TMEM98

Summary

TMEM98 (transmembrane protein 98, HGNC:24529) is a protein-coding gene on chromosome 17q11.2, encoding Transmembrane protein 98 (Q9Y2Y6). Functions as a negative regulator of MYRF in oligodendrocyte differentiation and myelination.

This gene encodes a transmembrane protein. A missense mutation in this gene result in Nanophthalmos 4 (NNO4). Alternatively spliced transcript variants encoding the same protein have been found for this gene.

Source: NCBI Gene 26022 — RefSeq curated summary.

At a glance

• Gene–disease (curated): nanophthalmos 4 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 5
• Clinical variants (ClinVar): 52 total — 3 pathogenic
• Phenotypes (HPO): 12
• MANE Select transcript: NM_015544

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24529
Approved symbol	TMEM98
Name	transmembrane protein 98
Location	17q11.2
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP564K1964
Ensembl gene	ENSG00000006042
Ensembl biotype	protein_coding
OMIM	615949
Entrez	26022

Gene structure

Transcript identifiers

Ensembl transcripts: 28 — 26 protein_coding, 2 retained_intron

ENST00000261713, ENST00000394642, ENST00000395149, ENST00000439138, ENST00000578289, ENST00000579849, ENST00000582227, ENST00000583120, ENST00000583437, ENST00000851236, ENST00000851237, ENST00000851238, ENST00000851239, ENST00000851240, ENST00000851241, ENST00000851242, ENST00000851243, ENST00000851244, ENST00000921793, ENST00000921794, ENST00000921795, ENST00000921796, ENST00000960315, ENST00000960316, ENST00000960317, ENST00000960318, ENST00000960319, ENST00000960320

RefSeq mRNA: 3 — MANE Select: NM_015544 NM_001033504, NM_001301746, NM_015544

CCDS: CCDS11274

Canonical transcript exons

ENST00000579849 — 8 exons

Exon	Start	End
ENSE00000713525	32939477	32939536
ENSE00001372064	32931327	32931402
ENSE00001895464	32940786	32944315
ENSE00001942352	32928153	32928237
ENSE00003595184	32931475	32931659
ENSE00003636641	32933174	32933305
ENSE00003650967	32934291	32934324
ENSE00003786817	32936332	32936447

Expression profiles

Bgee: expression breadth ubiquitous, 230 present calls, max score 99.25.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 38.7645 / max 9986.4442, expressed in 1372 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
160263	30.4655	1370
160261	1.9953	1014
160266	1.7095	142
160265	1.6228	109
160264	1.1755	98
160259	0.5953	380
208128	0.5391	57
160262	0.3859	152
160260	0.2754	141

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	99.25	gold quality
pigmented layer of retina	UBERON:0001782	99.13	gold quality
retina	UBERON:0000966	99.11	gold quality
stromal cell of endometrium	CL:0002255	98.89	gold quality
ventricular zone	UBERON:0003053	98.72	gold quality
left ovary	UBERON:0002119	98.34	gold quality
ganglionic eminence	UBERON:0004023	98.23	gold quality
embryo	UBERON:0000922	98.22	gold quality
corpus callosum	UBERON:0002336	98.14	gold quality
gall bladder	UBERON:0002110	98.00	gold quality
right ovary	UBERON:0002118	98.00	gold quality
ovary	UBERON:0000992	97.54	gold quality
rectum	UBERON:0001052	97.37	gold quality
mucosa of transverse colon	UBERON:0004991	97.16	gold quality
body of uterus	UBERON:0009853	97.03	gold quality
right uterine tube	UBERON:0001302	96.82	gold quality
inferior vagus X ganglion	UBERON:0005363	96.70	gold quality
tibial nerve	UBERON:0001323	96.64	gold quality
descending thoracic aorta	UBERON:0002345	96.19	gold quality
left uterine tube	UBERON:0001303	96.09	gold quality
body of stomach	UBERON:0001161	95.91	gold quality
endocervix	UBERON:0000458	95.68	gold quality
thoracic aorta	UBERON:0001515	95.68	gold quality
smooth muscle tissue	UBERON:0001135	95.66	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	95.66	gold quality
ascending aorta	UBERON:0001496	95.64	gold quality
body of pancreas	UBERON:0001150	95.59	gold quality
stomach	UBERON:0000945	95.38	gold quality
transverse colon	UBERON:0001157	95.34	gold quality
spinal cord	UBERON:0002240	95.34	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 11.

Experiment	Marker?	Max mean expression
E-MTAB-9388	yes	1558.46
E-MTAB-6108	yes	1522.70
E-MTAB-10485	yes	1425.23
E-MTAB-6701	yes	65.06
E-GEOD-134144	yes	32.68
E-GEOD-135922	yes	17.20
E-GEOD-93593	yes	13.46
E-CURD-112	yes	12.46
E-MTAB-8271	yes	7.78
E-MTAB-6678	yes	4.05
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

37 targeting TMEM98, 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-3646	100.00	73.56	5283
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-219A-5P	99.91	73.36	735
HSA-MIR-4782-3P	99.88	73.31	735
HSA-MIR-6766-3P	99.88	73.38	732
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-578	99.46	68.36	1787
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-4735-5P	99.43	68.49	1780
HSA-MIR-3678-3P	99.31	67.10	1432
HSA-MIR-20B-3P	99.29	67.05	784
HSA-MIR-1911-3P	99.15	66.17	528
HSA-MIR-877-3P	99.09	68.10	1637
HSA-MIR-6852-3P	98.54	67.60	1468

Literature-anchored findings (GeneRIF, showing 11)

• we identified a panel of novel common chemoresistance-associated genes and demonstrated that TMEM98 is a chemoresistance-conferring gene in hepatocellular carcinoma. (PMID:24608572)
• A novel gene associated with nanophthalmos, TMEM98 most likely represents the cause of the disease. (PMID:24852644)
• Two novel TMEM98 mutations have been found in two pedigrees with autosomal dominant nanophthalmos. (PMID:26392740)
• siRNA-TMEM98 inhibited the invasion and migration of non-small cell lung cancer cells. (PMID:26884835)
• miR-219-5p could inhibit wound healing by targeting TMEM98 in keratinocytes. (PMID:30338788)
• Mutations in the mouse orthologue of the human nanophthalmos gene TMEM98 do not result in small eyes. Rather, there is localized disruption of the laminar structure of the photoreceptors. (PMID:31266059)
• TMEM98 mRNA promotes proliferation and invasion of gastric cells by directly interacting with NF90 protein. (PMID:32379372)
• Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort. (PMID:33203948)
• A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity. (PMID:33596443)
• Tumor-Suppressor Gene Transmembrane Protein 98 Promotes Proliferation and Inhibits Apoptosis in Ovarian Cancer. (PMID:35866395)
• Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse. (PMID:37419942)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem98	ENSDARG00000059743
mus_musculus	Tmem98	ENSMUSG00000035413
rattus_norvegicus	Tmem98	ENSRNOG00000021316
caenorhabditis_elegans	K10C3.4	WBGENE00010731

Protein

Protein identifiers

Transmembrane protein 98 — Q9Y2Y6 (reviewed: Q9Y2Y6)

Alternative names: Protein TADA1

All UniProt accessions (6): Q9Y2Y6, C9J3Y0, C9J6Q8, J3QLG7, J3QS57, J9JIC8

UniProt curated annotations — full annotation on UniProt →

Function. Functions as a negative regulator of MYRF in oligodendrocyte differentiation and myelination. Interacts with the C-terminal of MYRF inhibiting MYRF self-cleavage and N-fragment nuclear translocation. The secreted form promotes differentiation of T helper 1 cells (Th1).

Subunit / interactions. Interacts (via N-terminal region) with MYRF; the interaction inhibits MYRF self-cleavage.

Subcellular location. Cell membrane. Secreted. Extracellular exosome. Endoplasmic reticulum membrane.

Tissue specificity. Widely expressed with high expression in the ovary, pancreas and prostate. Expressed in the eye, particularly in corneal endothelium, iris, ciliary body, sclera, optic nerve, optic nerve head, and retina. Expressed by activated peripheral blood mononuclear cells.

Disease relevance. Nanophthalmos 4 (NNO4) [MIM:615972] A form of nanophthalmos, a disorder of eye development characterized by extreme hyperopia and small functional eyes. The cornea and lens are normal in size and shape. Hyperopia occurs because insufficient growth along the visual axis places these lensing components too close to the retina. Nanophthalmic eyes show considerable thickening of both the choroidal vascular bed and scleral coat, which provide nutritive and structural support for the retina. NNO4 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the TMEM98 family.

RefSeq proteins (3): NP_001028676, NP_001288675, NP_056359* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029668	TMEM98	Family

UniProt features (11 total): sequence variant 3, topological domain 2, sequence conflict 2, region of interest 2, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2Y6-F1	71.67	0.18

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 199 (showing top): GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, GOBP_NEGATIVE_REGULATION_OF_OLIGODENDROCYTE_DIFFERENTIATION, GOBP_T_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_GLIOGENESIS, GOBP_ALPHA_BETA_T_CELL_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_GLIAL_CELL_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_PROCESS, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_MYELINATION, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, CHANDRAN_METASTASIS_DN, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION, chr17q11, GOBP_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT

GO Biological Process (5): negative regulation of protein processing (GO:0010955), negative regulation of myelination (GO:0031642), T-helper 1 cell differentiation (GO:0045063), negative regulation of oligodendrocyte differentiation (GO:0048715), negative regulation of protein localization to nucleus (GO:1900181)

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

GO Cellular Component (7): obsolete extracellular space (GO:0005615), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), extracellular exosome (GO:0070062), extracellular region (GO:0005576), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
protein processing	1
negative regulation of proteolysis	1
regulation of protein processing	1
negative regulation of protein maturation	1
regulation of myelination	1
negative regulation of nervous system process	1
myelination	1
negative regulation of cellular process	1
alpha-beta T cell activation involved in immune response	1
T cell differentiation involved in immune response	1
T-helper 1 type immune response	1
T-helper cell differentiation	1
negative regulation of glial cell differentiation	1
oligodendrocyte differentiation	1
regulation of oligodendrocyte differentiation	1
protein localization to nucleus	1
regulation of protein localization to nucleus	1
negative regulation of protein localization	1
binding	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1
extracellular vesicle	1

Protein interactions and networks

STRING

502 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM98	PRSS56	P0CW18	811
TMEM98	MYRF	Q9Y2G1	757
TMEM98	MFRP	Q9BY79	711
TMEM98	BEST1	O76090	562
TMEM98	TMEM176A	Q96HP8	496
TMEM98	STX12	Q86Y82	482
TMEM98	TSPAN11	A1L157	475
TMEM98	STX8	Q9UNK0	467
TMEM98	STX7	O15400	454
TMEM98	VAMP8	Q9BV40	446
TMEM98	VAMP3	Q15836	443
TMEM98	TMEM158	Q8WZ71	421
TMEM98	NDC1	Q9BTX1	418
TMEM98	SAXO4	Q7Z5V6	415
TMEM98	TMEM88	Q6PEY1	413
TMEM98	SCARA3	Q6AZY7	413

IntAct

30 interactions, top by confidence:

A	B	Type	Score
SGTA	TMEM98	psi-mi:“MI:0915”(physical association)	0.560
ATP1B3	TMEM98	psi-mi:“MI:0915”(physical association)	0.560
SUSD3	TMEM98	psi-mi:“MI:0915”(physical association)	0.560
MUC1	TMEM98	psi-mi:“MI:0915”(physical association)	0.560
GOLM1	TMEM98	psi-mi:“MI:0915”(physical association)	0.560
STOM	TMEM98	psi-mi:“MI:0915”(physical association)	0.560
GJB1	TMEM98	psi-mi:“MI:0915”(physical association)	0.560
TMEM98	CKM	psi-mi:“MI:0915”(physical association)	0.400
TMEM98	HTR6	psi-mi:“MI:0915”(physical association)	0.370
TMEM98	RABEPK	psi-mi:“MI:0915”(physical association)	0.370
TMEM98	TNNT1	psi-mi:“MI:0915”(physical association)	0.370
TMEM98	STX7	psi-mi:“MI:0914”(association)	0.350
CD226	TMED7-TICAM2	psi-mi:“MI:0914”(association)	0.350
NUDT3	SNRPB	psi-mi:“MI:0914”(association)	0.350
TMEM98	PDGFRB	psi-mi:“MI:0914”(association)	0.350
MFSD14A	FAM171A2	psi-mi:“MI:0914”(association)	0.350
TMEM98	SGTA	psi-mi:“MI:0915”(physical association)	0.000
TMEM98	ATP1B3	psi-mi:“MI:0915”(physical association)	0.000
TMEM98	SUSD3	psi-mi:“MI:0915”(physical association)	0.000
TMEM98	MUC1	psi-mi:“MI:0915”(physical association)	0.000
TMEM98	GOLM1	psi-mi:“MI:0915”(physical association)	0.000
TMEM98	STOM	psi-mi:“MI:0915”(physical association)	0.000
TMEM98	GJB1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (25): TMEM98 (Affinity Capture-RNA), ATP1B3 (Two-hybrid), SGTA (Two-hybrid), GOLM1 (Two-hybrid), STOM (Two-hybrid), SUSD3 (Two-hybrid), GJB1 (Two-hybrid), MUC1 (Two-hybrid), TMEM98 (Proximity Label-MS), TMEM98 (Two-hybrid), VAMP3 (Affinity Capture-MS), ERGIC2 (Affinity Capture-MS), CD320 (Affinity Capture-MS), BMPR1A (Affinity Capture-MS), VAMP8 (Affinity Capture-MS)

ESM2 similar proteins: A6NFY4, A6QNT4, A7MBC7, D3Z291, D3ZEH5, O14524, P0C8N6, P50747, P51811, P60570, Q2HJ63, Q2HJB9, Q3TD49, Q49LS5, Q49LS8, Q5F383, Q5GH61, Q5JZQ8, Q5PQL3, Q5RDB4, Q5RJQ8, Q5XII8, Q5ZJY9, Q5ZKY0, Q60GF7, Q6AXN4, Q6AYS5, Q6ZQE4, Q7SYC7, Q80UF9, Q811Q0, Q8C561, Q8CB65, Q8CHQ0, Q8CIF6, Q8K2I9, Q8NFZ0, Q8TCT8, Q8VEC4, Q90YH8

Diamond homologs: Q2HJB9, Q3TVC7, Q4R809, Q5BK06, Q6AYS5, Q6INX1, Q91X86, Q9Y2Y6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	29
Likely benign	1
Benign	3

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
155721	NM_015544.3(TMEM98):c.577G>C (p.Ala193Pro)	Pathogenic
224331	NM_015544.3(TMEM98):c.587A>C (p.His196Pro)	Pathogenic
224332	NM_015544.3(TMEM98):c.236_263+6del	Pathogenic

SpliceAI

1294 predictions. Top by Δscore:

Variant	Effect	Δscore
17:32931660:G:GG	donor_gain	1.0000
17:32933168:TTCCA:T	acceptor_loss	1.0000
17:32933169:TCCA:T	acceptor_loss	1.0000
17:32933170:CCAG:C	acceptor_loss	1.0000
17:32933172:A:AG	acceptor_gain	1.0000
17:32933173:G:GT	acceptor_gain	1.0000
17:32933173:GGC:G	acceptor_gain	1.0000
17:32933173:GGCC:G	acceptor_gain	1.0000
17:32933173:GGCCC:G	acceptor_gain	1.0000
17:32933301:GCCTC:G	donor_gain	1.0000
17:32933304:TC:T	donor_gain	1.0000
17:32933304:TCGT:T	donor_loss	1.0000
17:32933306:G:GG	donor_gain	1.0000
17:32933306:GT:G	donor_loss	1.0000
17:32933307:T:A	donor_loss	1.0000
17:32933318:G:T	donor_gain	1.0000
17:32934289:AGG:A	acceptor_gain	1.0000
17:32934290:GGG:G	acceptor_gain	1.0000
17:32936331:GATTT:G	acceptor_gain	1.0000
17:32940783:TAGG:T	acceptor_loss	1.0000
17:32940784:A:AG	acceptor_gain	1.0000
17:32940784:AG:A	acceptor_gain	1.0000
17:32940784:AGGAC:A	acceptor_gain	1.0000
17:32940785:G:GA	acceptor_gain	1.0000
17:32940785:GG:G	acceptor_gain	1.0000
17:32940785:GGA:G	acceptor_gain	1.0000
17:32940785:GGAC:G	acceptor_gain	1.0000
17:32940785:GGACG:G	acceptor_gain	1.0000
17:32931325:AG:A	acceptor_gain	0.9900
17:32931326:GG:G	acceptor_gain	0.9900

AlphaMissense

1456 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:32936337:T:G	C101W	1.000
17:32936345:T:C	L104P	1.000
17:32936357:T:C	L108P	1.000
17:32936429:C:A	A132D	1.000
17:32940818:T:C	L169P	1.000
17:32931551:C:A	A8D	0.999
17:32931556:G:C	G10R	0.999
17:32931563:T:A	L12Q	0.999
17:32933289:T:A	W83R	0.999
17:32933289:T:C	W83R	0.999
17:32933291:G:C	W83C	0.999
17:32933291:G:T	W83C	0.999
17:32934308:G:A	C94Y	0.999
17:32934309:C:G	C94W	0.999
17:32934320:T:C	L98S	0.999
17:32934320:T:G	L98W	0.999
17:32936335:T:C	C101R	0.999
17:32936336:G:A	C101Y	0.999
17:32936338:C:G	H102D	0.999
17:32936357:T:A	L108H	0.999
17:32936360:T:A	V109D	0.999
17:32936428:G:C	A132P	0.999
17:32936435:G:C	R134P	0.999
17:32939482:A:T	D140V	0.999
17:32939488:T:A	V142D	0.999
17:32939536:G:C	R158P	0.999
17:32940797:T:A	L162Q	0.999
17:32940797:T:C	L162P	0.999
17:32940803:T:C	L164P	0.999
17:32940809:T:A	V166D	0.999

dbSNP variants (sampled 300 via entrez): RS1000161412 (17:32930578 C>A,T), RS1000300782 (17:32942065 A>G), RS1000300800 (17:32932105 T>TC), RS1000342429 (17:32936616 T>A,G), RS1000619588 (17:32930846 A>T), RS1000648639 (17:32928715 C>G,T), RS1000674655 (17:32938001 C>G), RS1000678310 (17:32928417 G>A,C), RS1000757932 (17:32927838 T>C), RS1001108635 (17:32932157 A>G), RS1001256470 (17:32943874 A>G), RS1001274135 (17:32935337 C>T), RS1001347771 (17:32934924 A>G), RS1001363907 (17:32926557 G>A), RS1001566322 (17:32929055 C>G)

Disease associations

OMIM: gene MIM:615949 | disease phenotypes: MIM:615972

GenCC curated gene-disease

Disease	Classification	Inheritance
nanophthalmos 4	Strong	Autosomal dominant
nanophthalmia	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
nanophthalmos 4	Limited	AD

Mondo (2): nanophthalmos 4 (MONDO:0014426), nanophthalmia (MONDO:0005514)

Orphanet (1): Nanophthalmos (Orphanet:35612)

HPO phenotypes

12 total (12 of 12 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000486	Strabismus
HP:0000501	Glaucoma
HP:0000540	Hypermetropia
HP:0000568	Microphthalmia
HP:0000610	Abnormal choroid morphology
HP:0003577	Congenital onset
HP:0007663	Reduced visual acuity
HP:0007703	Abnormal retinal pigmentation
HP:0008499	High hypermetropia
HP:0012109	Angle closure glaucoma
HP:0012426	Optic disc drusen

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST003997_14	Myopia	4.000000e-12
GCST006291_108	Spherical equivalent or myopia (age of diagnosis)	1.000000e-17
GCST008158_131	Body mass index	8.000000e-06
GCST010002_122	Refractive error	7.000000e-44
GCST90002401_587	Platelet distribution width	1.000000e-13

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004847	age at onset
EFO:0004340	body mass index
EFO:0007984	platelet component distribution width

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
trichostatin A	affects cotreatment, decreases expression	3
Cyclosporine	decreases expression	3
bisphenol A	affects expression, increases expression	2
Valproic Acid	affects expression, decreases expression	2
Particulate Matter	decreases reaction, increases expression, decreases expression, increases abundance	2
pirinixic acid	affects binding, decreases expression, increases activity	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	increases expression	1
potassium chromate(VI)	increases expression	1
pentanal	increases expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases reaction, increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Vehicle Emissions	decreases reaction, increases expression	1
Benzo(a)pyrene	decreases methylation, affects methylation	1
Cisplatin	increases expression	1
Cytarabine	decreases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Diazinon	increases methylation	1
Estradiol	decreases expression	1
Folic Acid	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E2MB	HAP1 TMEM98 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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