ABI3BP

Summary

ABI3BP (ABI family member 3 binding protein, HGNC:17265) is a protein-coding gene on chromosome 3q12.2, encoding Target of Nesh-SH3 (Q7Z7G0).

Predicted to enable actin filament binding activity. Predicted to be involved in several processes, including extracellular matrix organization; positive regulation of cell-substrate adhesion; and regulation of postsynapse organization. Located in collagen-containing extracellular matrix and extracellular space.

Source: NCBI Gene 25890 — RefSeq curated summary.

At a glance

• GWAS associations: 19
• Clinical variants (ClinVar): 192 total — 1 likely-pathogenic
• MANE Select transcript: NM_001375547

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17265
Approved symbol	ABI3BP
Name	ABI family member 3 binding protein
Location	3q12.2
Locus type	gene with protein product
Status	Approved
Aliases	NESHBP, DKFZP586L2024, TARSH
Ensembl gene	ENSG00000154175
Ensembl biotype	protein_coding
OMIM	606279
Entrez	25890

Gene structure

Transcript identifiers

Ensembl transcripts: 86 — 78 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000284322, ENST00000459682, ENST00000466947, ENST00000469764, ENST00000470336, ENST00000471714, ENST00000471901, ENST00000475896, ENST00000478235, ENST00000482765, ENST00000483129, ENST00000486770, ENST00000487012, ENST00000487249, ENST00000495063, ENST00000495591, ENST00000497021, ENST00000497395, ENST00000527258, ENST00000527943, ENST00000528305, ENST00000528490, ENST00000530236, ENST00000530539, ENST00000532144, ENST00000533795, ENST00000533855, ENST00000534413, ENST00000710654, ENST00000882196, ENST00000882197, ENST00000882198, ENST00000882199, ENST00000882200, ENST00000882201, ENST00000882202, ENST00000882203, ENST00000882204, ENST00000882205, ENST00000882206, ENST00000882207, ENST00000882208, ENST00000882209, ENST00000882210, ENST00000882211, ENST00000882212, ENST00000882213, ENST00000882214, ENST00000882215, ENST00000882216, ENST00000882217, ENST00000882218, ENST00000882219, ENST00000882220, ENST00000882221, ENST00000882222, ENST00000882223, ENST00000882224, ENST00000882225, ENST00000882226, ENST00000882227, ENST00000882228, ENST00000882229, ENST00000882230, ENST00000882231, ENST00000882232, ENST00000882233, ENST00000882234, ENST00000882235, ENST00000882236, ENST00000882237, ENST00000882238, ENST00000882239, ENST00000950960, ENST00000950961, ENST00000950962, ENST00000950963, ENST00000950964, ENST00000950965, ENST00000950966, ENST00000950967, ENST00000950968, ENST00000950969, ENST00000950970, ENST00000950971, ENST00000950972

RefSeq mRNA: 11 — MANE Select: NM_001375547 NM_001349329, NM_001349330, NM_001349331, NM_001349332, NM_001365642, NM_001365643, NM_001375547, NM_001375549, NM_001375550, NM_001377332, NM_015429

CCDS: CCDS46880, CCDS93332, CCDS93333, CCDS93334

Canonical transcript exons

ENST00000471714 — 68 exons

Exon	Start	End
ENSE00001360773	100846372	100846446
ENSE00001371524	100848801	100848875
ENSE00001386260	100847602	100847673
ENSE00001388460	100851875	100851940
ENSE00001389358	100864833	100864907
ENSE00001389392	100850660	100850734
ENSE00001498123	100817436	100817495
ENSE00001498124	100818525	100818581
ENSE00001498131	100840072	100840164
ENSE00001498134	100862838	100862909
ENSE00001498135	100864002	100864076
ENSE00001619922	100815912	100815971
ENSE00001762481	100816688	100816768
ENSE00001826246	100749156	100750610
ENSE00002143982	100993306	100993421
ENSE00002172180	100795804	100795851
ENSE00002336792	100812467	100812523
ENSE00002355249	100811230	100811277
ENSE00002355396	100821054	100821113
ENSE00002369377	100820220	100820303
ENSE00002391355	100811728	100811799
ENSE00002392044	100810412	100810477
ENSE00003465358	100808161	100808235
ENSE00003486522	100765841	100765949
ENSE00003487063	100752787	100752948
ENSE00003502513	100754612	100754691
ENSE00003507336	100885536	100885588
ENSE00003509447	100838402	100838464
ENSE00003509505	100830578	100830634
ENSE00003513417	100822589	100822672
ENSE00003517506	100780132	100780209
ENSE00003517786	100787728	100787802
ENSE00003521062	100902618	100902686
ENSE00003523016	100751552	100751674
ENSE00003524034	100838210	100838284
ENSE00003524225	100775207	100775335
ENSE00003525397	100829581	100829664
ENSE00003527099	100898762	100898894
ENSE00003531721	100778284	100778376
ENSE00003548271	100774605	100774673
ENSE00003554414	100835601	100835660
ENSE00003557383	100833125	100833157
ENSE00003560488	100866879	100866956
ENSE00003563569	100824858	100824941
ENSE00003563636	100875508	100875579
ENSE00003567501	100789454	100789516
ENSE00003584117	100753819	100753848
ENSE00003585205	100834684	100834773
ENSE00003592706	100926302	100926481
ENSE00003593018	100823458	100823514
ENSE00003616871	100841998	100842039
ENSE00003620152	100876512	100876560
ENSE00003632898	100792691	100792768
ENSE00003636506	100770743	100770952
ENSE00003636697	100825785	100825844
ENSE00003647692	100839569	100839616
ENSE00003648524	100796409	100796468
ENSE00003653507	100874841	100874933
ENSE00003667328	100804792	100804866
ENSE00003691225	100840820	100840858
ENSE00003784731	100837124	100837171
ENSE00003785154	100850045	100850119
ENSE00003785685	100813661	100813735
ENSE00003786133	100862311	100862385
ENSE00003786224	100886142	100886323
ENSE00003786852	100794923	100795003
ENSE00003787905	100832264	100832350
ENSE00003790050	100828393	100828452

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 99.73.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.3369 / max 1967.5071, expressed in 956 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
43528	18.2474	782
43529	13.4264	911
43518	0.3760	174
43493	0.2987	139
43530	0.2418	119
43512	0.2021	95
43516	0.1899	80
43498	0.1609	71
43517	0.0926	34
43503	0.0532	18

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
decidua	UBERON:0002450	99.73	gold quality
synovial joint	UBERON:0002217	99.56	gold quality
calcaneal tendon	UBERON:0003701	98.99	gold quality
vena cava	UBERON:0004087	98.88	gold quality
skin of hip	UBERON:0001554	98.74	gold quality
colonic epithelium	UBERON:0000397	98.69	gold quality
saphenous vein	UBERON:0007318	98.68	gold quality
superficial temporal artery	UBERON:0001614	98.30	gold quality
parietal pleura	UBERON:0002400	98.29	gold quality
urethra	UBERON:0000057	98.27	gold quality
gall bladder	UBERON:0002110	98.27	gold quality
right coronary artery	UBERON:0001625	98.01	gold quality
mucosa of stomach	UBERON:0001199	97.36	gold quality
popliteal artery	UBERON:0002250	97.06	gold quality
tibial artery	UBERON:0007610	97.06	gold quality
artery	UBERON:0001637	97.01	gold quality
pericardium	UBERON:0002407	96.91	gold quality
right lung	UBERON:0002167	96.75	gold quality
coronary artery	UBERON:0001621	96.57	gold quality
left coronary artery	UBERON:0001626	96.40	gold quality
upper lobe of lung	UBERON:0008948	96.30	gold quality
upper lobe of left lung	UBERON:0008952	96.30	gold quality
tendon	UBERON:0000043	96.04	gold quality
right uterine tube	UBERON:0001302	96.00	gold quality
lower lobe of lung	UBERON:0008949	95.98	gold quality
dorsal root ganglion	UBERON:0000044	95.58	gold quality
penis	UBERON:0000989	95.47	gold quality
mammalian vulva	UBERON:0000997	95.45	gold quality
visceral pleura	UBERON:0002401	95.31	gold quality
right ovary	UBERON:0002118	95.26	gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-HCAD-23	yes	5177.80
E-MTAB-10137	yes	449.96
E-MTAB-9543	yes	19.88
E-MTAB-5061	yes	9.66
E-CURD-112	yes	6.57
E-GEOD-81608	yes	4.73
E-GEOD-130148	yes	4.35
E-ENAD-27	yes	4.31
E-MTAB-6678	yes	3.96
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP53

Literature-anchored findings (GeneRIF, showing 9)

• Thus, TARSH presumably represents a trigger gene for evoking cellular senescence, which has also been suggested to be involved in the prevention of tumorigenesis. (PMID:15752759)
• expression of TARSH mRNA is remarkably downregulated in all lung cancer cell lines examined; also TARSH expression was significantly low in all of the tumor specimens when compared to the expression in corresponding non-neoplastic lung tissue specimens (PMID:16205947)
• The loss of ABI3BP expression could play a functional role in thyroid tumorigenesis. (PMID:18559958)
• These results suggest that TARSH plays an important role in proliferation of replicative senescence and may serve as a trigger of tumor development. (PMID:19338757)
• ABI3BP is a susceptibility gene for Kashin-Beck disease in the Chinese Han population. (PMID:24442417)
• The current study clarifies that MALAT1 silencing and ABI3BP elevation impede the GBC development through the H3K27 methylation suppression induced by EZH2, highlighting a promising competitive paradigm for therapeutic approaches of GBC. (PMID:31174563)
• The Depletion of ABI3BP by MicroRNA-183 Promotes the Development of Esophageal Carcinoma. (PMID:32774142)
• A Potential Four-Gene Signature and Nomogram for Predicting the Overall Survival of Papillary Thyroid Cancer. (PMID:36193505)
• Antiviral Effect of Extracellular Matrix Protein ABI3BP on Vesicular Stomatitis Virus and Its Mechanism: A Preliminary Study In Vitro. (PMID:38384000)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	abi3bpa	ENSDARG00000062156
danio_rerio	abi3bpb	ENSDARG00000071095
mus_musculus	Abi3bp	ENSMUSG00000035258
rattus_norvegicus	Abi3bp	ENSRNOG00000001627

Paralogs (1): FNDC1 (ENSG00000164694)

Protein

Protein identifiers

Target of Nesh-SH3 — Q7Z7G0 (reviewed: Q7Z7G0)

Alternative names: ABI gene family member 3-binding protein, Nesh-binding protein

All UniProt accessions (22): Q7Z7G0, A0AA34QVJ5, D3YTG3, E9PPR9, E9PRB5, F6R962, H0Y897, H0YCG4, H0YCP4, H0YDN0, H0YEA0, H0YEL2, H0YF18, H0YF57, H7C4H3, H7C4N5, H7C4S3, H7C4T1, H7C4X4, H7C524, H7C556, H7C5S3

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Probably interacts with ABI3.

Subcellular location. Secreted.

Tissue specificity. Expressed in brain, heart, lung, liver, pancreas kidney and placenta.

Disease relevance. Defects in ABI3BP has been found in a patient with isolated coloboma, a defect of the eye characterized by the absence of ocular structures due to abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Isolated colobomas may be associated with an abnormally small eye (microphthalmia) or small cornea.

Isoforms (4)

UniProt ID	Names	Canonical?
Q7Z7G0-1	1	yes
Q7Z7G0-2	2
Q7Z7G0-3	3
Q7Z7G0-4	4

RefSeq proteins (11): NP_001336258, NP_001336259, NP_001336260, NP_001336261, NP_001352571, NP_001352572, NP_001362476, NP_001362478, NP_001362479, NP_001364261, NP_056244 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003961	FN3_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036116	FN3_sf	Homologous_superfamily
IPR049109	TARSH/FNDC1_C	Domain

Pfam: PF00041, PF21731

UniProt features (22 total): compositionally biased region 10, splice variant 4, domain 2, region of interest 2, signal peptide 1, chain 1, glycosylation site 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z7G0-F1	54.33	0.17

Functional residue map

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

Glycosylation sites (1): 37

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 161 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GGGTGGRR_PAX4_03, HERNANDEZ_MITOTIC_ARREST_BY_DOCETAXEL_1_UP, COUP_01, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, TGCTGAY_UNKNOWN, TCF11_01, HNF4_01, TGACATY_UNKNOWN, LU_TUMOR_VASCULATURE_DN, FREAC4_01

GO Biological Process (5): positive regulation of cell-substrate adhesion (GO:0010811), extracellular matrix organization (GO:0030198), negative regulation of cell population proliferation (GO:0008285), negative regulation of connective tissue replacement involved in inflammatory response wound healing (GO:1904597), positive regulation of cardiocyte differentiation (GO:1905209)

GO Molecular Function (5): extracellular matrix structural constituent (GO:0005201), protein binding (GO:0005515), collagen binding (GO:0005518), glycosaminoglycan binding (GO:0005539), heparin binding (GO:0008201)

GO Cellular Component (4): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), extracellular matrix (GO:0031012), interstitial matrix (GO:0005614)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
extracellular matrix	2
regulation of cell-substrate adhesion	1
cell-substrate adhesion	1
positive regulation of cell adhesion	1
extracellular structure organization	1
external encapsulating structure organization	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
connective tissue replacement involved in inflammatory response wound healing	1
negative regulation of connective tissue replacement	1
cardiocyte differentiation	1
positive regulation of cell differentiation	1
positive regulation of multicellular organismal process	1
regulation of cardiocyte differentiation	1
structural molecule activity	1
binding	1
protein-containing complex binding	1
carbohydrate derivative binding	1
glycosaminoglycan binding	1
sulfur compound binding	1
cellular anatomical structure	1
external encapsulating structure	1

Protein interactions and networks

STRING

746 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABI3BP	ABI3	Q9P2A4	998
ABI3BP	ABI1	Q8IZP0	688
ABI3BP	AP5B1	Q2VPB7	451
ABI3BP	TMEM51	Q9NW97	434
ABI3BP	NDUFAF6	Q330K2	413
ABI3BP	AZI2	Q9H6S1	408
ABI3BP	SCARB2	Q14108	400
ABI3BP	PCNP	Q8WW12	381
ABI3BP	TRRAP	Q9Y4A5	366
ABI3BP	DPEP2	Q9H4A9	365
ABI3BP	CLN3	Q13286	357
ABI3BP	MAMDC2	Q7Z304	357
ABI3BP	EPS8	Q12929	350
ABI3BP	FAM180A	Q6UWF9	348
ABI3BP	SBSPON	Q8IVN8	344

IntAct

8 interactions, top by confidence:

A	B	Type	Score
GOT1	ABI3BP	psi-mi:“MI:0915”(physical association)	0.370
ABI3BP	MBNL1	psi-mi:“MI:0915”(physical association)	0.370
FZD5	ABI3BP	psi-mi:“MI:0915”(physical association)	0.370
ABI3BP	CBX1	psi-mi:“MI:0915”(physical association)	0.370
ABI3BP	pilQ	psi-mi:“MI:0915”(physical association)	0.000
parC	ABI3BP	psi-mi:“MI:0915”(physical association)	0.000
ABI3BP	GRB2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (13): ABI3BP (Affinity Capture-MS), ABI3BP (Affinity Capture-MS), ABI3BP (Two-hybrid), ABI3BP (Cross-Linking-MS (XL-MS)), ABI3BP (Proximity Label-MS), ABI3BP (Affinity Capture-MS), RPS18 (Cross-Linking-MS (XL-MS)), ABI3BP (Two-hybrid), ABI3BP (Affinity Capture-MS), GOT1 (Two-hybrid), MBNL1 (Two-hybrid), FZD5 (Two-hybrid), CBX1 (Two-hybrid)

ESM2 similar proteins: A4H220, A4H221, A4H222, A4H223, A4H238, A4H239, A4H240, A4H241, A4H243, A4H244, A4H245, A4H257, A4H258, A4H259, A4H260, O54947, P59647, P97808, Q17R60, Q30KK0, Q30KK1, Q30KK2, Q30KK3, Q30KK9, Q30KL1, Q30KQ4, Q32ZH2, Q3MIW9, Q5FVR0, Q5XI99, Q62170, Q64294, Q6MG22, Q6U7R4, Q7TST5, Q7Z7G0, Q8JZQ0, Q8N687, Q8R183, Q95152

Diamond homologs: A4IGL7, D3YXG0, D3YYU8, F1M0Z1, G5EF96, O15146, O42422, O73878, O75962, P0C6S8, P22607, P42702, P43146, P55144, P70211, P97603, P97798, Q01973, Q0KL02, Q1LUA6, Q3UQ28, Q5DTJ9, Q5RDJ4, Q5VST9, Q61006, Q62838, Q63155, Q63495, Q6GQU6, Q6MZW2, Q6NUX0, Q6PJG9, Q78DX7, Q7Z7G0, Q868Z9, Q86TC9, Q8BJ66, Q90610, Q91147, Q92626

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	148
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	Likely pathogenic

SpliceAI

9718 predictions. Top by Δscore:

Variant	Effect	Δscore
3:100751547:CATA:C	donor_loss	1.0000
3:100751548:ATAC:A	donor_loss	1.0000
3:100751549:TACCT:T	donor_loss	1.0000
3:100751550:ACC:A	donor_loss	1.0000
3:100751551:CCTT:C	donor_gain	1.0000
3:100751684:C:CT	acceptor_gain	1.0000
3:100751685:A:T	acceptor_gain	1.0000
3:100752781:GCTTA:G	donor_loss	1.0000
3:100752782:CTTA:C	donor_loss	1.0000
3:100752783:TTA:T	donor_loss	1.0000
3:100752784:TACCT:T	donor_loss	1.0000
3:100752945:CCTG:C	acceptor_loss	1.0000
3:100752946:CTG:C	acceptor_gain	1.0000
3:100752948:GC:G	acceptor_loss	1.0000
3:100752949:C:CC	acceptor_gain	1.0000
3:100752949:CTAC:C	acceptor_loss	1.0000
3:100752950:T:A	acceptor_loss	1.0000
3:100754607:ATTAC:A	donor_loss	1.0000
3:100754608:TTA:T	donor_loss	1.0000
3:100754609:TA:T	donor_loss	1.0000
3:100754610:ACCT:A	donor_loss	1.0000
3:100754611:C:CT	donor_loss	1.0000
3:100754687:CATAA:C	acceptor_gain	1.0000
3:100754689:TAA:T	acceptor_gain	1.0000
3:100754692:C:CC	acceptor_gain	1.0000
3:100774670:TTTT:T	acceptor_gain	1.0000
3:100778383:T:TC	acceptor_gain	1.0000
3:100787803:C:CC	acceptor_gain	1.0000
3:100822584:TTTA:T	donor_loss	1.0000
3:100822585:TTACC:T	donor_loss	1.0000

AlphaMissense

11445 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:100750498:C:A	W1075C	1.000
3:100750498:C:G	W1075C	1.000
3:100750500:A:G	W1075R	1.000
3:100750500:A:T	W1075R	1.000
3:100750522:A:C	C1067W	1.000
3:100750523:C:G	C1067S	1.000
3:100750524:A:G	C1067R	1.000
3:100750524:A:T	C1067S	1.000
3:100750531:C:A	W1064C	1.000
3:100750531:C:G	W1064C	1.000
3:100750533:A:G	W1064R	1.000
3:100750533:A:T	W1064R	1.000
3:100751619:A:C	F1015L	1.000
3:100751619:A:T	F1015L	1.000
3:100751620:A:C	F1015C	1.000
3:100751620:A:G	F1015S	1.000
3:100751621:A:G	F1015L	1.000
3:100751625:G:C	C1013W	1.000
3:100751626:C:A	C1013F	1.000
3:100751626:C:G	C1013S	1.000
3:100751626:C:T	C1013Y	1.000
3:100751627:A:G	C1013R	1.000
3:100751627:A:T	C1013S	1.000
3:100752830:G:C	C982W	1.000
3:100752831:C:G	C982S	1.000
3:100752831:C:T	C982Y	1.000
3:100752832:A:G	C982R	1.000
3:100752832:A:T	C982S	1.000
3:100752848:A:C	F976L	1.000
3:100752848:A:T	F976L	1.000

dbSNP variants (sampled 300 via entrez): RS1000001664 (3:100881764 TCA>T), RS1000018951 (3:100841622 T>C), RS1000038255 (3:100888529 G>T), RS1000048953 (3:100771395 A>T), RS1000073738 (3:100935122 A>C), RS1000086889 (3:100927622 G>A), RS1000090439 (3:100974178 G>A), RS1000109745 (3:100888821 AT>A,ATT), RS1000120423 (3:100885082 C>G), RS1000133502 (3:100797030 T>C), RS1000140739 (3:100787035 A>C,G), RS1000151537 (3:100845948 G>C), RS1000183067 (3:100897664 T>C), RS1000194909 (3:100966103 T>C), RS1000209636 (3:100876301 C>T)

Disease associations

OMIM: gene MIM:606279 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

19 associations (top):

Study	Trait	p-value
GCST002088_18	Asthma (childhood onset)	6.000000e-08
GCST002263_1	Acute urticaria and angioedema (non-steroidal anti-inflammatory drug-induced)	5.000000e-07
GCST002263_3	Acute urticaria and angioedema (non-steroidal anti-inflammatory drug-induced)	2.000000e-06
GCST002763_14	Optic disc area	5.000000e-07
GCST002763_5	Optic disc area	2.000000e-09
GCST003121_12	Alcohol dependence	5.000000e-06
GCST003263_124	Post bronchodilator FEV1 in COPD	2.000000e-06
GCST003998_6	Joint mobility (Beighton score)	7.000000e-12
GCST004076_18	Optic disc area	5.000000e-12
GCST004076_3	Optic disc area	2.000000e-09
GCST004162_29	Carotid plaque burden	3.000000e-06
GCST005173_79	Coronary artery calcified atherosclerotic plaque (130 HU threshold) in type 2 diabetes	1.000000e-06
GCST009462_24	Optic disc size	4.000000e-26
GCST009597_281	Multiple sclerosis	2.000000e-06
GCST009597_293	Multiple sclerosis	6.000000e-11
GCST009723_50	Vertical cup-disc ratio (adjusted for vertical disc diameter)	9.000000e-10
GCST009724_35	Vertical cup-disc ratio (multi-trait analysis)	9.000000e-12
GCST010002_434	Refractive error	5.000000e-25
GCST90007001_4	Gut microbiota relative abundance (Faecalibacterium)	3.000000e-06

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0005533	response to non-steroidal anti-inflammatory
EFO:0004314	forced expiratory volume
EFO:0007905	joint hypermobility measurement
EFO:0006501	carotid plaque build
EFO:0004723	coronary artery calcification
EFO:0006939	cup-to-disc ratio measurement
EFO:0007874	gut microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation, increases expression	2
trichostatin A	decreases expression, increases expression	2
Arsenic	increases expression, decreases expression, increases abundance	2
Benzo(a)pyrene	decreases expression, decreases methylation	2
Formaldehyde	increases expression	2
Tetrachlorodibenzodioxin	decreases expression, decreases reaction	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
sodium arsenate	increases abundance, increases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
perfluorooctanoic acid	increases expression	1
potassium chromate(VI)	decreases expression	1
nickel sulfate	increases expression	1
triadimefon	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
3-nitrobenzanthrone	increases expression	1
clothianidin	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	increases expression	1
Zoledronic Acid	decreases expression	1
Fulvestrant	increases methylation, affects cotreatment	1
Air Pollutants	decreases expression, increases abundance	1
Cadmium	increases abundance, decreases expression	1
Calcitriol	decreases expression	1
Chromium	decreases expression	1
Dexamethasone	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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