HERC3

Summary

HERC3 (HECT and RLD domain containing E3 ubiquitin protein ligase 3, HGNC:4876) is a protein-coding gene on chromosome 4q22.1, encoding Probable E3 ubiquitin-protein ligase HERC3 (Q15034). E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.

This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Source: NCBI Gene 8916 — RefSeq curated summary.

At a glance

• GWAS associations: 18
• Clinical variants (ClinVar): 166 total
• MANE Select transcript: NM_014606

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4876
Approved symbol	HERC3
Name	HECT and RLD domain containing E3 ubiquitin protein ligase 3
Location	4q22.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0032
Ensembl gene	ENSG00000138641
Ensembl biotype	protein_coding
OMIM	605200
Entrez	8916

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 13 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000402738, ENST00000407637, ENST00000422770, ENST00000426683, ENST00000431413, ENST00000452979, ENST00000470815, ENST00000504994, ENST00000882751, ENST00000950977, ENST00000950978, ENST00000950979, ENST00000950980, ENST00000950981, ENST00000950982

RefSeq mRNA: 7 — MANE Select: NM_014606 NM_001271602, NM_001318505, NM_001375477, NM_001375478, NM_001375480, NM_001375481, NM_014606

CCDS: CCDS34028, CCDS82939, CCDS93559

Canonical transcript exons

ENST00000402738 — 26 exons

Exon	Start	End
ENSE00000732471	88649840	88649999
ENSE00000732476	88652012	88652088
ENSE00000732487	88655174	88655304
ENSE00000732490	88655875	88656035
ENSE00000732525	88704098	88704281
ENSE00000732528	88704508	88704610
ENSE00000801234	88664153	88664212
ENSE00000801235	88662431	88662555
ENSE00000801236	88658415	88658491
ENSE00000801239	88654042	88654133
ENSE00001006184	88676218	88676241
ENSE00001175174	88652869	88653090
ENSE00001551382	88592480	88592574
ENSE00001558775	88706752	88708539
ENSE00003537143	88669860	88670023
ENSE00003554721	88667377	88667488
ENSE00003667324	88667892	88668081
ENSE00003819458	88595557	88595614
ENSE00003819574	88605795	88606049
ENSE00003866628	88680093	88680236
ENSE00003868961	88670139	88670252
ENSE00003876111	88677964	88678134
ENSE00003876949	88681159	88681325
ENSE00003880950	88686736	88686802
ENSE00003883869	88687217	88687299
ENSE00003885173	88676334	88676423

Expression profiles

Bgee: expression breadth ubiquitous, 177 present calls, max score 93.94.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.8143 / max 272.7187, expressed in 1684 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
48812	10.4046	1674
48811	0.8200	437
48813	0.2689	126
48814	0.1013	46
48815	0.0395	18

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	93.94	gold quality
bone marrow cell	CL:0002092	92.70	gold quality
buccal mucosa cell	CL:0002336	90.97	gold quality
calcaneal tendon	UBERON:0003701	90.80	gold quality
cortical plate	UBERON:0005343	90.25	gold quality
cerebellar hemisphere	UBERON:0002245	89.75	gold quality
cerebellar cortex	UBERON:0002129	89.64	gold quality
right hemisphere of cerebellum	UBERON:0014890	89.30	gold quality
monocyte	CL:0000576	89.13	gold quality
leukocyte	CL:0000738	88.88	gold quality
colonic epithelium	UBERON:0000397	88.69	gold quality
cerebellum	UBERON:0002037	87.40	gold quality
muscle of leg	UBERON:0001383	86.12	gold quality
gastrocnemius	UBERON:0001388	85.92	gold quality
skin of abdomen	UBERON:0001416	85.90	gold quality
right lung	UBERON:0002167	85.90	gold quality
smooth muscle tissue	UBERON:0001135	85.86	gold quality
skin of leg	UBERON:0001511	85.80	gold quality
hindlimb stylopod muscle	UBERON:0004252	85.28	gold quality
lower esophagus muscularis layer	UBERON:0035833	85.14	gold quality
lower esophagus	UBERON:0013473	85.13	gold quality
lower esophagus mucosa	UBERON:0035834	84.88	gold quality
descending thoracic aorta	UBERON:0002345	84.79	gold quality
vermiform appendix	UBERON:0001154	84.77	gold quality
gall bladder	UBERON:0002110	84.67	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	84.58	gold quality
popliteal artery	UBERON:0002250	84.45	gold quality
tibial artery	UBERON:0007610	84.43	gold quality
right atrium auricular region	UBERON:0006631	84.39	gold quality
prefrontal cortex	UBERON:0000451	84.35	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

106 targeting HERC3, 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-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4262	100.00	73.26	3931
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-3163	100.00	77.23	8605
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-548P	99.98	72.25	3784
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-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AQ-3P	99.93	72.66	4867

Literature-anchored findings (GeneRIF, showing 8)

• we found somatic mutations of HERC2, HERC3, TRIP12, UBE2Q1 and UBE4B genes in gastric carcinoma and colorectal carcinomas with microsatellite instability (PMID:22124266)
• HERC3 negatively regulates NF-kappaB signaling by enhancing RelA subunit degradation. (PMID:26476452)
• The data illuminate a novel axis regulating cell senescence: DeltaNp63alpha stimulates transcription of E3 ligase HERC3, which mediates ubiquitination of c-Myc modulator MM1 and targets it to proteasomal degradation; subsequently, c-Myc is derepressed by DeltaNp63alpha, thereby cell senescence is modulated by this axis. (PMID:29880857)
• The increased expression of HERC3 in glioblastoma associated with poor clinical outcome. In experimental models, autophagy inducers upregulated HERC3. (PMID:30862693)
• HERC3 regulates epithelial-mesenchymal transition by directly ubiquitination degradation EIF5A2 and inhibits metastasis of colorectal cancer. (PMID:35064108)
• HERC3 directly targets RPL23A for ubiquitination degradation and further regulates Colorectal Cancer proliferation and the cell cycle. (PMID:35637966)
• HERC3 promotes YAP/TAZ stability and tumorigenesis independently of its ubiquitin ligase activity. (PMID:36598329)
• HERC3 facilitates ERAD of select membrane proteins by recognizing membrane-spanning domains. (PMID:38722278)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	herc3	ENSDARG00000075887
mus_musculus	Herc3	ENSMUSG00000029804
rattus_norvegicus	Herc3	ENSRNOG00000007304

Paralogs (24): HECW1 (ENSG00000002746), UBE3C (ENSG00000009335), NEDD4L (ENSG00000049759), NEDD4 (ENSG00000069869), ITCH (ENSG00000078747), HACE1 (ENSG00000085382), HUWE1 (ENSG00000086758), HECTD1 (ENSG00000092148), UBR5 (ENSG00000104517), SMURF2 (ENSG00000108854), UBE3A (ENSG00000114062), AREL1 (ENSG00000119682), WWP1 (ENSG00000123124), HERC2 (ENSG00000128731), HECW2 (ENSG00000138411), HERC6 (ENSG00000138642), HERC5 (ENSG00000138646), HERC4 (ENSG00000148634), UBE3B (ENSG00000151148), TRIP12 (ENSG00000153827), HECTD2 (ENSG00000165338), HECTD4 (ENSG00000173064), WWP2 (ENSG00000198373), SMURF1 (ENSG00000198742)

Protein

Protein identifiers

Probable E3 ubiquitin-protein ligase HERC3 — Q15034 (reviewed: Q15034)

Alternative names: HECT domain and RCC1-like domain-containing protein 3, HECT-type E3 ubiquitin transferase HERC3

All UniProt accessions (5): Q15034, C9J6Z1, C9J8E7, C9JFL2, C9JKA7

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.

Subcellular location. Cytoplasm. Cytoplasmic vesicle.

Post-translational modifications. Ubiquitinated; which promotes degradation by the proteasome.

Pathway. Protein modification; protein ubiquitination.

Isoforms (2)

UniProt ID	Names	Canonical?
Q15034-1	1	yes
Q15034-2	2

RefSeq proteins (7): NP_001258531, NP_001305434, NP_001362406, NP_001362407, NP_001362409, NP_001362410, NP_055421* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000408	Reg_chr_condens	Repeat
IPR000569	HECT_dom	Domain
IPR009091	RCC1/BLIP-II	Homologous_superfamily
IPR035983	Hect_E3_ubiquitin_ligase	Homologous_superfamily
IPR051709	Ub-ligase/GTPase-reg	Family
IPR058923	RCC1-like_dom	Domain

Pfam: PF00632, PF25390

UniProt features (13 total): repeat 7, splice variant 2, chain 1, sequence variant 1, domain 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15034-F1	89.10	0.62

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 1018 (glycyl thioester intermediate)

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation

MSigDB gene sets: 159 (showing top): REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, RIZKI_TUMOR_INVASIVENESS_3D_DN, MODULE_206, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, NELSON_RESPONSE_TO_ANDROGEN_UP, WINTER_HYPOXIA_METAGENE, WANG_CISPLATIN_RESPONSE_AND_XPC_DN, chr4q22, KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS, GOBP_PROTEIN_CATABOLIC_PROCESS, ZHENG_BOUND_BY_FOXP3, MARSON_BOUND_BY_FOXP3_UNSTIMULATED

GO Biological Process (2): ubiquitin-dependent protein catabolic process (GO:0006511), protein ubiquitination (GO:0016567)

GO Molecular Function (4): ubiquitin protein ligase activity (GO:0061630), ubiquitin-protein transferase activity (GO:0004842), protein binding (GO:0005515), transferase activity (GO:0016740)

GO Cellular Component (2): cytoplasm (GO:0005737), cytoplasmic vesicle (GO:0031410)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Class I MHC mediated antigen processing & presentation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein ubiquitination	1
modification-dependent protein catabolic process	1
protein modification by small protein conjugation	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
ubiquitin-like protein transferase activity	1
binding	1
catalytic activity	1
intracellular anatomical structure	1
cellular anatomical structure	1
cytoplasm	1
intracellular vesicle	1

Protein interactions and networks

STRING

928 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HERC3	UBQLN1	Q9UMX0	703
HERC3	NAP1L5	Q96NT1	670
HERC3	UBQLN2	Q9UHD9	669
HERC3	FAM13A	O94988	575
HERC3	BLCAP	P62952	521
HERC3	CHRAC1	Q9NRG0	505
HERC3	UBE2E2	Q96LR5	493
HERC3	TRAPPC9	Q96Q05	491
HERC3	UBE4A	Q14139	477
HERC3	SH3RF1	Q7Z6J0	474
HERC3	COPG2	Q9UBF2	470
HERC3	PIGY	Q3MUY2	464
HERC3	UBE2L6	O14933	462
HERC3	RABIF	P47224	458
HERC3	ASB4	Q9Y574	457

IntAct

49 interactions, top by confidence:

A	B	Type	Score
HERC3	RPL23A	psi-mi:“MI:0915”(physical association)	0.660
RPL23A	HERC3	psi-mi:“MI:0915”(physical association)	0.660
HERC3	RPL23A	psi-mi:“MI:0407”(direct interaction)	0.660
HERC3	RPL23A	psi-mi:“MI:0403”(colocalization)	0.660
HERC3	RPL23A	psi-mi:“MI:0220”(ubiquitination reaction)	0.660
TTLL2	HERC3	psi-mi:“MI:0915”(physical association)	0.590
CYP39A1	HERC3	psi-mi:“MI:0915”(physical association)	0.590
POTEC	POTEF	psi-mi:“MI:0914”(association)	0.530
CYP8B1	TACSTD2	psi-mi:“MI:0914”(association)	0.530
HERC3	H3-7	psi-mi:“MI:0914”(association)	0.530
UBC	HERC3	psi-mi:“MI:0407”(direct interaction)	0.440
CD33	HERC3	psi-mi:“MI:0915”(physical association)	0.370
HERC3	CCL22	psi-mi:“MI:0915”(physical association)	0.370
HERC3	TK1	psi-mi:“MI:0915”(physical association)	0.370
KCNC4	GXYLT2	psi-mi:“MI:0914”(association)	0.350
FAM189B	KLRG2	psi-mi:“MI:0914”(association)	0.350
IL17RC	C2CD2L	psi-mi:“MI:0914”(association)	0.350
HSD17B3	POTEI	psi-mi:“MI:0914”(association)	0.350
ACOX3	HERC3	psi-mi:“MI:0914”(association)	0.350
SLC25A2	HERC3	psi-mi:“MI:0914”(association)	0.350
P		psi-mi:“MI:0914”(association)	0.350

BioGRID (107): HERC3 (Affinity Capture-RNA), HERC3 (Affinity Capture-RNA), HERC3 (Affinity Capture-RNA), HERC3 (Affinity Capture-MS), HERC3 (Affinity Capture-MS), HERC3 (Affinity Capture-MS), HERC3 (Affinity Capture-MS), HERC3 (Affinity Capture-MS), HERC3 (Affinity Capture-MS), HERC3 (Affinity Capture-MS), HERC3 (Affinity Capture-MS), HERC3 (Affinity Capture-MS), HERC3 (Affinity Capture-MS), HERC3 (Affinity Capture-MS), HERC3 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2K344, A0JM23, D3ZBM7, E1C656, F1M386, F1N6G5, F1PBJ0, F8W2M1, O02697, O08759, O14830, O35385, P0CI65, P32871, P42336, P42337, P42338, P48736, Q05086, Q15034, Q28BK1, Q3U0D9, Q3UMR0, Q5GLZ8, Q5PQN1, Q5RD78, Q5REW9, Q5U5R9, Q6AZT7, Q6DCL5, Q6PAV2, Q7TNH6, Q7Z494, Q8BTI9, Q8CDU6, Q8CHG5, Q8CHG7, Q8IVU3, Q8IYU2, Q8K4M9

Diamond homologs: A0A8C0NGY6, A1CQG2, A1D3C5, A2A5Z6, A2QQ28, A9JRZ0, B0XQ72, B8N7E5, D3ZBM7, D6C652, E1B7Q7, E1C656, F1LP64, F1N6G5, F8W2M1, G0S9J5, G5E870, H2LBU8, O00308, O08759, O13834, O14326, O15033, P39940, P40985, P46934, P46935, P46937, P46938, P51593, P53119, Q03280, Q05086, Q08CZ0, Q09291, Q0CCL1, Q14669, Q15034, Q15386, Q1K9C4

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	HERC3	ubiquitination
HERC3	“down-regulates quantity by destabilization”	RELA	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	128
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

4632 predictions. Top by Δscore:

Variant	Effect	Δscore
4:88592573:AGGTG:A	donor_loss	1.0000
4:88592575:G:C	donor_loss	1.0000
4:88592576:T:A	donor_loss	1.0000
4:88649838:A:AG	acceptor_gain	1.0000
4:88649839:G:GG	acceptor_gain	1.0000
4:88649839:GAAC:G	acceptor_gain	1.0000
4:88649998:AGGT:A	donor_loss	1.0000
4:88650000:G:GG	donor_gain	1.0000
4:88650000:GTAAG:G	donor_loss	1.0000
4:88650001:T:G	donor_loss	1.0000
4:88652921:G:T	donor_gain	1.0000
4:88654036:TTCTA:T	acceptor_loss	1.0000
4:88654037:TCTAG:T	acceptor_loss	1.0000
4:88654038:CTAG:C	acceptor_loss	1.0000
4:88654039:TAGAT:T	acceptor_loss	1.0000
4:88654040:A:AG	acceptor_gain	1.0000
4:88654040:AG:A	acceptor_loss	1.0000
4:88654041:G:GA	acceptor_gain	1.0000
4:88654041:G:GT	acceptor_loss	1.0000
4:88654041:GATC:G	acceptor_gain	1.0000
4:88654130:AAAGG:A	donor_loss	1.0000
4:88654132:AGG:A	donor_loss	1.0000
4:88654134:G:GC	donor_loss	1.0000
4:88654135:T:G	donor_loss	1.0000
4:88655173:GA:G	acceptor_gain	1.0000
4:88655970:T:G	donor_gain	1.0000
4:88660928:T:G	donor_gain	1.0000
4:88667371:GTTTA:G	acceptor_loss	1.0000
4:88667372:TTTAG:T	acceptor_loss	1.0000
4:88667373:TTAGA:T	acceptor_loss	1.0000

AlphaMissense

6919 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:88676384:G:C	K662N	1.000
4:88676384:G:T	K662N	1.000
4:88678055:T:A	V706D	1.000
4:88678061:G:T	R708M	1.000
4:88681192:G:C	G792R	1.000
4:88681193:G:A	G792D	1.000
4:88681208:T:C	L797P	1.000
4:88704229:T:C	L930P	1.000
4:88706946:T:C	F1047L	1.000
4:88706948:T:A	F1047L	1.000
4:88706948:T:G	F1047L	1.000
4:88653009:A:C	S202R	0.999
4:88653011:C:A	S202R	0.999
4:88653011:C:G	S202R	0.999
4:88653045:T:A	W214R	0.999
4:88653045:T:C	W214R	0.999
4:88654126:T:C	L257P	0.999
4:88655196:G:A	G267D	0.999
4:88664187:T:A	W436R	0.999
4:88664187:T:C	W436R	0.999
4:88667962:G:C	R505T	0.999
4:88667963:A:C	R505S	0.999
4:88667963:A:T	R505S	0.999
4:88668079:T:C	L544P	0.999
4:88669865:T:A	W547R	0.999
4:88669865:T:C	W547R	0.999
4:88669868:T:A	W548R	0.999
4:88669868:T:C	W548R	0.999
4:88676406:G:C	A670P	0.999
4:88678049:T:C	L704P	0.999

dbSNP variants (sampled 300 via entrez): RS1000009906 (4:88623147 C>G,T), RS1000031930 (4:88526684 T>A,C), RS1000078195 (4:88622034 A>G), RS10000885 (4:88665040 C>A), RS1000110501 (4:88674272 G>A), RS1000114967 (4:88524116 A>G), RS1000119420 (4:88617154 A>C,G,T), RS1000120110 (4:88579649 G>A), RS1000130208 (4:88549718 C>A,G,T), RS1000143362 (4:88533209 A>G), RS1000157300 (4:88564885 G>A,T), RS1000172627 (4:88542581 A>G), RS1000176297 (4:88672980 A>G), RS1000182536 (4:88660471 T>C), RS1000191381 (4:88707142 T>A,C,G)

Disease associations

OMIM: gene MIM:605200 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

18 associations (top):

Study	Trait	p-value
GCST003264_47	Post bronchodilator FEV1/FVC ratio	2.000000e-06
GCST003478_2	Hair greying	9.000000e-06
GCST005956_59	Waist-to-hip ratio adjusted for BMI	5.000000e-08
GCST005957_14	Waist-to-hip ratio adjusted for BMI (age <50)	2.000000e-06
GCST005962_35	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	2.000000e-08
GCST007483_27	Waist-to-hip ratio adjusted for BMI (additive genetic model)	2.000000e-12
GCST007487_38	Waist-to-hip ratio adjusted for BMI (additive genetic model)	1.000000e-11
GCST007500_32	Waist-to-hip ratio adjusted for BMI (additive genetic model)	2.000000e-16
GCST007502_30	Waist-to-hip ratio adjusted for BMI (additive genetic model)	5.000000e-15
GCST90020024_703	A body shape index	3.000000e-13
GCST90020025_324	Waist-to-hip ratio adjusted for BMI	1.000000e-08
GCST90020025_325	Waist-to-hip ratio adjusted for BMI	2.000000e-08
GCST90020025_952	Waist-to-hip ratio adjusted for BMI	1.000000e-11
GCST90020025_953	Waist-to-hip ratio adjusted for BMI	3.000000e-09
GCST90020027_1900	Waist-hip index	9.000000e-09
GCST90020027_1901	Waist-hip index	2.000000e-08
GCST90020027_1903	Waist-hip index	8.000000e-12
GCST90020027_1904	Waist-hip index	2.000000e-09

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004713	FEV/FVC ratio
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, increases abundance, increases expression, decreases expression	2
Acetaminophen	increases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
aristolochic acid I	decreases expression	1
chloroacetaldehyde	affects expression	1
bisphenol A	decreases methylation	1
beta-lapachone	decreases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
benzo(e)pyrene	decreases methylation	1
potassium chromate(VI)	decreases expression	1
aflatoxin B2	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
abrine	decreases expression	1
EPZ004777	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Cidofovir	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Arsenic	increases expression, affects cotreatment, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	decreases expression	1
Endosulfan	decreases expression	1
Estradiol	decreases expression	1
Ifosfamide	decreases expression	1
Ivermectin	decreases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Methapyrilene	decreases methylation	1
Oxygen	increases expression	1
Ozone	affects expression, increases abundance	1
Phenobarbital	affects expression	1

Clinical trials (associated diseases)

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