HYAL3

Summary

HYAL3 (hyaluronidase 3, HGNC:5322) is a protein-coding gene on chromosome 3p21.31, encoding Hyaluronidase-3 (O43820). Facilitates sperm penetration into the layer of cumulus cells surrounding the egg by digesting hyaluronic acid.

This gene encodes a member of the hyaluronidase family. Hyaluronidases are endoglycosidase enzymes that degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. The regulated turnover of hyaluronan plays a critical role in many biological processes including cell proliferation, migration and differentiation. The encoded protein may also play an important role in sperm function. This gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression, and the expression of specific transcript variants may be indicative of tumor status. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and some isoforms may lack hyaluronidase activity. This gene overlaps and is on the same strand as N-acetyltransferase 6 (GCN5-related), and some transcripts of each gene share a portion of the first exon.

Source: NCBI Gene 8372 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 134 total
• MANE Select transcript: NM_003549

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5322
Approved symbol	HYAL3
Name	hyaluronidase 3
Location	3p21.31
Locus type	gene with protein product
Status	Approved
Aliases	LUCA-3, LUCA14, Minna14
Ensembl gene	ENSG00000186792
Ensembl biotype	protein_coding
OMIM	604038
Entrez	8372

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 9 protein_coding

ENST00000336307, ENST00000359051, ENST00000415204, ENST00000435141, ENST00000450982, ENST00000513170, ENST00000621157, ENST00000919600, ENST00000919601

RefSeq mRNA: 5 — MANE Select: NM_003549 NM_001200029, NM_001200030, NM_001200031, NM_001200032, NM_003549

CCDS: CCDS2815, CCDS56257, CCDS56259, CCDS56260

Canonical transcript exons

ENST00000336307 — 4 exons

Exon	Start	End
ENSE00000768855	50293632	50293721
ENSE00000768856	50294709	50295619
ENSE00001063603	50299213	50299405
ENSE00003466875	50292832	50293515

Expression profiles

Bgee: expression breadth ubiquitous, 132 present calls, max score 90.67.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.0812 / max 158.7819, expressed in 1779 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
42308	9.0812	1779
42309	4.0640	1638
42306	3.1356	1095

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.67	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.52	gold quality
bone marrow	UBERON:0002371	81.21	gold quality
prefrontal cortex	UBERON:0000451	80.04	gold quality
left testis	UBERON:0004533	79.03	gold quality
testis	UBERON:0000473	78.52	gold quality
frontal cortex	UBERON:0001870	78.31	gold quality
right hemisphere of cerebellum	UBERON:0014890	78.05	gold quality
right testis	UBERON:0004534	77.82	gold quality
cerebellar hemisphere	UBERON:0002245	76.99	gold quality
cerebellar cortex	UBERON:0002129	76.98	gold quality
cerebellum	UBERON:0002037	76.97	gold quality
superior frontal gyrus	UBERON:0002661	76.76	gold quality
primary visual cortex	UBERON:0002436	76.38	gold quality
right frontal lobe	UBERON:0002810	76.24	gold quality
cerebral cortex	UBERON:0000956	75.69	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	75.22	gold quality
anterior cingulate cortex	UBERON:0009835	75.03	gold quality
Brodmann (1909) area 9	UBERON:0013540	74.79	gold quality
granulocyte	CL:0000094	74.47	gold quality
blood	UBERON:0000178	74.12	gold quality
body of stomach	UBERON:0001161	73.88	gold quality
stromal cell of endometrium	CL:0002255	73.62	gold quality
cortical plate	UBERON:0005343	73.56	gold quality
bone marrow cell	CL:0002092	73.03	gold quality
fundus of stomach	UBERON:0001160	73.03	gold quality
right lobe of liver	UBERON:0001114	72.56	gold quality
brain	UBERON:0000955	72.52	gold quality
stomach	UBERON:0000945	72.25	gold quality
caudate nucleus	UBERON:0001873	72.09	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.20
E-MTAB-9801	yes	3.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

33 targeting HYAL3, 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-4481	100.00	66.42	1669
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-4648	99.91	67.00	710
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-1272	99.34	68.79	878
HSA-MIR-296-3P	99.21	66.56	474
HSA-MIR-3164	99.02	68.39	1071
HSA-MIR-6820-3P	99.02	68.50	1035
HSA-MIR-29B-1-5P	98.86	68.35	1364
HSA-MIR-502-5P	98.77	66.51	906
HSA-MIR-3166	98.24	66.63	1223
HSA-MIR-943	97.81	64.42	694
HSA-MIR-7154-3P	97.65	65.02	985
HSA-MIR-27A-5P	97.01	65.63	528

Literature-anchored findings (GeneRIF, showing 11)

• Characterization of the murine hyaluronidase gene region reveals complex organization and cotranscription of Hyal1 with downstream genes, Fus2 and Hyal3. (PMID:11929860)
• Alternative mRNA splicing controls cellular expression of enzymatically active hyaluronidase. (PMID:12084718)
• Down-regulation of HYAL3 is associated with small cell lung cancer and glioma (PMID:12684632)
• Hyal3 null sperm showed delayed cumulus penetration and reduced acrosomal exocytosis. (PMID:20586096)
• Nodular basal cell carcinoma is associated with increased levels of hyaluronic acid concomitant with upregulation of gene expression of HAS3, HYAL3 and RHAMM, when compared with normal adjacent skin. (PMID:20849445)
• Overexpression of HYAL3 is associated with colorectal cancer. (PMID:20849597)
• polymorphisms in HYAL3 are potentially involved in glaucomatous neurodegeneration. (PMID:22960332)
• mutations of the HYAL3 gene are rare in Chinese lung squamous cell carcinoma patients and might contribute to lymph node metastasis (PMID:23549009)
• the relative expression of hyalurosome (CD44, HAS3, HB-EGF) genes was found to be reduced in patients prior to topical treatment and to be notably increased following treatment. (PMID:25138066)
• Expression and activity of hyaluronidases HYAL-1, HYAL-2 and HYAL-3 in the human intervertebral disc. (PMID:31758257)
• HYAL3 as a potential novel marker of BLCA patient prognosis. (PMID:35945500)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	hyal3	ENSDARG00000036818
mus_musculus	Hyal3	ENSMUSG00000036091
rattus_norvegicus	Hyal3	ENSRNOG00000077390
caenorhabditis_elegans		WBGENE00011923

Paralogs (4): HYAL2 (ENSG00000068001), HYAL4 (ENSG00000106302), SPAM1 (ENSG00000106304), HYAL1 (ENSG00000114378)

Protein

Protein identifiers

Hyaluronidase-3 — O43820 (reviewed: O43820)

Alternative names: Hyaluronoglucosaminidase-3, Lung carcinoma protein 3

All UniProt accessions (2): C9JB51, O43820

UniProt curated annotations — full annotation on UniProt →

Function. Facilitates sperm penetration into the layer of cumulus cells surrounding the egg by digesting hyaluronic acid. Involved in induction of the acrosome reaction in the sperm. Involved in follicular atresia, the breakdown of immature ovarian follicles that are not selected to ovulate. Induces ovarian granulosa cell apoptosis, possibly via apoptotic signaling pathway involving CASP8 and CASP3 activation, and poly(ADP-ribose) polymerase (PARP) cleavage. Has no hyaluronidase activity in embryonic fibroblasts in vitro. Has no hyaluronidase activity in granulosa cells in vitro.

Subcellular location. Secreted. Cell membrane. Cytoplasmic vesicle. Secretory vesicle. Acrosome. Endoplasmic reticulum. Early endosome.

Tissue specificity. Expressed in sperm. Highly expressed in epidermis of the skin, where it is expressed intracellularily in the deep horny layer (at protein level). Bone marrow, testis and kidney.

Post-translational modifications. N-glycosylated.

Induction. Expression is not significantly up- or down-regulated by ultraviolet irradiation B (UV-B) in epidermis.

Miscellaneous. Enzymatically inactive. Enzymatically inactive. Enzymatically inactive.

Similarity. Belongs to the glycosyl hydrolase 56 family.

Isoforms (4)

UniProt ID	Names	Canonical?
O43820-1	1	yes
O43820-2	2, HYAL3v1
O43820-3	3, HYAL3v2
O43820-4	4, HYAL3v3

RefSeq proteins (5): NP_001186958, NP_001186959, NP_001186960, NP_001186961, NP_003540* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013785	Aldolase_TIM	Homologous_superfamily
IPR017853	GH_hydrolase_sf	Homologous_superfamily
IPR018155	Hyaluronidase	Family
IPR027260	Hyaluronidase-3	Family

Pfam: PF01630

Enzyme classification (BRENDA):

• EC 3.2.1.35 — hyaluronoglucosaminidase (BRENDA: 70 organisms, 156 substrates, 263 inhibitors, 27 Km, 1 kcat entries)

Substrate kinetics (BRENDA)

8 substrates with measured Km, best-characterized 8. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
HYALURONAN	0.038–0.367	11
CHONDROITIN	0.12	1
CHONDROITIN SULFATE	0.48	1
CHONDROITIN SULFATE A	0.66	1
CHONDROITIN SULFATE C	2.16	1
CHONDROITIN SULFATE D	0.5	1
HYALURONIC ACID	0.0009	1
HYALURONIC ACID FROM STREPTOCOCCUS PYOGENES (35	49.3	1

UniProt features (16 total): disulfide bond 5, splice variant 3, glycosylation site 2, signal peptide 1, chain 1, sequence variant 1, sequence conflict 1, domain 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43820-F1	91.91	0.85

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): 129 (proton donor)

Disulfide bonds (5): 397–406, 42–331, 205–220, 356–367, 361–395

Glycosylation sites (2): 69, 215

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-2024101	CS/DS degradation
R-HSA-2160916	Hyaluronan degradation

MSigDB gene sets: 194 (showing top): GOBP_SINGLE_FERTILIZATION, GOBP_POSITIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_POSITIVE_REGULATION_OF_CALCIUM_ION_DEPENDENT_EXOCYTOSIS, GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_CELLULAR_RESPONSE_TO_UV, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, GOCC_SECRETORY_GRANULE, GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, GOBP_HYALURONAN_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, MODULE_511, GOBP_REGULATION_OF_EXOCYTOSIS

GO Biological Process (14): ovarian follicle atresia (GO:0001552), carbohydrate metabolic process (GO:0005975), inflammatory response (GO:0006954), penetration of zona pellucida (GO:0007341), response to virus (GO:0009615), hyaluronan catabolic process (GO:0030214), response to antibiotic (GO:0046677), cartilage development (GO:0051216), cellular response to interleukin-1 (GO:0071347), cellular response to tumor necrosis factor (GO:0071356), cellular response to UV-B (GO:0071493), negative regulation of ovarian follicle development (GO:2000355), positive regulation of acrosomal vesicle exocytosis (GO:2000368), single fertilization (GO:0007338)

GO Molecular Function (5): hyalurononglucosaminidase activity (GO:0004415), hyaluronoglucuronidase activity (GO:0033906), protein binding (GO:0005515), hydrolase activity (GO:0016787), hydrolase activity, acting on glycosyl bonds (GO:0016798)

GO Cellular Component (11): acrosomal vesicle (GO:0001669), acrosomal membrane (GO:0002080), extracellular region (GO:0005576), lysosome (GO:0005764), early endosome (GO:0005769), endoplasmic reticulum (GO:0005783), plasma membrane (GO:0005886), cytoplasmic vesicle (GO:0031410), sperm midpiece (GO:0097225), endosome (GO:0005768), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Chondroitin sulfate/dermatan sulfate metabolism	1
Hyaluronan metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cellular response to cytokine stimulus	2
cytoplasm	2
endomembrane system	2
developmental process involved in reproduction	1
female gonad development	1
extrinsic apoptotic signaling pathway	1
primary metabolic process	1
defense response	1
single fertilization	1
multi-multicellular organism process	1
multicellular organismal reproductive process	1
response to other organism	1
glycosaminoglycan catabolic process	1
hyaluronan metabolic process	1
response to chemical	1
skeletal system development	1
animal organ development	1
connective tissue development	1
response to interleukin-1	1
response to tumor necrosis factor	1
response to UV-B	1
cellular response to UV	1
ovarian follicle development	1
negative regulation of developmental process	1
regulation of ovarian follicle development	1
positive regulation of calcium ion-dependent exocytosis	1
acrosomal vesicle exocytosis	1
positive regulation of reproductive process	1
regulation of acrosomal vesicle exocytosis	1
fertilization	1
hexosaminidase activity	1
glucuronidase activity	1
binding	1
catalytic activity	1
hydrolase activity	1
secretory granule	1
acrosomal vesicle	1
secretory granule membrane	1
lytic vacuole	1

Protein interactions and networks

STRING

1439 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HYAL3	SPAG9	O60271	891
HYAL3	HAS3	O00219	520
HYAL3	HAS2	Q92819	455
HYAL3	HAS1	Q92839	432
HYAL3	CD44	P16070	421
HYAL3	CYB561D2	O14569	349
HYAL3	ACAN	P16112	340
HYAL3	THTPA	Q9BU02	309
HYAL3	EGF	P01133	305
HYAL3	IFRD2	Q12894	279
HYAL3	GJB1	P08034	268
HYAL3	GAPDH	P00354	264
HYAL3	ERG28	Q9UKR5	263
HYAL3	NOG	Q13253	262
HYAL3	ACR	P10323	259

IntAct

14 interactions, top by confidence:

A	B	Type	Score
DAB1	HYAL3	psi-mi:“MI:0915”(physical association)	0.560
HYAL3	DAB1	psi-mi:“MI:0915”(physical association)	0.560
HYAL3	BOLL	psi-mi:“MI:0915”(physical association)	0.560
HYAL3	CAMK2A	psi-mi:“MI:0915”(physical association)	0.560
HYAL3	SLC22A2	psi-mi:“MI:0915”(physical association)	0.370
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
HYAL3	CANX	psi-mi:“MI:0914”(association)	0.350
HYAL3	CLGN	psi-mi:“MI:0914”(association)	0.350
HYAL3	BOLL	psi-mi:“MI:0915”(physical association)	0.000
HYAL3	CAMK2A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (12): HYAL3 (Two-hybrid), PTER (Affinity Capture-MS), CANX (Affinity Capture-MS), HYAL3 (Two-hybrid), HYAL3 (Two-hybrid), CANX (Affinity Capture-MS), PTER (Affinity Capture-MS), CLGN (Affinity Capture-MS), HYAL3 (Proximity Label-MS), HYAL3 (Proximity Label-MS), HYAL3 (Affinity Capture-RNA), SLC22A2 (Two-hybrid)

ESM2 similar proteins: O14773, O35632, O43820, O75173, O77835, O88839, O95479, P01231, P01232, P18842, P26010, P56201, Q0V8J4, Q0VD19, Q12794, Q12891, Q13444, Q32M88, Q49HH9, Q49KI5, Q5E985, Q5IS74, Q5REQ1, Q5RFL1, Q5RFQ8, Q60HH1, Q6MG64, Q6RHW2, Q6RHW4, Q717C1, Q717C2, Q76HM9, Q76HN1, Q7RTX0, Q8BNJ2, Q8HZR9, Q8SQG7, Q8SQG8, Q8VEI3, Q8WN18

Diamond homologs: A3QVN2, A3QVN3, A3QVN4, A3QVN5, A3QVN6, A3QVN9, A3QVP0, B3EWP2, C0HLL4, C0HLL5, E0XKJ9, G5ECE8, I0CME8, J3S820, O35632, O43820, P23613, P38566, P38567, P38568, P48794, P49370, P49371, P85841, P86100, P86687, P86875, Q05A56, Q08169, Q12794, Q12891, Q2M3T9, Q5D7H4, Q5E985, Q5REQ1, Q62803, Q6RHW2, Q6RHW4, Q76HM9, Q76HN1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	116
Likely benign	14
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1069 predictions. Top by Δscore:

Variant	Effect	Δscore
3:50293511:TCCTC:T	acceptor_gain	1.0000
3:50293512:CCTCC:C	acceptor_gain	1.0000
3:50293513:CTC:C	acceptor_gain	1.0000
3:50293514:TC:T	acceptor_gain	1.0000
3:50293515:CC:C	acceptor_gain	1.0000
3:50293515:CCT:C	acceptor_loss	1.0000
3:50293516:C:CC	acceptor_gain	1.0000
3:50293517:T:G	acceptor_loss	1.0000
3:50299211:A:AC	donor_gain	1.0000
3:50299212:C:CC	donor_gain	1.0000
3:50293516:C:T	acceptor_gain	0.9900
3:50294704:CTTA:C	donor_loss	0.9900
3:50294705:TTACC:T	donor_loss	0.9900
3:50294706:TA:T	donor_loss	0.9900
3:50294707:A:AC	donor_gain	0.9900
3:50294708:C:CC	donor_gain	0.9900
3:50299207:A:AC	donor_gain	0.9900
3:50299208:C:CC	donor_gain	0.9900
3:50296892:CCCAG:C	donor_gain	0.9800
3:50299212:CATG:C	donor_gain	0.9800
3:50296284:T:TA	donor_gain	0.9700
3:50296288:C:CA	donor_gain	0.9700
3:50299212:CA:C	donor_gain	0.9700
3:50294708:CCT:C	donor_gain	0.9600
3:50299061:T:TA	donor_gain	0.9600
3:50299204:GGTAC:G	donor_loss	0.9600
3:50299207:ACT:A	donor_loss	0.9600
3:50299208:CTG:C	donor_loss	0.9600
3:50299209:TGACA:T	donor_loss	0.9600
3:50299210:GA:G	donor_loss	0.9600

AlphaMissense

2698 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:50295084:A:C	F173L	0.976
3:50295084:A:T	F173L	0.976
3:50295086:A:G	F173L	0.976
3:50293692:A:C	S308R	0.963
3:50293692:A:T	S308R	0.963
3:50293694:T:G	S308R	0.963
3:50295500:A:G	W35R	0.957
3:50295500:A:T	W35R	0.957
3:50295510:G:C	F31L	0.957
3:50295510:G:T	F31L	0.957
3:50295512:A:G	F31L	0.957
3:50295498:C:A	W35C	0.944
3:50295498:C:G	W35C	0.944
3:50293321:G:C	F393L	0.941
3:50293321:G:T	F393L	0.941
3:50293323:A:G	F393L	0.941
3:50295243:A:C	F120L	0.941
3:50295243:A:T	F120L	0.941
3:50295245:A:G	F120L	0.941
3:50295511:A:C	F31C	0.936
3:50295212:A:G	W131R	0.935
3:50295212:A:T	W131R	0.935
3:50293418:C:G	C361S	0.930
3:50293419:A:T	C361S	0.930
3:50295006:G:C	F199L	0.930
3:50295006:G:T	F199L	0.930
3:50295008:A:G	F199L	0.930
3:50295014:A:G	W197R	0.929
3:50295014:A:T	W197R	0.929
3:50295433:A:G	I57T	0.920

dbSNP variants (sampled 300 via entrez): RS1000264872 (3:50298681 C>A,T), RS1001823111 (3:50299658 C>T), RS1002294456 (3:50294356 C>G), RS1002895615 (3:50296517 G>C,T), RS1003234185 (3:50295093 A>G), RS1003761596 (3:50301184 G>A), RS1006278239 (3:50299444 C>A,G), RS1006448494 (3:50293563 G>C), RS1006828169 (3:50293348 G>A), RS1007115711 (3:50296278 C>A,T), RS1009600554 (3:50294440 G>A,T), RS1010347616 (3:50292925 G>A,T), RS1010410898 (3:50299075 C>G), RS1010488543 (3:50292662 T>A,C,G), RS1011016729 (3:50295698 G>A,T)

Disease associations

OMIM: gene MIM:604038 | disease phenotypes: MIM:620830

GenCC curated gene-disease

Mondo (1): auroneurodental syndrome (MONDO:0970998)

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST003795_3	Age at first birth	5.000000e-15
GCST004946_204	Schizophrenia	3.000000e-08
GCST006044_2	Age at first birth	2.000000e-06
GCST006045_5	Age at first birth	6.000000e-10
GCST007559_24	Sleep duration (short sleep)	3.000000e-08
GCST008129_41	Body mass index	9.000000e-26
GCST90002379_40	Basophil count	1.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0009101	age at first birth measurement
EFO:0004340	body mass index
EFO:0005090	basophil count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	decreases expression, increases activity, affects binding	1
bisphenol A	increases methylation, affects cotreatment	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	affects expression	1
butyraldehyde	increases expression	1
pyrrolidine dithiocarbamic acid	affects cotreatment, increases expression	1
bathocuproine sulfonate	increases expression, affects cotreatment	1
ferrous chloride	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
inotodiol	decreases reaction, increases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Temozolomide	increases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Vehicle Emissions	increases abundance, increases expression	1
Cisplatin	increases expression	1
Hydrogen Peroxide	affects expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Aflatoxin B1	decreases expression	1
Okadaic Acid	increases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	increases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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