ZBTB14

Summary

ZBTB14 (zinc finger and BTB domain containing 14, HGNC:12860) is a protein-coding gene on chromosome 18p11.31, encoding Zinc finger and BTB domain-containing protein 14 (O43829). Transcriptional activator of the dopamine transporter (DAT), binding its promoter at the consensus sequence 5’-CCTGCACAGTTCACGGA-3'.

Enables DNA-binding transcription factor activity and transcription cis-regulatory region binding activity. Involved in negative regulation of DNA-templated transcription. Located in aggresome; cytosol; and nuclear lumen.

Source: NCBI Gene 7541 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 48 total — 1 pathogenic
• Druggable target: yes
• MANE Select transcript: NM_001243702

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12860
Approved symbol	ZBTB14
Name	zinc finger and BTB domain containing 14
Location	18p11.31
Locus type	gene with protein product
Status	Approved
Aliases	ZNF478
Ensembl gene	ENSG00000198081
Ensembl biotype	protein_coding
OMIM	602126
Entrez	7541

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 19 protein_coding, 1 retained_intron

ENST00000357006, ENST00000400143, ENST00000578327, ENST00000582135, ENST00000582388, ENST00000585253, ENST00000614697, ENST00000615385, ENST00000651870, ENST00000905718, ENST00000905719, ENST00000905720, ENST00000905721, ENST00000905722, ENST00000905724, ENST00000905725, ENST00000905726, ENST00000905728, ENST00000935472, ENST00000968937

RefSeq mRNA: 4 — MANE Select: NM_001243702 NM_001143823, NM_001243702, NM_001243704, NM_003409

CCDS: CCDS11837

Canonical transcript exons

ENST00000651870 — 4 exons

Exon	Start	End
ENSE00001385643	5293972	5294001
ENSE00003844037	5289022	5292204
ENSE00003850133	5295652	5295726
ENSE00003889951	5293244	5293327

Expression profiles

Bgee: expression breadth ubiquitous, 240 present calls, max score 90.85.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.4221 / max 132.9588, expressed in 1672 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
171094	3.1872	1454
171093	1.4409	841
171095	0.7940	523

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	90.85	gold quality
tendon	UBERON:0000043	86.96	gold quality
lymph node	UBERON:0000029	86.59	gold quality
monocyte	CL:0000576	85.56	gold quality
granulocyte	CL:0000094	85.53	gold quality
ganglionic eminence	UBERON:0004023	85.53	gold quality
leukocyte	CL:0000738	85.39	gold quality
mononuclear cell	CL:0000842	85.34	gold quality
gall bladder	UBERON:0002110	85.23	gold quality
cortical plate	UBERON:0005343	85.06	gold quality
ventricular zone	UBERON:0003053	84.29	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	84.01	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.91	gold quality
rectum	UBERON:0001052	83.41	gold quality
vermiform appendix	UBERON:0001154	83.35	gold quality
secondary oocyte	CL:0000655	82.32	gold quality
spinal cord	UBERON:0002240	82.32	gold quality
spleen	UBERON:0002106	82.18	gold quality
caecum	UBERON:0001153	82.15	gold quality
descending thoracic aorta	UBERON:0002345	81.67	gold quality
body of pancreas	UBERON:0001150	81.63	gold quality
pancreas	UBERON:0001264	80.53	gold quality
tendon of biceps brachii	UBERON:0008188	80.47	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.44	gold quality
right coronary artery	UBERON:0001625	80.40	gold quality
islet of Langerhans	UBERON:0000006	80.30	gold quality
small intestine Peyer’s patch	UBERON:0003454	80.20	gold quality
corpus callosum	UBERON:0002336	80.15	gold quality
buccal mucosa cell	CL:0002336	80.05	gold quality
mucosa of stomach	UBERON:0001199	80.05	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.57

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

7 targets.

Target	Regulation
ACTB	Repression
FHL2	Activation
MYC	Repression
RPL32
SLC6A3	Repression
TESC	Activation
ZBTB14

JASPAR motifs

Motif	Name	Family
MA1650.1	ZBTB14	More than 3 adjacent zinc fingers
MA1650.2	ZBTB14	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:19443739

Upstream regulators (CollecTRI, top): SP1, ZBTB14

miRNA regulators (miRDB)

123 targeting ZBTB14, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3692-3P	99.98	70.27	2139
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-8068	99.98	73.85	2376
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-128-3P	99.95	71.17	2484

Literature-anchored findings (GeneRIF, showing 6)

• transfection of ZFP161 induced dopamine transporter mRNA expression (PMID:14706637)
• ZNF295 may be involved in the bi-directional control of gene expression in concert with ZFP161 (PMID:15629158)
• GCC-elements are a novel class of ZF5 targets in 5’-regulatory regions of mammalian genes (PMID:16805315)
• data identify a new class of ZF5 targets, a subset of genes containing GCC-elements in their regulatory regions (PMID:17714511)
• ZF5 downregulated the activity of 5’-regulatory region of FMR1 gene (acting probably through canonic 5’-GCGCGC3’ sites). (PMID:20141036)
• ZFP161 acts as a scaffolding protein to facilitate the interaction between RPA and ATR/ATRIP. ZFP161 binds to RPA and ATR/ATRIP through distinct regions and stabilizes the RPA-ATR-ATRIP complex at stalled replication forks. This function of ZFP161 is important to the ATR signaling cascade and genome stability maintenance. (PMID:31757956)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	zbtb14	ENSDARG00000098273
danio_rerio	zbtb38	ENSDARG00000100607
mus_musculus	Zbtb14	ENSMUSG00000049672
rattus_norvegicus	Zbtb14	ENSRNOG00000016719

Paralogs (28): ZNF280C (ENSG00000056277), ZBTB25 (ENSG00000089775), PRDM13 (ENSG00000112238), BCL6 (ENSG00000113916), FEZF1 (ENSG00000128610), ZBTB46 (ENSG00000130584), PRDM12 (ENSG00000130711), ZNF280D (ENSG00000137871), NACC2 (ENSG00000148411), FEZF2 (ENSG00000153266), ZBTB7B (ENSG00000160685), NACC1 (ENSG00000160877), BCL6B (ENSG00000161940), GFI1 (ENSG00000162676), GFI1B (ENSG00000165702), ZBTB49 (ENSG00000168826), ZNF280A (ENSG00000169548), ZNF581 (ENSG00000171425), ZNF524 (ENSG00000171443), ZBTB26 (ENSG00000171448), ZBTB21 (ENSG00000173276), ZNF683 (ENSG00000176083), ZBTB33 (ENSG00000177485), ZBTB3 (ENSG00000185670), ZBTB6 (ENSG00000186130), ZBTB12 (ENSG00000204366), ZNF580 (ENSG00000213015), ZNF280B (ENSG00000275004)

Protein

Protein identifiers

Zinc finger and BTB domain-containing protein 14 — O43829 (reviewed: O43829)

Alternative names: Zinc finger protein 161 homolog, Zinc finger protein 478, Zinc finger protein 5 homolog

All UniProt accessions (4): O43829, J3KRQ2, J3QL74, J3QLI2

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional activator of the dopamine transporter (DAT), binding its promoter at the consensus sequence 5’-CCTGCACAGTTCACGGA-3’. Binds to 5’-d(GCC)(n)-3’ trinucleotide repeats in promoter regions and acts as a repressor of the FMR1 gene. Transcriptional repressor of MYC and thymidine kinase promoters.

Subunit / interactions. Interacts with ZBTB21.

Subcellular location. Nucleus.

Domain organisation. The BTB/POZ domain seems to direct the protein to discrete regions in the nucleus.

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

RefSeq proteins (4): NP_001137295, NP_001230631, NP_001230633, NP_003400 (=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
IPR050457	ZnFinger_BTB_dom_contain	Family

Pfam: PF00096, PF00651

UniProt features (17 total): zinc finger region 5, cross-link 3, sequence variant 2, sequence conflict 2, chain 1, domain 1, region of interest 1, short sequence motif 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43829-F1	51.95	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 (3): 46, 203, 249

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 220 (showing top): GOBP_CARDIAC_CHAMBER_DEVELOPMENT, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, FLECHNER_PBL_KIDNEY_TRANSPLANT_REJECTED_VS_OK_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_CARDIAC_SEPTUM_DEVELOPMENT, GOBP_CORONARY_VASCULATURE_DEVELOPMENT, MORF_MSH3, FISCHER_G1_S_CELL_CYCLE, MORF_BRCA1, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, MORF_RAD51L3, JAZAG_TGFB1_SIGNALING_DN, MORF_CTSB, GROSS_HYPOXIA_VIA_ELK3_UP

GO Biological Process (8): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of cytokine production (GO:0001817), kidney development (GO:0001822), regulation of immune system process (GO:0002682), heart valve development (GO:0003170), cardiac septum development (GO:0003279), negative regulation of DNA-templated transcription (GO:0045892), coronary vasculature development (GO:0060976)

GO Molecular Function (10): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), sequence-specific DNA binding (GO:0043565), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), aggresome (GO:0016235)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
heart development	2
anatomical structure development	2
regulation of DNA-templated transcription	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
nuclear lumen	2
cellular anatomical structure	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
animal organ development	1
renal system development	1
immune system process	1
regulation of biological process	1
cardiac chamber development	1
DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
blood vessel development	1
transcription regulatory region nucleic acid binding	1
sequence-specific double-stranded DNA binding	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
transcription cis-regulatory region binding	1
transcription regulator activity	1
transition metal ion binding	1
DNA binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
cytoplasm	1
inclusion body	1

Protein interactions and networks

STRING

1074 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZBTB14	ADNP	Q9H2P0	777
ZBTB14	ZNF587	Q96SQ5	589
ZBTB14	E2F1	Q01094	557
ZBTB14	HNF1A	P20823	547
ZBTB14	MYC	P01106	544
ZBTB14	KAT5	Q92993	513
ZBTB14	POU5F1	P31359	479
ZBTB14	CLUL1	Q15846	477
ZBTB14	PAX6	P26367	465
ZBTB14	HNF4A	P41235	456
ZBTB14	AKAIN1	P0CW23	438
ZBTB14	CBX5	P45973	430
ZBTB14	GLRX	P35754	424
ZBTB14	NCOA4	Q13772	422
ZBTB14	PPP4R1	Q8TF05	420

IntAct

241 interactions, top by confidence:

A	B	Type	Score
ZBTB14	SNRPB2	psi-mi:“MI:0915”(physical association)	0.720
ZBTB14	NAA10	psi-mi:“MI:0915”(physical association)	0.720
BYSL	ZBTB14	psi-mi:“MI:0915”(physical association)	0.720
ZBTB14	BYSL	psi-mi:“MI:0915”(physical association)	0.720
ZBTB14	MAD2L1BP	psi-mi:“MI:0915”(physical association)	0.720
ZBTB14	EPM2AIP1	psi-mi:“MI:0915”(physical association)	0.720
CEP19	ZBTB14	psi-mi:“MI:0915”(physical association)	0.720
ZBTB14	PNKP	psi-mi:“MI:0915”(physical association)	0.720
ZBTB14	AP1M1	psi-mi:“MI:0915”(physical association)	0.720
ZBTB14	CBX8	psi-mi:“MI:0915”(physical association)	0.720
SNRPB2	ZBTB14	psi-mi:“MI:0915”(physical association)	0.720
NAA10	ZBTB14	psi-mi:“MI:0915”(physical association)	0.720
EPM2AIP1	ZBTB14	psi-mi:“MI:0915”(physical association)	0.720
ZBTB14	CEP19	psi-mi:“MI:0915”(physical association)	0.720
PNKP	ZBTB14	psi-mi:“MI:0915”(physical association)	0.720
AP1M1	ZBTB14	psi-mi:“MI:0915”(physical association)	0.720
MAD2L1BP	ZBTB14	psi-mi:“MI:0915”(physical association)	0.720
CBX8	ZBTB14	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (110): ZBTB14 (Two-hybrid), ZBTB14 (Two-hybrid), ZBTB14 (Two-hybrid), ZBTB14 (Two-hybrid), ZBTB14 (Two-hybrid), ZBTB14 (Two-hybrid), ZBTB14 (Two-hybrid), ZBTB14 (Two-hybrid), ZBTB14 (Two-hybrid), ZBTB14 (Two-hybrid), NAA10 (Two-hybrid), AP1M1 (Two-hybrid), MAD2L1BP (Two-hybrid), MORF4L2 (Two-hybrid), EPM2AIP1 (Two-hybrid)

ESM2 similar proteins: A1L1J6, A2ANX9, A7Y7X5, E9Q8T2, G5E8B9, O15060, O43167, O43829, O62836, O95625, P08048, P0C6P6, P10925, P17010, P17012, P20662, P52739, Q01611, Q08376, Q0VCB0, Q2FAY8, Q3TTC2, Q4V8R6, Q52V16, Q5DU09, Q5PPG4, Q5R5M1, Q5R5N5, Q5RAU9, Q5SVQ8, Q6B4Z5, Q6GNP2, Q6INV8, Q7TS63, Q7ZVR6, Q80V63, Q80X44, Q811F1, Q8K3J5, Q92010

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

3 interactions.

A	Effect	B	Mechanism
ZBTB14	“up-regulates activity”	ZBTB14	binding
ZBTB14	“down-regulates quantity by repression”	MYC	“transcriptional regulation”
NACC1	“up-regulates activity”	ZBTB14	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 66 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
nucleotide-excision repair	5	33.0×	2e-04
double-strand break repair via homologous recombination	5	13.4×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	36
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2685058	GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4	Pathogenic

SpliceAI

479 predictions. Top by Δscore:

Variant	Effect	Δscore
18:5292200:AACTC:A	acceptor_gain	1.0000
18:5292202:CTC:C	acceptor_gain	1.0000
18:5292203:TC:T	acceptor_gain	1.0000
18:5292204:CC:C	acceptor_gain	1.0000
18:5292205:C:CC	acceptor_gain	1.0000
18:5293265:T:C	donor_gain	1.0000
18:5293269:AATG:A	donor_gain	1.0000
18:5294861:T:TA	donor_gain	1.0000
18:5292201:ACTCC:A	acceptor_gain	0.9900
18:5292202:CTCCT:C	acceptor_gain	0.9900
18:5292206:T:G	acceptor_loss	0.9900
18:5292208:C:CT	acceptor_gain	0.9900
18:5293327:CCTA:C	acceptor_loss	0.9900
18:5293328:C:A	acceptor_loss	0.9900
18:5293329:T:G	acceptor_loss	0.9900
18:5294799:A:AC	donor_gain	0.9900
18:5294800:C:CC	donor_gain	0.9900
18:5295808:CTTA:C	donor_loss	0.9900
18:5295809:TTA:T	donor_loss	0.9900
18:5292209:A:T	acceptor_gain	0.9800
18:5293239:GTTA:G	donor_loss	0.9800
18:5293240:TTA:T	donor_loss	0.9800
18:5293241:TA:T	donor_loss	0.9800
18:5293242:ACC:A	donor_loss	0.9800
18:5293269:AATGC:A	donor_gain	0.9800
18:5295057:T:A	donor_gain	0.9800
18:5295058:C:A	donor_gain	0.9800
18:5295807:GCTTA:G	donor_loss	0.9800
18:5292205:C:T	acceptor_gain	0.9700
18:5293238:AGTT:A	donor_loss	0.9700

AlphaMissense

3035 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:5290987:G:C	H407Q	1.000
18:5290987:G:T	H407Q	1.000
18:5290989:G:C	H407D	1.000
18:5290989:G:T	H407N	1.000
18:5290997:A:G	L404P	1.000
18:5291014:A:C	F398L	1.000
18:5291014:A:T	F398L	1.000
18:5291015:A:G	F398S	1.000
18:5291016:A:G	F398L	1.000
18:5291028:A:G	C394R	1.000
18:5291037:A:G	C391R	1.000
18:5291041:A:C	F389L	1.000
18:5291041:A:T	F389L	1.000
18:5291043:A:G	F389L	1.000
18:5291071:A:C	H379Q	1.000
18:5291071:A:T	H379Q	1.000
18:5291073:G:C	H379D	1.000
18:5291073:G:T	H379N	1.000
18:5291081:A:G	L376P	1.000
18:5291098:G:C	F370L	1.000
18:5291098:G:T	F370L	1.000
18:5291099:A:G	F370S	1.000
18:5291100:A:G	F370L	1.000
18:5291100:A:T	F370I	1.000
18:5291112:A:G	C366R	1.000
18:5291121:A:G	C363R	1.000
18:5291125:A:C	F361L	1.000
18:5291125:A:T	F361L	1.000
18:5291127:A:G	F361L	1.000
18:5291143:G:C	H355Q	1.000

dbSNP variants (sampled 300 via entrez): RS1000031282 (18:5293052 T>C), RS1000035957 (18:5289090 A>T), RS1000090282 (18:5295034 G>A), RS1000513287 (18:5288812 T>C), RS1000751493 (18:5297529 A>G), RS1000835166 (18:5295496 G>A,C), RS1001095095 (18:5295657 C>T), RS1001602870 (18:5297566 C>G,T), RS1001699102 (18:5291433 C>G,T), RS1001845348 (18:5296215 C>G,T), RS1002049641 (18:5296897 C>T), RS1002052799 (18:5292653 AC>A), RS1002107306 (18:5296264 C>A,G,T), RS1002119016 (18:5297836 T>G), RS1002149182 (18:5290291 G>A,T)

Disease associations

OMIM: gene MIM:602126 | 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
GCST003073_8	Cerebral amyloid deposition (PET imaging)	3.000000e-07
GCST90014122_5	Lacunar stroke	1.000000e-06
GCST90014123_5	Lacunar stroke	2.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007707	cerebral amyloid deposition measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5069377 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, decreases methylation	4
Vehicle Emissions	increases expression, increases abundance	2
Quercetin	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	decreases sumoylation	1
triphenyl phosphate	affects expression	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
trichostatin A	affects expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
ferrous chloride	decreases expression	1
abrine	decreases expression	1
Irinotecan	decreases expression	1
Air Pollutants, Occupational	affects expression, increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Demecolcine	decreases expression	1
Formaldehyde	decreases expression	1
Hydrogen Peroxide	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Vincristine	decreases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	increases methylation	1
Particulate Matter	increases abundance, increases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5059510	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.