ZBTB1

Summary

ZBTB1 (zinc finger and BTB domain containing 1, HGNC:20259) is a protein-coding gene on chromosome 14q23.3, encoding Zinc finger and BTB domain-containing protein 1 (Q9Y2K1). Acts as a transcriptional repressor.

Enables K63-linked polyubiquitin modification-dependent protein binding activity; protein heterodimerization activity; and protein homodimerization activity. Involved in several processes, including negative regulation of transcription by RNA polymerase II; nucleobase-containing compound biosynthetic process; and protein homooligomerization. Located in nuclear body and nuclear membrane.

Source: NCBI Gene 22890 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 1 total
• Druggable target: yes
• MANE Select transcript: NM_001123329

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20259
Approved symbol	ZBTB1
Name	zinc finger and BTB domain containing 1
Location	14q23.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0997, ZNF909
Ensembl gene	ENSG00000126804
Ensembl biotype	protein_coding
OMIM	616578
Entrez	22890

Gene structure

Transcript identifiers

Ensembl transcripts: 64 — 63 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000358738, ENST00000553583, ENST00000554015, ENST00000555321, ENST00000556818, ENST00000556965, ENST00000683701, ENST00000865017, ENST00000865018, ENST00000865019, ENST00000865020, ENST00000865021, ENST00000865022, ENST00000865023, ENST00000865024, ENST00000865025, ENST00000865026, ENST00000865027, ENST00000865028, ENST00000865029, ENST00000865030, ENST00000865031, ENST00000865032, ENST00000865033, ENST00000865034, ENST00000865035, ENST00000865036, ENST00000865037, ENST00000865038, ENST00000865039, ENST00000865040, ENST00000865041, ENST00000865042, ENST00000865043, ENST00000922367, ENST00000922368, ENST00000922369, ENST00000922370, ENST00000922371, ENST00000922372, ENST00000922373, ENST00000922374, ENST00000922375, ENST00000922376, ENST00000922377, ENST00000922378, ENST00000922379, ENST00000956968, ENST00000956969, ENST00000956970, ENST00000956971, ENST00000956972, ENST00000956973, ENST00000956974, ENST00000956975, ENST00000956976, ENST00000956977, ENST00000956978, ENST00000956979, ENST00000956980, ENST00000956981, ENST00000956982, ENST00000956983, ENST00000956984

RefSeq mRNA: 2 — MANE Select: NM_001123329 NM_001123329, NM_014950

CCDS: CCDS32097, CCDS45126

Canonical transcript exons

ENST00000683701 — 2 exons

Exon	Start	End
ENSE00003918349	64504770	64504946
ENSE00003918816	64521487	64524951

Expression profiles

Bgee: expression breadth ubiquitous, 285 present calls, max score 96.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.4451 / max 426.9141, expressed in 1802 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
140112	25.3817	1782
140111	2.1224	1146
140106	1.4266	775
140108	0.9232	463
140109	0.9168	532
140107	0.9136	545
140110	0.6848	380
140104	0.0562	26
140105	0.0199	7

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	96.48	gold quality
calcaneal tendon	UBERON:0003701	95.79	gold quality
male germ cell	CL:0000015	93.75	gold quality
lymph node	UBERON:0000029	92.77	gold quality
right uterine tube	UBERON:0001302	92.66	gold quality
mononuclear cell	CL:0000842	92.36	gold quality
monocyte	CL:0000576	92.35	gold quality
leukocyte	CL:0000738	92.32	gold quality
skin of hip	UBERON:0001554	92.01	gold quality
tendon	UBERON:0000043	91.77	gold quality
cartilage tissue	UBERON:0002418	91.49	gold quality
germinal epithelium of ovary	UBERON:0001304	91.22	gold quality
stromal cell of endometrium	CL:0002255	91.08	gold quality
blood vessel layer	UBERON:0004797	90.92	gold quality
endometrium	UBERON:0001295	90.83	gold quality
upper leg skin	UBERON:0004262	90.79	gold quality
vermiform appendix	UBERON:0001154	90.73	gold quality
tibia	UBERON:0000979	90.68	gold quality
right coronary artery	UBERON:0001625	90.62	gold quality
epithelium of nasopharynx	UBERON:0001951	90.31	gold quality
tibial artery	UBERON:0007610	90.26	gold quality
popliteal artery	UBERON:0002250	90.25	gold quality
descending thoracic aorta	UBERON:0002345	90.24	gold quality
tibial nerve	UBERON:0001323	90.22	gold quality
rectum	UBERON:0001052	89.95	gold quality
tonsil	UBERON:0002372	89.95	gold quality
left uterine tube	UBERON:0001303	89.90	gold quality
left coronary artery	UBERON:0001626	89.89	gold quality
spleen	UBERON:0002106	89.89	gold quality
pericardium	UBERON:0002407	89.74	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.68

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXO3

miRNA regulators (miRDB)

88 targeting ZBTB1, 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-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-548E-5P	99.89	72.73	4486

Literature-anchored findings (GeneRIF, showing 6)

• ZBTB1 protein may act as a transcription repressor in the activation of CREB and cAMP-mediated signal transduction pathways to mediate cellular functions. (PMID:21706167)
• ZBTB1 is required for localizing phospho-KAP-1 to chromatin and enhancing RAD18 accessibility during chromatin remodeling/DNA repair. (PMID:24657165)
• ZBTB1 Regulates Asparagine Synthesis and Leukemia Cell Response to L-Asparaginase. (PMID:32268116)
• A novel tumor suppressor ZBTB1 regulates tamoxifen resistance and aerobic glycolysis through suppressing HER2 expression in breast cancer. (PMID:32690611)
• Preliminary analysis of the expression of ZBTB1 in human pancreatic carcinoma. (PMID:34312970)
• Circ_0000442 functions as a tumor repressor in breast cancer by impacting miR-1229-3p and upregulating ZBTB1. (PMID:35394175)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	zbtb1	ENSDARG00000023040
mus_musculus	Zbtb1	ENSMUSG00000033454
rattus_norvegicus	Zbtb1	ENSRNOG00000058593

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), 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), ZBTB20 (ENSG00000181722), ZBTB7C (ENSG00000184828), SNAI3 (ENSG00000185669), ZFP91 (ENSG00000186660), MTF1 (ENSG00000188786), SCRT2 (ENSG00000215397), SCRT1 (ENSG00000261678)

Protein

Protein identifiers

Zinc finger and BTB domain-containing protein 1 — Q9Y2K1 (reviewed: Q9Y2K1)

All UniProt accessions (4): Q9Y2K1, G3V2I8, G3V3N0, G3V447

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a transcriptional repressor. Represses cAMP-responsive element (CRE)-mediated transcriptional activation. In addition, has a role in translesion DNA synthesis. Requires for UV-inducible RAD18 loading, PCNA monoubiquitination, POLH recruitment to replication factories and efficient translesion DNA synthesis. Plays a key role in the transcriptional regulation of T lymphocyte development.

Subunit / interactions. Homodimer. Homooligomer. Isoform 1 and isoform 2 can homodimerize. Heterodimer of isoform 1 and isoform 2. Interacts (via BTB domain) with TRIM28 (unphosphorylated or phosphorylated form).

Subcellular location. Nucleus. Nucleoplasm.

Post-translational modifications. Sumoylated with SUMO2 at Lys-328 and to a lesser extent at Lys-265. Sumoylation inhibits its transcriptional repression activity and regulates its subcellular localization.

Domain organisation. Both the BTB domain and C2H2-type motifs are necessary for transcriptional repression activity. The BTB domain is also necessary for oligomerization and efficient sumoylation. The hydrophobic cluster preceding Lys-328 enhanced sumoylation efficiency. The UBZ-type zinc finger domain is required for targeting ZBTB1 to UV damage sites and for PCNA monoubiquitination. UBZ-type zinc finger domain mediates binding to ‘Lys-63’-linked polyubiquitin chains (in vitro).

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y2K1-1	1	yes
Q9Y2K1-2	2

RefSeq proteins (2): NP_001116801, NP_055765 (=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: PF00651

UniProt features (40 total): cross-link 15, zinc finger region 8, mutagenesis site 6, region of interest 3, modified residue 2, sequence conflict 2, chain 1, domain 1, compositionally biased region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2K1-F1	54.36	0.00

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 (17): 355, 356, 3, 200, 205, 260, 265, 275, 283, 303, 316, 328, 340, 346, 381, 528, 563

Mutagenesis-validated functional residues (6):

Position	Phenotype
265	reduces sumoylation. inhibits transcriptional repressive activity. inhibits sumoylation and reduces transcriptional repr
325	reduces sumoylation of lys-328.
326	reduces sumoylation of lys-328.
328	reduces sumoylation. does not reduce transcriptional repressive activity. inhibits sumoylation but does not reduce trans
536	abolishes binding to ubiquitin; abolishes recruitment to dna lesion sites.
539	abolishes binding to ubiquitin; abolishes recruitment to dna lesion sites.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 275 (showing top): GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, GOBP_NATURAL_KILLER_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, GOBP_CELLULAR_RESPONSE_TO_UV, GOBP_B_CELL_ACTIVATION, GOBP_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, GOBP_THYMUS_DEVELOPMENT, GOBP_DNA_DAMAGE_TOLERANCE, BROWNE_HCMV_INFECTION_16HR_UP, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_CELL_CELL_ADHESION

GO Biological Process (20): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of cytokine production (GO:0001817), regulation of immune system process (GO:0002682), positive regulation of T cell mediated immunity (GO:0002711), DNA repair (GO:0006281), chromatin remodeling (GO:0006338), DNA damage response (GO:0006974), translesion synthesis (GO:0019985), B cell differentiation (GO:0030183), positive regulation of natural killer cell differentiation (GO:0032825), T cell differentiation in thymus (GO:0033077), cellular response to UV (GO:0034644), mRNA transcription by RNA polymerase II (GO:0042789), innate immune response (GO:0045087), positive regulation of T cell differentiation (GO:0045582), thymus development (GO:0048538), protein homooligomerization (GO:0051260), positive regulation of pro-T cell differentiation (GO:2000176), immune system process (GO:0002376), cell differentiation (GO:0030154)

GO Molecular Function (9): 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), protein homodimerization activity (GO:0042803), protein heterodimerization activity (GO:0046982), K63-linked polyubiquitin modification-dependent protein binding (GO:0070530), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear body (GO:0016604), nuclear membrane (GO:0031965)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription by RNA polymerase II	2
positive regulation of lymphocyte differentiation	2
T cell differentiation	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
protein dimerization activity	2
regulation of 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
T cell mediated immunity	1
positive regulation of lymphocyte mediated immunity	1
regulation of T cell mediated immunity	1
positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains	1
DNA metabolic process	1
DNA damage response	1
chromatin organization	1
cellular response to stress	1
DNA damage tolerance	1
DNA synthesis involved in DNA replication	1
lymphocyte differentiation	1
B cell activation	1
natural killer cell differentiation	1
positive regulation of natural killer cell activation	1
regulation of natural killer cell differentiation	1
response to UV	1
cellular response to light stimulus	1
mRNA transcription	1
immune response	1
defense response to symbiont	1
regulation of T cell differentiation	1
positive regulation of T cell activation	1
hematopoietic or lymphoid organ development	1
gland development	1
protein complex oligomerization	1
pro-T cell differentiation	1
positive regulation of T cell differentiation	1
positive regulation of lymphoid progenitor cell differentiation	1

Protein interactions and networks

STRING

1216 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZBTB1	TRIM28	Q13263	511
ZBTB1	LSMEM1	Q8N8F7	489
ZBTB1	RAD18	Q9NS91	453
ZBTB1	SIVA1	O15304	437
ZBTB1	PLEKHG1	Q9ULL1	423
ZBTB1	ZNF12	P17014	423
ZBTB1	ZNF746	Q6NUN9	413
ZBTB1	HACD3	Q9P035	410
ZBTB1	ZNF24	P17028	403
ZBTB1	EP300	Q09472	389
ZBTB1	ETNPPL	Q8TBG4	383
ZBTB1	SH2D4A	Q9H788	374
ZBTB1	CCDC70	Q6NSX1	368
ZBTB1	ZNF608	Q9ULD9	362
ZBTB1	KAT5	Q92993	356

IntAct

90 interactions, top by confidence:

A	B	Type	Score
CHAF1B	CHAF1A	psi-mi:“MI:0914”(association)	0.870
ZBTB1	FAM161A	psi-mi:“MI:0915”(physical association)	0.720
FAM161A	ZBTB1	psi-mi:“MI:0915”(physical association)	0.720
ZBTB1	AKR7A2	psi-mi:“MI:0915”(physical association)	0.670
AKR7A2	ZBTB1	psi-mi:“MI:0915”(physical association)	0.670
ZBTB25	ZBTB1	psi-mi:“MI:0915”(physical association)	0.670
ZNF76	FHL2	psi-mi:“MI:0914”(association)	0.670
GPR156	PLD2	psi-mi:“MI:0914”(association)	0.640
SDC2	PDPK1	psi-mi:“MI:0914”(association)	0.640
TRIM42	ZBTB1	psi-mi:“MI:0915”(physical association)	0.560
ZNF572	ZBTB1	psi-mi:“MI:0915”(physical association)	0.560
PIM1	ZBTB1	psi-mi:“MI:0915”(physical association)	0.560
ZNF417	ZBTB1	psi-mi:“MI:0915”(physical association)	0.560
ZBTB1	PIM1	psi-mi:“MI:0915”(physical association)	0.560
	ZBTB1	psi-mi:“MI:0915”(physical association)	0.560
KAT5	ZBTB1	psi-mi:“MI:0915”(physical association)	0.560
SCNM1	ZBTB1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (157): ZBTB1 (Two-hybrid), FAM161A (Two-hybrid), ZNF572 (Two-hybrid), ZNF417 (Two-hybrid), TRIM42 (Two-hybrid), ZBTB1 (Affinity Capture-MS), ZBTB1 (Biochemical Activity), UBC (Reconstituted Complex), ZBTB1 (Reconstituted Complex), ZBTB1 (Affinity Capture-MS), ZBTB1 (Affinity Capture-MS), ZBTB1 (Affinity Capture-MS), ZBTB1 (Two-hybrid), ZBTB1 (Affinity Capture-MS), ZBTB1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0A6YYL3, A5PK30, A7KBS4, B3NP26, B4GBA9, B4HMH2, B4P8I0, B4QIJ9, B7ZQJ9, E1JH25, G3X9G7, H3BUK9, P10925, P18853, P20662, P98182, Q09377, Q0VCB0, Q10127, Q19203, Q290S5, Q2EI20, Q2EI21, Q4R6J4, Q5NVT2, Q5PPG4, Q5SVQ8, Q5T5D7, Q5UR86, Q65XX7, Q6IQ21, Q6NRM8, Q7JUR5, Q7K4M4, Q7Z142, Q8BIQ8, Q8C0P7, Q8IRH5, Q8NAP3, Q8T053

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 76 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
Syndecan interactions	5	45.0×	3e-05
Cell surface interactions at the vascular wall	5	10.1×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

1 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

882 predictions. Top by Δscore:

Variant	Effect	Δscore
14:64503655:GCTTA:G	donor_loss	1.0000
14:64503656:CTTA:C	donor_loss	1.0000
14:64503657:TTACC:T	donor_loss	1.0000
14:64503658:TA:T	donor_loss	1.0000
14:64503659:AC:A	donor_gain	1.0000
14:64503659:ACCC:A	donor_loss	1.0000
14:64503660:C:CA	donor_loss	1.0000
14:64503660:CC:C	donor_gain	1.0000
14:64503659:A:AC	donor_gain	0.9900
14:64503660:C:CC	donor_gain	0.9900
14:64504942:GGCCG:G	donor_gain	0.9900
14:64504943:GCCG:G	donor_gain	0.9900
14:64504943:GCCGG:G	donor_gain	0.9900
14:64504945:CGGT:C	donor_loss	0.9900
14:64504947:G:GG	donor_gain	0.9900
14:64504947:GT:G	donor_loss	0.9900
14:64504948:TAAG:T	donor_loss	0.9900
14:64521482:CATA:C	acceptor_loss	0.9900
14:64521484:TAG:T	acceptor_loss	0.9900
14:64521485:AGGT:A	acceptor_loss	0.9900
14:64502757:G:C	donor_gain	0.9800
14:64504471:G:GT	donor_gain	0.9800
14:64521483:ATAG:A	acceptor_gain	0.9800
14:64521484:T:G	acceptor_gain	0.9800
14:64504944:CCG:C	donor_gain	0.9700
14:64504945:CG:C	donor_gain	0.9700
14:64504946:GG:G	donor_gain	0.9700
14:64505198:A:AG	donor_gain	0.9700
14:64521485:A:AG	acceptor_gain	0.9700
14:64521486:G:GG	acceptor_gain	0.9700

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000031367 (14:64526083 G>T), RS1000134756 (14:64533340 G>A), RS1000184916 (14:64532968 T>C), RS1000220281 (14:64519066 T>G), RS1000302372 (14:64505835 C>A,G), RS1000323786 (14:64504310 G>A,T), RS1000327322 (14:64526270 G>T), RS1000382419 (14:64526314 A>G), RS1000646288 (14:64533908 A>G,T), RS1000655719 (14:64519455 CAATTA>C), RS1000710083 (14:64508138 A>G), RS1000719765 (14:64512974 T>C), RS1000762563 (14:64508465 T>A), RS1000825597 (14:64520074 T>A), RS1000909226 (14:64507448 A>G,T)

Disease associations

OMIM: gene MIM:616578 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST009640_34	Urinary albumin-to-creatinine ratio	3.000000e-08
GCST90002388_133	Lymphocyte count	8.000000e-35
GCST90002399_355	Neutrophil percentage of white cells	5.000000e-19

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007778	urinary albumin to creatinine ratio
EFO:0004587	lymphocyte count
EFO:0007990	neutrophil percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5069370 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

55 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases methylation	7
Vorinostat	decreases expression	3
Benzo(a)pyrene	increases expression, affects methylation	3
Tetrachlorodibenzodioxin	affects expression, increases expression	3
methylmercuric chloride	increases expression	2
trichostatin A	affects expression, decreases expression	2
Formaldehyde	decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Cadmium Chloride	increases expression, decreases expression	2
aristolochic acid I	decreases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	increases phosphorylation	1
TAK-243	affects sumoylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
geraniol	increases expression	1
3,4-dichloroaniline	increases expression	1
methylparaben	decreases expression	1
sodium bichromate	increases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
cobaltous chloride	increases expression	1
butyraldehyde	decreases expression	1
coumarin	decreases phosphorylation	1
vanadyl sulfate	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
scriptaid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
belinostat	decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases 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
CHEMBL5059503	Binding	Proteomics fold change data (SUDHL4 cells, 1h)	Data for DCP probe CCT369260

Cellosaurus cell lines

2 cell lines: 1 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_C7Z5	HAP1 ZBTB1 (-)	Cancer cell line	Male
CVCL_HC98	HEK293 eGFP-ZBTB1	Transformed cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.