ASB3

Summary

ASB3 (ankyrin repeat and SOCS box containing 3, HGNC:16013) is a protein-coding gene on chromosome 2p16.2, encoding Ankyrin repeat and SOCS box protein 3 (Q9Y575). Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants have been described for this gene.

Source: NCBI Gene 51130 — RefSeq curated summary.

At a glance

• GWAS associations: 30
• Clinical variants (ClinVar): 65 total
• MANE Select transcript: NM_016115

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16013
Approved symbol	ASB3
Name	ankyrin repeat and SOCS box containing 3
Location	2p16.2
Locus type	gene with protein product
Status	Approved
Aliases	ASB-3
Ensembl gene	ENSG00000115239
Ensembl biotype	protein_coding
OMIM	605760
Entrez	51130

Gene structure

Transcript identifiers

Ensembl transcripts: 32 — 21 protein_coding, 10 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000263634, ENST00000394717, ENST00000406053, ENST00000406625, ENST00000406687, ENST00000414369, ENST00000459916, ENST00000470707, ENST00000470916, ENST00000480522, ENST00000482134, ENST00000482339, ENST00000482829, ENST00000489508, ENST00000490794, ENST00000498475, ENST00000893612, ENST00000893613, ENST00000893614, ENST00000893615, ENST00000893616, ENST00000893617, ENST00000920431, ENST00000920432, ENST00000920433, ENST00000951941, ENST00000951942, ENST00000951943, ENST00000951944, ENST00000951945, ENST00000951946, ENST00000951947

RefSeq mRNA: 4 — MANE Select: NM_016115 NM_001164165, NM_001201965, NM_016115, NM_145863

CCDS: CCDS1846, CCDS1847

Canonical transcript exons

ENST00000263634 — 10 exons

Exon	Start	End
ENSE00001246219	53786821	53786953
ENSE00001868704	53669980	53670690
ENSE00003480098	53765377	53765585
ENSE00003855519	53728712	53728847
ENSE00003860475	53700271	53700528
ENSE00003861032	53714384	53714581
ENSE00003872444	53750783	53750941
ENSE00003876848	53729458	53729570
ENSE00003879771	53716566	53716743
ENSE00003887312	53693884	53694014

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 96.55.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.2209 / max 312.3113, expressed in 1807 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
28356	11.2749	1787
28355	7.7936	1557
28360	2.9425	254
28357	0.9868	610
28358	0.1175	67
28359	0.0480	36

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	96.55	gold quality
ventricular zone	UBERON:0003053	95.02	gold quality
embryo	UBERON:0000922	93.47	gold quality
ganglionic eminence	UBERON:0004023	93.47	gold quality
middle temporal gyrus	UBERON:0002771	92.79	gold quality
endothelial cell	CL:0000115	92.64	gold quality
tibia	UBERON:0000979	91.46	gold quality
corpus callosum	UBERON:0002336	91.45	gold quality
entorhinal cortex	UBERON:0002728	91.33	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.64	gold quality
postcentral gyrus	UBERON:0002581	90.62	gold quality
oocyte	CL:0000023	90.42	gold quality
temporal lobe	UBERON:0001871	90.39	gold quality
superior frontal gyrus	UBERON:0002661	90.15	gold quality
calcaneal tendon	UBERON:0003701	90.07	gold quality
lateral globus pallidus	UBERON:0002476	90.06	gold quality
amygdala	UBERON:0001876	89.88	gold quality
caudate nucleus	UBERON:0001873	89.85	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.65	gold quality
cerebellar vermis	UBERON:0004720	89.54	gold quality
parietal lobe	UBERON:0001872	89.47	gold quality
nucleus accumbens	UBERON:0001882	89.45	gold quality
adrenal tissue	UBERON:0018303	89.30	gold quality
Brodmann (1909) area 46	UBERON:0006483	89.29	gold quality
substantia nigra	UBERON:0002038	88.95	gold quality
bone marrow cell	CL:0002092	88.84	gold quality
hypothalamus	UBERON:0001898	88.64	gold quality
Ammon’s horn	UBERON:0001954	88.56	gold quality
putamen	UBERON:0001874	88.50	gold quality
midbrain	UBERON:0001891	88.46	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.51

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

54 targeting ASB3, 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-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4803	99.98	71.99	3117
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-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488

Literature-anchored findings (GeneRIF, showing 5)

• ASB3 is a negative regulator of TNF-R2-mediated cellular responses to TNF-alpha by direct targeting of TNF-R2 for ubiquitination and proteasome-mediated degradation. (PMID:15899873)
• GWAS findings for bronchodilator response in asthmatic subjects suggest that ASB3 gene, associated with smooth muscle relaxation, may play a role in the genetics of asthma. (PMID:25562107)
• ASB3 dysfunction resulted from gene mutations or down-regulated expression frequently exists in colorectal cancer and likely plays a key role in the pathogenesis and progression of colorectal cancer. (PMID:28088228)
• ASB3 promotes hepatocellular carcinoma progression by mediating DR5 ubiquitination in TRAIL resistance. (PMID:38334450)
• ASB3 expression aggravates inflammatory bowel disease by targeting TRAF6 protein stability and affecting the intestinal microbiota. (PMID:39162488)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	asb3	ENSDARG00000005246
mus_musculus	Asb3	ENSMUSG00000020305
rattus_norvegicus	Asb3	ENSRNOG00000032471

Paralogs (7): ASB4 (ENSG00000005981), ASB15 (ENSG00000146809), ASB10 (ENSG00000146926), ASB16 (ENSG00000161664), ASB18 (ENSG00000182177), MPHOSPH8 (ENSG00000196199), ASB14 (ENSG00000239388)

Protein

Protein identifiers

Ankyrin repeat and SOCS box protein 3 — Q9Y575 (reviewed: Q9Y575)

All UniProt accessions (2): Q9Y575, H7BYZ6

UniProt curated annotations — full annotation on UniProt →

Function. Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes TNFRSF1B. Plays a role in the down-regulation of antiviral innate immunity by targeting MAVS for ubiquitin-proteasomal degradation. Also destabilizes TRAF6 by enhancing its ‘Lys-48’-linked polyubiquitination.

Subunit / interactions. Interacts with ELOB and TNFRSF1B.

Subcellular location. Cytoplasm.

Domain organisation. The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin-protein ligase complexes.

Induction. Upon sendai virus infection.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the ankyrin SOCS box (ASB) family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9Y575-1	1	yes
Q9Y575-2	2
Q9Y575-3	3

RefSeq proteins (4): NP_001157637, NP_001188894, NP_057199, NP_665862 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001496	SOCS_box	Domain
IPR002110	Ankyrin_rpt	Repeat
IPR036036	SOCS_box-like_dom_sf	Homologous_superfamily
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR037329	ASB3_SOCS	Domain

Pfam: PF00023, PF07525, PF12796

UniProt features (16 total): repeat 11, splice variant 2, chain 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y575-F1	90.62	0.68

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-8951664	Neddylation
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-1280218	Adaptive Immune System
R-HSA-168256	Immune System
R-HSA-392499	Metabolism of proteins
R-HSA-597592	Post-translational protein modification
R-HSA-983169	Class I MHC mediated antigen processing & presentation

MSigDB gene sets: 133 (showing top): GCM_GSPT1, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_MODULATION_OF_PROCESS_OF_ANOTHER_ORGANISM, GCM_BCL2L1, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, HIF1_Q3, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, GCM_NF2

GO Biological Process (2): protein ubiquitination (GO:0016567), intracellular signal transduction (GO:0035556)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): cytosol (GO:0005829), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Post-translational protein modification	1
Class I MHC mediated antigen processing & presentation	1
Immune System	1
Metabolism of proteins	1
Adaptive Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular anatomical structure	2
cellular anatomical structure	2
protein modification by small protein conjugation	1
signal transduction	1
binding	1
cytoplasm	1

Protein interactions and networks

STRING

1589 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASB3	CHAC2	Q8WUX2	725
ASB3	CISH	Q9NSE2	680
ASB3	GPR75	O95800	647
ASB3	SP5	Q6BEB4	546
ASB3	JAK3	P52333	503
ASB3	HSPB3	Q12988	494
ASB3	ERLEC1	Q96DZ1	473
ASB3	WSB2	Q9NYS7	470
ASB3	VPS9D1	Q9Y2B5	468
ASB3	PEX11B	O96011	467
ASB3	PSME4	Q14997	456
ASB3	RPUSD2	Q8IZ73	452
ASB3	LCMT2	O60294	448
ASB3	PNO1	Q9NRX1	432
ASB3	ASB6	Q9NWX5	421

IntAct

40 interactions, top by confidence:

A	B	Type	Score
CUL5	SOCS2	psi-mi:“MI:0914”(association)	0.880
CUL5	SOCS6	psi-mi:“MI:0914”(association)	0.640
SH2D2A	ASB3	psi-mi:“MI:0915”(physical association)	0.570
ASB3	SH2D2A	psi-mi:“MI:0915”(physical association)	0.570
TNNI3K	HIF1AN	psi-mi:“MI:0914”(association)	0.530
WHR1	ASB3	psi-mi:“MI:0915”(physical association)	0.500
HSP90AB1	ASB3	psi-mi:“MI:0915”(physical association)	0.400
TNS2	ASB3	psi-mi:“MI:0915”(physical association)	0.370
RIN3	ASB3	psi-mi:“MI:0915”(physical association)	0.370
ASB3	ZAP70	psi-mi:“MI:0915”(physical association)	0.370
KDM1A	ASB3	psi-mi:“MI:0915”(physical association)	0.370
ASB3	PRMT6	psi-mi:“MI:0915”(physical association)	0.370
DCUN1D1	RGSL1	psi-mi:“MI:0914”(association)	0.350
CUL5	DDX3X	psi-mi:“MI:0914”(association)	0.350
DCUN1D1	COPS2	psi-mi:“MI:0914”(association)	0.350
DCUN1D1	KLHL18	psi-mi:“MI:0914”(association)	0.350
TNNI3K	HSP90AA1	psi-mi:“MI:0914”(association)	0.350
ATG16L1		psi-mi:“MI:0914”(association)	0.350
SPANXN4	UBA6	psi-mi:“MI:0914”(association)	0.350
ASB3	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
MFAP5	MANBA	psi-mi:“MI:0914”(association)	0.350
RNF7	SOCS2	psi-mi:“MI:0914”(association)	0.350
PPP1R12B	ANKRD28	psi-mi:“MI:0914”(association)	0.350
FAM110D	NDUFA2	psi-mi:“MI:0914”(association)	0.350
RBX1	OBSL1	psi-mi:“MI:0914”(association)	0.350
ZBTB46	AP2A2	psi-mi:“MI:0914”(association)	0.350
WHR1	HSPD1	psi-mi:“MI:0914”(association)	0.350

BioGRID (123): ASB3 (Two-hybrid), ASB3 (Two-hybrid), ASB3 (Two-hybrid), SH2D2A (Affinity Capture-Luminescence), CUL5 (Affinity Capture-MS), TOP2B (Affinity Capture-MS), TOP2A (Affinity Capture-MS), FOXP4 (Affinity Capture-MS), KATNB1 (Affinity Capture-MS), ZSWIM8 (Affinity Capture-MS), ERF (Affinity Capture-MS), ASB3 (Affinity Capture-MS), KATNA1 (Affinity Capture-MS), TROAP (Affinity Capture-MS), USP54 (Affinity Capture-MS)

ESM2 similar proteins: A2AS55, B2RXR6, O15084, O75832, P0C927, Q08DV6, Q0P5B9, Q29RM5, Q2TB02, Q3SX45, Q495B1, Q499M5, Q4V890, Q502K3, Q505D1, Q53RE8, Q5F478, Q5RFS1, Q5U2S6, Q5ZLC8, Q6GPE5, Q6P6B7, Q6P9Z4, Q70X92, Q7T3P8, Q810B6, Q8BTI7, Q8C0T1, Q8C6Y6, Q8K0L0, Q8N8A2, Q8NB46, Q8NI38, Q8WXH4, Q91ZT8, Q96AX9, Q96DX5, Q96NS5, Q96Q27, Q9BSK4

Diamond homologs: A2AQH4, A2AS55, A6QR20, O04251, O75762, O90760, P25963, Q10311, Q1RJM6, Q24145, Q499M5, Q4JHE0, Q5H9F3, Q6RI86, Q70X92, Q86WC6, Q8BLA8, Q8N8A2, Q8R3P9, Q9BQI6, Q9J4Z4, Q9WV72, Q9Y575, Q9Z2F6, C0LGP9, F1M5M3, F1MJR8, G5ECN5, O45539, P34891, P47735, Q01389, Q16584, Q54C77, Q54XZ5, Q66HA1, Q66L42, Q7EZ44, Q7M6U3, Q80XI6

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
ASB3	“up-regulates activity”	VCB-Cul2	binding
ASB3	“down-regulates quantity by destabilization”	TNFRSF1B	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 44 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
Potential therapeutics for SARS	5	19.0×	3e-04
Neddylation	8	12.6×	3e-05

GO biological processes:

GO term	Partners	Fold	FDR
protein ubiquitination	8	8.5×	5e-04
proteasome-mediated ubiquitin-dependent protein catabolic process	6	8.0×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	56
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

5802 predictions. Top by Δscore:

Variant	Effect	Δscore
2:53693878:TCTTA:T	donor_loss	1.0000
2:53693879:CTTA:C	donor_loss	1.0000
2:53693880:TTA:T	donor_loss	1.0000
2:53693881:TA:T	donor_loss	1.0000
2:53693881:TAC:T	donor_loss	1.0000
2:53694014:CCTA:C	acceptor_gain	1.0000
2:53695071:C:CT	donor_gain	1.0000
2:53695072:T:TT	donor_gain	1.0000
2:53700532:CACCA:C	acceptor_gain	1.0000
2:53700534:CCA:C	acceptor_gain	1.0000
2:53700536:A:AC	acceptor_gain	1.0000
2:53700543:A:AC	acceptor_gain	1.0000
2:53701870:A:C	donor_gain	1.0000
2:53714382:A:AC	donor_gain	1.0000
2:53714383:C:CC	donor_gain	1.0000
2:53716559:CACTT:C	donor_loss	1.0000
2:53716560:ACTT:A	donor_loss	1.0000
2:53716560:ACTTA:A	donor_loss	1.0000
2:53716561:CTTAC:C	donor_loss	1.0000
2:53716562:TTA:T	donor_loss	1.0000
2:53716563:TA:T	donor_loss	1.0000
2:53716563:TAC:T	donor_loss	1.0000
2:53716564:A:AC	donor_gain	1.0000
2:53716564:ACT:A	donor_loss	1.0000
2:53716565:C:A	donor_loss	1.0000
2:53716565:C:CT	donor_gain	1.0000
2:53716565:CT:C	donor_gain	1.0000
2:53716741:CAC:C	acceptor_gain	1.0000
2:53716742:ACC:A	acceptor_loss	1.0000
2:53716744:C:CC	acceptor_gain	1.0000

AlphaMissense

3406 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:53714518:G:C	S282R	0.995
2:53714518:G:T	S282R	0.995
2:53714520:T:G	S282R	0.995
2:53700329:A:G	W394R	0.993
2:53700329:A:T	W394R	0.993
2:53716692:G:T	A219D	0.991
2:53714513:A:T	V284D	0.990
2:53716693:C:G	A219P	0.990
2:53716587:G:T	A254D	0.988
2:53716690:C:G	A220P	0.988
2:53728757:C:G	A187P	0.988
2:53716585:C:G	A255P	0.987
2:53728756:G:T	A187D	0.987
2:53765425:C:G	A50P	0.986
2:53693969:A:C	F428L	0.984
2:53693969:A:T	F428L	0.984
2:53693971:A:G	F428L	0.984
2:53714505:C:G	A287P	0.984
2:53716599:G:C	P250R	0.983
2:53716599:G:T	P250H	0.983
2:53716656:A:G	L231S	0.983
2:53716588:C:G	A254P	0.982
2:53729469:C:G	A153P	0.982
2:53728760:C:G	A186P	0.981
2:53728764:A:C	F184L	0.979
2:53728764:A:T	F184L	0.979
2:53728766:A:G	F184L	0.979
2:53728790:C:G	D176H	0.979
2:53716686:T:G	Q221P	0.978
2:53714408:G:T	P319H	0.976

dbSNP variants (sampled 300 via entrez): RS1000000715 (2:53747139 CTAATAA>C,CTAA,CTAATAATAA,CTAATAATAATAA), RS1000007414 (2:53678579 C>T), RS1000007816 (2:53706105 GT>G), RS1000039238 (2:53712963 C>A), RS1000041208 (2:53780494 A>C), RS1000046987 (2:53712117 A>C), RS1000058242 (2:53694616 C>T), RS1000099869 (2:53786569 GA>G), RS1000110081 (2:53694317 C>T), RS1000117349 (2:53702005 T>C), RS1000131331 (2:53772668 T>C), RS1000165803 (2:53674923 A>G), RS1000171076 (2:53673285 A>G), RS1000177930 (2:53671947 A>G), RS1000194087 (2:53709523 A>G,T)

Disease associations

OMIM: gene MIM:605760 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)

Orphanet (0):

HPO phenotypes

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

GWAS associations

30 associations (top):

Study	Trait	p-value
GCST001762_752	Obesity-related traits	8.000000e-06
GCST002796_1	Bronchodilator response in asthma	2.000000e-10
GCST003075_107	Cognitive decline rate in late mild cognitive impairment	1.000000e-07
GCST003400_16	Type 2 diabetes	1.000000e-08
GCST003979_2	Excessive daytime sleepiness	2.000000e-07
GCST006104_4	Interleukin-1-receptor antagonist levels	3.000000e-07
GCST006193_90	Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)	1.000000e-11
GCST006194_1	Diastolic blood pressure x smoking status (current vs non-current) interaction (1df test)	2.000000e-09
GCST007576_146	Chronotype	2.000000e-10
GCST008084_178	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	2.000000e-06
GCST008084_91	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	8.000000e-09
GCST008465_3	Anorexia nervosa	6.000000e-09
GCST008477_14	Emphysema annual change measurement in smokers (adjusted lung density)	1.000000e-07
GCST008887_2	Systemising	3.000000e-07
GCST010002_365	Refractive error	3.000000e-34
GCST011494_11	Daytime nap	2.000000e-15
GCST012490_215	Femur bone mineral density x serum urate levels interaction	2.000000e-09
GCST90002383_176	Hematocrit	2.000000e-12
GCST90002384_225	Hemoglobin	8.000000e-12
GCST90002385_129	High light scatter reticulocyte count	2.000000e-16
GCST90002386_246	High light scatter reticulocyte percentage of red cells	3.000000e-15
GCST90002388_69	Lymphocyte count	5.000000e-10
GCST90002389_112	Lymphocyte percentage of white cells	2.000000e-12
GCST90002390_353	Mean corpuscular hemoglobin	4.000000e-12
GCST90002392_269	Mean corpuscular volume	2.000000e-14
GCST90002396_204	Mean reticulocyte volume	6.000000e-18
GCST90002399_142	Neutrophil percentage of white cells	5.000000e-13
GCST90002404_16	Red cell distribution width	1.000000e-32
GCST90002405_124	Reticulocyte count	2.000000e-18
GCST90002406_16	Reticulocyte fraction of red cells	5.000000e-17

EFO canonical traits (22, from GWAS)

EFO ID	Trait name
EFO:0004730	hormone measurement
EFO:0007710	cognitive decline measurement
EFO:0007875	excessive daytime sleepiness measurement
EFO:0004754	interleukin 1 receptor antagonist measurement
EFO:0006336	diastolic blood pressure
EFO:0006527	smoking status measurement
EFO:0008328	chronotype measurement
EFO:0004329	alcohol drinking
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0007626	emphysema imaging measurement
EFO:0010221	systemising measurement
EFO:0007828	daytime rest measurement
EFO:0004531	urate measurement
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement
EFO:0007986	reticulocyte count
EFO:0004587	lymphocyte count
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0004527	mean corpuscular hemoglobin
EFO:0010701	mean reticulocyte volume
EFO:0007990	neutrophil percentage of leukocytes
EFO:0009188	Red cell distribution width

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression, increases methylation	4
Cyclosporine	increases expression	3
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
arsenite	affects binding, increases reaction	1
sodium arsenite	increases expression	1
aflatoxin B2	increases methylation	1
beta-methylcholine	affects expression	1
CGP 52608	affects binding, increases reaction	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Fulvestrant	decreases methylation	1
Vehicle Emissions	decreases methylation	1
Ethyl Methanesulfonate	increases expression	1
Methyl Methanesulfonate	increases expression	1
Ozone	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Rotenone	increases expression	1
Thiram	increases expression	1
Tretinoin	increases expression	1
Tunicamycin	increases expression	1
Vitallium	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT00637364	PHASE1/PHASE2	SUSPENDED	High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855	PHASE1/PHASE2	COMPLETED	Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908	EARLY_PHASE1	COMPLETED	Broccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041	EARLY_PHASE1	COMPLETED	Intraoperative Imaging of Breast Cancer With Indocyanine Green
NCT01208974	Not specified	ACTIVE_NOT_RECRUITING	Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction
NCT01875198	Not specified	TERMINATED	Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer
NCT03543397	Not specified	UNKNOWN	MRI in Ductal Carcinoma in Situ (DCIS)
NCT03834532	Not specified	COMPLETED	Living Well After Breast Surgery