ZNF365

Summary

ZNF365 (zinc finger protein 365, HGNC:18194) is a protein-coding gene on chromosome 10q21.2, encoding Talanin (Q70YC4). May play a role in uric acid excretion.

This gene encodes a zinc finger protein that may play a role in the repair of DNA damage and maintenance of genome stability. The N-terminal C2H2 zinc finger motif is required to form a protein complex with PARP1 and MRE11, which are known to be involved in the restart of stalled DNA replication forks. A mutation in this gene may be associated with breast cancer susceptibility.

Source: NCBI Gene 22891 — RefSeq curated summary.

At a glance

• GWAS associations: 76
• Clinical variants (ClinVar): 69 total
• Phenotypes (HPO): 32
• MANE Select transcript: NM_014951

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18194
Approved symbol	ZNF365
Name	zinc finger protein 365
Location	10q21.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0844, UAN, Su48
Ensembl gene	ENSG00000138311
Ensembl biotype	protein_coding
OMIM	607818
Entrez	22891

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000395254, ENST00000395255, ENST00000421210, ENST00000466727, ENST00000888690

RefSeq mRNA: 2 — MANE Select: NM_014951 NM_014951, NM_199450

CCDS: CCDS31209, CCDS41531

Canonical transcript exons

ENST00000395254 — 5 exons

Exon	Start	End
ENSE00001312443	62376181	62376936
ENSE00003531140	62398740	62398777
ENSE00003601362	62388396	62388576
ENSE00003680962	62399528	62402450
ENSE00003843025	62374369	62374458

Expression profiles

Bgee: expression breadth ubiquitous, 206 present calls, max score 99.18.

FANTOM5 (CAGE): breadth broad, TPM avg 6.8600 / max 652.4900, expressed in 822 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
105119	3.1749	478
105111	1.6247	150
105118	0.6878	258
105115	0.5227	113
105116	0.4117	122
105117	0.2528	102
105120	0.0698	24
105114	0.0435	21
205878	0.0373	18
105121	0.0230	14

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	99.18	gold quality
lateral nuclear group of thalamus	UBERON:0002736	98.49	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.20	gold quality
postcentral gyrus	UBERON:0002581	97.96	gold quality
parietal lobe	UBERON:0001872	97.73	gold quality
superior frontal gyrus	UBERON:0002661	97.64	gold quality
Brodmann (1909) area 46	UBERON:0006483	97.64	gold quality
Brodmann (1909) area 10	UBERON:0013541	97.28	gold quality
orbitofrontal cortex	UBERON:0004167	97.20	gold quality
frontal pole	UBERON:0002795	97.07	gold quality
occipital lobe	UBERON:0002021	96.96	gold quality
primary visual cortex	UBERON:0002436	96.92	gold quality
endothelial cell	CL:0000115	96.31	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.74	gold quality
prefrontal cortex	UBERON:0000451	95.29	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.21	gold quality
entorhinal cortex	UBERON:0002728	95.13	gold quality
frontal cortex	UBERON:0001870	94.64	gold quality
CA1 field of hippocampus	UBERON:0003881	94.27	gold quality
cerebellar vermis	UBERON:0004720	94.24	gold quality
dorsal plus ventral thalamus	UBERON:0001897	94.21	gold quality
lateral globus pallidus	UBERON:0002476	93.83	gold quality
neocortex	UBERON:0001950	93.36	gold quality
corpus callosum	UBERON:0002336	93.04	gold quality
cerebral cortex	UBERON:0000956	92.93	gold quality
inferior olivary complex	UBERON:0002127	92.58	gold quality
lower esophagus mucosa	UBERON:0035834	92.55	gold quality
right frontal lobe	UBERON:0002810	91.91	gold quality
subthalamic nucleus	UBERON:0001906	91.67	gold quality
telencephalon	UBERON:0001893	91.62	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-GEOD-99795	no	26.17
E-ANND-3	no	2.56

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

130 targeting ZNF365, 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-5692A	100.00	74.40	6850
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872

Literature-anchored findings (GeneRIF, showing 16)

• A novel gene responsible for UAN was identified in an Italian population. (PMID:12740763)
• findings indicate that Su48 can form a protein complex with Nde1 in the centrosome and plays an important role for successful mitosis (PMID:16682949)
• The association of PCNT2 and DBZ with schizophrenia and bipolar disorder in a case-control study of Japanese cohorts, was examined. (PMID:19191256)
• the non-synonymous Ala62Thr SNP, rs7076156, underlies the association between 10q21 and CD risk and suggest that this SNP acts by altering expression of genes under the control of ZNF365 isoform D. (PMID:21257989)
• Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. (PMID:22351618)
• Our findings suggest that RAB3GAP1 and ZNF365 are relevant candidate genes for SCD and will contribute to the mechanistic understanding of SCD susceptibility. (PMID:23593153)
• In the absence of ZNF365, defective telomeres engage in aberrant recombination of telomere ends, leading to increased telomere sister chromatid exchange and formation of anaphase DNA bridges, including ultra-fine DNA bridges, and ultimately increased cytokinesis failure and aneuploidy (PMID:23776040)
• These results suggest an homologous recombination repair-dependent function of ZNF365 in preventing genomic instability. (PMID:23966166)
• We evaluated the association of polymorphisms of ZNF365 gene with the metabolic disorders in children with urolithiasis (PMID:25060549)
• Single-nucleotide polymorphism in ZNF365 gene is associated with Crohn’s disease. (PMID:25489960)
• we discuss the expression of DISC1, DBZ, and SGK1 , their roles in the regulation of oligodendrocyte function, possible interactions of DISC1 and DBZ in relation to SZ, and the activation of the SGK1 signaling cascade in relation to MDD. (PMID:25705664)
• The SNP rs10995251 in ZNF365 gene is associated with the susceptibility to bronchial asthma in children. (PMID:26287344)
• It regulates cortical cell positioning and neurite extension by sustaining the anterograde transport of Lis1/DISC1 through control of Ndel1 phosphorylation (PMID:27333658)
• Lack of ZNF365 Drives Senescence and Exacerbates Experimental Lung Fibrosis. (PMID:36139424)
• Potential Role of Zinc Finger 365 rs10822013 and rs10995190 in Mammographic Density, Sporadic Breast Cancer Risk, and Prognosis. (PMID:38094285)
• Reduced Proliferative Capacity and Defense against Staphylococcus aureus in Human Nasal Mucosal Epithelium Lacking ZNF365. (PMID:38354721)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	znf365	ENSDARG00000087985
mus_musculus	Zfp365	ENSMUSG00000037855
rattus_norvegicus	Zfp365	ENSRNOG00000000638

Paralogs (1): FBXO41 (ENSG00000163013)

Protein

Protein identifiers

Talanin — Q70YC4 (reviewed: Q70YC4, Q70YC5)

All UniProt accessions (2): C9J1G1, Q70YC5

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in uric acid excretion.

Tissue specificity. Isoform 4 is expressed in placenta, lung, kidney and pancreas.

Disease relevance. Uric acid nephrolithiasis (UAN) [MIM:605990] A form of nephrolithiasis, a common multifactorial disease characterized by stones formation in the kidney and urinary tract. Nephrolithiasis is due to supersaturation of the urine by stone-forming constituents, including calcium, oxalate and uric acid. Crystals or foreign bodies can act as nidi, upon which ions from the supersaturated urine form microscopic crystalline structures. Uric acid nephrolithiasis occurs when the urine becomes overly concentrated with uric acid and accounts for 20% of all stones. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Polymorphism. Thr-62 is associated with increased risk for uric acid nephrolithiasis.

Miscellaneous. Isoform 4 (talanin) of ZNF365 does not exist in rodents. In primates, a canonical intron-exon structure exist, with several stop codons preventing talanin production in old world and new world monkeys. It seems therefore that isoform 4 transcript emerged during primate evolution from a noncoding genomic sequence.

Isoforms (6)

UniProt ID	Names	Canonical?
Q70YC4-1	4, Talanin, ZNF365D	yes
Q70YC5-1	1, ZNF365A
Q70YC5-2	2, ZNF365B
Q70YC5-3	3, ZNF365C
Q70YC5-4	5
Q70YC5-5	6

RefSeq proteins (2): NP_055766, NP_955522 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR052283	GenomicStab_NeuMorph_Reg	Family
IPR057038	FBX41/ZN365_Znf-C2H2	Domain

Pfam: PF23165

UniProt features (18 total): splice variant 5, modified residue 4, chain 2, sequence variant 2, zinc finger region 1, sequence conflict 1, region of interest 1, coiled-coil region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q70YC4-F1	30.21	0.00
AF-Q70YC5-F1	67.37	0.35

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 (4): 16, 138, 175, 369

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 260 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, GOBP_DNA_TEMPLATED_DNA_REPLICATION_MAINTENANCE_OF_FIDELITY, GOBP_MITOTIC_CYTOKINESIS, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, GOBP_DENDRITE_DEVELOPMENT, GOBP_CHROMOSOME_ORGANIZATION, GOBP_HINDBRAIN_DEVELOPMENT, GOBP_REGULATION_OF_DNA_RECOMBINATION, GOBP_METENCEPHALON_DEVELOPMENT, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GOBP_DENDRITIC_SPINE_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_GLIAL_CELL_DIFFERENTIATION, GOBP_CEREBELLAR_CORTEX_MORPHOGENESIS

GO Biological Process (12): mitotic cytokinesis (GO:0000281), gamma-tubulin complex localization (GO:0033566), telomere maintenance (GO:0000723), regulation of double-strand break repair via homologous recombination (GO:0010569), regulation of neuron projection development (GO:0010975), negative regulation of neuron projection development (GO:0010977), cerebellar molecular layer morphogenesis (GO:0021687), positive regulation of oligodendrocyte differentiation (GO:0048714), dendritic spine morphogenesis (GO:0060997), regulation of DNA strand resection involved in replication fork processing (GO:0110026), dendrite arborization (GO:0140059), nervous system development (GO:0007399)

GO Molecular Function (5): protein homodimerization activity (GO:0042803), zinc ion binding (GO:0008270), identical protein binding (GO:0042802), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (3): centrosome (GO:0005813), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
neuron projection development	3
dendrite morphogenesis	2
mitotic cell cycle	1
cytoskeleton-dependent cytokinesis	1
mitotic cell cycle process	1
protein-containing complex localization	1
DNA metabolic process	1
telomere organization	1
regulation of DNA recombination	1
double-strand break repair via homologous recombination	1
regulation of double-strand break repair	1
regulation of plasma membrane bounded cell projection organization	1
regulation of neuron projection development	1
negative regulation of cell projection organization	1
anatomical structure morphogenesis	1
cerebellar molecular layer development	1
cerebellar cortex morphogenesis	1
positive regulation of glial cell differentiation	1
oligodendrocyte differentiation	1
regulation of oligodendrocyte differentiation	1
neuron projection morphogenesis	1
dendritic spine development	1
dendritic spine organization	1
regulation of DNA metabolic process	1
DNA strand resection involved in replication fork processing	1
neuron projection arborization	1
system development	1
identical protein binding	1
protein dimerization activity	1
transition metal ion binding	1
protein binding	1
binding	1
cation binding	1
centriole	1
microtubule organizing center	1
intracellular anatomical structure	1
cellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

6 interactions, top by confidence:

A	B	Type	Score
FMR1	ZNF365	psi-mi:“MI:0915”(physical association)	0.000
DISC1	ZNF365	psi-mi:“MI:0915”(physical association)	0.000
DSCAM	ZNF365	psi-mi:“MI:0915”(physical association)	0.000
DYRK1A	ZNF365	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (20): ZNF365 (Reconstituted Complex), PARP1 (Affinity Capture-MS), PARP1 (Affinity Capture-Western), MRE11A (Affinity Capture-Western), VDAC3 (Proximity Label-MS), TRAF7 (Affinity Capture-MS), DISC1 (Affinity Capture-MS), RABGAP1L (Affinity Capture-MS), KIAA1549 (Affinity Capture-MS), SASS6 (Affinity Capture-MS), EPS15L1 (Affinity Capture-MS), CEP250 (Affinity Capture-MS), GRIPAP1 (Affinity Capture-MS), PIBF1 (Affinity Capture-MS), ZNF365 (Affinity Capture-MS)

ESM2 similar proteins: A0A023PXM2, A6NCI5, G2TRM1, O13550, O13576, O14263, P0C5R5, P17575, P28626, P36073, P36710, P38161, P38322, P38730, P38864, P47034, P47174, P53876, P62950, P62951, P62952, P62953, P62954, P68478, P68479, P76163, P85052, P87263, P93277, Q04501, Q04502, Q04838, Q10493, Q12070, Q12307, Q1Q7V2, Q4G2S9, Q5R692, Q6UY13, Q6ZVL8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	39
Likely benign	4
Benign	17

Top pathogenic / likely-pathogenic (0)

SpliceAI

1132 predictions. Top by Δscore:

Variant	Effect	Δscore
10:62374454:GTCGG:G	donor_gain	1.0000
10:62374457:GG:G	donor_gain	1.0000
10:62374458:GG:G	donor_gain	1.0000
10:62374459:G:GG	donor_gain	1.0000
10:62374460:T:G	donor_loss	1.0000
10:62388386:T:TA	acceptor_gain	1.0000
10:62388394:A:AG	acceptor_gain	1.0000
10:62388395:G:GG	acceptor_gain	1.0000
10:62388395:GA:G	acceptor_gain	1.0000
10:62388395:GAGA:G	acceptor_gain	1.0000
10:62388395:GAGAA:G	acceptor_gain	1.0000
10:62374455:TCGG:T	donor_gain	0.9900
10:62374456:CGG:C	donor_gain	0.9900
10:62374457:GGG:G	donor_gain	0.9900
10:62384975:G:GT	donor_gain	0.9900
10:62385081:G:GG	donor_gain	0.9900
10:62388377:T:TA	acceptor_gain	0.9900
10:62388382:T:G	acceptor_gain	0.9900
10:62388392:GCA:G	acceptor_loss	0.9900
10:62388393:CA:C	acceptor_loss	0.9900
10:62388574:GTG:G	donor_gain	0.9900
10:62388577:G:GG	donor_gain	0.9900
10:62390415:G:GT	donor_gain	0.9900
10:62390423:G:GT	donor_gain	0.9900
10:62398774:GCCT:G	donor_gain	0.9900
10:62398778:G:GG	donor_gain	0.9900
10:62398782:G:GG	donor_gain	0.9900
10:62376932:GAAGA:G	donor_gain	0.9800
10:62376935:GA:G	donor_gain	0.9800
10:62376937:G:GG	donor_gain	0.9800

AlphaMissense

2675 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:62388485:T:C	L278P	0.999
10:62376275:T:C	C28R	0.998
10:62376866:G:C	A225P	0.998
10:62376900:T:C	L236P	0.998
10:62376921:T:C	L243P	0.998
10:62388422:T:C	L257P	0.998
10:62388464:T:C	L271P	0.998
10:62388472:T:C	F274L	0.998
10:62388474:T:A	F274L	0.998
10:62388474:T:G	F274L	0.998
10:62376302:T:C	F37L	0.997
10:62376303:T:C	F37S	0.997
10:62376304:T:A	F37L	0.997
10:62376304:T:G	F37L	0.997
10:62376774:T:C	L194P	0.997
10:62376804:T:C	L204P	0.997
10:62376867:C:A	A225D	0.997
10:62376888:T:C	L232P	0.997
10:62388418:T:C	F256L	0.997
10:62388419:T:C	F256S	0.997
10:62388420:C:A	F256L	0.997
10:62388420:C:G	F256L	0.997
10:62388430:G:C	A260P	0.997
10:62388473:T:C	F274S	0.997
10:62388494:G:C	R281P	0.997
10:62376321:T:C	L43S	0.996
10:62376908:T:C	S239P	0.996
10:62388433:G:C	A261P	0.996
10:62388464:T:A	L271H	0.996
10:62376881:G:C	A230P	0.995

dbSNP variants (sampled 300 via entrez): RS1000000246 (10:62394659 A>G), RS1000030329 (10:62433427 A>C), RS1000059812 (10:62433668 G>A,T), RS1000061738 (10:62431837 G>A), RS1000062250 (10:62473137 T>C), RS1000077131 (10:62478370 C>G), RS1000116482 (10:62467513 T>C), RS1000132859 (10:62473498 A>G), RS1000141134 (10:62437129 C>A), RS1000177561 (10:62430441 G>A), RS1000192370 (10:62427439 GGT>G), RS1000227635 (10:62388648 A>C,G), RS1000258015 (10:62439744 T>C), RS1000301390 (10:62421544 A>G), RS1000388923 (10:62443446 T>G)

Disease associations

OMIM: gene MIM:607818 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

32 total (30 of 32 shown, HPO-id order):

HPO	Term
HP:0000017	Nocturia
HP:0000708	Atypical behavior
HP:0000709	Psychosis
HP:0000711	Restlessness
HP:0000716	Depression
HP:0000738	Hallucinations
HP:0000739	Anxiety
HP:0000822	Hypertension
HP:0000826	Precocious puberty
HP:0000975	Hyperhidrosis
HP:0001262	Excessive daytime somnolence
HP:0001279	Syncope
HP:0001350	Slurred speech
HP:0001513	Obesity
HP:0002019	Constipation
HP:0002076	Migraine
HP:0002307	Drooling
HP:0002360	Sleep disturbance
HP:0002494	Abnormal rapid eye movement sleep
HP:0002519	Hypnagogic hallucination
HP:0002524	Cataplexy
HP:0006896	Hypnopompic hallucination
HP:0007018	Attention deficit hyperactivity disorder
HP:0007686	Abnormal pupillary function
HP:0010534	Transient global amnesia
HP:0010535	Sleep apnea
HP:0012452	Restless legs
HP:0025233	Sleep paralysis
HP:0025235	NREM parasomnia
HP:0030014	Female sexual dysfunction

GWAS associations

76 associations (top):

Study	Trait	p-value
GCST000207_16	Crohn’s disease	4.000000e-20
GCST000678_3	Breast cancer	5.000000e-15
GCST000879_27	Crohn’s disease	4.000000e-22
GCST000958_1	Percent mammographic density	1.000000e-09
GCST001224_2	Breast cancer	6.000000e-09
GCST001407_3	Ewing sarcoma	4.000000e-17
GCST001428_2	Intelligence	3.000000e-07
GCST001438_9	Crohn’s disease	7.000000e-09
GCST001585_31	Breast size	3.000000e-09
GCST001652_8	Crohn’s disease	5.000000e-06
GCST001709_14	Atopic dermatitis	6.000000e-20
GCST001930_4	Breast cancer	1.000000e-07
GCST001937_37	Breast cancer	1.000000e-36
GCST002260_5	Narcolepsy	1.000000e-11
GCST002562_3	Vogt-Koyanagi-Harada syndrome	3.000000e-11
GCST002639_2	Autism spectrum disorder-related traits	2.000000e-07
GCST002667_6	Mammographic density (dense area)	1.000000e-16
GCST002668_6	Mammographic density (non-dense area)	8.000000e-07
GCST002669_4	Percent mammographic density	1.000000e-09
GCST003097_20	Pediatric autoimmune diseases	8.000000e-11
GCST003184_38	Atopic dermatitis	1.000000e-06
GCST003842_11	Breast cancer (estrogen-receptor negative)	4.000000e-08
GCST003845_11	Breast cancer	8.000000e-06
GCST003985_9	Breast size	3.000000e-15
GCST003988_24	Hypothyroidism	4.000000e-08
GCST004113_2	Basal cell carcinoma	3.000000e-07
GCST004131_20	Inflammatory bowel disease	2.000000e-36
GCST004132_12	Crohn’s disease	8.000000e-29
GCST004133_19	Ulcerative colitis	1.000000e-15
GCST004346_26	Psoriasis	2.000000e-08

EFO canonical traits (19, from GWAS)

EFO ID	Trait name
EFO:0005941	mammographic density measurement
EFO:0004337	intelligence
EFO:0005426	autism spectrum disorder symptom
EFO:0006503	dense area measurement
EFO:0006504	non-dense area measurement
EFO:0006502	mammographic density percentage
EFO:0007991	eosinophil percentage of leukocytes
EFO:0004842	eosinophil count
EFO:0007996	eosinophil percentage of granulocytes
EFO:0007994	neutrophil percentage of granulocytes
EFO:0005090	basophil count
EFO:0006336	diastolic blood pressure
EFO:0006335	systolic blood pressure
EFO:0008328	chronotype measurement
EFO:0010093	bitter non-alcoholic beverage consumption measurement
EFO:0004784	self reported educational attainment
EFO:0010176	keratinocyte carcinoma
EFO:0004278	sudden cardiac arrest
EFO:0007828	daytime rest measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	4
sodium arsenite	affects methylation, decreases expression, increases expression	3
Estradiol	affects cotreatment, decreases expression, increases expression	3
Benzo(a)pyrene	affects methylation	2
TAK-243	increases sumoylation	1
propionaldehyde	increases expression	1
bisphenol A	affects cotreatment, increases methylation	1
terbufos	increases methylation	1
trichostatin A	increases expression	1
butyraldehyde	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
pentanal	increases expression	1
CGP 52608	affects binding, increases reaction	1
ICG 001	decreases expression	1
(+)-JQ1 compound	decreases expression	1
2,6-dichloro-(1,4)benzoquinone	increases expression	1
Zoledronic Acid	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Vorinostat	increases expression	1
Aldehydes	increases expression	1
Arsenic	affects methylation	1
Fonofos	increases methylation	1
Lead	affects expression	1
Lipopolysaccharides	increases expression, affects cotreatment, affects response to substance	1
Methapyrilene	increases methylation	1
Parathion	increases methylation	1
Silicon Dioxide	increases expression	1
Tetrachlorodibenzodioxin	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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