ZBTB10
geneOn this page
Also known as RINZFFLJ12752
Summary
ZBTB10 (zinc finger and BTB domain containing 10, HGNC:30953) is a protein-coding gene on chromosome 8q21.13, encoding Zinc finger and BTB domain-containing protein 10 (Q96DT7). May be involved in transcriptional regulation.
Enables telomeric DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Located in chromosome, telomeric region and nucleoplasm.
Source: NCBI Gene 65986 — RefSeq curated summary.
At a glance
- GWAS associations: 42
- Clinical variants (ClinVar): 127 total
- Druggable target: yes
- MANE Select transcript:
NM_001105539
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30953 |
| Approved symbol | ZBTB10 |
| Name | zinc finger and BTB domain containing 10 |
| Location | 8q21.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RINZF, FLJ12752 |
| Ensembl gene | ENSG00000205189 |
| Ensembl biotype | protein_coding |
| OMIM | 618576 |
| Entrez | 65986 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 8 protein_coding
ENST00000379091, ENST00000426744, ENST00000430430, ENST00000455036, ENST00000961791, ENST00000961792, ENST00000961793, ENST00000961794
RefSeq mRNA: 3 — MANE Select: NM_001105539
NM_001105539, NM_001277145, NM_023929
CCDS: CCDS47880, CCDS64920
Canonical transcript exons
ENST00000455036 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001479728 | 80518782 | 80518954 |
| ENSE00001479730 | 80518403 | 80518579 |
| ENSE00001479731 | 80513910 | 80514008 |
| ENSE00001479734 | 80499494 | 80500382 |
| ENSE00001523703 | 80519223 | 80526265 |
| ENSE00003843299 | 80486226 | 80487782 |
Expression profiles
Bgee: expression breadth ubiquitous, 264 present calls, max score 94.56.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.9755 / max 845.1048, expressed in 1670 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 89523 | 6.0066 | 1501 |
| 89519 | 3.0651 | 496 |
| 89520 | 1.9566 | 447 |
| 89521 | 1.5659 | 425 |
| 89528 | 1.3585 | 466 |
| 89524 | 0.6827 | 400 |
| 89525 | 0.6009 | 303 |
| 89529 | 0.3428 | 138 |
| 89527 | 0.1631 | 69 |
| 89526 | 0.1324 | 61 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 94.56 | gold quality |
| cauda epididymis | UBERON:0004360 | 93.53 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 93.26 | gold quality |
| corpus epididymis | UBERON:0004359 | 92.79 | gold quality |
| cartilage tissue | UBERON:0002418 | 92.42 | gold quality |
| calcaneal tendon | UBERON:0003701 | 92.30 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 92.20 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 92.09 | gold quality |
| caput epididymis | UBERON:0004358 | 91.55 | gold quality |
| oocyte | CL:0000023 | 90.82 | gold quality |
| adrenal tissue | UBERON:0018303 | 90.80 | gold quality |
| saphenous vein | UBERON:0007318 | 90.62 | gold quality |
| placenta | UBERON:0001987 | 90.52 | gold quality |
| endometrium | UBERON:0001295 | 90.25 | gold quality |
| heart right ventricle | UBERON:0002080 | 90.04 | gold quality |
| parietal pleura | UBERON:0002400 | 89.94 | gold quality |
| ventricular zone | UBERON:0003053 | 89.70 | gold quality |
| bronchial epithelial cell | CL:0002328 | 89.38 | gold quality |
| mammary duct | UBERON:0001765 | 89.04 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 88.94 | gold quality |
| urethra | UBERON:0000057 | 88.74 | gold quality |
| superficial temporal artery | UBERON:0001614 | 88.72 | gold quality |
| vena cava | UBERON:0004087 | 88.68 | gold quality |
| ganglionic eminence | UBERON:0004023 | 88.67 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 88.63 | gold quality |
| tibia | UBERON:0000979 | 88.47 | gold quality |
| synovial joint | UBERON:0002217 | 88.25 | gold quality |
| colonic mucosa | UBERON:0000317 | 87.94 | gold quality |
| pleura | UBERON:0000977 | 87.69 | gold quality |
| visceral pleura | UBERON:0002401 | 87.27 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.55 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| ESR1 | |
| SP3 |
Upstream regulators (CollecTRI, top): SP1, SP3, SP4
miRNA regulators (miRDB)
346 targeting ZBTB10, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| 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-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
Literature-anchored findings (GeneRIF, showing 8)
- Study show that miR-27a indirectly regulates E2-responsiveness in MCF-7 cells through suppression of ZBTB10, thereby enhancing expression of ERalpha. (PMID:20382698)
- Collectively, these results indicated that stimulation of ovarian cancer cell VEGF, Cox2 and survivin expression by FSH involves the microRNA27a: ZBTB10-specificity protein pathway. (PMID:23254909)
- Sp1, Sp3, and Sp4 and Sp-regulated genes were downregulated by curcuminoids in SW-480 and this was accompanied by suppression of microRNA-27a (miR-27a) and induction of ZBTB10, an mRNA target of miR-27a and a transcriptional repressor of Sp expression. (PMID:23471840)
- ZBTB10 co-localizes with a subset of telomeres in ALT-positive U2OS cells and interacts with TRF2/RAP1 via the N-terminal region of TRF2. Our data establishes ZBTB10 as a novel variant repeat binding protein at ALT telomeres. (PMID:30629181)
- Pyruvate kinase L/R links metabolism dysfunction to neuroendocrine differentiation of prostate cancer by ZBTB10 deficiency. (PMID:35306527)
- MiR-361-5p promotes proliferation and inhibits apoptosis of fibroblast-like synoviocytes via targeting ZBTB10 in rheumatoid arthritis. (PMID:35608340)
- Structural insights into the recognition of telomeric variant repeat TTGGGG by broad-complex, tramtrack and bric-a-brac - zinc finger protein ZBTB10. (PMID:36657642)
- Intermittent Hypoxia Promotes TAM-Induced Glycolysis in Laryngeal Cancer Cells via Regulation of HK1 Expression through Activation of ZBTB10. (PMID:37834257)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zbtb10 | ENSDARG00000077101 |
| mus_musculus | Zbtb10 | ENSMUSG00000069114 |
| rattus_norvegicus | Zbtb10 | ENSRNOG00000061862 |
Paralogs (5): ZBTB8A (ENSG00000160062), ZBTB9 (ENSG00000213588), ZBTB22 (ENSG00000236104), C17orf113 (ENSG00000267221), ZBTB8B (ENSG00000273274)
Protein
Protein identifiers
Zinc finger and BTB domain-containing protein 10 — Q96DT7 (reviewed: Q96DT7)
Alternative names: Zinc finger protein RIN ZF
All UniProt accessions (1): Q96DT7
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in transcriptional regulation.
Subcellular location. Nucleus.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96DT7-1 | 1 | yes |
| Q96DT7-2 | 2 | |
| Q96DT7-3 | 3 | |
| Q96DT7-4 | 4 |
RefSeq proteins (3): NP_001099009, NP_001264074, NP_076418 (=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
UniProt features (43 total): cross-link 9, compositionally biased region 7, splice variant 4, strand 4, modified residue 3, sequence conflict 3, helix 3, region of interest 3, zinc finger region 2, sequence variant 2, chain 1, domain 1, turn 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8GN3 | X-RAY DIFFRACTION | 1.8 |
| 8GN4 | X-RAY DIFFRACTION | 1.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96DT7-F1 | 49.46 | 0.03 |
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 (12): 126, 210, 565, 245, 468, 483, 497, 573, 672, 684, 696, 706
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 296 (showing top):
TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, ATACCTC_MIR202, MODULE_453, AGTCTTA_MIR499, IRF7_01, ONKEN_UVEAL_MELANOMA_UP, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, AAACCAC_MIR140, MYCMAX_01, BLALOCK_ALZHEIMERS_DISEASE_UP, WTGAAAT_UNKNOWN, HP1SITEFACTOR_Q6, OCT1_06, OCT1_07, NELSON_RESPONSE_TO_ANDROGEN_UP
GO Biological Process (2): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357)
GO Molecular Function (7): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), zinc ion binding (GO:0008270), telomeric repeat DNA binding (GO:0042162), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (3): chromosome, telomeric region (GO:0000781), nucleus (GO:0005634), nucleoplasm (GO:0005654)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transcription by RNA polymerase II | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| transcription cis-regulatory region binding | 1 |
| negative regulation of transcription by RNA polymerase II | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription repressor activity | 1 |
| transition metal ion binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| chromosomal region | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
948 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZBTB10 | BRCA1 | P38398 | 434 |
| ZBTB10 | CCL27 | Q9Y4X3 | 423 |
| ZBTB10 | BEND3 | Q5T5X7 | 423 |
| ZBTB10 | DEXI | O95424 | 408 |
| ZBTB10 | MORC3 | Q14149 | 391 |
| ZBTB10 | MDC1 | Q14676 | 387 |
| ZBTB10 | BTBD10 | Q9BSF8 | 380 |
| ZBTB10 | TPD52 | P55327 | 373 |
| ZBTB10 | ETV6 | P41212 | 343 |
| ZBTB10 | ZBTB4 | Q9P1Z0 | 316 |
| ZBTB10 | CDHR3 | Q6ZTQ4 | 314 |
| ZBTB10 | PHB1 | P35232 | 314 |
| ZBTB10 | CLEC16A | Q2KHT3 | 308 |
| ZBTB10 | ZNF18 | P17022 | 284 |
| ZBTB10 | NAIF1 | Q69YI7 | 284 |
IntAct
119 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PDLIM7 | BAG3 | psi-mi:“MI:0914”(association) | 0.800 |
| FBXL17 | SKP1 | psi-mi:“MI:0914”(association) | 0.790 |
| FBXL17 | BACH1 | psi-mi:“MI:0914”(association) | 0.730 |
| RHPN1 | PODXL | psi-mi:“MI:0914”(association) | 0.690 |
| ZBTB10 | MOB3C | psi-mi:“MI:0915”(physical association) | 0.670 |
| MOB3C | ZBTB10 | psi-mi:“MI:0915”(physical association) | 0.670 |
| FOXK2 | DVL2 | psi-mi:“MI:0914”(association) | 0.640 |
| ZNF576 | ZBED1 | psi-mi:“MI:0914”(association) | 0.640 |
| IPO8 | TRIM28 | psi-mi:“MI:0914”(association) | 0.640 |
| CHCHD4 | SSNA1 | psi-mi:“MI:0914”(association) | 0.640 |
| MORF4L2 | ZBTB10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF417 | ZBTB10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MORF4L1 | ZBTB10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZBTB10 | LSM4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZBTB10 | MORF4L2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZBTB10 | ZNF417 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LSM4 | ZBTB10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZBTB10 | MORF4L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF169 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| XAGE1A | THAP12 | psi-mi:“MI:0914”(association) | 0.530 |
| PRICKLE3 | SIAH2 | psi-mi:“MI:0914”(association) | 0.530 |
| LACC1 | DUSP14 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (188): ZBTB10 (Two-hybrid), ZBTB10 (Two-hybrid), ZBTB10 (Two-hybrid), ZNF417 (Two-hybrid), MOB3C (Two-hybrid), ZBTB10 (Affinity Capture-MS), ZBTB10 (Affinity Capture-MS), ZBTB10 (Affinity Capture-MS), ZBTB10 (Affinity Capture-MS), ZBTB10 (Affinity Capture-MS), ZBTB10 (Affinity Capture-MS), ZBTB10 (Affinity Capture-MS), ZBTB10 (Affinity Capture-MS), ZBTB10 (Affinity Capture-MS), ZBTB10 (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
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 142 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 7 | 21.3× | 2e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
127 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 112 |
| Likely benign | 4 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
794 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:80499489:TACA:T | acceptor_loss | 1.0000 |
| 8:80499493:G:A | acceptor_loss | 1.0000 |
| 8:80499493:GGA:G | acceptor_gain | 1.0000 |
| 8:80513906:TCAG:T | acceptor_loss | 1.0000 |
| 8:80513907:CA:C | acceptor_loss | 1.0000 |
| 8:80513908:A:AG | acceptor_gain | 1.0000 |
| 8:80513908:AG:A | acceptor_loss | 1.0000 |
| 8:80513909:G:GG | acceptor_gain | 1.0000 |
| 8:80518397:TACTA:T | acceptor_loss | 1.0000 |
| 8:80518399:CTAGG:C | acceptor_loss | 1.0000 |
| 8:80518400:TAGG:T | acceptor_loss | 1.0000 |
| 8:80518401:A:AT | acceptor_loss | 1.0000 |
| 8:80518402:G:GT | acceptor_loss | 1.0000 |
| 8:80499486:A:AG | acceptor_gain | 0.9900 |
| 8:80499487:A:G | acceptor_gain | 0.9900 |
| 8:80499488:TTACA:T | acceptor_loss | 0.9900 |
| 8:80499492:A:AG | acceptor_gain | 0.9900 |
| 8:80499492:AG:A | acceptor_gain | 0.9900 |
| 8:80499493:G:GG | acceptor_gain | 0.9900 |
| 8:80499493:GG:G | acceptor_gain | 0.9900 |
| 8:80499493:GGAGT:G | acceptor_gain | 0.9900 |
| 8:80500373:G:GT | donor_gain | 0.9900 |
| 8:80500379:CCAGG:C | donor_loss | 0.9900 |
| 8:80500380:CAGGT:C | donor_loss | 0.9900 |
| 8:80500381:AGGTA:A | donor_loss | 0.9900 |
| 8:80500382:GGT:G | donor_loss | 0.9900 |
| 8:80500383:G:C | donor_loss | 0.9900 |
| 8:80500384:T:A | donor_loss | 0.9900 |
| 8:80513909:GATTT:G | acceptor_gain | 0.9900 |
| 8:80514006:CTG:C | donor_loss | 0.9900 |
AlphaMissense
5725 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:80518814:T:C | C724R | 1.000 |
| 8:80518816:C:G | C724W | 1.000 |
| 8:80518824:G:A | C727Y | 1.000 |
| 8:80518825:T:G | C727W | 1.000 |
| 8:80518836:C:A | A731D | 1.000 |
| 8:80518854:T:C | L737P | 1.000 |
| 8:80518860:G:T | R739M | 1.000 |
| 8:80518861:G:C | R739S | 1.000 |
| 8:80518861:G:T | R739S | 1.000 |
| 8:80518862:C:A | H740N | 1.000 |
| 8:80518862:C:G | H740D | 1.000 |
| 8:80518864:C:A | H740Q | 1.000 |
| 8:80518864:C:G | H740Q | 1.000 |
| 8:80518892:T:C | F750L | 1.000 |
| 8:80518894:T:A | F750L | 1.000 |
| 8:80518894:T:G | F750L | 1.000 |
| 8:80518898:T:C | C752R | 1.000 |
| 8:80518899:G:A | C752Y | 1.000 |
| 8:80518900:T:G | C752W | 1.000 |
| 8:80518907:T:C | C755R | 1.000 |
| 8:80518908:G:A | C755Y | 1.000 |
| 8:80518909:T:G | C755W | 1.000 |
| 8:80518919:T:A | F759I | 1.000 |
| 8:80518919:T:C | F759L | 1.000 |
| 8:80518920:T:C | F759S | 1.000 |
| 8:80518920:T:G | F759C | 1.000 |
| 8:80518921:T:A | F759L | 1.000 |
| 8:80518921:T:G | F759L | 1.000 |
| 8:80518931:G:A | E763K | 1.000 |
| 8:80518932:A:T | E763V | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000001226 (8:80486517 GC>G), RS1000049988 (8:80510840 C>A), RS1000062502 (8:80495994 GT>G), RS1000092294 (8:80489981 T>A), RS1000132366 (8:80497277 C>A), RS1000245687 (8:80488667 A>G), RS1000297707 (8:80488432 C>T), RS1000354177 (8:80507145 T>C), RS1000364412 (8:80485175 T>C), RS1000508612 (8:80500619 T>C), RS1000647268 (8:80522035 G>A), RS1000787349 (8:80507409 G>A), RS1000848921 (8:80503749 C>G), RS1000852356 (8:80493505 G>T), RS1000881056 (8:80487556 C>G,T)
Disease associations
OMIM: gene MIM:618576 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
42 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001363_4 | Atopic dermatitis | 1.000000e-06 |
| GCST001474_11 | Hypothyroidism | 4.000000e-06 |
| GCST001612_20 | Sex hormone-binding globulin levels | 3.000000e-09 |
| GCST001612_4 | Sex hormone-binding globulin levels | 7.000000e-08 |
| GCST002083_23 | Self-reported allergy | 8.000000e-08 |
| GCST002322_9 | Asthma and hay fever | 4.000000e-09 |
| GCST002783_291 | Body mass index | 2.000000e-07 |
| GCST002783_547 | Body mass index | 1.000000e-07 |
| GCST002783_59 | Body mass index | 4.000000e-08 |
| GCST003184_14 | Atopic dermatitis | 5.000000e-18 |
| GCST003184_6 | Atopic dermatitis | 2.000000e-16 |
| GCST003251_11 | Late-onset myasthenia gravis | 9.000000e-10 |
| GCST003726_25 | Basal cell carcinoma | 9.000000e-11 |
| GCST003987_14 | Asthma | 1.000000e-11 |
| GCST003990_20 | Allergy | 1.000000e-09 |
| GCST004904_79 | Body mass index | 1.000000e-13 |
| GCST005038_70 | Allergic disease (asthma, hay fever or eczema) | 4.000000e-20 |
| GCST005212_33 | Asthma | 1.000000e-10 |
| GCST006409_23 | Allergic rhinitis | 2.000000e-10 |
| GCST006810_8 | Self-reported risk-taking behaviour | 6.000000e-10 |
| GCST006811_4 | Body mass index | 2.000000e-09 |
| GCST006862_8 | Asthma | 2.000000e-08 |
| GCST006979_465 | Heel bone mineral density | 7.000000e-11 |
| GCST007325_277 | General risk tolerance (MTAG) | 5.000000e-13 |
| GCST007564_18 | Asthma or allergic disease (pleiotropy) | 2.000000e-09 |
| GCST007798_85 | Asthma | 3.000000e-24 |
| GCST007798_86 | Asthma | 6.000000e-24 |
| GCST007799_21 | Asthma (adult onset) | 4.000000e-16 |
| GCST007800_10 | Asthma (childhood onset) | 2.000000e-30 |
| GCST007993_23 | Asthma (adult onset) | 9.000000e-08 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004696 | sex hormone-binding globulin measurement |
| EFO:0004340 | body mass index |
| EFO:0008579 | risk-taking behaviour |
| EFO:0009270 | heel bone mineral density |
| EFO:1002011 | adult onset asthma |
| EFO:0007778 | urinary albumin to creatinine ratio |
| EFO:0004348 | hematocrit |
| EFO:0007984 | platelet component distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5069372 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
62 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, affects expression, increases expression, affects cotreatment | 8 |
| sodium arsenite | decreases expression, increases expression | 3 |
| Nickel | increases expression, decreases expression | 3 |
| Quercetin | affects cotreatment, decreases reaction, increases expression, decreases expression | 3 |
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | decreases expression, affects cotreatment | 2 |
| Metribolone | increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| GSK-J4 | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | decreases expression, increases methylation | 1 |
| geraniol | increases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| trichostatin A | decreases expression | 1 |
| hyperoside | increases expression, decreases expression, affects cotreatment, decreases reaction | 1 |
| potassium chromate(VI) | increases expression | 1 |
| nickel sulfate | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| avobenzone | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | increases expression | 1 |
| pentabromodiphenyl ether | 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 |
| abrine | increases expression | 1 |
| ON 01910 | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5059505 | Binding | Proteomics fold change data (SUDHL4 cells, 1h) | Data for DCP probe CCT369260 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_XV85 | HEK293 eGFP-ZBTB10 | Transformed cell line | Female |
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): adult-onset myasthenia gravis, atopic eczema, hypothyroidism, seasonal allergic rhinitis