ZBTB4

Summary

ZBTB4 (zinc finger and BTB domain containing 4, HGNC:23847) is a protein-coding gene on chromosome 17p13.1, encoding Zinc finger and BTB domain-containing protein 4 (Q9P1Z0). Transcriptional repressor with bimodal DNA-binding specificity.

Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; nucleotide binding activity; and protein homodimerization activity. Involved in DNA damage response and negative regulation of transcription by RNA polymerase II. Located in cytosol and nuclear body.

Source: NCBI Gene 57659 — RefSeq curated summary.

At a glance

• GWAS associations: 16
• Clinical variants (ClinVar): 174 total
• Transcription factor: yes — 15 downstream targets (CollecTRI)
• MANE Select transcript: NM_001128833

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23847
Approved symbol	ZBTB4
Name	zinc finger and BTB domain containing 4
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1538, KAISO-L1, ZNF903
Ensembl gene	ENSG00000174282
Ensembl biotype	protein_coding
OMIM	612308
Entrez	57659

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 15 protein_coding

ENST00000311403, ENST00000380599, ENST00000907857, ENST00000907858, ENST00000907859, ENST00000907860, ENST00000907861, ENST00000907862, ENST00000907863, ENST00000907864, ENST00000907865, ENST00000907866, ENST00000949767, ENST00000949768, ENST00000949769

RefSeq mRNA: 2 — MANE Select: NM_001128833 NM_001128833, NM_020899

CCDS: CCDS11107

Canonical transcript exons

ENST00000380599 — 4 exons

Exon	Start	End
ENSE00001202474	7467257	7467327
ENSE00001264161	7465711	7466810
ENSE00001525463	7479456	7479631
ENSE00003847418	7459378	7463890

Expression profiles

Bgee: expression breadth ubiquitous, 141 present calls, max score 94.56.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.6356 / max 271.3708, expressed in 1805 samples.

FANTOM5 promoters (16 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164240	8.2445	1754
164236	4.5836	1587
164233	3.0278	1366
164241	1.7574	647
164224	1.0564	559
164232	1.0396	612
164235	0.9689	628
164234	0.7268	458
164227	0.4739	243
164229	0.3499	168

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primary visual cortex	UBERON:0002436	94.56	gold quality
superior frontal gyrus	UBERON:0002661	94.26	gold quality
mucosa of stomach	UBERON:0001199	94.04	gold quality
popliteal artery	UBERON:0002250	93.83	gold quality
tibial artery	UBERON:0007610	93.82	gold quality
artery	UBERON:0001637	93.58	gold quality
prefrontal cortex	UBERON:0000451	93.56	gold quality
right coronary artery	UBERON:0001625	93.55	gold quality
frontal cortex	UBERON:0001870	93.52	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.50	gold quality
endocervix	UBERON:0000458	93.47	gold quality
lower esophagus	UBERON:0013473	93.47	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	93.42	gold quality
right frontal lobe	UBERON:0002810	93.39	gold quality
cerebellum	UBERON:0002037	93.08	gold quality
ovary	UBERON:0000992	93.06	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	93.05	gold quality
cerebellar cortex	UBERON:0002129	93.04	gold quality
cerebellar hemisphere	UBERON:0002245	92.99	gold quality
anterior cingulate cortex	UBERON:0009835	92.99	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.98	gold quality
cerebral cortex	UBERON:0000956	92.91	gold quality
left ovary	UBERON:0002119	92.91	gold quality
Brodmann (1909) area 9	UBERON:0013540	92.89	gold quality
uterine cervix	UBERON:0000002	92.85	gold quality
descending thoracic aorta	UBERON:0002345	92.82	gold quality
colonic epithelium	UBERON:0000397	92.64	gold quality
right ovary	UBERON:0002118	92.63	gold quality
urinary bladder	UBERON:0001255	92.60	gold quality
right lobe of thyroid gland	UBERON:0001119	92.58	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.02

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

15 targets.

Target	Regulation
AQP1
CBFA2T3
CDKN1A	Repression
COQ8A
FZD7
ITGB1
NCKAP1
RPL41
RPL7
RPS12
RPS15A
RPS6
SIN3A
SRSF2
TSC1

miRNA regulators (miRDB)

230 targeting ZBTB4, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-9983-3P	99.94	71.48	3631

Literature-anchored findings (GeneRIF, showing 13)

• ZBTB4 binds methylated methylated CpGs in vitro and in vivo and represses transcrption. (PMID:16354688)
• These data suggest that Zbtb4 is a critical determinant of the cellular response to p53 activation and reinforce the notion that p21Cip1 can provide an essential survival signal in cells with activated p53. (PMID:18451802)
• Results show that overexpressing HIPK2 causes the degradation of ZBTB4, whereas overexpressing a kinase-deficient mutant of HIPK2 has no effect. (PMID:19448668)
• the human zinc-finger protein ZBTB4 binds methylated DNA in a sequence-specific manner. (PMID:20403812)
• ZBTB4 functions as a novel tumor-suppressor gene with prognostic significance for breast cancer survival (PMID:21765466)
• Thus, EZH2 is reciprocally regulated by a novel signaling network consisting of Sp proteins, oncogenic miRs and ZBTB4, and modulation of this gene network is a novel therapeutic approach for treatment of breast cancer and possibly other cancers. (PMID:25499219)
• Our results establish the epigenetic regulator ZBTB4 as an essential component in maintaining genomic stability (PMID:27815388)
• Results show association between AAO of AD and both ZBTB4 and NCSTN. ZBTB4 is a transcriptional repressor that regulates the cell cycle, including the apoptotic response to amyloid beta, while NCSTN is part of the gamma secretase complex, known to influence amyloid beta production. (PMID:29045054)
• In vitro, ZBTB4 overexpression inhibited cell proliferation, and induced cell cycle arrest at G1 phase and apoptosis in SK-ES-1 and RD-ES cells. (PMID:29425745)
• miR-301-3p was highly expressed in gastric cancer contributed to tumor progression via attenuating ZBTB4 (PMID:31585814)
• Suppression of lncRNA MALAT1 reduces pro-inflammatory cytokines production by regulating miR-150-5p/ZBTB4 axis through JAK/STAT signal pathway in systemic juvenile idiopathic arthritis. (PMID:33341002)
• miRNA-576-5p promotes endometrial cancer cell growth and metastasis by targeting ZBTB4. (PMID:36538280)
• Identification of ZBTB4 as an immunological biomarker that can inhibit the proliferation and invasion of pancreatic cancer. (PMID:36949454)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	zbtb4	ENSDARG00000105255
mus_musculus	Zbtb4	ENSMUSG00000018750
rattus_norvegicus	Zbtb4	ENSRNOG00000014689
caenorhabditis_elegans		WBGENE00005008
caenorhabditis_elegans		WBGENE00006827
caenorhabditis_elegans		WBGENE00011924
caenorhabditis_elegans		WBGENE00011925

Paralogs (2): ZBTB38 (ENSG00000177311), ZNF438 (ENSG00000183621)

Protein

Protein identifiers

Zinc finger and BTB domain-containing protein 4 — Q9P1Z0 (reviewed: Q9P1Z0)

Alternative names: KAISO-like zinc finger protein 1

All UniProt accessions (1): Q9P1Z0

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional repressor with bimodal DNA-binding specificity. Represses transcription in a methyl-CpG-dependent manner. Binds with a higher affinity to methylated CpG dinucleotides in the consensus sequence 5’-CGCG-3’ but can also bind to the non-methylated consensus sequence 5’-CTGCNA-3’ also known as the consensus kaiso binding site (KBS). Can also bind specifically to a single methyl-CpG pair and can bind hemimethylated DNA but with a lower affinity compared to methylated DNA. Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal.

Subunit / interactions. Interacts with HIPK2. Interacts with CBFA2T3. Interacts with ZBTB38.

Subcellular location. Nucleus. Chromosome.

Post-translational modifications. Phosphorylated by HIPK2. This phosphorylation reduces stability and triggers ZBTB4 protein degradation in response to DNA damage.

RefSeq proteins (2): NP_001122305, NP_065950 (=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 (46 total): compositionally biased region 14, region of interest 8, zinc finger region 6, modified residue 4, cross-link 3, sequence variant 3, mutagenesis site 3, sequence conflict 2, chain 1, domain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P1Z0-F1	49.00	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 (7): 391, 795, 797, 983, 40, 573, 615

Mutagenesis-validated functional residues (3):

Position	Phenotype
795	impaired hipk2-mediated phosphorylation; when associated with a-797 and a-983.
797	impaired hipk2-mediated phosphorylation; when associated with a-795 and a-983.
983	impaired hipk2-mediated phosphorylation; when associated with a-795 and a-797.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 290 (showing top): GCACCTT_MIR18A_MIR18B, RNGTGGGC_UNKNOWN, E2F_Q4, TGCGCANK_UNKNOWN, E2F4DP1_01, TGCACTT_MIR519C_MIR519B_MIR519A, SP3_Q3, CHUANG_OXIDATIVE_STRESS_RESPONSE_UP, HNF1_Q6, CACCAGC_MIR138, CHANDRAN_METASTASIS_DN, YY1_Q6, TTGGGAG_MIR150, ATGTTAA_MIR302C, E2F1DP1_01

GO Biological Process (4): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355), DNA damage response (GO:0006974), negative regulation of DNA-templated transcription (GO:0045892)

GO Molecular Function (13): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), zinc ion binding (GO:0008270), methyl-CpG binding (GO:0008327), methyl-CpNpG binding (GO:0010428), protein kinase binding (GO:0019901), protein homodimerization activity (GO:0042803), sequence-specific DNA binding (GO:0043565), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), chromosome (GO:0005694), cytosol (GO:0005829), nuclear body (GO:0016604)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
regulation of transcription by RNA polymerase II	2
DNA-templated transcription	2
nucleotide binding	2
cellular anatomical structure	2
intracellular membraneless organelle	2
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cellular response to stress	1
regulation of DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
transcription cis-regulatory region binding	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
negative regulation of transcription by RNA polymerase II	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription repressor activity	1
transition metal ion binding	1
sequence-specific DNA binding	1
kinase binding	1
identical protein binding	1
protein dimerization activity	1
DNA binding	1
nucleic acid binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
nucleoplasm	1

Protein interactions and networks

STRING

1485 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZBTB4	ZBTB17	Q13105	773
ZBTB4	UHRF2	Q96PU4	647
ZBTB4	MGMT	P16455	624
ZBTB4	ZBTB33	Q86T24	615
ZBTB4	ZBTB38	Q8NAP3	586
ZBTB4	RAPSN	Q13702	584
ZBTB4	CTNND2	Q9UQB3	581
ZBTB4	UHRF1	Q96T88	574
ZBTB4	MBD4	O95243	572
ZBTB4	CTNND1	O60716	524
ZBTB4	SIN3A	Q96ST3	520
ZBTB4	HIPK2	Q9H2X6	518
ZBTB4	HDAC1	Q13547	515
ZBTB4	MECP2	P51608	509
ZBTB4	CBFA2T3	O75081	473

IntAct

51 interactions, top by confidence:

A	B	Type	Score
PIBF1	ZBTB4	psi-mi:“MI:0915”(physical association)	0.560
CCDC57	ZBTB4	psi-mi:“MI:0915”(physical association)	0.560
CEP70	ZBTB4	psi-mi:“MI:0915”(physical association)	0.560
CALCOCO2	ZBTB4	psi-mi:“MI:0915”(physical association)	0.560
BANP	ZBTB4	psi-mi:“MI:0915”(physical association)	0.560
CEP76	ZBTB4	psi-mi:“MI:0915”(physical association)	0.560
HOMER3	ZBTB4	psi-mi:“MI:0915”(physical association)	0.560
TRIM23	ZBTB4	psi-mi:“MI:0915”(physical association)	0.560
KLHL12	ZBTB4	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	ZBTB4	psi-mi:“MI:0915”(physical association)	0.560
PDE4DIP	ZBTB4	psi-mi:“MI:0915”(physical association)	0.560
POU6F2	ZBTB4	psi-mi:“MI:0915”(physical association)	0.560
GOLGA2	ZBTB4	psi-mi:“MI:0915”(physical association)	0.560
TP53BP2	ZBTB4	psi-mi:“MI:0915”(physical association)	0.560
ZBTB4		psi-mi:“MI:0915”(physical association)	0.370
PRDM5	CASC3	psi-mi:“MI:0914”(association)	0.350
TP63	HNRNPR	psi-mi:“MI:0914”(association)	0.350
S100B	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
AFG2A	ESYT2	psi-mi:“MI:0914”(association)	0.350
AFG2B	MMP24OS	psi-mi:“MI:0914”(association)	0.350
ZBTB4	PIBF1	psi-mi:“MI:0915”(physical association)	0.000
ZBTB4	CCDC57	psi-mi:“MI:0915”(physical association)	0.000
ZBTB4	CEP70	psi-mi:“MI:0915”(physical association)	0.000
ZBTB4	CALCOCO2	psi-mi:“MI:0915”(physical association)	0.000
ZBTB4	BANP	psi-mi:“MI:0915”(physical association)	0.000
ZBTB4	CEP76	psi-mi:“MI:0915”(physical association)	0.000
ZBTB4	HOMER3	psi-mi:“MI:0915”(physical association)	0.000
ZBTB4	TRIM23	psi-mi:“MI:0915”(physical association)	0.000
ZBTB4	KLHL12	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (43): ZBTB17 (Affinity Capture-Western), ZBTB4 (Affinity Capture-Western), ZBTB4 (Affinity Capture-MS), ZBTB4 (Two-hybrid), ZBTB4 (Affinity Capture-MS), ZBTB4 (Two-hybrid), ZBTB4 (Two-hybrid), ZBTB4 (Two-hybrid), ZBTB4 (Two-hybrid), ZBTB4 (Two-hybrid), ZBTB4 (Two-hybrid), ZBTB4 (Two-hybrid), ZBTB4 (Two-hybrid), ZBTB4 (Two-hybrid), ZBTB4 (Two-hybrid)

ESM2 similar proteins: A0A2Z4LIS9, A2CE44, A6NFI3, E9PZZ1, O95201, P09066, P15863, P19622, P22091, P46099, P49640, P70338, P82976, P97503, P98168, P98169, Q05917, Q07120, Q13351, Q14549, Q14V87, Q15270, Q19A40, Q2QGD7, Q3SY56, Q3U133, Q58DK7, Q5DWN0, Q6IQX8, Q6NUN9, Q8C8V1, Q8NCA9, Q8TD94, Q8WUU4, Q924A2, Q92618, Q96RK0, Q99684, Q9BV97, Q9BYN7

Diamond homologs: A0JN76, A1YPR0, A6QQY2, B1WBS3, B2RXF5, D4A2K4, D4A8X0, F1LZF0, O14867, O15062, O15209, O35260, O43298, O43829, O88282, O88939, O93567, O95198, O95365, O95625, P97303, Q08376, Q08DS0, Q0D2A9, Q0IJ29, Q13105, Q14526, Q1L8W0, Q3B725, Q3B7M1, Q3U410, Q4KLM4, Q503R4, Q52KG4, Q562B4, Q5EXX3, Q5F293, Q5NBY9, Q5TJE2, Q5U374

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
miRNA-576-5p	“down-regulates quantity by destabilization”	ZBTB4	“post transcriptional regulation”
HIPK2	“down-regulates activity”	ZBTB4	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	146
Likely benign	14
Benign	8

Top pathogenic / likely-pathogenic (0)

SpliceAI

993 predictions. Top by Δscore:

Variant	Effect	Δscore
17:7463684:C:CA	donor_gain	0.9900
17:7463888:TACC:T	acceptor_loss	0.9900
17:7463889:ACCT:A	acceptor_loss	0.9900
17:7465706:CTCA:C	donor_loss	0.9900
17:7465707:TCACC:T	donor_loss	0.9900
17:7465708:CACC:C	donor_loss	0.9900
17:7465709:A:AC	donor_gain	0.9900
17:7465710:C:CC	donor_gain	0.9900
17:7465710:C:T	donor_loss	0.9900
17:7467328:C:CC	acceptor_gain	0.9900
17:7479453:CACC:C	donor_loss	0.9900
17:7479454:A:AT	donor_loss	0.9900
17:7479455:CCT:C	donor_loss	0.9900
17:7479455:CCTGA:C	donor_gain	0.9900
17:7479459:A:AC	donor_gain	0.9900
17:7479460:C:CC	donor_gain	0.9900
17:7481516:GATG:G	donor_gain	0.9900
17:7463903:A:T	acceptor_gain	0.9800
17:7463905:C:CT	acceptor_gain	0.9800
17:7465710:CCTG:C	donor_gain	0.9800
17:7467326:TTC:T	acceptor_loss	0.9800
17:7467327:TC:T	acceptor_loss	0.9800
17:7467328:CTGCG:C	acceptor_loss	0.9800
17:7481513:A:T	donor_gain	0.9800
17:7481517:ATGG:A	donor_loss	0.9800
17:7481520:G:GA	donor_loss	0.9800
17:7481521:TGAG:T	donor_loss	0.9800
17:7481522:GAGT:G	donor_loss	0.9800
17:7463897:C:CT	acceptor_gain	0.9700
17:7465796:T:TA	donor_gain	0.9700

AlphaMissense

6408 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:7463835:G:C	H383D	1.000
17:7463843:A:G	L380P	1.000
17:7463860:A:C	F374L	1.000
17:7463860:A:T	F374L	1.000
17:7463862:A:G	F374L	1.000
17:7463872:A:C	C370W	1.000
17:7463873:C:T	C370Y	1.000
17:7463874:A:G	C370R	1.000
17:7463881:G:C	C367W	1.000
17:7463882:C:T	C367Y	1.000
17:7463883:A:G	C367R	1.000
17:7465725:G:C	H359Q	1.000
17:7465725:G:T	H359Q	1.000
17:7465727:G:C	H359D	1.000
17:7465730:A:G	W358R	1.000
17:7465730:A:T	W358R	1.000
17:7465737:A:C	H355Q	1.000
17:7465737:A:T	H355Q	1.000
17:7465739:G:C	H355D	1.000
17:7465739:G:T	H355N	1.000
17:7465740:C:A	K354N	1.000
17:7465740:C:G	K354N	1.000
17:7465750:T:C	Y351C	1.000
17:7465751:A:G	Y351H	1.000
17:7465759:A:G	L348P	1.000
17:7465764:A:C	F346L	1.000
17:7465764:A:T	F346L	1.000
17:7465765:A:C	F346C	1.000
17:7465765:A:G	F346S	1.000
17:7465766:A:C	F346V	1.000

dbSNP variants (sampled 300 via entrez): RS1000037248 (17:7475121 C>T), RS1000232440 (17:7477714 G>A,C), RS1000373927 (17:7474407 T>C), RS1000442425 (17:7479604 C>A,T), RS1000460840 (17:7484368 T>C,G), RS1000536215 (17:7471583 C>G,T), RS1000743261 (17:7481254 T>C), RS1000795532 (17:7484407 A>G), RS1000919990 (17:7483979 A>C), RS1001236673 (17:7478762 G>T), RS1001286903 (17:7483352 GAC>G), RS1001397987 (17:7484980 C>T), RS1001738973 (17:7461355 GAGGA>G), RS1001765651 (17:7484811 G>T), RS1001788816 (17:7472843 T>C)

Disease associations

OMIM: gene MIM:612308 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST002647_118	Height	5.000000e-20
GCST006479_141	Diverticular disease	3.000000e-08
GCST007733_63	Serum uric acid levels	8.000000e-06
GCST008839_256	Height	9.000000e-12
GCST009222_6	Corpus callosum posterior volume	8.000000e-06
GCST010002_119	Refractive error	3.000000e-22
GCST010083_232	Hemoglobin levels	4.000000e-14
GCST010703_158	Brain morphology (MOSTest)	3.000000e-09
GCST012226_394	Waist circumference adjusted for body mass index	4.000000e-08
GCST90000025_119	Appendicular lean mass	1.000000e-39
GCST90000025_120	Appendicular lean mass	8.000000e-11
GCST90000026_43	Appendicular lean mass	5.000000e-21
GCST90000027_48	Appendicular lean mass	2.000000e-20
GCST90002384_402	Hemoglobin	5.000000e-14
GCST90020029_821	Waist circumference adjusted for body mass index	7.000000e-12
GCST90020029_822	Waist circumference adjusted for body mass index	2.000000e-13

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0009959	diverticular disease
EFO:0004761	uric acid measurement
EFO:0004509	hemoglobin measurement
EFO:0004346	neuroimaging measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2302764	CHRNB1, ZBTB4		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	4
Tetrachlorodibenzodioxin	increases expression	3
Benzo(a)pyrene	affects methylation, increases expression	2
bisphenol F	affects cotreatment, increases expression	1
TAK-243	decreases sumoylation	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
sodium arsenite	increases expression	1
ferrous chloride	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
aflatoxin B2	decreases methylation	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Zoledronic Acid	decreases expression	1
Artesunate	increases response to substance	1
Leflunomide	increases expression	1
Arsenic	affects methylation	1
Cadmium	decreases expression, increases abundance	1
Coumestrol	affects cotreatment, decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Dietary Carbohydrates	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Lead	affects expression	1
Methyl Methanesulfonate	increases expression	1
Methylcholanthrene	affects binding, increases reaction	1

Clinical trials (associated diseases)

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