ZBTB42

Summary

ZBTB42 (zinc finger and BTB domain containing 42, HGNC:32550) is a protein-coding gene on chromosome 14q32.33, encoding Zinc finger and BTB domain-containing protein 42 (B2RXF5). Transcriptional repressor.

The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the protein localizes to the nuclei of skeletal muscle cells. Knockdown of this gene in zebrafish results in abnormal skeletal muscle development and myofibrillar disorganization. A novel homozygous variant of the human gene has been associated with lethal congenital contracture syndrome, an autosomal recessive disorder that results in muscle wasting.

Source: NCBI Gene 100128927 — RefSeq curated summary.

At a glance

• Gene–disease (curated): lethal congenital contracture syndrome 6 (Moderate, GenCC)
• GWAS associations: 10
• Clinical variants (ClinVar): 77 total — 1 pathogenic
• Phenotypes (HPO): 8
• MANE Select transcript: NM_001137601

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32550
Approved symbol	ZBTB42
Name	zinc finger and BTB domain containing 42
Location	14q32.33
Locus type	gene with protein product
Status	Approved
Aliases	ZNF925
Ensembl gene	ENSG00000179627
Ensembl biotype	protein_coding
OMIM	613915
Entrez	100128927

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000342537, ENST00000555360, ENST00000962340

RefSeq mRNA: 2 — MANE Select: NM_001137601 NM_001137601, NM_001370342

CCDS: CCDS45174

Canonical transcript exons

ENST00000342537 — 1 exons

Exon	Start	End
ENSE00001213415	104801101	104804712

Expression profiles

Bgee: expression breadth ubiquitous, 163 present calls, max score 83.87.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.9119 / max 49.2911, expressed in 1038 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
141842	2.2605	1022
141843	0.6514	111

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	83.87	silver quality
esophagus squamous epithelium	UBERON:0006920	81.18	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.37	gold quality
apex of heart	UBERON:0002098	78.66	gold quality
body of pancreas	UBERON:0001150	78.15	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	77.48	gold quality
palpebral conjunctiva	UBERON:0001812	77.17	gold quality
gastrocnemius	UBERON:0001388	76.76	gold quality
body of stomach	UBERON:0001161	75.86	gold quality
muscle of leg	UBERON:0001383	75.31	gold quality
epithelial cell of pancreas	CL:0000083	75.30	gold quality
pancreas	UBERON:0001264	74.67	gold quality
amniotic fluid	UBERON:0000173	73.44	gold quality
nasal cavity mucosa	UBERON:0001826	73.40	gold quality
saliva-secreting gland	UBERON:0001044	73.39	gold quality
stomach	UBERON:0000945	73.14	gold quality
gingival epithelium	UBERON:0001949	73.14	gold quality
ventricular zone	UBERON:0003053	72.92	gold quality
heart left ventricle	UBERON:0002084	72.85	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	72.82	gold quality
esophagus mucosa	UBERON:0002469	72.67	gold quality
upper arm skin	UBERON:0004263	72.57	gold quality
minor salivary gland	UBERON:0001830	72.50	gold quality
cardiac ventricle	UBERON:0002082	72.46	gold quality
right lobe of thyroid gland	UBERON:0001119	72.15	gold quality
lower lobe of lung	UBERON:0008949	72.10	silver quality
hindlimb stylopod muscle	UBERON:0004252	72.04	gold quality
right lobe of liver	UBERON:0001114	72.00	gold quality
mouth mucosa	UBERON:0003729	71.65	gold quality
mucosa of transverse colon	UBERON:0004991	71.64	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.46
E-CURD-89	no	79.82

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

57 targeting ZBTB42, 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-8485	100.00	77.57	4731
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-3156-3P	99.76	66.72	939
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-1260A	99.61	66.67	1098
HSA-MIR-1260B	99.61	66.67	1098
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-3136-3P	99.57	66.59	781
HSA-MIR-7155-3P	99.57	66.48	794
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-199A-5P	99.51	69.71	1107
HSA-MIR-199B-5P	99.51	69.74	1098
HSA-MIR-12132	99.47	68.90	1341
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-532-3P	99.34	65.76	1195
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119

Literature-anchored findings (GeneRIF, showing 2)

• Data show that ZBTB42 protein is expressed in human skeletal muscle and a murine cell line C2C12 myotubes. (PMID:21193930)
• ZBTB42 mutation defines a novel lethal congenital contracture syndrome. (PMID:25055871)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:dkey-79d12.4	ENSDARG00000078018
mus_musculus	Zbtb42	ENSMUSG00000037638
rattus_norvegicus	Zbtb42	ENSRNOG00000037562

Paralogs (36): ZBTB32 (ENSG00000011590), SNAI2 (ENSG00000019549), PRDM1 (ENSG00000057657), PRDM6 (ENSG00000061455), ZNF76 (ENSG00000065029), PATZ1 (ENSG00000100105), MAZ (ENSG00000103495), ZBTB16 (ENSG00000109906), ZNF451 (ENSG00000112200), ZBTB45 (ENSG00000119574), ZNF410 (ENSG00000119725), SNAI1 (ENSG00000124216), ZNF384 (ENSG00000126746), ZBTB1 (ENSG00000126804), VEZF1 (ENSG00000136451), PRDM14 (ENSG00000147596), ZNF276 (ENSG00000158805), ZNF362 (ENSG00000160094), ZNF653 (ENSG00000161914), ZNF281 (ENSG00000162702), ZNF148 (ENSG00000163848), ZNF143 (ENSG00000166478), HIC2 (ENSG00000169635), PRDM10 (ENSG00000170325), ZNF296 (ENSG00000170684), ZNF692 (ENSG00000171163), ZNF575 (ENSG00000176472), HIC1 (ENSG00000177374), ZBTB18 (ENSG00000179456), ZBTB20 (ENSG00000181722), ZBTB7C (ENSG00000184828), SNAI3 (ENSG00000185669), ZFP91 (ENSG00000186660), MTF1 (ENSG00000188786), SCRT2 (ENSG00000215397), SCRT1 (ENSG00000261678)

Protein

Protein identifiers

Zinc finger and BTB domain-containing protein 42 — B2RXF5 (reviewed: B2RXF5)

All UniProt accessions (1): B2RXF5

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional repressor. Specifically binds DNA and probably acts by recruiting chromatin remodeling multiprotein complexes.

Subcellular location. Cytoplasm. Nucleus. Nucleoplasm.

Tissue specificity. Expressed in skeletal muscle (at protein level).

Disease relevance. Lethal congenital contracture syndrome 6 (LCCS6) [MIM:616248] A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS6 features include severe polyhydramnios and absent stomach, in addition to multiple contracture deformities. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family. ZBTB18 subfamily.

RefSeq proteins (2): NP_001131073, NP_001357271 (=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, PF13894

UniProt features (12 total): zinc finger region 4, region of interest 3, chain 1, domain 1, sequence variant 1, sequence conflict 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-B2RXF5-F1	50.03	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 87 (showing top): GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, BILD_E2F3_ONCOGENIC_SIGNATURE, chr14q32, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, GAUSSMANN_MLL_AF4_FUSION_TARGETS_G_UP, DODD_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_UP, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, MIR8485, MIR223_3P, GSE11924_TFH_VS_TH2_CD4_TCELL_UP, MIR571, GSE13493_DP_VS_CD4INTCD8POS_THYMOCYTE_UP

GO Biological Process (3): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), muscle organ development (GO:0007517)

GO Molecular Function (5): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA binding (GO:0003677), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), plasma membrane (GO:0005886)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of transcription by RNA polymerase II	2
transcription by RNA polymerase II	2
cellular anatomical structure	2
negative regulation of DNA-templated transcription	1
regulation of DNA-templated transcription	1
animal organ development	1
muscle structure development	1
chromatin	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
DNA-binding transcription factor activity	1
nucleic acid binding	1
transition metal ion binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

374 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZBTB42	UTP25	Q68CQ4	479
ZBTB42	TRERF1	Q96PN7	449
ZBTB42	SLC26A1	Q9H2B4	419
ZBTB42	ZG16B	Q96DA0	419
ZBTB42	GNA15	P30679	415
ZBTB42	CHST2	Q9Y4C5	384
ZBTB42	AKT1	P31749	376
ZBTB42	ANKEF1	Q9NU02	370
ZBTB42	GTPBP10	A4D1E9	321
ZBTB42	S100PBP	Q96BU1	310
ZBTB42	PGBD1	Q96JS3	309
ZBTB42	SULF2	Q8IWU5	305
ZBTB42	GRHL1	Q9NZI5	293
ZBTB42	SPDEF	O95238	292
ZBTB42	SCGB3A1	Q96QR1	284

IntAct

161 interactions, top by confidence:

A	B	Type	Score
ZBTB42	MDFI	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	KRT40	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	GOLGA2	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	ZBTB7B	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	MID2	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	NCK2	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	POLR1C	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	CIDEC	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	RAD51D	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	AIRIM	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	TTC23	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	ZNF330	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	USHBP1	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	KCTD9	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	NDOR1	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	CTBP2	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	BLK	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	MAGOHB	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	OTX1	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	OAZ3	psi-mi:“MI:0915”(physical association)	0.560
	ZBTB42	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	NOC4L	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	FMR1	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	CCDC102B	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	GUCD1	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	CINP	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	ZBTB16	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	GEM	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	KANK2	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	UBASH3A	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (78): ZBTB42 (Affinity Capture-MS), PRMT9 (Affinity Capture-MS), FBXL17 (Affinity Capture-MS), VRK1 (Affinity Capture-MS), RNF187 (Affinity Capture-MS), MID1 (Affinity Capture-MS), ZNF516 (Affinity Capture-MS), CTBP2 (Affinity Capture-MS), ZPR1 (Affinity Capture-MS), GGPS1 (Affinity Capture-MS), ZBTB42 (PCA), ZBTB42 (Affinity Capture-RNA), ZBTB42 (Two-hybrid), ZBTB42 (Two-hybrid), ZBTB42 (Two-hybrid)

ESM2 similar proteins: A0JNJ4, A2APT9, A6NEL2, A6NP61, B1ASB6, B1WBS3, B2RXF5, F6WEQ6, O15015, O43918, O88282, O88286, O95785, P98168, P98169, Q2M3G4, Q2MHN3, Q2QGD7, Q3U1J1, Q3U381, Q497V6, Q5SW24, Q5SXM2, Q6YND2, Q6ZMQ8, Q6ZMY3, Q7TN08, Q7TSX9, Q80SU3, Q80YE4, Q811H0, Q8BG26, Q8BZW2, Q8C8V1, Q8IX07, Q8IY92, Q8N143, Q8N1G0, Q8NC74, Q8TBE0

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.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	62
Likely benign	5
Benign	8

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
815682	GRCh37/hg19 14q32.33(chr14:104764078-107285437)x1	Pathogenic

SpliceAI

192 predictions. Top by Δscore:

Variant	Effect	Δscore
14:104800701:GT:G	donor_loss	0.9900
14:104800702:T:G	donor_loss	0.9900
14:104800701:G:GG	donor_gain	0.9700
14:104801255:C:G	donor_gain	0.9700
14:104800698:G:GT	donor_gain	0.9600
14:104800698:GAG:G	donor_gain	0.9600
14:104800697:GGAG:G	donor_gain	0.9500
14:104801175:GCCCA:G	acceptor_loss	0.9500
14:104801176:CCCA:C	acceptor_loss	0.9500
14:104801177:CCA:C	acceptor_loss	0.9500
14:104801178:CAGG:C	acceptor_loss	0.9500
14:104801179:A:AT	acceptor_loss	0.9500
14:104801072:G:GT	donor_gain	0.9300
14:104801072:G:T	donor_gain	0.9300
14:104801179:A:AG	acceptor_gain	0.9200
14:104801180:G:GG	acceptor_gain	0.9200
14:104801046:C:T	donor_gain	0.8800
14:104801180:GGT:G	acceptor_gain	0.8800
14:104801172:T:A	acceptor_loss	0.8700
14:104801357:A:AG	acceptor_gain	0.8700
14:104801358:G:GG	acceptor_gain	0.8700
14:104801357:AG:A	acceptor_gain	0.8500
14:104801358:GG:G	acceptor_gain	0.8500
14:104800909:G:GT	donor_gain	0.8400
14:104800679:A:T	donor_gain	0.8200
14:104801355:ACAG:A	acceptor_gain	0.8200
14:104801008:C:G	donor_gain	0.8000
14:104801076:T:TA	donor_gain	0.8000
14:104800703:GAGC:G	donor_loss	0.7700
14:104800923:G:GT	donor_gain	0.7500

AlphaMissense

2707 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:104802308:T:C	F371L	1.000
14:104802309:T:C	F371S	1.000
14:104802310:T:A	F371L	1.000
14:104802310:T:G	F371L	1.000
14:104802392:T:C	F399L	1.000
14:104802394:C:A	F399L	1.000
14:104802394:C:G	F399L	1.000
14:104802224:T:C	F343L	0.999
14:104802226:C:A	F343L	0.999
14:104802226:C:G	F343L	0.999
14:104802251:C:G	H352D	0.999
14:104802287:T:C	C364R	0.999
14:104802296:T:C	C367R	0.999
14:104802309:T:G	F371C	0.999
14:104802371:T:C	C392R	0.999
14:104802393:T:C	F399S	0.999
14:104802203:T:C	C336R	0.998
14:104802225:T:C	F343S	0.998
14:104802289:T:G	C364W	0.998
14:104802296:T:A	C367S	0.998
14:104802297:G:C	C367S	0.998
14:104802308:T:A	F371I	0.998
14:104802327:T:C	L377P	0.998
14:104802335:C:G	H380D	0.998
14:104802337:C:A	H380Q	0.998
14:104802337:C:G	H380Q	0.998
14:104802373:C:G	C392W	0.998
14:104802382:T:G	C395W	0.998
14:104802083:T:C	C296R	0.997
14:104802205:C:G	C336W	0.997

dbSNP variants (sampled 300 via entrez): RS1000065107 (14:104802696 C>A,T), RS1000442977 (14:104801677 C>A,G), RS1000699304 (14:104804368 C>T), RS1000731457 (14:104804598 G>A,T), RS1000896190 (14:104798813 C>T), RS1001199482 (14:104798653 C>G,T), RS1001717649 (14:104800601 C>G,T), RS1001845566 (14:104804446 T>C), RS1002033436 (14:104799359 A>AC), RS1002189007 (14:104804269 C>G,T), RS1002448034 (14:104799622 G>A), RS1003157437 (14:104802915 A>T), RS1003188776 (14:104803238 C>G,T), RS1003894309 (14:104804909 A>T), RS1003994434 (14:104799877 T>C)

Disease associations

OMIM: gene MIM:613915 | disease phenotypes: MIM:616248

GenCC curated gene-disease

Disease	Classification	Inheritance
lethal congenital contracture syndrome 6	Moderate	Autosomal recessive

Mondo (1): lethal congenital contracture syndrome 6 (MONDO:0014549)

Orphanet (0):

HPO phenotypes

8 total (8 of 8 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000256	Macrocephaly
HP:0001558	Decreased fetal movement
HP:0001561	Polyhydramnios
HP:0002803	Congenital contracture
HP:0002804	Arthrogryposis multiplex congenita
HP:0010963	Absence of stomach bubble on fetal sonography
HP:0030674	Antenatal onset

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST002223_64	HDL cholesterol	1.000000e-08
GCST002899_22	HDL cholesterol	8.000000e-09
GCST004232_77	HDL cholesterol levels	3.000000e-08
GCST008070_33	HDL cholesterol levels	2.000000e-09
GCST008075_103	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	3.000000e-19
GCST008075_47	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	7.000000e-14
GCST008084_16	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	1.000000e-13
GCST008084_228	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	3.000000e-20
GCST008085_162	HDL cholesterol levels in current drinkers	6.000000e-09
GCST008085_25	HDL cholesterol levels in current drinkers	2.000000e-12

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004329	alcohol drinking

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
rs3803300	AKT1, ZBTB42	3	0.25	1	risperidone

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cisplatin	affects cotreatment, increases expression, decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
FR900359	increases phosphorylation	1
hydroxyhydroquinone	decreases expression, decreases reaction	1
zinc chromate	decreases expression, increases abundance	1
ferrous chloride	decreases expression	1
4-aminobenzhydrazide	decreases expression, decreases reaction	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Arsenic Trioxide	increases expression	1
Benzo(a)pyrene	affects methylation	1
Benztropine	affects cotreatment, decreases expression	1
Cuprizone	affects cotreatment, decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	increases methylation	1
1-Methyl-4-phenylpyridinium	increases expression	1

Clinical trials (associated diseases)

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