THSD7B

Summary

THSD7B (thrombospondin type 1 domain containing 7B, HGNC:29348) is a protein-coding gene on chromosome 2q22.1, encoding Thrombospondin type-1 domain-containing protein 7B (Q9C0I4).

Predicted to be involved in actin cytoskeleton organization. Predicted to be located in membrane. Predicted to be active in plasma membrane.

Source: NCBI Gene 80731 — RefSeq curated summary.

At a glance

• GWAS associations: 26
• Clinical variants (ClinVar): 267 total
• MANE Select transcript: NM_001316349

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29348
Approved symbol	THSD7B
Name	thrombospondin type 1 domain containing 7B
Location	2q22.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1679
Ensembl gene	ENSG00000144229
Ensembl biotype	protein_coding
Entrez	80731

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 1 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000409968, ENST00000472720, ENST00000480352, ENST00000485379

RefSeq mRNA: 1 — MANE Select: NM_001316349 NM_001316349

CCDS: CCDS82515

Canonical transcript exons

ENST00000409968 — 28 exons

Exon	Start	End
ENSE00000964126	137056420	137057230
ENSE00000995382	137563221	137563354
ENSE00001071669	137450845	137451023
ENSE00001586805	136765545	136765687
ENSE00001593822	137657065	137657160
ENSE00001610289	137616175	137616316
ENSE00001622385	137170741	137170938
ENSE00001641936	137618392	137618507
ENSE00001644614	137656796	137656969
ENSE00001655958	137115124	137115293
ENSE00001673333	137411609	137411872
ENSE00001673443	137231044	137231235
ENSE00001695416	137572406	137572556
ENSE00001724940	137272533	137272662
ENSE00001727792	137275923	137276026
ENSE00001736345	137620609	137620726
ENSE00001763099	137242457	137242572
ENSE00001763906	137663383	137663575
ENSE00001771982	137655501	137655660
ENSE00001781228	137232899	137233133
ENSE00001787956	137642488	137642633
ENSE00001798035	137405613	137405807
ENSE00001798124	137667774	137667861
ENSE00002303675	137094873	137095121
ENSE00003419666	136882144	136882317
ENSE00003558062	137659664	137659746
ENSE00003613799	137160213	137160368
ENSE00003841995	137676524	137677718

Expression profiles

Bgee: expression breadth ubiquitous, 151 present calls, max score 79.65.

FANTOM5 (CAGE): breadth broad, TPM avg 0.6758 / max 186.5793, expressed in 235 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
22706	0.4712	187
22708	0.0940	35
22705	0.0556	21
22707	0.0550	19

Top tissues by expression

239 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	79.65	gold quality
pigmented layer of retina	UBERON:0001782	69.62	gold quality
cortical plate	UBERON:0005343	69.62	gold quality
oviduct epithelium	UBERON:0004804	69.53	gold quality
descending thoracic aorta	UBERON:0002345	66.48	gold quality
thoracic aorta	UBERON:0001515	64.82	gold quality
ascending aorta	UBERON:0001496	64.62	gold quality
tibia	UBERON:0000979	64.20	gold quality
ganglionic eminence	UBERON:0004023	63.36	gold quality
calcaneal tendon	UBERON:0003701	63.25	gold quality
visceral pleura	UBERON:0002401	63.07	gold quality
ventricular zone	UBERON:0003053	63.01	gold quality
parietal pleura	UBERON:0002400	62.56	gold quality
adipose tissue	UBERON:0001013	62.08	gold quality
buccal mucosa cell	CL:0002336	61.69	silver quality
sural nerve	UBERON:0015488	61.49	silver quality
adipose tissue of abdominal region	UBERON:0007808	60.95	gold quality
omental fat pad	UBERON:0010414	60.77	gold quality
peritoneum	UBERON:0002358	60.74	gold quality
subcutaneous adipose tissue	UBERON:0002190	59.75	gold quality
pons	UBERON:0000988	59.35	silver quality
secondary oocyte	CL:0000655	59.20	gold quality
endothelial cell	CL:0000115	59.14	gold quality
aorta	UBERON:0000947	58.40	gold quality
hindlimb stylopod muscle	UBERON:0004252	56.99	gold quality
pancreatic ductal cell	CL:0002079	56.68	silver quality
corpus epididymis	UBERON:0004359	56.46	silver quality
prefrontal cortex	UBERON:0000451	55.85	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	55.60	gold quality
tibial nerve	UBERON:0001323	55.46	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.18

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

110 targeting THSD7B, 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-340-5P	100.00	72.50	4437
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
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-4666A-3P	99.96	71.71	3434
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-548J-3P	99.94	72.61	4881
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
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-219A-5P	99.91	73.36	735
HSA-MIR-329-3P	99.91	66.56	1234
HSA-MIR-362-3P	99.91	66.38	1267
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-4782-3P	99.88	73.31	735

Literature-anchored findings (GeneRIF, showing 2)

• Several flanking SNPs of the top hits in the meta-analysis demonstrated borderline associations with alcohol dependence in the family sample for KIAA0040, NRD1 and THSD7B, respectively. (PMID:21703634)
• THSD7B Mutation Induces Platinum Resistance in Small Cell Lung Cancer Patients. (PMID:35685767)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	thsd7ba	ENSDARG00000095022
mus_musculus	Thsd7b	ENSMUSG00000042581
rattus_norvegicus	Thsd7b	ENSRNOG00000003878

Paralogs (3): THSD7A (ENSG00000005108), SPON2 (ENSG00000159674), SPON1 (ENSG00000262655)

Protein

Protein identifiers

Thrombospondin type-1 domain-containing protein 7B — Q9C0I4 (reviewed: Q9C0I4)

All UniProt accessions (2): Q9C0I4, R4GMU2

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (1): NP_001303278* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000884	TSP1_rpt	Repeat
IPR036383	TSP1_rpt_sf	Homologous_superfamily
IPR044004	TSP1_spondin_dom	Domain
IPR051418	Spondin/Thrombospondin_T1	Family
IPR056991	TSP1_TSH7A-B_C	Domain

Pfam: PF00090, PF19028, PF19030, PF23308

UniProt features (63 total): disulfide bond 24, domain 18, glycosylation site 11, sequence conflict 3, topological domain 2, signal peptide 1, chain 1, region of interest 1, compositionally biased region 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9C0I4-F1	67.23	0.00

Functional residue map

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

Disulfide bonds (24): 411–477, 431–481, 442–466, 602–643, 613–617, 655–660, 738–779, 749–753, 789–795, 872–907, 883–887, 921–923, 937–993, 959–997, 970–983, 1001–1038, 1012–1016, 1120–1124, 1248–1286, 1259–1263 …

Glycosylation sites (11): 150, 190, 219, 683, 757, 842, 933, 1186, 1308, 1456, 1524

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: 82 (showing top): chr2q22, MEISSNER_NPC_HCP_WITH_H3_UNMETHYLATED, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, MIKKELSEN_MEF_HCP_WITH_H3_UNMETHYLATED, REACTOME_DISEASES_OF_GLYCOSYLATION, REACTOME_DISEASES_ASSOCIATED_WITH_O_GLYCOSYLATION_OF_PROTEINS, REACTOME_O_LINKED_GLYCOSYLATION, REACTOME_O_GLYCOSYLATION_OF_TSR_DOMAIN_CONTAINING_PROTEINS, REACTOME_DISEASES_OF_METABOLISM, ZNF513_TARGET_GENES, MIR548AJ_3P_MIR548X_3P, MIR548AE_3P_MIR548AQ_3P, MIR548AH_3P_MIR548AM_3P, MIR548J_3P

GO Biological Process (1): actin cytoskeleton organization (GO:0030036)

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

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

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
cytoskeleton organization	1
actin filament-based process	1
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

680 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
THSD7B	ZNF595	Q8IYB9	582
THSD7B	SNTG2	Q9NY99	462
THSD7B	PGLYRP3	Q96LB9	454
THSD7B	PGLYRP4	Q96LB8	453
THSD7B	MAP3K19	Q56UN5	442
THSD7B	OR5L1	Q8NGL2	422
THSD7B	KIAA0040	Q15053	419
THSD7B	OR5J2	Q8NH18	388
THSD7B	SCN11A	Q9UI33	380
THSD7B	OR1N2	Q8NGR9	379
THSD7B	FREM3	P0C091	378
THSD7B	NIPA2	Q8N8Q9	378
THSD7B	NLGN3	Q9NZ94	377
THSD7B	ZNF473	Q8WTR7	377
THSD7B	CLDN17	P56750	374

IntAct

76 interactions, top by confidence:

A	B	Type	Score
THSD7B	LYVE1	psi-mi:“MI:0915”(physical association)	0.560
THSD7B	KCNJ6	psi-mi:“MI:0915”(physical association)	0.560
THSD7B	DARS2	psi-mi:“MI:0915”(physical association)	0.560
THSD7B	FKBP7	psi-mi:“MI:0915”(physical association)	0.560
THSD7B	SLC30A8	psi-mi:“MI:0915”(physical association)	0.560
THSD7B	CISD2	psi-mi:“MI:0915”(physical association)	0.560
THSD7B	AQP6	psi-mi:“MI:0915”(physical association)	0.560
THSD7B	FAM209A	psi-mi:“MI:0915”(physical association)	0.560
THSD7B	PIGP	psi-mi:“MI:0915”(physical association)	0.560
THSD7B	SPACA1	psi-mi:“MI:0915”(physical association)	0.560
THSD7B	SLC14A1	psi-mi:“MI:0915”(physical association)	0.560
THSD7B	ARL13B	psi-mi:“MI:0915”(physical association)	0.560
THSD7B	SYT2	psi-mi:“MI:0915”(physical association)	0.560
THSD7B	KIR3DL1	psi-mi:“MI:0915”(physical association)	0.560
THSD7B	MFSD14B	psi-mi:“MI:0915”(physical association)	0.560
THSD7B	GPR152	psi-mi:“MI:0915”(physical association)	0.560
THSD7B	TMX2	psi-mi:“MI:0915”(physical association)	0.560
THSD7B	GPR37L1	psi-mi:“MI:0915”(physical association)	0.560
THSD7B	STOM	psi-mi:“MI:0915”(physical association)	0.560
THSD7B	PLEKHO1	psi-mi:“MI:0915”(physical association)	0.560
THSD7B	MTIF3	psi-mi:“MI:0915”(physical association)	0.560
THSD7B	GPR101	psi-mi:“MI:0915”(physical association)	0.560
THSD7B	GJA8	psi-mi:“MI:0915”(physical association)	0.560
THSD7B	PEX12	psi-mi:“MI:0915”(physical association)	0.560

ESM2 similar proteins: A7MBS7, D3YXF5, F1LW30, O89103, P10643, P11680, P27918, P35446, P82987, P90884, Q29RQ1, Q2I0M5, Q2MKA7, Q3UPR9, Q3UTY6, Q4R7Z5, Q5M7L6, Q5RAD0, Q5RBP1, Q5RBP8, Q5UE90, Q64181, Q66PY1, Q69ZU6, Q6NZL8, Q6P4U0, Q6UXX9, Q6ZMP0, Q7T3Q2, Q7TSK7, Q80YN4, Q86TH1, Q8BFU0, Q8BJ73, Q8BLI0, Q8IUX8, Q8IWY4, Q8IX30, Q8N6G6, Q8VCC9

Diamond homologs: A7MBS7, B3EWY9, B3EWZ8, Q1RMU1, Q2MKA7, Q3UPR9, Q5R328, Q5R7Y0, Q69Z28, Q69ZU6, Q6P4U0, Q8BMS2, Q8IVN8, Q8TE57, Q9BUD6, Q9C0I4, Q9UPZ6, Q9WV75, Q9Z132, A8WGB1, B3EWZ3, C0HL12, C5IAW9, D3YXG0, D3ZTD8, F1LW30, G5ECS8, O08721, O08722, O08747, O14514, O15072, O60241, O60242, O95185, O95450, P07996, P10643, P11680, P27590

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	233
Likely benign	13
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

5580 predictions. Top by Δscore:

Variant	Effect	Δscore
2:136765683:GACGG:G	donor_gain	1.0000
2:136765686:GG:G	donor_gain	1.0000
2:136765687:GG:G	donor_gain	1.0000
2:136836385:G:GT	donor_gain	1.0000
2:136847154:G:GT	donor_gain	1.0000
2:136882142:A:AC	acceptor_loss	1.0000
2:136882142:A:AG	acceptor_gain	1.0000
2:136882142:AG:A	acceptor_gain	1.0000
2:136882143:G:GG	acceptor_gain	1.0000
2:136882143:G:GT	acceptor_loss	1.0000
2:136882143:GG:G	acceptor_gain	1.0000
2:136882143:GGA:G	acceptor_gain	1.0000
2:136882143:GGAAT:G	acceptor_gain	1.0000
2:137056415:TGTA:T	acceptor_loss	1.0000
2:137056416:GTA:G	acceptor_loss	1.0000
2:137056417:TAGGT:T	acceptor_loss	1.0000
2:137056418:A:AC	acceptor_loss	1.0000
2:137056419:GGTCC:G	acceptor_gain	1.0000
2:137231039:TGTAG:T	acceptor_loss	1.0000
2:137231040:GTA:G	acceptor_loss	1.0000
2:137231042:A:AG	acceptor_gain	1.0000
2:137231042:A:AT	acceptor_loss	1.0000
2:137231043:G:GA	acceptor_gain	1.0000
2:137231043:GGA:G	acceptor_gain	1.0000
2:137231205:TC:T	donor_gain	1.0000
2:137272532:GGA:G	acceptor_gain	1.0000
2:137272532:GGAA:G	acceptor_gain	1.0000
2:137272623:A:T	donor_gain	1.0000
2:137272667:G:GG	donor_gain	1.0000
2:136765688:G:GG	donor_gain	0.9900

AlphaMissense

10532 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:137242544:G:C	W746C	0.999
2:137242544:G:T	W746C	0.999
2:137620686:G:C	W1253C	0.998
2:137620686:G:T	W1253C	0.998
2:137620695:G:C	W1256C	0.998
2:137620695:G:T	W1256C	0.998
2:137657090:G:C	W1435C	0.998
2:137657090:G:T	W1435C	0.998
2:137657105:G:C	W1440C	0.998
2:137657105:G:T	W1440C	0.998
2:137657130:T:A	C1449S	0.998
2:137657131:G:C	C1449S	0.998
2:137659705:T:A	C1473S	0.998
2:137659706:G:C	C1473S	0.998
2:137663398:T:A	C1492S	0.998
2:137663399:G:C	C1492S	0.998
2:137663449:T:A	C1509S	0.998
2:137663450:G:C	C1509S	0.998
2:137663451:C:G	C1509W	0.998
2:137056844:G:C	W188C	0.997
2:137056844:G:T	W188C	0.997
2:137094948:G:C	W342C	0.997
2:137094948:G:T	W342C	0.997
2:137115148:G:C	W408C	0.997
2:137115148:G:T	W408C	0.997
2:137231150:G:C	W610C	0.997
2:137231150:G:T	W610C	0.997
2:137242542:T:A	W746R	0.997
2:137242542:T:C	W746R	0.997
2:137405743:G:C	W877C	0.997

dbSNP variants (sampled 300 via entrez): RS1000003698 (2:136852503 A>C), RS1000005092 (2:136836759 G>A,T), RS1000007071 (2:137265416 G>A), RS1000007231 (2:137435684 T>G), RS1000012329 (2:137337720 T>C), RS1000013801 (2:137648947 T>A), RS1000021907 (2:137016831 A>G), RS1000024316 (2:137293600 T>C), RS1000025254 (2:137175583 A>T), RS1000025523 (2:136877831 G>C), RS1000030128 (2:137658216 T>A), RS1000031336 (2:137606413 C>A,T), RS1000034902 (2:137218977 T>C), RS1000037947 (2:137136299 T>C), RS1000049005 (2:137331965 C>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): Ehlers-Danlos syndrome, classic type (MONDO:0007522)

Orphanet (1): Classical Ehlers-Danlos syndrome (Orphanet:287)

HPO phenotypes

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

GWAS associations

26 associations (top):

Study	Trait	p-value
GCST000745_16	Pancreatic cancer	7.000000e-06
GCST001521_12	Subcutaneous adipose tissue	3.000000e-06
GCST001734_9	Non-small cell lung cancer	7.000000e-06
GCST002208_8	Liver enzyme levels (aspartate transaminase)	4.000000e-06
GCST002256_1	Tooth agenesis (third molar)	8.000000e-06
GCST002931_14	Aluminium levels	4.000000e-06
GCST003255_7	Urinary albumin-to-creatinine ratio	7.000000e-06
GCST003518_80	Daytime sleep phenotypes	8.000000e-06
GCST003784_3	Multiple system atrophy	7.000000e-06
GCST004639_31	Prudent dietary pattern	7.000000e-06
GCST004639_38	Prudent dietary pattern	8.000000e-06
GCST004639_39	Prudent dietary pattern	8.000000e-06
GCST005987_29	Albumin-globulin ratio	2.000000e-11
GCST005990_43	Non-albumin protein levels	1.000000e-11
GCST006624_90	Systolic blood pressure	5.000000e-09
GCST006920_6	Regular attendance at a gym or sports club	3.000000e-08
GCST007323_101	Risk-taking tendency (4-domain principal component model)	3.000000e-09
GCST007327_33	Smoking status (ever vs never smokers)	7.000000e-09
GCST007327_81	Smoking status (ever vs never smokers)	5.000000e-08
GCST007603_30	Smoking initiation	2.000000e-08
GCST008152_178	Weight	8.000000e-06
GCST008810_85	Smoking initiation (ever regular vs never regular)	5.000000e-09
GCST010248_1	Machado-Joseph disease (age at onset)	4.000000e-06
GCST010546_7	Problematic alcohol use	2.000000e-09
GCST011703_52	Smoking initiation	3.000000e-09
GCST012489_48	Heel bone mineral density x serum urate levels interaction	6.000000e-09

EFO canonical traits (15, from GWAS)

EFO ID	Trait name
EFO:0004736	aspartate aminotransferase measurement
EFO:0007778	urinary albumin to creatinine ratio
EFO:0007828	daytime rest measurement
EFO:0008111	diet measurement
EFO:0005128	albumin:globulin ratio measurement
EFO:0006335	systolic blood pressure
EFO:0009592	social interaction measurement
EFO:0008579	risk-taking behaviour
EFO:0004318	smoking behavior
EFO:0005670	smoking initiation
EFO:0004338	body weight
EFO:0004847	age at onset
EFO:0009458	alcohol use disorder measurement
EFO:0004531	urate measurement
EFO:0009270	heel bone mineral density

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs13382553	Toxicity	3	ethanol	Alcohol abuse

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs13382553	THSD7B	3	1.50	1	ethanol

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	7
aristolochic acid I	decreases expression	1
bisphenol A	affects methylation, affects cotreatment, increases methylation	1
trichostatin A	increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	affects methylation	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic Trioxide	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Caffeine	increases phosphorylation	1
Carbamazepine	affects expression	1
Copper	affects cotreatment, decreases expression	1
Phthalic Acids	increases methylation	1
Tretinoin	increases expression	1
Aflatoxin M1	decreases expression	1
Asbestos, Crocidolite	decreases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05429996	Not specified	UNKNOWN	Ultrastructural Collagen Markers in Ehlers Danlos Syndromes
NCT05434728	Not specified	UNKNOWN	Characterization of Bleeding Disorders in EDS