IGSF9B

Summary

IGSF9B (immunoglobulin superfamily member 9B, HGNC:32326) is a protein-coding gene on chromosome 11q25, encoding Protein turtle homolog B (Q9UPX0). Transmembrane protein which is abundantly expressed in interneurons, where it may regulate inhibitory synapse development.

Predicted to enable kinase binding activity. Predicted to be involved in synaptic membrane adhesion. Predicted to act upstream of or within homophilic cell adhesion via plasma membrane adhesion molecules and positive regulation of inhibitory postsynaptic potential. Predicted to be located in dendrite; inhibitory synapse; and neuronal cell body. Predicted to be active in GABA-ergic synapse; neuron projection; and postsynaptic specialization of symmetric synapse.

Source: NCBI Gene 22997 — RefSeq curated summary.

At a glance

• GWAS associations: 20
• Clinical variants (ClinVar): 37 total — 1 pathogenic
• MANE Select transcript: NM_001277285

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32326
Approved symbol	IGSF9B
Name	immunoglobulin superfamily member 9B
Location	11q25
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1030, LINC00947, LOC283174
Ensembl gene	ENSG00000080854
Ensembl biotype	protein_coding
OMIM	613773
Entrez	22997

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000321016, ENST00000526663, ENST00000527648, ENST00000530957, ENST00000533160, ENST00000533871, ENST00000564347

RefSeq mRNA: 1 — MANE Select: NM_001277285 NM_001277285

CCDS: CCDS61010

Canonical transcript exons

ENST00000533871 — 20 exons

Exon	Start	End
ENSE00000749102	133924820	133924904
ENSE00001195000	133937810	133937961
ENSE00001303640	133919742	133921397
ENSE00001305564	133922569	133922730
ENSE00001330226	133922177	133922222
ENSE00001464611	133944220	133944366
ENSE00001464612	133946061	133946258
ENSE00001559691	133956691	133956968
ENSE00003696918	133929671	133929782
ENSE00003696945	133936053	133936194
ENSE00003698548	133935617	133935762
ENSE00003698866	133911886	133912007
ENSE00003700209	133932071	133932213
ENSE00003700669	133931453	133931569
ENSE00003700678	133930984	133931134
ENSE00003701640	133926916	133927091
ENSE00003702105	133931655	133931795
ENSE00003702163	133937376	133937493
ENSE00003702420	133925739	133925965
ENSE00003755277	133896438	133909277

Expression profiles

Bgee: expression breadth ubiquitous, 183 present calls, max score 94.19.

FANTOM5 (CAGE): breadth broad, TPM avg 2.7744 / max 176.7867, expressed in 679 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
123252	2.1856	631
123247	0.3229	125
123251	0.0956	48
123241	0.0691	23
123246	0.0471	13
123248	0.0283	8
123249	0.0259	13

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	94.19	gold quality
cerebellar hemisphere	UBERON:0002245	94.02	gold quality
cerebellar cortex	UBERON:0002129	93.97	gold quality
cerebellum	UBERON:0002037	93.91	gold quality
lower esophagus muscularis layer	UBERON:0035833	91.25	gold quality
lower esophagus	UBERON:0013473	91.16	gold quality
cardiac muscle of right atrium	UBERON:0003379	90.98	gold quality
cerebellar vermis	UBERON:0004720	90.88	gold quality
right coronary artery	UBERON:0001625	89.60	gold quality
descending thoracic aorta	UBERON:0002345	89.43	gold quality
popliteal artery	UBERON:0002250	89.20	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	89.19	gold quality
tibial artery	UBERON:0007610	89.16	gold quality
aorta	UBERON:0000947	88.67	gold quality
mucosa of stomach	UBERON:0001199	88.65	gold quality
thoracic aorta	UBERON:0001515	88.17	gold quality
ascending aorta	UBERON:0001496	88.01	gold quality
left coronary artery	UBERON:0001626	87.51	gold quality
left uterine tube	UBERON:0001303	87.39	gold quality
body of uterus	UBERON:0009853	87.02	gold quality
coronary artery	UBERON:0001621	86.89	gold quality
muscle layer of sigmoid colon	UBERON:0035805	86.11	gold quality
middle temporal gyrus	UBERON:0002771	85.25	gold quality
right uterine tube	UBERON:0001302	84.92	gold quality
heart left ventricle	UBERON:0002084	83.44	gold quality
cardiac ventricle	UBERON:0002082	83.11	gold quality
cardiac atrium	UBERON:0002081	83.07	gold quality
heart	UBERON:0000948	82.93	gold quality
apex of heart	UBERON:0002098	82.91	gold quality
right atrium auricular region	UBERON:0006631	82.80	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	827.90
E-ANND-3	no	2.22

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

37 targeting IGSF9B, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-3128	99.50	67.85	1258
HSA-MIR-4426	99.17	66.74	1949
HSA-MIR-491-5P	99.13	65.98	1468
HSA-MIR-1286	99.09	66.23	1046
HSA-MIR-877-3P	99.09	68.10	1637
HSA-MIR-5000-3P	98.79	65.63	1251
HSA-MIR-12114	98.70	63.45	730
HSA-MIR-4662B	98.33	66.37	1163
HSA-MIR-4647	98.30	66.41	1139
HSA-MIR-6881-3P	98.04	68.24	1777

Literature-anchored findings (GeneRIF, showing 5)

• The transcriptional level of MIR4697HG in cancerous tissues increased twofold compared with that in adjacent noncancerous tissues. MIR4697HG was differentially expressed in ovarian cancer cell lines, with the highest levels in OVCAR3 and SKOV3 cells. (PMID:28168162)
• Polymorphism in IGSF9B gene is associated with schizophrenia and bipolar disorder. (PMID:28786528)
• The Genetic variants located in IGSF9B has the potential to modulate disease course in MS patients and may be used as disease activity biomarkers to identify patients with divergent disease courses. (PMID:30217166)
• The role of cell adhesion molecule IgSF9b at the inhibitory synapse and psychiatric disease. (PMID:38029609)
• LncRNA MIR4697HG Alleviates Endothelial Cell Injury and Atherosclerosis Progression in Mice via the FUS/ANXA5 Axis. (PMID:38082058)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	igsf9bb	ENSDARG00000069467
mus_musculus	Igsf9b	ENSMUSG00000034275
rattus_norvegicus	Igsf9b	ENSRNOG00000009253

Paralogs (36): CNTN1 (ENSG00000018236), CDON (ENSG00000064309), NEO1 (ENSG00000067141), SDK2 (ENSG00000069188), IGSF9 (ENSG00000085552), NRCAM (ENSG00000091129), MXRA5 (ENSG00000101825), IGDCC4 (ENSG00000103742), CNTN3 (ENSG00000113805), IGSF21 (ENSG00000117154), CNTN6 (ENSG00000134115), CHL1 (ENSG00000134121), PTPRQ (ENSG00000139304), CNTN4 (ENSG00000144619), BOC (ENSG00000144857), SDK1 (ENSG00000146555), HMCN2 (ENSG00000148357), NCAM1 (ENSG00000149294), CNTN5 (ENSG00000149972), IGSF10 (ENSG00000152580), ROBO4 (ENSG00000154133), ROBO3 (ENSG00000154134), NCAM2 (ENSG00000154654), VCAM1 (ENSG00000162692), NFASC (ENSG00000163531), PRTG (ENSG00000166450), ROBO1 (ENSG00000169855), DSCAM (ENSG00000171587), IGDCC3 (ENSG00000174498), VSIG10 (ENSG00000176834), DSCAML1 (ENSG00000177103), CNTN2 (ENSG00000184144), ROBO2 (ENSG00000185008), VSIG10L (ENSG00000186806), DCC (ENSG00000187323), L1CAM (ENSG00000198910)

Protein

Protein identifiers

Protein turtle homolog B — Q9UPX0 (reviewed: Q9UPX0)

Alternative names: Immunoglobulin superfamily member 9B

All UniProt accessions (3): Q9UPX0, E9PRP3, H0YDP1

UniProt curated annotations — full annotation on UniProt →

Function. Transmembrane protein which is abundantly expressed in interneurons, where it may regulate inhibitory synapse development. May mediate homophilic cell adhesion. Is involved in the organization and maintenance of axon initial segment (AIS) architecture, likely cooperating with PRICKLE2 to regulate ANK3/ANKG localization to AIS.

Subunit / interactions. Found in a complex with MAGI2 and NLGN2, where it interacts with MAGI2 (via PDZ 5 and PDZ 6 domains). Interacts with PRICKLE2; the interaction is required for correct IGSF9B and ANK3/ANKG localization in axons.

Subcellular location. Postsynaptic cell membrane. Postsynaptic density. Cell projection. Axon.

Post-translational modifications. N-glycosylated and sialylated. Not significantly O-glycosylated.

Similarity. Belongs to the immunoglobulin superfamily. Turtle family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UPX0-1	1	yes
Q9UPX0-2	2

RefSeq proteins (1): NP_001264214* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR003961	FN3_dom	Domain
IPR007110	Ig-like_dom	Domain
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036116	FN3_sf	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR051170	Neural/epithelial_adhesion	Family

Pfam: PF00041, PF13895, PF13927

UniProt features (40 total): domain 7, compositionally biased region 7, modified residue 6, disulfide bond 5, region of interest 3, glycosylation site 3, topological domain 2, sequence variant 2, signal peptide 1, chain 1, transmembrane region 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UPX0-F1	62.71	0.29

Functional residue map

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

Post-translational modifications (6): 775, 783, 794, 1136, 1207, 1215

Disulfide bonds (5): 45–113, 161–208, 250–303, 346–397, 442–488

Glycosylation sites (3): 241, 258, 624

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 125 (showing top): MORF_RAGE, TGGTGCT_MIR29A_MIR29B_MIR29C, CAR_TNFRSF25, XU_GH1_AUTOCRINE_TARGETS_UP, AREB6_01, MEF2_02, MORF_FANCG, CAR_MYST2, HFH4_01, HFH3_01, CAR_MLANA, TATA_C, MORF_PML, GOCC_NEURON_PROJECTION, MORF_PDPK1

GO Biological Process (2): cell adhesion (GO:0007155), nervous system development (GO:0007399)

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

GO Cellular Component (7): postsynaptic density (GO:0014069), neuron projection (GO:0043005), postsynaptic membrane (GO:0045211), GABA-ergic synapse (GO:0098982), plasma membrane (GO:0005886), membrane (GO:0016020), synapse (GO:0045202)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	1
system development	1
binding	1
asymmetric synapse	1
postsynaptic specialization	1
plasma membrane bounded cell projection	1
synaptic membrane	1
postsynapse	1
synapse	1
membrane	1
cell periphery	1
cellular anatomical structure	1
cell junction	1

Protein interactions and networks

STRING

828 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IGSF9B	NLGN2	Q8NFZ4	707
IGSF9B	MAGI2	Q86UL8	565
IGSF9B	ELFN1	P0C7U0	528
IGSF9B	IGSF21	Q96ID5	490
IGSF9B	LHFPL4	Q7Z7J7	464
IGSF9B	GAD1	Q99259	439
IGSF9B	DLX1	P56177	428
IGSF9B	NRXN2	Q9P2S2	425
IGSF9B	NRXN1	Q9ULB1	419
IGSF9B	KCNC3	Q14003	404
IGSF9B	LHFPL3	Q86UP9	399
IGSF9B	LRRN4CL	Q8ND94	393
IGSF9B	RBM46	Q8TBY0	391
IGSF9B	GRIN2B	Q13224	380
IGSF9B	SLC32A1	Q9H598	378
IGSF9B	DLX5	P56178	378

IntAct

7 interactions, top by confidence:

A	B	Type	Score
YAP1	IGSF9B	psi-mi:“MI:0407”(direct interaction)	0.440
IGSF9B	NEGR1	psi-mi:“MI:0915”(physical association)	0.400
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (8): IGSF9B (Affinity Capture-RNA), IGSF9B (Affinity Capture-MS), IGSF9B (Affinity Capture-MS), IGSF9B (Protein-peptide), IGSF9B (Affinity Capture-MS), IGSF9B (Affinity Capture-MS), IGSF9B (Affinity Capture-MS), IGSF9B (Affinity Capture-MS)

ESM2 similar proteins: D3ZB51, E9PZ19, M0RAS4, O60242, O60245, O70472, O75882, O94779, P13590, P13591, P13595, P13596, P15209, P24786, P31836, P51641, P68500, P78539, P97300, P97527, P97546, Q01973, Q03351, Q15223, Q16288, Q16620, Q5IFJ9, Q5IS37, Q5IS82, Q63604, Q63769, Q6A051, Q6AZB0, Q6GQT9, Q6P1D5, Q6VNS1, Q7TNR6, Q80T74, Q80ZF8, Q8R4I7

Diamond homologs: A4FUY1, A6QQC6, A8MVW5, D3YXG0, D3ZB51, D3ZQE1, E9PZ19, O08775, P13595, P13596, P16573, P31809, P35968, P52583, Q00889, Q14CZ8, Q3KPI0, Q4VAH7, Q52KR2, Q62845, Q640R3, Q69Z26, Q9D2Z1, Q9HBG7, Q9UPX0, A2AJ76, A6NDA9, O55005, O75962, P0C6S8, Q1LUA6, Q3SXY7, Q3URE9, Q4R8Y9, Q504C1, Q6GQU6, Q6PFC5, Q7L985, Q80X72, Q8K099

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	3
Likely benign	6
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
625595	GRCh37/hg19 11q25(chr11:133325079-134157243)	Pathogenic

SpliceAI

4842 predictions. Top by Δscore:

Variant	Effect	Δscore
11:133921394:CAAG:C	acceptor_gain	1.0000
11:133921398:C:CC	acceptor_gain	1.0000
11:133922175:A:AC	donor_gain	1.0000
11:133922176:C:CC	donor_gain	1.0000
11:133922564:CCCA:C	donor_loss	1.0000
11:133922568:C:CA	donor_loss	1.0000
11:133922589:CG:C	donor_gain	1.0000
11:133922726:GATGT:G	acceptor_gain	1.0000
11:133922727:ATGT:A	acceptor_gain	1.0000
11:133922728:TGT:T	acceptor_gain	1.0000
11:133922729:GT:G	acceptor_gain	1.0000
11:133922731:C:CA	acceptor_loss	1.0000
11:133922731:C:CC	acceptor_gain	1.0000
11:133924914:C:CT	acceptor_gain	1.0000
11:133925733:CCTCA:C	donor_loss	1.0000
11:133925734:CTCA:C	donor_loss	1.0000
11:133925735:TCAC:T	donor_loss	1.0000
11:133925736:CAC:C	donor_loss	1.0000
11:133925738:C:G	donor_loss	1.0000
11:133925766:T:A	donor_gain	1.0000
11:133925961:GAATG:G	acceptor_gain	1.0000
11:133925963:ATG:A	acceptor_gain	1.0000
11:133925964:TG:T	acceptor_gain	1.0000
11:133925964:TGC:T	acceptor_loss	1.0000
11:133925966:C:CA	acceptor_loss	1.0000
11:133925966:C:CC	acceptor_gain	1.0000
11:133925970:G:T	acceptor_gain	1.0000
11:133925972:C:CT	acceptor_gain	1.0000
11:133925973:G:T	acceptor_gain	1.0000
11:133926912:TCACC:T	donor_loss	1.0000

AlphaMissense

9259 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:133922627:G:C	S741R	1.000
11:133922627:G:T	S741R	1.000
11:133922629:T:G	S741R	1.000
11:133922656:A:G	C732R	1.000
11:133924885:C:G	R685P	1.000
11:133925873:A:G	W634R	1.000
11:133925873:A:T	W634R	1.000
11:133926978:A:T	V582D	1.000
11:133926984:A:G	F580S	1.000
11:133929717:A:G	W529R	1.000
11:133929717:A:T	W529R	1.000
11:133930995:A:G	L503P	1.000
11:133931027:G:C	N492K	1.000
11:133931027:G:T	N492K	1.000
11:133931034:G:T	A490D	1.000
11:133931039:A:C	C488W	1.000
11:133931040:C:G	C488S	1.000
11:133931041:A:G	C488R	1.000
11:133931041:A:T	C488S	1.000
11:133931045:C:A	W486C	1.000
11:133931045:C:G	W486C	1.000
11:133931047:A:G	W486R	1.000
11:133931047:A:T	W486R	1.000
11:133931459:C:A	W454C	1.000
11:133931459:C:G	W454C	1.000
11:133931461:A:G	W454R	1.000
11:133931461:A:T	W454R	1.000
11:133931472:G:T	P450H	1.000
11:133931485:C:A	G446W	1.000
11:133931495:A:C	C442W	1.000

dbSNP variants (sampled 300 via entrez): RS1000047841 (11:133935404 C>T), RS1000081660 (11:133907032 C>G), RS1000113208 (11:133916409 G>A), RS1000148936 (11:133899044 C>A,G), RS1000171208 (11:133950107 G>A), RS1000229479 (11:133916098 C>T), RS1000309837 (11:133938354 C>T), RS1000338923 (11:133955147 G>A), RS1000341360 (11:133920591 A>G), RS1000368236 (11:133898877 G>A,C,T), RS1000511863 (11:133915392 C>CCAA), RS1000520319 (11:133934860 G>A,C), RS1000540056 (11:133951069 G>A), RS1000563541 (11:133917147 G>A,T), RS1000606851 (11:133949839 G>A)

Disease associations

OMIM: gene MIM:613773 | disease phenotypes: MIM:147791

GenCC curated gene-disease

Mondo (1): Jacobsen syndrome (MONDO:0007838)

Orphanet (1): Jacobsen syndrome (Orphanet:2308)

HPO phenotypes

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

GWAS associations

20 associations (top):

Study	Trait	p-value
GCST001762_866	Obesity-related traits	1.000000e-06
GCST002539_12	Schizophrenia	4.000000e-11
GCST002981_3	Longitudinal alcohol consumption	5.000000e-07
GCST003720_11	Migraine	3.000000e-08
GCST004521_133	Autism spectrum disorder or schizophrenia	2.000000e-09
GCST004946_25	Schizophrenia	9.000000e-13
GCST005235_2	Hand grip strength	3.000000e-08
GCST006803_19	Schizophrenia	5.000000e-14
GCST006940_159	Neurociticism	3.000000e-08
GCST006950_6	Feeling worry	4.000000e-09
GCST007201_128	Schizophrenia	1.000000e-12
GCST007201_157	Schizophrenia	2.000000e-11
GCST008477_20	Emphysema annual change measurement in smokers (adjusted lung density)	9.000000e-06
GCST008522_4	Bitter alcoholic beverage consumption	3.000000e-08
GCST008595_112	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	2.000000e-10
GCST008757_39	Alcohol consumption	3.000000e-09
GCST009325_7	Parkinson’s disease or first degree relation to individual with Parkinson’s disease	6.000000e-20
GCST009600_134	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)	6.000000e-10
GCST010988_508	Adult body size	2.000000e-10
GCST010991_12	Parkinson’s disease	7.000000e-09

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0005116	urinary metabolite measurement
EFO:0007645	longitudinal alcohol consumption measurement
EFO:0006941	grip strength measurement
EFO:0007660	neuroticism measurement
EFO:0009589	worry measurement
EFO:0007626	emphysema imaging measurement
EFO:0010092	bitter alcoholic beverage consumption measurement
EFO:0004337	intelligence
EFO:0004784	self reported educational attainment

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
Valproic Acid	affects expression, increases methylation	2
Aflatoxin B1	increases methylation	2
FR900359	increases phosphorylation	1
Esketamine	increases expression	1
triphenyl phosphate	affects expression	1
mono-(2-ethylhexyl)phthalate	increases abundance, increases methylation	1
sodium arsenite	affects methylation	1
benzo(e)pyrene	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
bisphenol S	decreases methylation	1
jinfukang	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Carbamazepine	affects expression	1
Cisplatin	increases expression, affects cotreatment	1
Diethylhexyl Phthalate	increases abundance, increases methylation	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Lead	affects expression	1
Methapyrilene	increases methylation	1
Silicon Dioxide	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Vanadium	increases abundance, increases methylation	1
Propofol	decreases expression	1
Antirheumatic Agents	increases expression	1
Metals, Heavy	increases abundance, increases methylation	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04463316	Not specified	RECRUITING	GROWing Up With Rare GENEtic Syndromes