>C (p.Gly602Ala) | Pathogenic |
| 139449 | NM_001348800.3(ZBTB20):c.1861C>T (p.Leu621Phe) | Pathogenic |
| 139450 | NM_001348800.3(ZBTB20):c.1876G>A (p.Val626Met) | Pathogenic |
| 1686308 | NM_001348800.3(ZBTB20):c.1817A>G (p.His606Arg) | Pathogenic |
| 1691860 | NM_001348800.3(ZBTB20):c.1916G>T (p.Cys639Phe) | Pathogenic |
| 1712590 | NM_001348800.3(ZBTB20):c.1739G>A (p.Cys580Tyr) | Pathogenic |
| 1712633 | NM_001348800.3(ZBTB20):c.1871A>C (p.His624Pro) | Pathogenic |
| 1804424 | NM_001348800.3(ZBTB20):c.1795G>T (p.Val599Leu) | Pathogenic |
| 2010903 | NM_001348800.3(ZBTB20):c.1635dup (p.Gly546fs) | Pathogenic |
| 2023798 | NM_001348800.3(ZBTB20):c.1852A>G (p.Lys618Glu) | Pathogenic |
| 2024704 | NM_001348800.3(ZBTB20):c.1860C>G (p.Tyr620Ter) | Pathogenic |
| 2229580 | NM_001348800.3(ZBTB20):c.1412dup (p.Ser472fs) | Pathogenic |
| 2442541 | NM_001348800.3(ZBTB20):c.1906T>C (p.Cys636Arg) | Pathogenic |
| 2443883 | NM_001348800.3(ZBTB20):c.1024del (p.Gln342fs) | Pathogenic |
| 2578946 | NM_001348800.3(ZBTB20):c.1832G>A (p.Cys611Tyr) | Pathogenic |
| 2766516 | NM_001348800.3(ZBTB20):c.621_622insCCGCGGGGCACTGGGG (p.Gly208fs) | Pathogenic |
| 2883999 | NM_001348800.3(ZBTB20):c.1879A>G (p.Thr627Ala) | Pathogenic |
| 2921295 | NM_001348800.3(ZBTB20):c.1967A>G (p.His656Arg) | Pathogenic |
| 3246964 | NC_000003.11:g.(?114057852)(114070745_?)del | Pathogenic |
| 3342469 | NM_001348800.3(ZBTB20):c.721G>T (p.Asp241Tyr) | Pathogenic |
| 3361980 | NM_001348800.3(ZBTB20):c.1915T>G (p.Cys639Gly) | Pathogenic |
| 3372559 | NM_001348800.3(ZBTB20):c.1177C>T (p.Gln393Ter) | Pathogenic |
| 3377070 | NM_001348800.3(ZBTB20):c.388C>T (p.Gln130Ter) | Pathogenic |
| 3633366 | NM_001348800.3(ZBTB20):c.1787A>C (p.His596Pro) | Pathogenic |
| 3660416 | NM_001348800.3(ZBTB20):c.691dup (p.Tyr231fs) | Pathogenic |
SpliceAI
5787 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:114339435:G:GC | acceptor_gain | 1.0000 |
| 3:114380216:CAAT:C | donor_gain | 1.0000 |
| 3:114389003:A:AC | donor_gain | 1.0000 |
| 3:114389004:C:CC | donor_gain | 1.0000 |
| 3:114500346:ACTT:A | donor_loss | 1.0000 |
| 3:114500348:TTAC:T | donor_loss | 1.0000 |
| 3:114500349:TA:T | donor_loss | 1.0000 |
| 3:114500350:A:AC | donor_gain | 1.0000 |
| 3:114500350:A:AT | donor_loss | 1.0000 |
| 3:114500351:C:CA | donor_gain | 1.0000 |
| 3:114500351:C:T | donor_loss | 1.0000 |
| 3:114339422:CTCAC:C | acceptor_gain | 0.9900 |
| 3:114339423:TCAC:T | acceptor_gain | 0.9900 |
| 3:114339424:CAC:C | acceptor_gain | 0.9900 |
| 3:114339424:CACC:C | acceptor_gain | 0.9900 |
| 3:114339425:AC:A | acceptor_gain | 0.9900 |
| 3:114339426:CCTGT:C | acceptor_gain | 0.9900 |
| 3:114339427:C:A | acceptor_loss | 0.9900 |
| 3:114339430:T:TC | acceptor_gain | 0.9900 |
| 3:114339433:A:AC | acceptor_gain | 0.9900 |
| 3:114339435:G:C | acceptor_gain | 0.9900 |
| 3:114339447:A:T | acceptor_gain | 0.9900 |
| 3:114339469:A:C | acceptor_gain | 0.9900 |
| 3:114350269:CTCA:C | donor_loss | 0.9900 |
| 3:114350270:TCACC:T | donor_loss | 0.9900 |
| 3:114350271:CA:C | donor_loss | 0.9900 |
| 3:114350272:A:C | donor_loss | 0.9900 |
| 3:114351882:CAGCA:C | acceptor_gain | 0.9900 |
| 3:114351885:CA:C | acceptor_gain | 0.9900 |
| 3:114351886:A:C | acceptor_gain | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000002469 (3:114953102 T>C), RS1000003997 (3:114744817 C>T), RS1000004596 (3:114616706 C>T), RS1000006675 (3:114789848 T>C), RS1000013401 (3:114664398 A>G), RS1000018722 (3:115060390 T>C,G), RS1000021704 (3:114566474 T>C,G), RS1000024742 (3:114522614 G>A), RS1000028852 (3:114477669 A>C,T), RS1000031727 (3:114927908 C>G), RS1000034072 (3:114854942 C>T), RS1000037674 (3:115106311 G>A), RS1000039838 (3:114802189 G>C), RS1000048324 (3:114836958 T>C), RS1000048817 (3:114546527 T>G)
Disease associations
OMIM: gene MIM:606025 | disease phenotypes: MIM:259050, MIM:269880
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Primrose syndrome | Definitive | Autosomal dominant |
| diabetes mellitus | Strong | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| Primrose syndrome | Definitive | AD |
Mondo (6): Primrose syndrome (MONDO:0009798), intellectual disability (MONDO:0001071), neurodevelopmental disorder (MONDO:0700092), autism spectrum disorder (MONDO:0005258), SHORT syndrome (MONDO:0010026), diabetes mellitus (MONDO:0005015)
Orphanet (4): Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (Orphanet:3042), SHORT syndrome (Orphanet:3163), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658), NON RARE IN EUROPE: Autism (Orphanet:106)
HPO phenotypes
105 total (30 of 105 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000135 | Hypogonadism |
| HP:0000160 | Narrow mouth |
| HP:0000174 | Abnormal palate morphology |
| HP:0000179 | Thick lower lip vermilion |
| HP:0000218 | High palate |
| HP:0000238 | Hydrocephalus |
| HP:0000248 | Brachycephaly |
| HP:0000256 | Macrocephaly |
| HP:0000272 | Malar flattening |
| HP:0000286 | Epicanthus |
| HP:0000316 | Hypertelorism |
| HP:0000327 | Hypoplasia of the maxilla |
| HP:0000337 | Broad forehead |
| HP:0000365 | Hearing impairment |
| HP:0000400 | Macrotia |
| HP:0000405 | Conductive hearing impairment |
| HP:0000431 | Wide nasal bridge |
| HP:0000455 | Broad nasal tip |
| HP:0000463 | Anteverted nares |
| HP:0000486 | Strabismus |
| HP:0000490 | Deeply set eye |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000508 | Ptosis |
| HP:0000518 | Cataract |
| HP:0000664 | Synophrys |
| HP:0000711 | Restlessness |
| HP:0000717 | Autism |
| HP:0000718 | Aggressive behavior |
GWAS associations
30 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001300_1 | Gastric cancer | 2.000000e-09 |
| GCST002616_4 | Mitochondrial DNA levels | 3.000000e-06 |
| GCST002828_21 | Urate levels in obese individuals | 5.000000e-06 |
| GCST002976_8 | HIV-1 viral setpoint | 8.000000e-07 |
| GCST003400_23 | Type 2 diabetes | 3.000000e-06 |
| GCST006411_2 | Mucinous adenocarcinoma in colorectal cancer | 1.000000e-06 |
| GCST006411_3 | Mucinous adenocarcinoma in colorectal cancer | 2.000000e-06 |
| GCST006624_95 | Systolic blood pressure | 1.000000e-08 |
| GCST007102_10 | Seasonality and depression | 2.000000e-06 |
| GCST007102_8 | Seasonality and depression | 4.000000e-06 |
| GCST007102_9 | Seasonality and depression | 8.000000e-07 |
| GCST007324_116 | Adventurousness | 1.000000e-08 |
| GCST007324_137 | Adventurousness | 2.000000e-09 |
| GCST007325_160 | General risk tolerance (MTAG) | 1.000000e-11 |
| GCST007325_202 | General risk tolerance (MTAG) | 2.000000e-08 |
| GCST007327_76 | Smoking status (ever vs never smokers) | 4.000000e-08 |
| GCST007978_2 | Postoperative atrial fibrillation after cardiac surgery | 8.000000e-07 |
| GCST008646_6 | Gastric cancer | 4.000000e-06 |
| GCST010118_23 | Type 2 diabetes | 2.000000e-11 |
| GCST010135_51 | Oily fish consumption | 5.000000e-08 |
| GCST010140_41 | Pork consumption | 5.000000e-08 |
| GCST010142_37 | Fish- and plant-related diet | 9.000000e-09 |
| GCST010242_229 | HDL cholesterol levels | 1.000000e-08 |
| GCST010988_110 | Adult body size | 8.000000e-11 |
| GCST011011_22 | Youthful appearance (self-reported) | 5.000000e-17 |
| GCST011703_62 | Smoking initiation | 3.000000e-10 |
| GCST90002400_367 | Plateletcrit | 1.000000e-12 |
| GCST90002402_317 | Platelet count | 3.000000e-10 |
| GCST90011900_22 | Serum alkaline phosphatase levels | 3.000000e-14 |
| GCST90014033_25 | Haemorrhoidal disease | 2.000000e-09 |
EFO canonical traits (16, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006312 | mitochondrial DNA measurement |
| EFO:0004531 | urate measurement |
| EFO:0006319 | HIV viral set point measurement |
| EFO:0009361 | colorectal mucinous adenocarcinoma |
| EFO:0006335 | systolic blood pressure |
| EFO:0006876 | seasonality measurement |
| EFO:0008579 | risk-taking behaviour |
| EFO:0004318 | smoking behavior |
| EFO:0009951 | response to surgery |
| EFO:0009952 | post-operative atrial fibrillation |
| EFO:0008111 | diet measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0005670 | smoking initiation |
| EFO:0007985 | platelet crit |
| EFO:0004309 | platelet count |
| EFO:0004533 | alkaline phosphatase measurement |
MeSH disease descriptors (5)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D003920 | Diabetes Mellitus | C18.452.394.750; C19.246 |
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| D065886 | Neurodevelopmental Disorders | F03.625 |
| C536420 | Primrose syndrome (supp.) | |
| C537327 | SHORT syndrome (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
66 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, affects expression, affects cotreatment | 6 |
| methylmercuric chloride | decreases expression, increases expression, affects cotreatment | 4 |
| Aflatoxin B1 | increases expression, increases methylation, decreases expression, decreases methylation | 4 |
| bisphenol A | increases methylation, affects cotreatment, decreases expression, decreases methylation | 3 |
| sodium arsenite | increases expression, affects methylation | 3 |
| bisphenol F | affects cotreatment, decreases methylation, decreases expression | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| bisphenol S | increases methylation, affects cotreatment, decreases expression | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Air Pollutants | decreases expression, affects expression, increases abundance | 2 |
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| Cisplatin | affects cotreatment, decreases expression | 2 |
| Folic Acid | affects cotreatment, increases expression, decreases expression | 2 |
| Nickel | decreases expression | 2 |
| Cyclosporine | decreases expression, increases expression, increases methylation | 2 |
| GSK-J4 | increases expression | 1 |
| TAK-243 | decreases sumoylation | 1 |
| bufotalin | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| geraniol | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| resorcinol | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | 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_XV88 | HEK293 eGFP-ZBTB20 | Transformed cell line | Female |
Clinical trials (associated diseases)
598 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00044746 | PHASE4 | COMPLETED | Study Evaluating the Safety and Efficacy of Piperacillin/Tazobactam and Ampicillin/Sulbactam in Patients With Diabetic Foot Infections |
| NCT00069602 | PHASE4 | COMPLETED | Assessing Continuous Glucose Monitors in Healthy Children |
| NCT00079638 | PHASE4 | COMPLETED | Comparative Efficacy Evaluation of Lipids When Treated With Niaspan & Statin or Other Lipid-Modifying Therapies-COMPELL |
| NCT00095446 | PHASE4 | COMPLETED | NovoLog Observation Trial in Subjects With Type 1 and Type 2 Diabetes |
| NCT00101751 | PHASE4 | COMPLETED | INITIATE Plus (INITiation of Insulin to Reach A1c TargEt) Study |
| NCT00108615 | PHASE4 | COMPLETED | Effects of Insulin Sensitizers in Subjects With Impaired Glucose Tolerance |
| NCT00117780 | PHASE4 | COMPLETED | Comparison of Insulin Detemir Given Once or Twice Daily in Type 1 Diabetes |
| NCT00120341 | PHASE4 | COMPLETED | Anodyne Therapy in Diabetic Sensory Neuropathy |
| NCT00121355 | PHASE4 | COMPLETED | Novofine Autocover Safety Needle Versus BD Safety Glide |
| NCT00135226 | PHASE4 | ACTIVE_NOT_RECRUITING | ASCEND: A Study of Cardiovascular Events iN Diabetes |
| NCT00144937 | PHASE4 | UNKNOWN | Multifactorial Intervention on Cardiovascular Risk Factors in Subjects With Peripheral Arterial Disease |
| NCT00147251 | PHASE4 | COMPLETED | Stop Atherosclerosis in Native Diabetics Study |
| NCT00157638 | PHASE4 | COMPLETED | Integrating Family Medicine and Pharmacy to Advance Primary Care Therapeutics |
| NCT00162344 | PHASE4 | COMPLETED | A Study of Stress Heart Imaging in Patients With Diabetes at Risk for Coronary Disease. |
| NCT00177138 | PHASE4 | TERMINATED | Use of Campath for Induction and Maintenance Therapy in Pancreas After Kidney Transplantation |
| NCT00182494 | PHASE4 | UNKNOWN | Diabetes Prevention Program in Schizophrenia [DPPS] |
| NCT00184561 | PHASE4 | COMPLETED | Effectiveness and Safety of Biphasic Insulin Aspart 70/30 in Subjects With Type 2 Diabetes |
| NCT00184626 | PHASE4 | COMPLETED | Comparison of Insulin Glargine Versus Biphasic Insulin Aspart 30/70 or Biphasic Insulin Aspart 30/70 in Combination With Metformin in Subjects With Type 2 Diabetes. |
| NCT00202618 | PHASE4 | UNKNOWN | Rationale and Design for Shiga Microalbuminuria Reduction Trial |
| NCT00209170 | PHASE4 | COMPLETED | Depression-Diabetes Mechanisms: Urban African Americans |
| NCT00209417 | PHASE4 | TERMINATED | Renal Effects of Two Iodinated Contrast Media in Patients at Risk Undergoing Computed Tomography |
| NCT00212004 | PHASE4 | TERMINATED | Pioglitazone Protects Diabetes Mellitus (DM) Patients Against Re-Infarction (PPAR Study) |
| NCT00219440 | PHASE4 | COMPLETED | A Portion-controlled Diet Will Prevent Weight Gain in Diabetics Treated With ACTOS |
| NCT00225849 | PHASE4 | UNKNOWN | Japanese Primary Prevention Project With Aspirin |
| NCT00231894 | PHASE4 | COMPLETED | Pioglitazone as a Treatment for Lipid and Glucose Abnormalities In Patients With Schizophrenia |
| NCT00234871 | PHASE4 | COMPLETED | Tarka® vs. Lotrel® in Hypertensive, Diabetic Subjects With Renal Disease (TANDEM) |
| NCT00235014 | PHASE4 | COMPLETED | A Study for Prevention of Kidney Disease in Diabetic Patients (BENEDICT) |
| NCT00236379 | PHASE4 | COMPLETED | A Study of the Effects of Risperidone and Olanzapine on Blood Glucose (Sugar) in Patients With Schizophrenia or Schizoaffective Disorder |
| NCT00241904 | PHASE4 | COMPLETED | Reducing Total Cardiovascular Risk in an Urban Community |
| NCT00263393 | PHASE4 | COMPLETED | Rural Andhra Pradesh Cardiovascular Prevention Study (RAPCAPS) |
| NCT00264901 | PHASE4 | COMPLETED | Comparison of Self Adjustment Versus Standard of Care Treatment in Subjects With Type 2 Diabetes |
| NCT00274274 | PHASE4 | COMPLETED | Efficacy and Safety of a Fixed or a Flexible Supplementary Insulin Therapy in Type 2 Diabetes |
| NCT00282451 | PHASE4 | COMPLETED | Effect of Biphasic Insulin Compared to Biphasic Insulin Combined With Insulin Aspart, With or Without Metformin in Type 2 Diabetes |
| NCT00282659 | PHASE4 | COMPLETED | The Use of Magnesium to Improve Blood Pressure, Cholesterol, and Glucose Control |
| NCT00287820 | PHASE4 | COMPLETED | Comparative Effects of Chronic Treatment With Olanzapine and Risperidone on Glucose and Lipid Metabolism |
| NCT00295555 | PHASE4 | COMPLETED | Doxazosin Effects on ABPM in Hypertensive Patients With Diabetic Nephropathy |
| NCT00299169 | PHASE4 | TERMINATED | Randomized Trial Comparing N of 1 Trials to Standard Practice to Improve Adherence to Statins in Patients With Diabetes |
| NCT00301392 | PHASE4 | COMPLETED | Japan Prevention Trial of Diabetes by Pitavastatin in Patients With Impaired Glucose Tolerance (J-PREDICT) |
| NCT00306696 | PHASE4 | COMPLETED | Examining the Effect of Different Diuretics on Fluid Retention in Diabetics Treated With Rosiglitazone. |
| NCT00309465 | PHASE4 | COMPLETED | Perioperative Insulin Glargine Dosing Study |
Related Atlas pages
- Associated diseases: Primrose syndrome, diabetes mellitus
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): diabetes mellitus, gastric carcinoma, hemorrhoid, Primrose syndrome, SHORT syndrome