ZZZ3

Summary

ZZZ3 (zinc finger ZZ-type containing 3, HGNC:24523) is a protein-coding gene on chromosome 1p31.1, encoding ZZ-type zinc finger-containing protein 3 (Q8IYH5). Histone H3 reader that is required for the ATAC complex-mediated maintenance of histone acetylation and gene activation. It is a selective cancer dependency (DepMap: 13.7% of cell lines).

Enables histone reader activity; lysine-acetylated histone binding activity; and methylated histone binding activity. Involved in several processes, including chromatin organization; regulation of cell division; and regulation of transcription by RNA polymerase II. Located in nucleolus and nucleoplasm. Part of ATAC complex.

Source: NCBI Gene 26009 — RefSeq curated summary.

At a glance

• GWAS associations: 20
• Clinical variants (ClinVar): 139 total
• Cancer dependency (DepMap): dependent in 13.7% of screened cell lines
• MANE Select transcript: NM_015534

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24523
Approved symbol	ZZZ3
Name	zinc finger ZZ-type containing 3
Location	1p31.1
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP564I052, ATAC1
Ensembl gene	ENSG00000036549
Ensembl biotype	protein_coding
OMIM	619892
Entrez	26009

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 20 protein_coding, 7 protein_coding_CDS_not_defined

ENST00000370798, ENST00000370801, ENST00000414381, ENST00000433749, ENST00000458763, ENST00000463166, ENST00000469944, ENST00000474746, ENST00000476195, ENST00000476275, ENST00000481346, ENST00000880776, ENST00000880777, ENST00000880778, ENST00000880779, ENST00000880780, ENST00000880781, ENST00000880782, ENST00000880783, ENST00000880784, ENST00000880785, ENST00000933606, ENST00000961211, ENST00000961212, ENST00000961213, ENST00000961214, ENST00000961215

RefSeq mRNA: 11 — MANE Select: NM_015534 NM_001308237, NM_001376146, NM_001376147, NM_001376148, NM_001376149, NM_001376151, NM_001376153, NM_001376154, NM_001376155, NM_001376156, NM_015534

CCDS: CCDS677, CCDS76172

Canonical transcript exons

ENST00000370801 — 15 exons

Exon	Start	End
ENSE00001372837	77641384	77641446
ENSE00001374496	77682585	77682658
ENSE00001381493	77641522	77641655
ENSE00001453662	77631850	77633405
ENSE00001859472	77562416	77565784
ENSE00003495024	77566081	77566181
ENSE00003509063	77576068	77576220
ENSE00003519504	77584517	77584655
ENSE00003531720	77580998	77581069
ENSE00003532550	77639449	77639602
ENSE00003569173	77578774	77578869
ENSE00003603857	77581776	77581891
ENSE00003621900	77579527	77579628
ENSE00003647563	77568332	77568466
ENSE00003678272	77581979	77582126

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 94.06.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.1101 / max 335.4985, expressed in 1814 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
12892	17.8915	1801
12891	8.9548	1698
12881	0.5177	84
12894	0.5137	279
12893	0.2324	118

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	94.06	gold quality
adrenal tissue	UBERON:0018303	93.36	gold quality
ventricular zone	UBERON:0003053	92.95	gold quality
germinal epithelium of ovary	UBERON:0001304	92.50	gold quality
colonic epithelium	UBERON:0000397	91.48	gold quality
tibia	UBERON:0000979	91.22	gold quality
amniotic fluid	UBERON:0000173	90.15	gold quality
islet of Langerhans	UBERON:0000006	89.92	gold quality
tendon	UBERON:0000043	89.82	gold quality
hair follicle	UBERON:0002073	88.94	silver quality
corpus callosum	UBERON:0002336	88.82	gold quality
parietal pleura	UBERON:0002400	88.78	gold quality
ganglionic eminence	UBERON:0004023	88.41	gold quality
pleura	UBERON:0000977	88.28	gold quality
cortical plate	UBERON:0005343	87.98	gold quality
secondary oocyte	CL:0000655	87.89	gold quality
embryo	UBERON:0000922	87.57	gold quality
stromal cell of endometrium	CL:0002255	87.47	gold quality
visceral pleura	UBERON:0002401	87.39	gold quality
palpebral conjunctiva	UBERON:0001812	87.30	gold quality
pancreas	UBERON:0001264	86.89	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.58	gold quality
tonsil	UBERON:0002372	86.25	gold quality
endometrium	UBERON:0001295	86.13	gold quality
tibial nerve	UBERON:0001323	86.09	gold quality
tibialis anterior	UBERON:0001385	86.07	silver quality
esophagus squamous epithelium	UBERON:0006920	85.98	gold quality
mucosa of stomach	UBERON:0001199	85.93	gold quality
thoracic mammary gland	UBERON:0005200	85.82	gold quality
mammary gland	UBERON:0001911	85.76	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.03

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

198 targeting ZZZ3, 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-1277-5P	100.00	73.95	5056
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-96-5P	99.95	72.80	2140

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 13.7% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• Study identifies the ZZ domain of ZZZ3 as a histone H3 reader that is required for the ATAC complex-mediated maintenance of histone acetylation and gene activation. (PMID:30217978)
• Unraveling the impact of ZZZ3 on the mTOR/ribosome pathway in human embryonic stem cells homeostasis. (PMID:38701777)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	zzz3	ENSDARG00000077581
mus_musculus	Zzz3	ENSMUSG00000039068
rattus_norvegicus	Zzz3	ENSRNOG00000050321
drosophila_melanogaster	Atac1	FBGN0031876

Protein

Protein identifiers

ZZ-type zinc finger-containing protein 3 — Q8IYH5 (reviewed: Q8IYH5)

All UniProt accessions (3): C9J283, C9JUA4, Q8IYH5

UniProt curated annotations — full annotation on UniProt →

Function. Histone H3 reader that is required for the ATAC complex-mediated maintenance of histone acetylation and gene activation. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4.

Subunit / interactions. Component of the ADA2A-containing complex (ATAC), composed of KAT14, KAT2A, TADA2L, TADA3L, ZZ3, MBIP, WDR5, YEATS2, CCDC101 and DR1. Interacts via (ZZ-type zinc finger) with histone H3 in a methylation-independent manner and acetylation on ‘Lys-4’ (H3K4ac) moderately enhances the interaction.

Subcellular location. Nucleus.

Isoforms (4)

UniProt ID	Names	Canonical?
Q8IYH5-1	1	yes
Q8IYH5-2	2
Q8IYH5-3	3
Q8IYH5-4	4

RefSeq proteins (11): NP_001295166, NP_001363075, NP_001363076, NP_001363077, NP_001363078, NP_001363080, NP_001363082, NP_001363083, NP_001363084, NP_001363085, NP_056349* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000433	Znf_ZZ	Domain
IPR001005	SANT/Myb	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017930	Myb_dom	Domain
IPR037830	ZZZ3	Family
IPR041981	ZZZ3_ZZ	Domain
IPR043145	Znf_ZZ_sf	Homologous_superfamily

Pfam: PF00249, PF00569

UniProt features (66 total): strand 10, modified residue 9, compositionally biased region 8, binding site 8, sequence conflict 6, splice variant 5, helix 5, region of interest 4, cross-link 3, mutagenesis site 3, chain 1, domain 1, DNA-binding region 1, zinc finger region 1, sequence variant 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
2FC7	SOLUTION NMR
2YUM	SOLUTION NMR
6E83	SOLUTION NMR
6E86	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IYH5-F1	54.19	0.06

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 (8): 823; 826; 838; 841; 850; 853; 863; 867

Post-translational modifications (12): 82, 89, 113, 130, 131, 135, 394, 606, 701, 276, 647, 708

Mutagenesis-validated functional residues (3):

Position	Phenotype
821	reduced histone h3 binding. significant reduction in the acetyltransferase activity of the atac complex on histone h3 bu
824	loss of histone h3 binding. significant reduction in the acetyltransferase activity of the atac complex on histone h3 bu
848	loss of histone h3 binding.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-3214847	HATs acetylate histones
R-HSA-9772755	Formation of WDR5-containing histone-modifying complexes

MSigDB gene sets: 287 (showing top): MORF_MTA1, TTTGTAG_MIR520D, GOBP_REGULATION_OF_PROTEIN_DEACETYLATION, GOBP_MACROMOLECULE_DEACYLATION, MORF_RAD21, MORF_HDAC2, MORF_PSMC2, MORF_RAF1, YY1_02, GOBP_REGULATION_OF_CELL_CYCLE, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, GOBP_REGULATION_OF_CELL_DIVISION, ATTCTTT_MIR186, HIF1_Q3, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP

GO Biological Process (6): chromatin organization (GO:0006325), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), regulation of embryonic development (GO:0045995), regulation of cell division (GO:0051302), regulation of cell cycle (GO:0051726)

GO Molecular Function (5): DNA binding (GO:0003677), zinc ion binding (GO:0008270), histone binding (GO:0042393), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (5): nucleoplasm (GO:0005654), nucleolus (GO:0005730), mitotic spindle (GO:0072686), ATAC complex (GO:0140672), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Chromatin modifying enzymes	1
Epigenetic regulation by WDR5-containing histone modifying complexes	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of cellular process	2
nuclear lumen	2
cellular component organization	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
embryo development	1
regulation of multicellular organismal development	1
cell division	1
cell cycle	1
nucleic acid binding	1
transition metal ion binding	1
protein binding	1
binding	1
cation binding	1
cellular anatomical structure	1
intracellular membraneless organelle	1
spindle	1
SAGA-type complex	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

2496 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZZZ3	KAT14	Q9H8E8	898
ZZZ3	MBIP	Q9NS73	758
ZZZ3	TADA2A	O75478	743
ZZZ3	YEATS2	Q9ULM3	738
ZZZ3	TADA3	O75528	715
ZZZ3	SGF29	Q96ES7	709
ZZZ3	KAT2A	Q92830	693
ZZZ3	DR1	Q01658	686
ZZZ3	KAT2B	Q92831	667
ZZZ3	SUPT7L	O94864	655
ZZZ3	TADA2B	Q86TJ2	648
ZZZ3	SIX5	Q8N196	614
ZZZ3	MXI1	P50539	551
ZZZ3	TAF5	Q15542	530
ZZZ3	WDR5	P61964	516

IntAct

128 interactions, top by confidence:

A	B	Type	Score
PSMC3	PSMD9	psi-mi:“MI:0914”(association)	0.940
WDR5	KMT2D	psi-mi:“MI:0914”(association)	0.910
CDK8	MED19	psi-mi:“MI:2364”(proximity)	0.850
SGF29	NDC80	psi-mi:“MI:0914”(association)	0.840
ZZZ3	WDR5	psi-mi:“MI:0915”(physical association)	0.770
TADA3	TADA2A	psi-mi:“MI:0914”(association)	0.740
PFDN4	PFDN6	psi-mi:“MI:0914”(association)	0.730
WDR5	MEN1	psi-mi:“MI:0914”(association)	0.710
HSPB2	BAG3	psi-mi:“MI:0914”(association)	0.670
PSMC3	PSMD12	psi-mi:“MI:0914”(association)	0.640
Hoxa1	ZZZ3	psi-mi:“MI:0915”(physical association)	0.570
ZZZ3	Hoxa1	psi-mi:“MI:0915”(physical association)	0.570
FAM124A	ZZZ3	psi-mi:“MI:0915”(physical association)	0.560
ZZZ3	FAM124A	psi-mi:“MI:0915”(physical association)	0.560
EFHC2	ZZZ3	psi-mi:“MI:0915”(physical association)	0.560
ZZZ3	PICK1	psi-mi:“MI:0915”(physical association)	0.560
TRAF2	ZZZ3	psi-mi:“MI:0915”(physical association)	0.560
ZZZ3	CARD9	psi-mi:“MI:0915”(physical association)	0.560
GOLGA2	ZZZ3	psi-mi:“MI:0915”(physical association)	0.560
ZZZ3	PPP1R13B	psi-mi:“MI:0915”(physical association)	0.560
MAGEA10	POTEF	psi-mi:“MI:0914”(association)	0.530
FHL2	CNOT1	psi-mi:“MI:0914”(association)	0.530
BCAT1	ARNT	psi-mi:“MI:0914”(association)	0.530
MBIP	TADA2A	psi-mi:“MI:0914”(association)	0.530
POLE4	POLE	psi-mi:“MI:0914”(association)	0.530

BioGRID (205): FAM124A (Two-hybrid), ZZZ3 (Affinity Capture-MS), ZZZ3 (Affinity Capture-MS), ZZZ3 (Affinity Capture-MS), ZZZ3 (Affinity Capture-MS), ZZZ3 (Affinity Capture-MS), ZZZ3 (Affinity Capture-MS), ZZZ3 (Affinity Capture-MS), ZZZ3 (Affinity Capture-MS), ZZZ3 (Affinity Capture-MS), ZZZ3 (Affinity Capture-MS), ZZZ3 (PCA), Hoxa1 (Affinity Capture-Western), ZZZ3 (Affinity Capture-MS), ZZZ3 (Affinity Capture-MS)

ESM2 similar proteins: A0A3Q2UEI8, A0JNH9, A2BIL8, A8PUI7, B1H1S4, B2GUZ2, E7FAP1, E9Q309, F1R983, O60284, P49452, P51960, P86345, Q0P5H2, Q3T0A6, Q3T8J9, Q4KLP8, Q4QY64, Q4R731, Q535K8, Q563C3, Q58EL7, Q5FBB7, Q5QJE6, Q5VT06, Q5XG21, Q65Z40, Q6KAQ7, Q6NWJ0, Q6P0N0, Q6P6I6, Q76FK4, Q7YQM1, Q7YQM2, Q80WQ8, Q8C263, Q8C551, Q8IYH5, Q8NA57, Q8R2M2

Diamond homologs: Q54PP6, Q6KAQ7, Q8IYH5, Q8LBL5, B8B5U8, F4I443, O95714, Q02084, Q03605, Q1ACD6, Q1ACD7, Q1L5Z9, Q2YEM8, Q3ZEE5, Q4U2R1, Q587N7, Q5A1M4, Q5BN31, Q5C8U3, Q5D7I0, Q5D7I2, Q5D7I6, Q5PQN2, Q640S6, Q6PGR9, Q6R567, Q7XI73, Q804S5, Q86XT4, Q8BGE7, Q8R079, Q8R0K2, Q99PQ1, Q9D9R0, Q9NZS9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 134 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
Formation of WDR5-containing histone-modifying complexes	11	31.1×	2e-11
Epigenetic regulation by WDR5-containing histone modifying complexes	10	16.4×	1e-07
NOTCH1 Intracellular Domain Regulates Transcription	5	12.7×	3e-03
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	7	10.9×	3e-04
Proteasome assembly	5	10.8×	4e-03
Constitutive Signaling by NOTCH1 PEST Domain Mutants	5	10.5×	4e-03
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants	5	10.5×	4e-03
Epigenetic regulation of gene expression	12	9.1×	1e-06

GO biological processes:

GO term	Partners	Fold	FDR
regulation of cell division	8	48.6×	1e-09
regulation of embryonic development	10	26.2×	1e-09
regulation of DNA repair	6	13.2×	6e-04
regulation of cell cycle	13	7.7×	2e-06
regulation of protein stability	7	7.0×	5e-03
transcription by RNA polymerase II	10	5.6×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	106
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

2955 predictions. Top by Δscore:

Variant	Effect	Δscore
1:77565780:GTAGA:G	acceptor_gain	1.0000
1:77565785:C:CC	acceptor_gain	1.0000
1:77566074:CACTT:C	donor_loss	1.0000
1:77566075:ACTTA:A	donor_loss	1.0000
1:77566076:CTTAC:C	donor_loss	1.0000
1:77566077:TTAC:T	donor_loss	1.0000
1:77566078:T:TG	donor_loss	1.0000
1:77566079:A:AG	donor_loss	1.0000
1:77566080:CCAGT:C	donor_gain	1.0000
1:77566177:TCACA:T	acceptor_gain	1.0000
1:77566178:CACA:C	acceptor_gain	1.0000
1:77566178:CACAC:C	acceptor_gain	1.0000
1:77566179:ACA:A	acceptor_gain	1.0000
1:77566179:ACAC:A	acceptor_loss	1.0000
1:77566180:CA:C	acceptor_gain	1.0000
1:77566180:CAC:C	acceptor_gain	1.0000
1:77566181:ACTAT:A	acceptor_loss	1.0000
1:77566182:C:CC	acceptor_gain	1.0000
1:77566182:CTAT:C	acceptor_loss	1.0000
1:77568327:CTTA:C	donor_loss	1.0000
1:77568328:TTAC:T	donor_loss	1.0000
1:77568330:A:AC	donor_gain	1.0000
1:77568330:A:AT	donor_loss	1.0000
1:77568330:AC:A	donor_gain	1.0000
1:77568331:C:CG	donor_gain	1.0000
1:77568331:CC:C	donor_gain	1.0000
1:77568462:TCATC:T	acceptor_gain	1.0000
1:77568463:CATC:C	acceptor_gain	1.0000
1:77568463:CATCC:C	acceptor_gain	1.0000
1:77568464:ATC:A	acceptor_gain	1.0000

AlphaMissense

5976 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:77566181:A:G	C823R	1.000
1:77578804:T:A	R716S	1.000
1:77578804:T:G	R716S	1.000
1:77578808:C:T	G715D	1.000
1:77578809:C:G	G715R	1.000
1:77578814:A:T	V713E	1.000
1:77578827:C:G	A709P	1.000
1:77578835:A:G	L706P	1.000
1:77578837:C:A	K705N	1.000
1:77578837:C:G	K705N	1.000
1:77578839:T:C	K705E	1.000
1:77578843:G:C	F703L	1.000
1:77578843:G:T	F703L	1.000
1:77578845:A:G	F703L	1.000
1:77578848:A:C	Y702D	1.000
1:77578848:A:G	Y702H	1.000
1:77578849:C:A	K701N	1.000
1:77578849:C:G	K701N	1.000
1:77578851:T:C	K701E	1.000
1:77578851:T:G	K701Q	1.000
1:77578852:C:A	Q700H	1.000
1:77578852:C:G	Q700H	1.000
1:77578859:C:G	R698P	1.000
1:77578860:G:C	R698G	1.000
1:77578861:G:C	S697R	1.000
1:77578861:G:T	S697R	1.000
1:77578863:T:G	S697R	1.000
1:77578865:G:T	A696D	1.000
1:77578868:A:T	V695D	1.000
1:77579539:C:A	R690S	1.000

dbSNP variants (sampled 300 via entrez): RS1000002490 (1:77595624 T>C), RS1000009242 (1:77584181 C>T), RS1000037638 (1:77682935 A>G), RS1000052235 (1:77619577 C>A), RS1000128976 (1:77563211 G>A), RS1000176486 (1:77615999 A>G), RS1000185267 (1:77660743 A>G), RS1000207930 (1:77649866 T>A,C), RS1000213919 (1:77580703 C>A), RS1000238928 (1:77569044 T>G), RS1000259571 (1:77575219 G>A), RS1000266181 (1:77562863 G>A), RS1000268086 (1:77680763 CT>C), RS1000268854 (1:77571001 G>C,T), RS1000291246 (1:77662067 A>G)

Disease associations

OMIM: gene MIM:619892 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

20 associations (top):

Study	Trait	p-value
GCST001953_38	Obesity	3.000000e-08
GCST004066_103	Hip circumference	6.000000e-08
GCST004066_62	Hip circumference	1.000000e-09
GCST004125_10	Type 2 diabetes (age of onset)	8.000000e-06
GCST004557_147	Body mass index	4.000000e-09
GCST004557_253	Body mass index	3.000000e-08
GCST004557_5	Body mass index	1.000000e-08
GCST004557_74	Body mass index	3.000000e-08
GCST004558_116	Body mass index (joint analysis main effects and physical activity interaction)	1.000000e-08
GCST004558_189	Body mass index (joint analysis main effects and physical activity interaction)	2.000000e-07
GCST004558_200	Body mass index (joint analysis main effects and physical activity interaction)	4.000000e-07
GCST004558_47	Body mass index (joint analysis main effects and physical activity interaction)	2.000000e-07
GCST004559_144	Body mass index in physically active individuals	2.000000e-07
GCST004559_64	Body mass index in physically active individuals	2.000000e-07
GCST004744_79	Lung adenocarcinoma	2.000000e-06
GCST004748_64	Lung cancer	7.000000e-07
GCST008839_136	Height	2.000000e-16
GCST90002402_554	Platelet count	1.000000e-10
GCST90020024_14	A body shape index	4.000000e-09
GCST90020025_249	Waist-to-hip ratio adjusted for BMI	3.000000e-08

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0008002	physical activity measurement
EFO:0004309	platelet count
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, decreases methylation	4
Air Pollutants	decreases expression, increases abundance	2
Cyclosporine	increases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
dicrotophos	decreases expression	1
bisphenol A	increases methylation	1
geraniol	increases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	decreases expression	1
ochratoxin A	decreases acetylation, decreases expression	1
benzo(e)pyrene	increases methylation	1
coumarin	decreases phosphorylation	1
CGP 52608	affects binding, increases reaction	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	increases expression	1
Benzo(a)pyrene	affects methylation	1
Doxorubicin	affects expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Methapyrilene	increases methylation	1
Phenobarbital	affects expression	1
Smoke	decreases expression, increases abundance	1
Tetrachlorodibenzodioxin	affects cotreatment, decreases expression	1
Tretinoin	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Asbestos, Amosite	increases methylation	1
Sodium Selenite	increases expression	1

Clinical trials (associated diseases)

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