SPON2

Summary

SPON2 (spondin 2, HGNC:11253) is a protein-coding gene on chromosome 4p16.3, encoding Spondin-2 (Q9BUD6). Cell adhesion protein that promotes adhesion and outgrowth of hippocampal embryonic neurons.

Predicted to enable antigen binding activity; lipopolysaccharide binding activity; and metal ion binding activity. Predicted to be involved in cell adhesion. Predicted to act upstream of or within several processes, including defense response to other organism; opsonization; and positive regulation of cytokine production. Located in extracellular exosome. Biomarker of meningioma.

Source: NCBI Gene 10417 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 88 total
• MANE Select transcript: NM_012445

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11253
Approved symbol	SPON2
Name	spondin 2
Location	4p16.3
Locus type	gene with protein product
Status	Approved
Aliases	DIL1
Ensembl gene	ENSG00000159674
Ensembl biotype	protein_coding
OMIM	605918
Entrez	10417

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 14 protein_coding, 7 protein_coding_CDS_not_defined, 5 retained_intron

ENST00000290902, ENST00000400762, ENST00000431380, ENST00000502483, ENST00000502657, ENST00000503765, ENST00000504871, ENST00000504909, ENST00000505653, ENST00000506266, ENST00000507466, ENST00000509233, ENST00000509697, ENST00000510542, ENST00000511672, ENST00000511679, ENST00000512150, ENST00000512888, ENST00000514490, ENST00000515004, ENST00000515553, ENST00000617421, ENST00000889071, ENST00000960395, ENST00000960396, ENST00000960397

RefSeq mRNA: 3 — MANE Select: NM_012445 NM_001128325, NM_001199021, NM_012445

Canonical transcript exons

ENST00000290902 — 6 exons

Exon	Start	End
ENSE00003993321	1171263	1171486
ENSE00003993329	1171852	1172074
ENSE00003993332	1170402	1170576
ENSE00003993335	1166932	1167656
ENSE00003993339	1172544	1172583
ENSE00003993347	1170999	1171190

Expression profiles

Bgee: expression breadth ubiquitous, 268 present calls, max score 99.24.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.6475 / max 1564.1189, expressed in 1064 samples.

FANTOM5 promoters (16 alternative TSS)

Promoter ID	TPM avg	Samples expressed
51055	29.8169	898
51056	3.9671	517
51057	1.5687	405
51047	0.6618	228
51061	0.3146	101
51046	0.2914	135
51065	0.2031	76
51058	0.1786	93
51067	0.1439	64
51048	0.1258	66

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	99.24	gold quality
decidua	UBERON:0002450	99.13	gold quality
endocervix	UBERON:0000458	98.78	gold quality
body of uterus	UBERON:0009853	98.73	gold quality
myometrium	UBERON:0001296	98.22	gold quality
mucosa of stomach	UBERON:0001199	98.12	gold quality
left uterine tube	UBERON:0001303	97.46	gold quality
type B pancreatic cell	CL:0000169	97.23	gold quality
small intestine Peyer’s patch	UBERON:0003454	97.16	gold quality
right lobe of liver	UBERON:0001114	96.90	gold quality
right uterine tube	UBERON:0001302	96.62	gold quality
tongue squamous epithelium	UBERON:0006919	96.60	gold quality
stromal cell of endometrium	CL:0002255	96.57	gold quality
right lung	UBERON:0002167	96.52	gold quality
ectocervix	UBERON:0012249	96.38	gold quality
upper lobe of lung	UBERON:0008948	96.04	gold quality
upper lobe of left lung	UBERON:0008952	96.04	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.97	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.91	gold quality
small intestine	UBERON:0002108	95.63	gold quality
transverse colon	UBERON:0001157	95.59	gold quality
fundus of stomach	UBERON:0001160	95.59	gold quality
prostate gland	UBERON:0002367	95.47	gold quality
urethra	UBERON:0000057	95.44	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	94.96	gold quality
body of stomach	UBERON:0001161	94.95	gold quality
smooth muscle tissue	UBERON:0001135	94.94	gold quality
cerebellar hemisphere	UBERON:0002245	94.91	gold quality
cerebellar cortex	UBERON:0002129	94.77	gold quality
pylorus	UBERON:0001166	94.55	gold quality

Single-cell (SCXA)

Detected in 22 experiment(s), a significant marker in 21.

Experiment	Marker?	Max mean expression
E-MTAB-6653	yes	2016.95
E-CURD-55	yes	1617.03
E-GEOD-139324	yes	1352.51
E-MTAB-9906	yes	1344.01
E-GEOD-149689	yes	1196.04
E-MTAB-10290	yes	1062.54
E-HCAD-4	yes	151.65
E-MTAB-6701	yes	126.30
E-MTAB-10287	yes	122.71
E-HCAD-1	yes	119.39
E-CURD-122	yes	67.53
E-MTAB-8410	yes	63.66
E-MTAB-9467	yes	58.03
E-HCAD-11	yes	42.36
E-MTAB-6678	yes	27.14

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

22 targeting SPON2, 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-12118	100.00	65.88	1270
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-4802-3P	99.72	70.13	1273
HSA-MIR-4756-3P	99.62	66.30	1319
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-32-3P	99.36	68.20	2517
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-92A-1-5P	98.28	64.51	631
HSA-MIR-296-5P	97.61	64.02	851
HSA-MIR-4485-5P	95.91	59.69	198

Literature-anchored findings (GeneRIF, showing 24)

• The structure of the F-spondin domain of mindin was determined at 1.8-A resolution. (PMID:19153605)
• Spondin 2, which is regulated by T(3), has an important role in cell invasion, cell migration, and hepatoma tumor progression. (PMID:19903741)
• High Mindin is associated with diabetic nephropathy in type 2 diabetes. (PMID:21098016)
• mindin serves as a novel mediator that protects against cardiac hypertrophy and the transition to heart failure by blocking AKT/GSK3beta and TGF-beta1-Smad signalling. (PMID:21632881)
• Using tissue microarray by immunohistostaining, we found SPON2 to be over-expressed in prostate cancer (PCa). SPON2 staining was more intense in Gleason score sum 7-8 and in PCa patients with metastasis. (PMID:22615945)
• Mindin protects against vascular hyperplasia by suppression of abnormal VSMC proliferation, migration and phenotypic switching in an AKT-dependent manner. (PMID:25751394)
• Data suggest that spondin-2 could be an independent diagnostic and prognostic biomarker of colon cancer. (PMID:25945835)
• SPON2 is a transcriptional target of the metastasis gene MACC1. SPON2 induces cell motility in vitro and CRC metastasis in mice. In patients, SPON2 serves as prognostic indicator for CRC metastasis and survival, and might represent a promising target for therapeutic approaches. (PMID:26686083)
• Spondin-2 overexpression contributes to tumor aggressiveness and prognosis in gastric cancer. (PMID:28060752)
• Egr-1 regulates mindin expression by directly binding to the mindin promoter; mindin suppresses colon cancer progression by blocking angiogenesis. (PMID:28991232)
• Matricellular protein SPON2 acts as an HCC suppressor and utilizes distinct signaling events to perform dual functions in HCC microenvironment (PMID:29440144)
• High SPON2 expression is associated with hepatocellular carcinoma. (PMID:30318967)
• spondin-2 might be a novel therapeutic target and prognostic biomarker for squamous cell carcinoma patients (PMID:30527359)
• Study identified the extracelular matrix protein mindin in the secretome of prostate adenocarcinoma cells and show that mindin overexpression in human and mouse TRAMP-C1-induced prostate tumors correlates with upregulated levels of bone-related genes in the tumorigenic prostate tissues. Mindin silencing decreased osteomimicry in adenocarcinoma cells and in the prostate tumor mice model. (PMID:31168562)
• Spondin 2 promotes the proliferation, migration and invasion of gastric cancer cells. (PMID:31691494)
• PIK3AP1 and SPON2 Genes Are Differentially Methylated in Patients With Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) Syndrome. (PMID:32793186)
• Overexpression of Spondin-2 Is Associated with Recurrence-Free Survival in Patients with Localized Clear Cell Renal Cell Carcinoma. (PMID:32952742)
• The clinical significance of spondin 2 eccentric expression in peripheral blood mononuclear cells in bronchial asthma. (PMID:33998076)
• Cancer-associated Fibroblast-derived Spondin-2 Promotes Motility of Gastric Cancer Cells. (PMID:34183385)
• Tumor cell-derived SPON2 promotes M2-polarized tumor-associated macrophage infiltration and cancer progression by activating PYK2 in CRC. (PMID:34583750)
• SPON2 promotes the bone metastasis of lung adenocarcinoma via activation of the NF-kappaB signaling pathway. (PMID:36427776)
• Prostate cancer cellderived spondin 2 boosts osteogenic factor levels in osteoblasts via the PI3K/AKT/mTOR pathway. (PMID:36484410)
• In situ assessment of Mindin as a biomarker of podocyte lesions in diabetic nephropathy. (PMID:37130106)
• Comprehensive analysis of the oncogenic and immunological role of SPON2 in human tumors. (PMID:37713832)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	spon2b	ENSDARG00000002732
mus_musculus	Spon2	ENSMUSG00000037379
rattus_norvegicus	Spon2	ENSRNOG00000006033

Paralogs (3): THSD7A (ENSG00000005108), THSD7B (ENSG00000144229), SPON1 (ENSG00000262655)

Protein

Protein identifiers

Spondin-2 — Q9BUD6 (reviewed: Q9BUD6)

Alternative names: Differentially expressed in cancerous and non-cancerous lung cells 1, Mindin

All UniProt accessions (8): Q9BUD6, A0A1Y8ELY7, D6RA41, D6RB12, D6RBY3, D6REX2, D6RFY9, D6RIH5

UniProt curated annotations — full annotation on UniProt →

Function. Cell adhesion protein that promotes adhesion and outgrowth of hippocampal embryonic neurons. Binds directly to bacteria and their components and functions as an opsonin for macrophage phagocytosis of bacteria. Essential in the initiation of the innate immune response and represents a unique pattern-recognition molecule in the ECM for microbial pathogens. Binds bacterial lipopolysaccharide (LPS).

Subunit / interactions. Monomer. Interacts with integrin.

Subcellular location. Secreted. Extracellular space. Extracellular matrix.

Tissue specificity. Expressed in normal lung tissue but not in lung carcinoma cell lines.

RefSeq proteins (3): NP_001121797, NP_001185950, NP_036577* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000884	TSP1_rpt	Repeat
IPR009465	Spondin_N	Domain
IPR036383	TSP1_rpt_sf	Homologous_superfamily
IPR038678	Spondin_N_sf	Homologous_superfamily
IPR044004	TSP1_spondin_dom	Domain
IPR051418	Spondin/Thrombospondin_T1	Family

Pfam: PF06468, PF19028

UniProt features (33 total): strand 13, sequence variant 4, binding site 4, mutagenesis site 2, domain 2, helix 2, signal peptide 1, chain 1, disulfide bond 1, turn 1, site 1, glycosylation site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3D34	X-RAY DIFFRACTION	1.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BUD6-F1	88.47	0.79

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): 141 (important for metal ion-dependent interaction with integrin)

Ligand- & substrate-binding residues (4): 141; 160; 188; 192

Disulfide bonds (1): 35–171

Glycosylation sites (1): 283

Mutagenesis-validated functional residues (2):

Position	Phenotype
42	strongly reduced metal-dependent interaction with integrin; when associated with a-141.
141	strongly reduced metal-dependent interaction with integrin; when associated with a-42.

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-5083635	Defective B3GALTL causes PpS
R-HSA-5173214	O-glycosylation of TSR domain-containing proteins
R-HSA-1643685	Disease
R-HSA-3781865	Diseases of glycosylation
R-HSA-3906995	Diseases associated with O-glycosylation of proteins
R-HSA-392499	Metabolism of proteins
R-HSA-5173105	O-linked glycosylation
R-HSA-5668914	Diseases of metabolism
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 214 (showing top): BENPORATH_ES_WITH_H3K27ME3, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION_INVOLVED_IN_IMMUNE_RESPONSE, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_POSITIVE_REGULATION_OF_TUMOR_NECROSIS_FACTOR_SUPERFAMILY_CYTOKINE_PRODUCTION, ONKEN_UVEAL_MELANOMA_UP, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, MARTINEZ_RB1_TARGETS_DN

GO Biological Process (14): mast cell mediated immunity (GO:0002448), cell adhesion (GO:0007155), opsonization (GO:0008228), positive regulation of interleukin-6 production (GO:0032755), positive regulation of tumor necrosis factor production (GO:0032760), induction of bacterial agglutination (GO:0043152), innate immune response (GO:0045087), defense response to fungus (GO:0050832), defense response to virus (GO:0051607), positive regulation of macrophage cytokine production (GO:0060907), cellular response to lipopolysaccharide (GO:0071222), immune system process (GO:0002376), response to lipopolysaccharide (GO:0032496), defense response to bacterium (GO:0042742)

GO Molecular Function (4): lipopolysaccharide binding (GO:0001530), antigen binding (GO:0003823), metal ion binding (GO:0046872), protein binding (GO:0005515)

GO Cellular Component (4): extracellular matrix (GO:0031012), extracellular exosome (GO:0070062), extracellular region (GO:0005576), obsolete extracellular space (GO:0005615)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
Diseases associated with O-glycosylation of proteins	1
O-linked glycosylation	1
Diseases of metabolism	1
Diseases of glycosylation	1
Post-translational protein modification	1
Disease	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
defense response	3
binding	2
myeloid leukocyte mediated immunity	1
cellular process	1
immune effector process	1
phagocytosis, recognition	1
positive regulation of cytokine production	1
interleukin-6 production	1
regulation of interleukin-6 production	1
tumor necrosis factor production	1
regulation of tumor necrosis factor production	1
positive regulation of tumor necrosis factor superfamily cytokine production	1
antibacterial humoral response	1
immune response	1
defense response to symbiont	1
response to fungus	1
response to virus	1
macrophage cytokine production	1
regulation of macrophage cytokine production	1
positive regulation of myeloid leukocyte cytokine production involved in immune response	1
response to lipopolysaccharide	1
cellular response to molecule of bacterial origin	1
cellular response to lipid	1
cellular response to oxygen-containing compound	1
biological_process	1
response to molecule of bacterial origin	1
response to lipid	1
response to oxygen-containing compound	1
response to bacterium	1
lipid binding	1
carbohydrate derivative binding	1
cation binding	1
external encapsulating structure	1
extracellular vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

998 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SPON2	TPX2	Q9ULW0	817
SPON2	LAMA2	P24043	572
SPON2	SOX13	Q9UN79	524
SPON2	ITGA4	P13612	515
SPON2	ITGB1	P05556	466
SPON2	IL1A	P01583	446
SPON2	ADAM19	Q9H013	427
SPON2	THY1	P04216	406
SPON2	WIF1	Q9Y5W5	399
SPON2	TLR4	O00206	397
SPON2	TBL1X	O60907	393
SPON2	TXLNG	Q9NUQ3	392
SPON2	FGFBP2	Q9BYJ0	390
SPON2	DYSF	O75923	385
SPON2	MATK	P42679	383

IntAct

20 interactions, top by confidence:

A	B	Type	Score
KRT31	SPON2	psi-mi:“MI:0915”(physical association)	0.720
SPON2	KRT31	psi-mi:“MI:0915”(physical association)	0.720
SPON2	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.560
SPON2	ATN1	psi-mi:“MI:0915”(physical association)	0.560
SPON2	KLK6	psi-mi:“MI:0915”(physical association)	0.560
SPON2	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400
SPON2	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
SPON2	H2BC21	psi-mi:“MI:0915”(physical association)	0.400
SPON2	HIST2H2BF	psi-mi:“MI:0915”(physical association)	0.400
SPON2	KRT31	psi-mi:“MI:0915”(physical association)	0.000
SPON2	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (11): SPON2 (Two-hybrid), SPON2 (Affinity Capture-RNA), SPON2 (Two-hybrid), PLEKHF2 (Two-hybrid), SPON2 (Proximity Label-MS), SPON2 (Proximity Label-MS), SPON2 (Proximity Label-MS), SPON2 (Proximity Label-MS), SPON2 (Positive Genetic), SPON2 (Affinity Capture-RNA), SPON2 (Affinity Capture-MS)

ESM2 similar proteins: A2ARP1, A2VDZ5, A7SAZ1, B4K4M0, B4LZT9, D3Z7H8, O00562, O08721, O08722, O14976, O35954, O75460, P0C644, P52802, Q2TA35, Q3SZL5, Q3V1T4, Q4KLM6, Q5RCC0, Q5U2N3, Q5XI31, Q5XIL0, Q5ZLK8, Q68J42, Q6AY64, Q6DIW0, Q6JHU7, Q6NZZ3, Q6PD26, Q6ZN44, Q7T2Z5, Q7Z4R8, Q8BH02, Q8CG71, Q8IUL8, Q8IVL5, Q8IZJ1, Q8K1S3, Q8K1S4, Q8N159

Diamond homologs: A7MBS7, B3EWY9, B3EWZ8, Q1RMU1, Q2MKA7, Q3UPR9, Q5R328, Q5R7Y0, Q69Z28, Q69ZU6, Q6P4U0, Q8BMS2, Q8IVN8, Q8TE57, Q9BUD6, Q9C0I4, Q9UPZ6, Q9WV75, Q9Z132, A2VE04, C5IAW9, D3YXG0, E9Q6D8, F1LW30, G5ECS8, O08721, O08747, O60241, O60242, O95185, P07996, P11680, P27918, P35440, P35441, P35442, P35446, P35447, P48770, P59384

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	70
Likely benign	5
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

2031 predictions. Top by Δscore:

Variant	Effect	Δscore
4:1170995:TCAC:T	donor_loss	1.0000
4:1170996:CAC:C	donor_loss	1.0000
4:1170997:A:AC	donor_gain	1.0000
4:1170998:C:CC	donor_gain	1.0000
4:1170998:C:CT	donor_loss	1.0000
4:1170998:CCT:C	donor_gain	1.0000
4:1167657:C:CC	acceptor_gain	0.9900
4:1167663:C:CT	acceptor_gain	0.9900
4:1167664:A:T	acceptor_gain	0.9900
4:1170082:T:TA	donor_gain	0.9900
4:1170396:CGTTA:C	donor_loss	0.9900
4:1170397:GTTAC:G	donor_loss	0.9900
4:1170398:TTACC:T	donor_loss	0.9900
4:1170399:TA:T	donor_loss	0.9900
4:1170400:ACCTG:A	donor_loss	0.9900
4:1170401:C:G	donor_loss	0.9900
4:1170572:GTTAT:G	acceptor_gain	0.9900
4:1170574:TAT:T	acceptor_gain	0.9900
4:1170576:TC:T	acceptor_loss	0.9900
4:1170577:C:CA	acceptor_loss	0.9900
4:1170577:C:CC	acceptor_gain	0.9900
4:1170578:T:G	acceptor_loss	0.9900
4:1170997:AC:A	donor_gain	0.9900
4:1170998:CC:C	donor_gain	0.9900
4:1171189:ACC:A	acceptor_loss	0.9900
4:1171191:C:CA	acceptor_loss	0.9900
4:1171285:T:TA	donor_gain	0.9900
4:1171413:C:CT	acceptor_gain	0.9900
4:1172707:C:CT	acceptor_gain	0.9900
4:1172708:G:C	acceptor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000124113 (4:1203125 G>A), RS1000231576 (4:1178687 GT>G,GTT), RS1000254855 (4:1186046 C>A,T), RS1000437332 (4:1201651 C>T), RS1000470940 (4:1209602 C>T), RS1000485300 (4:1192010 C>A,T), RS1000489498 (4:1201776 G>A,C), RS1000517803 (4:1170062 C>A,G,T), RS1000549096 (4:1170285 G>T), RS1000580979 (4:1205559 C>A), RS1000618897 (4:1187130 G>A), RS1000669699 (4:1186786 A>G), RS1000686125 (4:1180682 G>A), RS1000710628 (4:1209341 C>T), RS1000754095 (4:1175271 C>T)

Disease associations

OMIM: gene MIM:605918 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST000148_1	Recombination rate (males)	3.000000e-24
GCST000149_1	Recombination rate (females)	2.000000e-12
GCST006585_1379	Blood protein levels	2.000000e-16

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004863	recombination rate

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases methylation, affects cotreatment, decreases expression	6
Benzo(a)pyrene	decreases expression, affects expression, affects methylation, increases expression	5
Acetaminophen	increases expression, decreases expression	4
bisphenol A	increases expression	3
Tobacco Smoke Pollution	decreases expression, increases expression	3
Cyclosporine	decreases expression	3
ochratoxin A	increases expression, increases acetylation	2
Lipopolysaccharides	increases expression, decreases expression, affects response to substance	2
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Silicon Dioxide	decreases expression, increases expression	2
Smoke	decreases expression, increases abundance, increases expression	2
Tetrachlorodibenzodioxin	affects expression, decreases expression	2
Tretinoin	decreases expression, increases expression	2
Cadmium Chloride	decreases expression, increases expression	2
aristolochic acid I	increases expression	1
afuresertib	increases expression	1
bisphenol F	affects cotreatment, increases methylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	decreases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
sulforaphane	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
perfluorooctanoic acid	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
pentanal	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
acyline	decreases expression	1

Clinical trials (associated diseases)

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