ZBTB48

Summary

ZBTB48 (zinc finger and BTB domain containing 48, HGNC:4930) is a protein-coding gene on chromosome 1p36.31, encoding Zinc finger and BTB domain-containing protein 48 (P10074). Plays a critical role in transcriptional regulation and chromatin remodeling.

Enables double-stranded telomeric DNA binding activity; identical protein binding activity; and transcription cis-regulatory region binding activity. Involved in positive regulation of DNA-templated transcription and telomere maintenance via telomere lengthening. Located in chromosome, telomeric region.

Source: NCBI Gene 3104 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 88 total
• Druggable target: yes
• Cancer driver (intOGen): activating (oncogene-like) across 1 cancer types
• MANE Select transcript: NM_005341

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4930
Approved symbol	ZBTB48
Name	zinc finger and BTB domain containing 48
Location	1p36.31
Locus type	gene with protein product
Status	Approved
Aliases	ZNF855, TZAP
Ensembl gene	ENSG00000204859
Ensembl biotype	protein_coding
OMIM	165270
Entrez	3104

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 17 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay

ENST00000319084, ENST00000377674, ENST00000435905, ENST00000466813, ENST00000466941, ENST00000482360, ENST00000488936, ENST00000498342, ENST00000902993, ENST00000902994, ENST00000902995, ENST00000902996, ENST00000902997, ENST00000902998, ENST00000902999, ENST00000915764, ENST00000915765, ENST00000915766, ENST00000915767, ENST00000953434, ENST00000953435

RefSeq mRNA: 3 — MANE Select: NM_005341 NM_001278647, NM_001278648, NM_005341

CCDS: CCDS84

Canonical transcript exons

ENST00000377674 — 11 exons

Exon	Start	End
ENSE00001474830	6580541	6581299
ENSE00001474832	6579994	6580136
ENSE00002763933	6585919	6586030
ENSE00002765041	6586695	6586787
ENSE00003505740	6588060	6588196
ENSE00003560397	6588278	6588442
ENSE00003588406	6587205	6587291
ENSE00003624634	6588756	6588844
ENSE00003652787	6587478	6587632
ENSE00003687096	6588916	6589280
ENSE00003785133	6582058	6582299

Expression profiles

Bgee: expression breadth ubiquitous, 205 present calls, max score 93.77.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.0570 / max 108.5483, expressed in 1787 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
403	9.2103	1780
404	0.8467	419

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	93.77	gold quality
left testis	UBERON:0004533	93.54	gold quality
granulocyte	CL:0000094	93.48	gold quality
right testis	UBERON:0004534	93.47	gold quality
mucosa of transverse colon	UBERON:0004991	92.73	gold quality
right lobe of thyroid gland	UBERON:0001119	92.25	gold quality
adenohypophysis	UBERON:0002196	92.10	gold quality
right ovary	UBERON:0002118	91.45	gold quality
left lobe of thyroid gland	UBERON:0001120	91.25	gold quality
testis	UBERON:0000473	91.23	gold quality
spleen	UBERON:0002106	91.08	gold quality
left ovary	UBERON:0002119	90.97	gold quality
lower esophagus mucosa	UBERON:0035834	90.61	gold quality
right uterine tube	UBERON:0001302	90.34	gold quality
pituitary gland	UBERON:0000007	90.19	gold quality
thyroid gland	UBERON:0002046	89.96	gold quality
ectocervix	UBERON:0012249	89.91	gold quality
small intestine Peyer’s patch	UBERON:0003454	89.74	gold quality
metanephros cortex	UBERON:0010533	89.73	gold quality
monocyte	CL:0000576	89.72	gold quality
endocervix	UBERON:0000458	89.68	gold quality
tibial nerve	UBERON:0001323	89.68	gold quality
transverse colon	UBERON:0001157	89.11	gold quality
body of uterus	UBERON:0009853	89.10	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	89.08	gold quality
mononuclear cell	CL:0000842	89.06	gold quality
skin of abdomen	UBERON:0001416	89.04	gold quality
leukocyte	CL:0000738	88.85	gold quality
left uterine tube	UBERON:0001303	88.78	gold quality
right adrenal gland cortex	UBERON:0035827	88.76	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.89

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
CDKN2A	Unknown

JASPAR motifs

Motif	Name	Family
MA2470.1	ZBTB48	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:28082411

Literature-anchored findings (GeneRIF, showing 8)

• HKR3 potently activated the transcription of the tumor suppressor gene ARF by acting on the proximal promoter region (bp, -149 approximately +53), which contains Sp1 and FBI-1 binding elements (FREs). (PMID:24382891)
• this study describes a specific telomere-associated protein: TZAP (telomeric zinc finger-associated protein). Binding of TZAP to long telomeres represents the switch that triggers telomere trimming, setting the upper limit of telomere length. (PMID:28082411)
• study demonstrate through a combination of RNAseq, ChIPseq and expression proteomics experiments that ZBTB48 acts as a transcriptional activator on a small set of target genes, including mitochondrial fission process 1 (MTFP1). This discovery places ZBTB48 at the interface of telomere length regulation, transcriptional control and mitochondrial metabolism (PMID:28500257)
• The ZBTB48 (TZAP) mutation (c.1272 G > A, L424L) was found in 7.8% of128 breast cancer (BC) patients and was associated with the N0 stage. BCs with the TZAP mutation had longer telomeres than those without this mutation. Survival analysis showed that the TZAP mutation resulted in poorer overall survival. (PMID:31752241)
• Clinical and Prognostic Significance of TZAP Expression in Cervical Cancer. (PMID:32344888)
• Prognostic Value of Telomeric Zinc Finger-Associated Protein Expression in Adenocarcinoma and Squamous Cell Carcinoma of Lung. (PMID:34833441)
• Clinical Characteristics of TZAP (ZBTB48) in Hepatocellular Carcinomas from Tissue, Cell Line, and TCGA. (PMID:36556980)
• Recruitment of the m[6]A/m6Am demethylase FTO to target RNAs by the telomeric zinc finger protein ZBTB48. (PMID:39300486)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	zbtb48	ENSDARG00000039263
mus_musculus	Zbtb48	ENSMUSG00000028952
rattus_norvegicus	Zbtb48	ENSRNOG00000009595

Paralogs (36): ZNF302 (ENSG00000089335), ZNF184 (ENSG00000096654), CTCF (ENSG00000102974), ZNF574 (ENSG00000105732), ZBTB24 (ENSG00000112365), ZNF142 (ENSG00000115568), CTCFL (ENSG00000124092), ZNF473 (ENSG00000142528), ZNF827 (ENSG00000151612), ZNF689 (ENSG00000156853), ZNF208 (ENSG00000160321), ZNF91 (ENSG00000167232), ZNF526 (ENSG00000167625), ZNF764 (ENSG00000169951), ZNF747 (ENSG00000169955), ZNF282 (ENSG00000170265), ZNF160 (ENSG00000170949), ZNF497 (ENSG00000174586), ZBTB34 (ENSG00000177125), ZNF771 (ENSG00000179965), ZNF48 (ENSG00000180035), ZNF594 (ENSG00000180626), ZBTB37 (ENSG00000185278), ZFP92 (ENSG00000189420), ZNF107 (ENSG00000196247), ZNF729 (ENSG00000196350), ZNF569 (ENSG00000196437), ZNF420 (ENSG00000197050), ZNF785 (ENSG00000197162), ZNF665 (ENSG00000197497), ZNF181 (ENSG00000197841), ZNF347 (ENSG00000197937), ZNF84 (ENSG00000198040), ZNF845 (ENSG00000213799), ZNF99 (ENSG00000213973), ZNF688 (ENSG00000229809)

Protein

Protein identifiers

Zinc finger and BTB domain-containing protein 48 — P10074 (reviewed: P10074)

Alternative names: Krueppel-related zinc finger protein 3, Telomere zinc finger-associated protein, Telomere-binding protein and transcriptional activator ZBTB48, Zinc finger protein 855

All UniProt accessions (5): P10074, K7EM76, K7ENV2, Q5SY20, Q5SY21

UniProt curated annotations — full annotation on UniProt →

Function. Plays a critical role in transcriptional regulation and chromatin remodeling. Acts as a regulator of telomere length. Directly binds the telomeric double-stranded 5’-TTAGGG-3’ repeat. Preferentially binds to telomeres that have a low concentration of shelterin complex and acts as a regulator of telomere length by initiating telomere trimming, a process that prevents the accumulation of aberrantly long telomeres. Also acts as a transcription regulator that binds to promoter regions. Regulates expression of a small subset of genes, including MTFP1. Acts as a negative regulator of cell proliferation by specifically activating expression of ARF, a tumor suppressor isoform of CDKN2A. Acts as a transcription regulator of CIITA, the major factor regulating MHC class II gene expression. In addition, regulates cellular m6A/m6Am methylation on RNA by facilitating the recruitment of the RNA demethylase, FTO, to target mRNAs.

Subunit / interactions. Interacts with EP300.

Subcellular location. Nucleus. Chromosome. Telomere.

Tissue specificity. Detected in adrenal gland and neuroblastoma.

Domain organisation. The C2H2-type zinc fingers mediate binding to the telomeric double-stranded 5’-TTAGGG-3’ repeats. The last C2H2-type zinc finger is required for telomeric-binding. The two last C2H2-type zinc fingers are required for CIITA promoter III binding.

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

RefSeq proteins (3): NP_001265576, NP_001265577, NP_005332* (*=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
IPR050758	Znf_C2H2-type	Family

Pfam: PF00096, PF00651

UniProt features (69 total): binding site 24, zinc finger region 11, helix 9, strand 6, sequence conflict 4, modified residue 3, turn 3, region of interest 2, cross-link 2, chain 1, domain 1, compositionally biased region 1, sequence variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
3B84	X-RAY DIFFRACTION	1.74
5YJ3	X-RAY DIFFRACTION	2.85

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P10074-F1	64.87	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.

Ligand- & substrate-binding residues (24): 293; 296; 309; 313; 321; 324; 337; 342; 352; 355; 368; 372 …

Post-translational modifications (5): 169, 171, 179, 143, 263

Mutagenesis-validated functional residues (1):

Position	Phenotype
596	abolishes binding to the telomeric double-stranded 5’-ttaggg-3’ repeat.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 99 (showing top): GOBP_CHROMOSOME_ORGANIZATION, GOBP_TELOMERE_MAINTENANCE_VIA_TELOMERE_LENGTHENING, GOBP_TELOMERE_ORGANIZATION, WHITE_NEUROBLASTOMA_WITH_1P36.3_DELETION, EFC_Q6, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, KMCATNNWGGA_UNKNOWN, MODULE_123, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, FAELT_B_CLL_WITH_VH3_21_UP, GOCC_CHROMOSOMAL_REGION, SANSOM_APC_MYC_TARGETS, SANSOM_APC_TARGETS_REQUIRE_MYC, GOCC_CHROMOSOME_TELOMERIC_REGION

GO Biological Process (4): regulation of transcription by RNA polymerase II (GO:0006357), telomere maintenance via telomere lengthening (GO:0010833), positive regulation of DNA-templated transcription (GO:0045893), regulation of RNA metabolic process (GO:0051252)

GO Molecular Function (11): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), double-stranded telomeric DNA binding (GO:0003691), DNA-binding transcription factor activity (GO:0003700), RNA binding (GO:0003723), zinc ion binding (GO:0008270), identical protein binding (GO:0042802), DNA binding (GO:0003677), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565), metal ion binding (GO:0046872)

GO Cellular Component (3): chromosome, telomeric region (GO:0000781), nucleus (GO:0005634), chromosome (GO:0005694)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	3
nucleic acid binding	2
transcription by RNA polymerase II	1
telomere maintenance	1
DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
RNA metabolic process	1
regulation of nucleobase-containing compound metabolic process	1
regulation of macromolecule metabolic process	1
transcription regulatory region nucleic acid binding	1
sequence-specific double-stranded DNA binding	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
cis-regulatory region sequence-specific DNA binding	1
double-stranded DNA binding	1
telomeric repeat DNA binding	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
transition metal ion binding	1
protein binding	1
binding	1
DNA binding	1
cation binding	1
chromosomal region	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1118 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZBTB48	TERF1	P54274	636
ZBTB48	NOL9	Q5SY16	626
ZBTB48	DCLRE1B	Q9H816	538
ZBTB48	TAS1R1	Q7RTX1	502
ZBTB48	MYCL	P12524	498
ZBTB48	TINF2	Q9BSI4	479
ZBTB48	NAIF1	Q69YI7	471
ZBTB48	TERF2	Q15554	455
ZBTB48	MYCN	P04198	455
ZBTB48	HMBOX1	Q6NT76	446
ZBTB48	TERB2	Q8NHR7	439
ZBTB48	SRBD1	Q8N5C6	421
ZBTB48	NRAS	P01111	411
ZBTB48	NR2C2	P49116	410
ZBTB48	NR2C1	P13056	377

IntAct

107 interactions, top by confidence:

A	B	Type	Score
INO80E	TFPT	psi-mi:“MI:0914”(association)	0.790
ZBTB8A	ZBTB48	psi-mi:“MI:0915”(physical association)	0.780
ZBTB48	ZBTB8A	psi-mi:“MI:0915”(physical association)	0.780
NME7	ZBTB48	psi-mi:“MI:0915”(physical association)	0.720
ZBTB48	NME7	psi-mi:“MI:0915”(physical association)	0.720
ZBTB48	ZBTB48	psi-mi:“MI:0915”(physical association)	0.670
ZBTB48	TRIM41	psi-mi:“MI:0915”(physical association)	0.670
ZBTB48	DVL3	psi-mi:“MI:0915”(physical association)	0.670
DVL3	ZBTB48	psi-mi:“MI:0915”(physical association)	0.670
ZBTB48	KRTAP10-5	psi-mi:“MI:0915”(physical association)	0.560
ZBTB48	GPATCH2L	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-5	ZBTB48	psi-mi:“MI:0915”(physical association)	0.560
ZBTB48	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.560
ZBTB48	CEP70	psi-mi:“MI:0915”(physical association)	0.560
ZBTB48	THAP1	psi-mi:“MI:0915”(physical association)	0.560
ZBTB48	TSPYL2	psi-mi:“MI:0915”(physical association)	0.560
ZBTB48	L3MBTL2	psi-mi:“MI:0915”(physical association)	0.560
ZBTB48	SPANXN2	psi-mi:“MI:0915”(physical association)	0.560
ZBTB48	ZNF837	psi-mi:“MI:0915”(physical association)	0.560
ZBTB48	ZBTB9	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (213): ZBTB48 (Two-hybrid), NME7 (Two-hybrid), GPATCH2L (Two-hybrid), KRTAP10-5 (Two-hybrid), ZBTB8A (Two-hybrid), C7orf34 (Two-hybrid), ZBTB48 (Two-hybrid), ZBTB48 (Synthetic Growth Defect), ZBTB48 (Two-hybrid), TRIM41 (Two-hybrid), ZBTB48 (Affinity Capture-MS), ZBTB48 (Affinity Capture-MS), ZBTB48 (Affinity Capture-MS), ZBTB48 (Affinity Capture-MS), ZBTB48 (Affinity Capture-MS)

ESM2 similar proteins: A1L1J6, A2A5K6, A2APF3, D3ZUU2, E9Q8T2, G3V893, G5E8B9, O43167, O70237, O95625, P10074, P22227, P52739, P57071, P98169, Q05516, Q13105, Q1H9T6, Q3B725, Q3B7N9, Q3U288, Q3UH06, Q4VBD9, Q5DU09, Q5EAC5, Q5R633, Q5VTD9, Q60821, Q6DDV0, Q6GL52, Q6NS86, Q6YND2, Q6ZSB9, Q7TS63, Q80X44, Q8BKX7, Q8BXX2, Q8C8V1, Q8CCE9, Q8N1W2

Diamond homologs: A0A0A6YY25, B2RXH4, E0CZ16, E1B932, E7F6F9, F1LZ52, F1LZF0, F1MBP6, O88282, O93567, O95198, P10074, P17789, P42282, P42283, P42284, Q01295, Q1H9T6, Q24174, Q24206, Q3B7M1, Q52KG4, Q53G59, Q53HC5, Q5R633, Q5REP9, Q5U374, Q66HD2, Q6NRH0, Q7KQZ4, Q7KRI2, Q867Z4, Q86B87, Q8BGY4, Q8BZM0, Q8CA72, Q8IN81, Q8JZP3, Q8K0L9, Q8N143

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 56 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
regulation of cell cycle	6	9.5×	8e-03

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 1 cancer types — ANGS.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	75
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1928 predictions. Top by Δscore:

Variant	Effect	Δscore
1:6581063:G:GT	donor_gain	1.0000
1:6585913:T:A	acceptor_gain	1.0000
1:6585913:TGGCA:T	acceptor_loss	1.0000
1:6585914:GGCA:G	acceptor_loss	1.0000
1:6585915:GCA:G	acceptor_loss	1.0000
1:6585916:CAGGA:C	acceptor_loss	1.0000
1:6586772:G:T	donor_gain	1.0000
1:6587203:A:AG	acceptor_gain	1.0000
1:6587203:AGT:A	acceptor_gain	1.0000
1:6587204:G:GT	acceptor_gain	1.0000
1:6587204:GT:G	acceptor_gain	1.0000
1:6587204:GTG:G	acceptor_gain	1.0000
1:6587204:GTGT:G	acceptor_gain	1.0000
1:6587204:GTGTT:G	acceptor_gain	1.0000
1:6587287:ATGCA:A	donor_gain	1.0000
1:6587288:TGCA:T	donor_gain	1.0000
1:6587289:GCA:G	donor_gain	1.0000
1:6587289:GCAG:G	donor_gain	1.0000
1:6587290:CA:C	donor_gain	1.0000
1:6587292:G:GG	donor_gain	1.0000
1:6587292:GTAA:G	donor_loss	1.0000
1:6587293:T:G	donor_loss	1.0000
1:6587464:T:A	acceptor_gain	1.0000
1:6587476:A:AG	acceptor_gain	1.0000
1:6587477:G:GA	acceptor_gain	1.0000
1:6587513:A:AG	acceptor_gain	1.0000
1:6587514:G:GG	acceptor_gain	1.0000
1:6587514:GA:G	acceptor_gain	1.0000
1:6587629:ACAGG:A	donor_loss	1.0000
1:6587630:CAGG:C	donor_loss	1.0000

AlphaMissense

4546 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:6587565:T:C	C438R	1.000
1:6588100:T:C	F474L	1.000
1:6588102:C:A	F474L	1.000
1:6588102:C:G	F474L	1.000
1:6588184:T:C	F502L	1.000
1:6588186:C:A	F502L	1.000
1:6588186:C:G	F502L	1.000
1:6588349:T:C	F530L	1.000
1:6588351:C:A	F530L	1.000
1:6588351:C:G	F530L	1.000
1:6588415:T:C	C552R	1.000
1:6588812:T:C	C580R	1.000
1:6588833:T:C	F587L	1.000
1:6588834:T:C	F587S	1.000
1:6588835:T:A	F587L	1.000
1:6588835:T:G	F587L	1.000
1:6588923:T:C	L593P	1.000
1:6582244:T:C	C293R	0.999
1:6582253:T:C	C296R	0.999
1:6582265:T:C	F300L	0.999
1:6582266:T:C	F300S	0.999
1:6582267:C:A	F300L	0.999
1:6582267:C:G	F300L	0.999
1:6582284:T:C	L306P	0.999
1:6582292:C:G	H309D	0.999
1:6585925:T:A	H313Q	0.999
1:6585925:T:G	H313Q	0.999
1:6585947:T:C	C321R	0.999
1:6585956:T:C	C324R	0.999
1:6585987:T:C	L334P	0.999

dbSNP variants (sampled 300 via entrez): RS1000024691 (1:6579158 G>A), RS1000244169 (1:6588420 G>C), RS1001155888 (1:6584472 T>C), RS1001371752 (1:6583944 T>C), RS1001434005 (1:6584548 C>T), RS1001540873 (1:6586315 T>A), RS1001885224 (1:6584213 C>G,T), RS1001886888 (1:6586009 T>A,C), RS1001914386 (1:6580917 G>A), RS1003590264 (1:6582418 T>C), RS1003827265 (1:6585514 C>A), RS1003896582 (1:6588826 C>A,T), RS1004117369 (1:6585295 T>G), RS1004427144 (1:6585265 G>A), RS1004781637 (1:6583927 G>A)

Disease associations

OMIM: gene MIM:165270 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010989_23	Body size at age 10	2.000000e-13

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009819	comparative body size at age 10, self-reported

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5069366 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
FR900359	decreases phosphorylation	1
TAK-243	increases sumoylation	1
triphenyl phosphate	affects expression	1
perfluorooctanoic acid	decreases expression	1
M-VAC protocol	decreases response to substance	1
abrine	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Ethanol	affects cotreatment, increases abundance, increases expression	1
Caffeine	decreases phosphorylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Gasoline	affects cotreatment, increases abundance, increases expression	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects expression, increases abundance	1
Phthalic Acids	affects methylation	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, increases abundance, increases expression	1
Smoke	decreases expression	1
Particulate Matter	affects cotreatment, increases abundance, 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
CHEMBL5059499	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_XV92	HEK293 eGFP-ZBTB48	Transformed cell line	Female

Clinical trials (associated diseases)

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