ZBTB2
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Also known as KIAA1483ZNF437bA351K16.2
Summary
ZBTB2 (zinc finger and BTB domain containing 2, HGNC:20868) is a protein-coding gene on chromosome 6q25.1, encoding Zinc finger and BTB domain-containing protein 2 (Q8N680). May be involved in transcriptional regulation.
Enables DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and identical protein binding activity. Involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be active in nucleoplasm.
Source: NCBI Gene 57621 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 51 total
- Druggable target: yes
- MANE Select transcript:
NM_020861
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20868 |
| Approved symbol | ZBTB2 |
| Name | zinc finger and BTB domain containing 2 |
| Location | 6q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1483, ZNF437, bA351K16.2 |
| Ensembl gene | ENSG00000181472 |
| Ensembl biotype | protein_coding |
| OMIM | 616595 |
| Entrez | 57621 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 10 protein_coding
ENST00000325144, ENST00000869305, ENST00000869306, ENST00000869307, ENST00000869308, ENST00000869309, ENST00000869310, ENST00000936201, ENST00000936202, ENST00000936203
RefSeq mRNA: 1 — MANE Select: NM_020861
NM_020861
CCDS: CCDS5231
Canonical transcript exons
ENST00000325144 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001247407 | 151391420 | 151391559 |
| ENSE00001247421 | 151364115 | 151366892 |
| ENSE00001444138 | 151373465 | 151373649 |
Expression profiles
Bgee: expression breadth ubiquitous, 231 present calls, max score 97.47.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.3303 / max 150.5887, expressed in 1773 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 76183 | 6.4234 | 1644 |
| 76184 | 1.3886 | 914 |
| 76186 | 1.3114 | 930 |
| 76185 | 0.7395 | 479 |
| 76180 | 0.5501 | 196 |
| 76188 | 0.4898 | 257 |
| 76187 | 0.4276 | 206 |
Top tissues by expression
241 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 97.47 | gold quality |
| oocyte | CL:0000023 | 93.24 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 91.24 | gold quality |
| sperm | CL:0000019 | 86.08 | gold quality |
| granulocyte | CL:0000094 | 84.43 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.06 | gold quality |
| leukocyte | CL:0000738 | 83.99 | gold quality |
| monocyte | CL:0000576 | 83.73 | gold quality |
| tibialis anterior | UBERON:0001385 | 82.02 | gold quality |
| lymph node | UBERON:0000029 | 82.01 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 81.83 | gold quality |
| ganglionic eminence | UBERON:0004023 | 81.80 | gold quality |
| cortical plate | UBERON:0005343 | 81.69 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 81.41 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.33 | gold quality |
| thyroid gland | UBERON:0002046 | 81.12 | gold quality |
| gastrocnemius | UBERON:0001388 | 81.10 | gold quality |
| stromal cell of endometrium | CL:0002255 | 81.04 | gold quality |
| deltoid | UBERON:0001476 | 80.88 | silver quality |
| gingival epithelium | UBERON:0001949 | 80.83 | silver quality |
| popliteal artery | UBERON:0002250 | 80.76 | gold quality |
| tibial artery | UBERON:0007610 | 80.76 | gold quality |
| ventricular zone | UBERON:0003053 | 80.75 | gold quality |
| muscle of leg | UBERON:0001383 | 80.74 | gold quality |
| rectum | UBERON:0001052 | 80.44 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 80.37 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 80.31 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 80.00 | gold quality |
| gingiva | UBERON:0001828 | 79.98 | silver quality |
| ileal mucosa | UBERON:0000331 | 79.72 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.04 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
4 targets.
| Target | Regulation |
|---|---|
| ARF1 | Repression |
| CDKN1A | Repression |
| MDM2 | Activation |
| TP53 | Repression |
miRNA regulators (miRDB)
171 targeting ZBTB2, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
Literature-anchored findings (GeneRIF, showing 13)
- ZBTB2 is a potential proto-oncogenic master control gene of the p53 pathway and, in particular, is a potent transcription repressor of the cell cycle arrest gene p21 by inhibiting p53 and Sp1 (PMID:19380588)
- ZBTB2 being considered as a multifunctional cell proliferation activator, notably through p21 repression, this work points out new epigenetic processes potentially involved in carcinogenesis. (PMID:24607898)
- ZBTB2 may increase cell proliferation by reprogramming glucose metabolic pathways to favor glycolysis by upregulating PDK4 expression via repression of RelA/p65 expression (PMID:25609694)
- long noncoding RNA CALML3-AS1 promotes tumorigenesis of bladder cancer via regulating ZBTB2 by suppression of microRNA-4316 (PMID:30177388)
- MicroRNA-488-3p inhibits proliferation and induces apoptosis by targeting ZBTB2 in esophageal squamous cell carcinoma. (PMID:31243806)
- MiR-4282 inhibits tumor progression through down-regulation of ZBTB2 by targeting LIN28B in oral squamous cell carcinoma. (PMID:31970774)
- OIP5-AS1 promotes the progression of gastric cancer cells via the miR-153-3p/ZBTB2 axis. (PMID:32196594)
- ZBTB2 protein is a new partner of the Nucleosome Remodeling and Deacetylase (NuRD) complex. (PMID:33301849)
- ZBTB2 links p53 deficiency to HIF-1-mediated hypoxia signaling to promote cancer aggressiveness. (PMID:36341521)
- ZBTB2 is Recruited to a Specific Subset of HIF-1 Target Loci to Facilitate Full Gene Expression Under Hypoxia. (PMID:37257772)
- The novel circ_0004674/miR-139-5p/ZBTB2 regulatory cascade inhibits the development of oral squamous cell carcinoma. (PMID:38665011)
- ZBTB7A forms a heterodimer with ZBTB2 and inhibits ZBTB2 homodimerization required for full activation of HIF-1. (PMID:39197198)
- APC and ZBTB2 May Mediate M2 Macrophage Infiltration to Promote the Development of Renal Fibrosis: A Bioinformatics Analysis. (PMID:39328595)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znfl2a | ENSDARG00000008333 |
| danio_rerio | zbtb2b | ENSDARG00000028086 |
| danio_rerio | zbtb2a | ENSDARG00000044038 |
| mus_musculus | Zbtb2 | ENSMUSG00000075327 |
| rattus_norvegicus | Zbtb2 | ENSRNOG00000019544 |
Protein
Protein identifiers
Zinc finger and BTB domain-containing protein 2 — Q8N680 (reviewed: Q8N680)
All UniProt accessions (1): Q8N680
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in transcriptional regulation.
Subcellular location. Nucleus.
RefSeq proteins (1): NP_065912* (*=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 |
Pfam: PF00096, PF00651
UniProt features (17 total): cross-link 6, zinc finger region 4, compositionally biased region 2, chain 1, domain 1, sequence conflict 1, region of interest 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N680-F1 | 57.51 | 0.06 |
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 (7): 147, 154, 362, 465, 505, 506, 341
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 196 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, TAATAAT_MIR126, CTATGCA_MIR153, WEI_MYCN_TARGETS_WITH_E_BOX, chr6q25, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOBP_CYTOKINE_PRODUCTION, DODD_NASOPHARYNGEAL_CARCINOMA_UP, AACTTT_UNKNOWN, TGAGATT_MIR216, TAATGTG_MIR323, SOX5_01, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, ZHENG_BOUND_BY_FOXP3, WGTTNNNNNAAA_UNKNOWN
GO Biological Process (3): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of cytokine production (GO:0001817), regulation of immune system process (GO:0002682)
GO Molecular Function (8): 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), identical protein binding (GO:0042802), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (2): nucleoplasm (GO:0005654), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 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 gene expression | 1 |
| regulation of multicellular organismal process | 1 |
| immune system process | 1 |
| regulation of biological process | 1 |
| cis-regulatory region sequence-specific DNA binding | 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 |
| transition metal ion binding | 1 |
| protein binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1496 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZBTB2 | RMND1 | Q9NWS8 | 655 |
| ZBTB2 | DCPH1 | Q9H993 | 633 |
| ZBTB2 | CCDC170 | Q8IYT3 | 584 |
| ZBTB2 | UBN2 | Q6ZU65 | 566 |
| ZBTB2 | CABIN1 | Q9Y6J0 | 553 |
| ZBTB2 | ZNF639 | Q9UID6 | 487 |
| ZBTB2 | SP1 | P08047 | 484 |
| ZBTB2 | MTHFD1L | Q6UB35 | 451 |
| ZBTB2 | KLHL15 | Q96M94 | 447 |
| ZBTB2 | PLEKHG1 | Q9ULL1 | 447 |
| ZBTB2 | PPP1R14C | Q8TAE6 | 406 |
| ZBTB2 | TMEM33 | P57088 | 396 |
| ZBTB2 | IER5L | Q5T953 | 383 |
| ZBTB2 | ZBTB7A | O95365 | 372 |
| ZBTB2 | AKAP12 | Q02952 | 367 |
IntAct
158 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HDAC2 | KDM1A | psi-mi:“MI:0914”(association) | 0.890 |
| PRDM14 | CBFA2T2 | psi-mi:“MI:0914”(association) | 0.860 |
| HDAC1 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.840 |
| RBBP7 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.840 |
| HDAC1 | TNRC18 | psi-mi:“MI:0914”(association) | 0.790 |
| RBBP4 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.790 |
| P4HB | P4HA2 | psi-mi:“MI:0914”(association) | 0.740 |
| HDAC1 | ZNF609 | psi-mi:“MI:0914”(association) | 0.730 |
| RBBP7 | HAT1 | psi-mi:“MI:0914”(association) | 0.730 |
| ZBTB2 | ZNF639 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ZBTB2 | RASSF8 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ZBTB25 | ZBTB2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ZBTB2 | ZBTB25 | psi-mi:“MI:0914”(association) | 0.670 |
| ZNF219 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.640 |
| CARNMT1 | NUP42 | psi-mi:“MI:0914”(association) | 0.640 |
| SPOP | JUN | psi-mi:“MI:0914”(association) | 0.600 |
| ZBTB2 | SPOP | psi-mi:“MI:0915”(physical association) | 0.600 |
| ZBTB2 | SPOP | psi-mi:“MI:2364”(proximity) | 0.600 |
| SPOP | ZBTB2 | psi-mi:“MI:2364”(proximity) | 0.600 |
| ZBTB2 | SP1 | psi-mi:“MI:0915”(physical association) | 0.580 |
| SP1 | ZBTB2 | psi-mi:“MI:0915”(physical association) | 0.580 |
| SUMO1 | ZBTB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZBTB2 | ZBTB18 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (496): ZBTB2 (Reconstituted Complex), ZBTB2 (Affinity Capture-MS), ZBTB2 (Affinity Capture-MS), ZBTB2 (Affinity Capture-MS), ZBTB2 (Affinity Capture-MS), ZBTB2 (Affinity Capture-MS), ZBTB2 (Affinity Capture-MS), ZBTB2 (Affinity Capture-MS), ZBTB2 (Affinity Capture-MS), ZBTB2 (Affinity Capture-MS), ZBTB2 (Affinity Capture-MS), ZBTB2 (Affinity Capture-MS), SP1 (Affinity Capture-Western), ZBTB2 (Affinity Capture-Western), SP1 (Reconstituted Complex)
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 90 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Transcriptional regulation of brown and beige adipocyte differentiation by EBF2 | 6 | 35.1× | 2e-06 |
| Regulation of PTEN gene transcription | 8 | 22.0× | 8e-07 |
| RNA Polymerase I Transcription Initiation | 6 | 20.7× | 5e-05 |
| NuRD complex assembly | 9 | 19.5× | 5e-07 |
| Maturation of DENV proteins | 6 | 19.5× | 6e-05 |
| Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells) | 8 | 18.0× | 2e-06 |
| Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks | 6 | 13.5× | 4e-04 |
| Potential therapeutics for SARS | 7 | 12.3× | 1e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of stem cell differentiation | 5 | 45.1× | 1e-05 |
| positive regulation of stem cell population maintenance | 5 | 20.2× | 4e-04 |
| negative regulation of transforming growth factor beta receptor signaling pathway | 6 | 12.3× | 8e-04 |
| negative regulation of cell migration | 6 | 7.9× | 5e-03 |
| chromatin remodeling | 8 | 6.9× | 2e-03 |
| DNA damage response | 8 | 5.0× | 8e-03 |
| negative regulation of cell population proliferation | 9 | 4.5× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
51 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 42 |
| Likely benign | 4 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
674 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:151366889:CTCA:C | acceptor_gain | 1.0000 |
| 6:151366891:CA:C | acceptor_gain | 1.0000 |
| 6:151366892:AC:A | acceptor_loss | 1.0000 |
| 6:151366893:C:CC | acceptor_gain | 1.0000 |
| 6:151366893:CTGAA:C | acceptor_loss | 1.0000 |
| 6:151391415:CTTA:C | donor_loss | 1.0000 |
| 6:151391416:TTACC:T | donor_loss | 1.0000 |
| 6:151391417:TACCT:T | donor_loss | 1.0000 |
| 6:151391418:A:AC | donor_gain | 1.0000 |
| 6:151391418:A:T | donor_loss | 1.0000 |
| 6:151391419:C:CC | donor_gain | 1.0000 |
| 6:151391419:C:CG | donor_loss | 1.0000 |
| 6:151391419:CCTGT:C | donor_gain | 1.0000 |
| 6:151366888:ACTCA:A | acceptor_gain | 0.9900 |
| 6:151366889:CTCAC:C | acceptor_gain | 0.9900 |
| 6:151366890:TCA:T | acceptor_gain | 0.9900 |
| 6:151366890:TCAC:T | acceptor_gain | 0.9900 |
| 6:151366891:CAC:C | acceptor_gain | 0.9900 |
| 6:151366894:T:A | acceptor_loss | 0.9900 |
| 6:151366903:C:CT | acceptor_gain | 0.9900 |
| 6:151366904:A:T | acceptor_gain | 0.9900 |
| 6:151373528:G:A | donor_gain | 0.9900 |
| 6:151388935:C:CT | donor_gain | 0.9900 |
| 6:151388936:T:TT | donor_gain | 0.9900 |
| 6:151391418:AC:A | donor_gain | 0.9900 |
| 6:151391419:CC:C | donor_gain | 0.9900 |
| 6:151391419:CCT:C | donor_gain | 0.9900 |
| 6:151366737:T:TA | donor_gain | 0.9800 |
| 6:151366906:G:C | acceptor_gain | 0.9800 |
| 6:151391419:CCTG:C | donor_gain | 0.9800 |
AlphaMissense
3401 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:151365718:A:G | C450R | 1.000 |
| 6:151365842:G:C | H408Q | 1.000 |
| 6:151365842:G:T | H408Q | 1.000 |
| 6:151365843:T:C | H408R | 1.000 |
| 6:151365844:G:C | H408D | 1.000 |
| 6:151365844:G:T | H408N | 1.000 |
| 6:151365863:C:A | R401S | 1.000 |
| 6:151365863:C:G | R401S | 1.000 |
| 6:151365864:C:A | R401M | 1.000 |
| 6:151365864:C:G | R401T | 1.000 |
| 6:151365869:A:C | F399L | 1.000 |
| 6:151365869:A:T | F399L | 1.000 |
| 6:151365870:A:C | F399C | 1.000 |
| 6:151365870:A:G | F399S | 1.000 |
| 6:151365871:A:G | F399L | 1.000 |
| 6:151365881:A:C | C395W | 1.000 |
| 6:151365882:C:T | C395Y | 1.000 |
| 6:151365883:A:G | C395R | 1.000 |
| 6:151365890:G:C | C392W | 1.000 |
| 6:151365891:C:G | C392S | 1.000 |
| 6:151365892:A:G | C392R | 1.000 |
| 6:151365892:A:T | C392S | 1.000 |
| 6:151365896:G:C | F390L | 1.000 |
| 6:151365896:G:T | F390L | 1.000 |
| 6:151365898:A:G | F390L | 1.000 |
| 6:151365911:G:C | H385Q | 1.000 |
| 6:151365911:G:T | H385Q | 1.000 |
| 6:151365912:T:A | H385L | 1.000 |
| 6:151365912:T:C | H385R | 1.000 |
| 6:151365912:T:G | H385P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000025207 (6:151389981 C>T), RS1000099038 (6:151384324 C>G), RS1000120347 (6:151390926 C>T), RS1000165155 (6:151382807 G>A), RS1000193493 (6:151375061 G>A), RS1000224481 (6:151375366 A>C,T), RS1000269012 (6:151366160 G>A), RS1000401892 (6:151369311 G>A), RS1000487330 (6:151373395 T>C), RS1000503119 (6:151380178 C>T), RS1000540666 (6:151373868 A>C), RS1000704427 (6:151373664 ATTTTAT>A), RS1000747546 (6:151368352 T>C), RS1000904588 (6:151393462 CA>C), RS1000994873 (6:151385807 C>A,T)
Disease associations
OMIM: gene MIM:616595 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001063_1 | Chronic myeloid leukemia | 2.000000e-06 |
| GCST010002_338 | Refractive error | 5.000000e-20 |
| GCST90000025_133 | Appendicular lean mass | 3.000000e-17 |
| GCST90002393_581 | Monocyte count | 8.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004980 | appendicular lean mass |
| EFO:0005091 | monocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5069373 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | decreases expression | 4 |
| Formaldehyde | decreases expression | 2 |
| Silver | increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-phenylbutyric acid | decreases expression | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| abrine | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Phenobarbital | affects expression | 1 |
| Quercetin | decreases expression | 1 |
| Rotenone | 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 |
|---|---|---|---|
| CHEMBL5059506 | Binding | Proteomics fold change data (SUDHL4 cells, 1h) | Data for DCP probe CCT369260 |
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): chronic myeloid leukemia