GINS3

Summary

GINS3 (GINS complex subunit 3, HGNC:25851) is a protein-coding gene on chromosome 16q21, encoding DNA replication complex GINS protein PSF3 (Q9BRX5). Required for correct functioning of the GINS complex, a complex that plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. It is a common-essential gene (DepMap: required in 97.5% of cancer cell lines).

This gene encodes a protein subunit of the GINS heterotetrameric complex, which is essential for the initiation of DNA replication and replisome progression in eukaryotes. Alternatively spliced transcript variants encoding distinct isoforms have been described.

Source: NCBI Gene 64785 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Meier-Gorlin syndrome (Strong, GenCC)
• GWAS associations: 10
• Clinical variants (ClinVar): 51 total — 4 pathogenic
• Cancer dependency (DepMap): dependent in 97.5% of screened cell lines (common-essential)
• MANE Select transcript: NM_022770

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25851
Approved symbol	GINS3
Name	GINS complex subunit 3
Location	16q21
Locus type	gene with protein product
Status	Approved
Aliases	FLJ13912, PSF3
Ensembl gene	ENSG00000181938
Ensembl biotype	protein_coding
OMIM	610610
Entrez	64785

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 6 protein_coding_CDS_not_defined, 4 protein_coding, 1 retained_intron

ENST00000318129, ENST00000328514, ENST00000426538, ENST00000561952, ENST00000564814, ENST00000567143, ENST00000567400, ENST00000567432, ENST00000567909, ENST00000568468, ENST00000881379

RefSeq mRNA: 3 — MANE Select: NM_022770 NM_001126129, NM_001126130, NM_022770

CCDS: CCDS10796, CCDS45498, CCDS45499

Canonical transcript exons

ENST00000318129 — 3 exons

Exon	Start	End
ENSE00000000220	58392471	58392787
ENSE00001218868	58403098	58403331
ENSE00001829311	58404499	58406147

Expression profiles

Bgee: expression breadth ubiquitous, 241 present calls, max score 95.20.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.2320 / max 83.3943, expressed in 1596 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
154445	7.6906	1565
207903	0.4038	211
154444	0.0709	25
154442	0.0667	37

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	95.20	gold quality
secondary oocyte	CL:0000655	94.01	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.01	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.13	gold quality
ventricular zone	UBERON:0003053	82.20	gold quality
hair follicle	UBERON:0002073	81.62	silver quality
putamen	UBERON:0001874	81.29	gold quality
ganglionic eminence	UBERON:0004023	81.16	gold quality
caudate nucleus	UBERON:0001873	80.96	gold quality
oviduct epithelium	UBERON:0004804	80.85	gold quality
right adrenal gland	UBERON:0001233	80.47	gold quality
right adrenal gland cortex	UBERON:0035827	80.35	gold quality
testis	UBERON:0000473	79.82	gold quality
cartilage tissue	UBERON:0002418	79.70	gold quality
right testis	UBERON:0004534	79.63	gold quality
nucleus accumbens	UBERON:0001882	79.47	gold quality
left testis	UBERON:0004533	79.37	gold quality
embryo	UBERON:0000922	79.16	gold quality
esophagus mucosa	UBERON:0002469	79.03	gold quality
adrenal tissue	UBERON:0018303	78.94	gold quality
left adrenal gland	UBERON:0001234	78.91	gold quality
left adrenal gland cortex	UBERON:0035825	78.07	gold quality
adrenal gland	UBERON:0002369	77.87	gold quality
apex of heart	UBERON:0002098	77.82	gold quality
adrenal cortex	UBERON:0001235	77.70	gold quality
vagina	UBERON:0000996	77.64	gold quality
heart left ventricle	UBERON:0002084	77.48	gold quality
cardiac ventricle	UBERON:0002082	77.24	gold quality
endometrium	UBERON:0001295	75.75	gold quality
bone marrow	UBERON:0002371	75.70	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-111727	yes	258.55
E-ANND-3	no	4.81

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1

miRNA regulators (miRDB)

90 targeting GINS3, 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-6798-5P	100.00	65.77	699
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-129-5P	99.88	70.26	3273
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-5010-3P	99.83	70.60	2357
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-4679	99.76	69.19	1229
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-4802-3P	99.72	70.13	1273
HSA-MIR-4755-5P	99.71	70.34	2716

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 97.5% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 14)

• This paper describes work done in Saccharomyces cerevisiae. (PMID:12730134)
• This paper describes work done in Schizosaccharomyces pombe. (PMID:16990792)
• expression of mammalian GINS is regulated by 17beta-Estradiol-stimulated estrogen receptor alpha, and PSF3 acts as a gene responsive to transcription factor E2F1 (PMID:17127213)
• This sensitized zebrafish screen identified 15 novel myocardial repolarization genes. Among these genes is GINS3, the human ortholog of which is a major locus in 2 concurrent human genome-wide association studies of QT interval. (PMID:19652097)
• These results suggest that PSF3 is a potential biomarker for diagnosis of progression in colon cancer and could (PMID:20059967)
• a prognostic biomarker in lung adenocarcinoma (PMID:23127337)
• PSF3 expression plays an important role in the progression of colorectal cancer and acts as a factor significantly affecting the prognosis of patients. (PMID:25403684)
• Two downregulated genes, NDRG4 and GINS3, have been located in a genomic interval associated with cardiac repolarization in published GWASs and zebra fish knockout models (PMID:25520251)
• Psf3 expression was strongly correlated with tumor progression in non-small-cell lung cancer (PMID:26291987)
• expression in primary lung adenocarcinoma plays an important role in disease progression and is a prognostic indicator (PMID:27005977)
• The authors show that GINS is a compact tetramer in solution as observed in crystal structures, but also forms a double-tetrameric population, detectable by electron microscopy. (PMID:28071757)
• mRNA expressions of all GINS subunits were significantly up-regulated in hepatocellular carcinoma tumor than in non-tumor liver tissues. (PMID:30413605)
• Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome. (PMID:35603789)
• Combined analysis of expression, prognosis and immune infiltration of GINS family genes in human sarcoma. (PMID:35896011)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	gins3	ENSDARG00000038847
mus_musculus	Gins3	ENSMUSG00000031669
rattus_norvegicus	Gins3	ENSRNOG00000011863
drosophila_melanogaster	Psf3	FBGN0030196
caenorhabditis_elegans	psf-3	WBGENE00022043

Protein

Protein identifiers

DNA replication complex GINS protein PSF3 — Q9BRX5 (reviewed: Q9BRX5)

Alternative names: GINS complex subunit 3

All UniProt accessions (4): Q9BRX5, A0A0S2Z5L0, A0A0S2Z5L4, A0A0S2Z5P2

UniProt curated annotations — full annotation on UniProt →

Function. Required for correct functioning of the GINS complex, a complex that plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. GINS complex is a core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built.

Subunit / interactions. Component of the GINS complex which is a heterotetramer of GINS1, GINS2, GINS3 and GINS4. Forms a stable subcomplex with GINS2. GINS complex interacts with DNA primase in vitro. Component of the CMG helicase complex, a hexameric ring of related MCM2-7 subunits stabilized by CDC45 and the tetrameric GINS complex.

Subcellular location. Nucleus. Chromosome.

Similarity. Belongs to the GINS3/PSF3 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9BRX5-1	1	yes
Q9BRX5-2	2
Q9BRX5-3	3

RefSeq proteins (3): NP_001119601, NP_001119602, NP_073607* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010492	GINS_Psf3	Family
IPR021151	GINS_A	Domain
IPR036224	GINS_bundle-like_dom_sf	Homologous_superfamily
IPR038437	GINS_Psf3_sf	Homologous_superfamily
IPR055221	PSF3_N	Domain

Pfam: PF05916, PF22466

UniProt features (23 total): helix 12, strand 5, turn 2, splice variant 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

10 structures.

PDB	Method	Resolution (Å)
2E9X	X-RAY DIFFRACTION	2.3
2Q9Q	X-RAY DIFFRACTION	2.36
9E2Z	ELECTRON MICROSCOPY	2.6
7PLO	ELECTRON MICROSCOPY	2.8
2EHO	X-RAY DIFFRACTION	3
7PFO	ELECTRON MICROSCOPY	3.2
6XTX	ELECTRON MICROSCOPY	3.29
8B9D	ELECTRON MICROSCOPY	3.4
8OK2	ELECTRON MICROSCOPY	4.1
6XTY	ELECTRON MICROSCOPY	6.77

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BRX5-F1	87.52	0.66

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-176974	Unwinding of DNA

MSigDB gene sets: 181 (showing top): E2F_Q4, REACTOME_DNA_REPLICATION, E2F_Q4_01, E2F4DP1_01, GOBP_GROWTH, GOBP_CELLULAR_SENESCENCE, E2F1DP1_01, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, E2F1DP2_01, GOBP_MULTICELLULAR_ORGANISM_GROWTH, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, chr16q21, TIEN_INTESTINE_PROBIOTICS_24HR_UP, E2F1_Q3

GO Biological Process (3): DNA replication (GO:0006260), multicellular organism growth (GO:0035264), cellular senescence (GO:0090398)

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

GO Cellular Component (5): GINS complex (GO:0000811), nucleus (GO:0005634), nucleoplasm (GO:0005654), CMG complex (GO:0071162), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
DNA strand elongation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nuclear chromosome	2
DNA replication preinitiation complex	2
DNA metabolic process	1
DNA biosynthetic process	1
multicellular organismal process	1
developmental growth	1
cellular process	1
cellular response to stress	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
GINS complex	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1206 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GINS3	GINS2	Q9Y248	999
GINS3	GINS1	Q14691	999
GINS3	GINS4	Q9BRT9	999
GINS3	CDC45	O75419	993
GINS3	TICRR	Q7Z2Z1	848
GINS3	MCM10	Q7L590	818
GINS3	MCM6	Q14566	813
GINS3	MCM4	P33991	812
GINS3	MCM3	P25205	811
GINS3	CDT1	Q9H211	810
GINS3	MCM5	P33992	801
GINS3	TOPBP1	Q92547	790
GINS3	MCM7	P33993	782
GINS3	CDC6	Q99741	775
GINS3	WDHD1	O75717	735

IntAct

80 interactions, top by confidence:

A	B	Type	Score
GINS3	GINS1	psi-mi:“MI:0914”(association)	0.880
GINS1	GINS4	psi-mi:“MI:0915”(physical association)	0.860
GINS1	GINS4	psi-mi:“MI:0914”(association)	0.860
MCM2	MCM4	psi-mi:“MI:0914”(association)	0.830
H2AX	PPM1G	psi-mi:“MI:0914”(association)	0.730
GINS3	VAC14	psi-mi:“MI:0915”(physical association)	0.720
VAC14	GINS3	psi-mi:“MI:0915”(physical association)	0.720
H2BC1	PPM1G	psi-mi:“MI:0914”(association)	0.640
MCM2	GINS3	psi-mi:“MI:0407”(direct interaction)	0.570
GINS3	CTNNA3	psi-mi:“MI:0915”(physical association)	0.560
TRAPPC6A	GINS3	psi-mi:“MI:0915”(physical association)	0.560
SMARCD1	GINS3	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	GINS3	psi-mi:“MI:0915”(physical association)	0.560
KRT80	GINS3	psi-mi:“MI:0915”(physical association)	0.560
GINS3	ICAM5	psi-mi:“MI:0915”(physical association)	0.560
GINS3	UQCRB	psi-mi:“MI:0915”(physical association)	0.560
DNALI1	GINS3	psi-mi:“MI:0915”(physical association)	0.560
BAG6	GINS3	psi-mi:“MI:0915”(physical association)	0.560
KLF11	GINS3	psi-mi:“MI:0915”(physical association)	0.560
NUP58	GINS3	psi-mi:“MI:0915”(physical association)	0.560
DNAJB6	GINS3	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (116): GINS2 (Affinity Capture-MS), MCM7 (Affinity Capture-MS), TIMELESS (Affinity Capture-MS), GINS1 (Affinity Capture-MS), MCM2 (Affinity Capture-MS), GINS4 (Affinity Capture-MS), CLSPN (Affinity Capture-MS), TIPIN (Affinity Capture-MS), GINS1 (Co-fractionation), GINS2 (Co-fractionation), GINS3 (Co-fractionation), GINS3 (Co-fractionation), GINS3 (Co-fractionation), GINS4 (Co-fractionation), GINS3 (Affinity Capture-MS)

ESM2 similar proteins: A1A5Q4, A2AQW0, A2RT67, A2RUS2, D3ZXK7, E9Q401, F1MKX4, F8VPU6, O35099, O54921, O75934, P11881, P29994, P29995, P30957, P32780, Q08E12, Q0VEJ0, Q14571, Q14643, Q14997, Q28DH9, Q3ZC98, Q4QQS8, Q5B714, Q5HYA8, Q5RAX7, Q5RCP7, Q5RDV0, Q5SSW2, Q5ZJK1, Q6DDX8, Q6NXY1, Q6ZN16, Q7ZT01, Q7ZT46, Q7ZV35, Q8N5Y8, Q8R480, Q8TAP6

Diamond homologs: Q08E12, Q5AFK3, Q5RDV0, Q7ZT01, Q9BRX5, Q9CY94, P0CQ32, P0CQ33, Q0UPV4, Q12146, Q2GPK5, Q4IEA5, Q4WQ54, Q54EH6, Q6BYZ4, Q6CPV6, Q6FW66, Q74Z08, Q7S432, Q9UTC3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 51 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Synthesis of DNA	6	50.1×	1e-07
Activation of the pre-replicative complex	5	45.3×	3e-06
DNA Replication Pre-Initiation	5	44.1×	3e-06
Activation of ATR in response to replication stress	5	41.7×	4e-06
DNA Replication	6	39.6×	5e-07
G1/S Transition	5	32.4×	1e-05
S Phase	6	30.2×	2e-06
Mitotic G1 phase and G1/S transition	5	25.6×	4e-05

GO biological processes:

GO term	Partners	Fold	FDR
DNA replication	10	37.5×	1e-11
nucleosome assembly	6	19.1×	4e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	0
Uncertain significance	41
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
4795958	NM_022770.4(GINS3):c.71A>G (p.Asp24Gly)	Pathogenic
4795959	GINS3, ARG82GLN	Pathogenic
4795960	NM_022770.4(GINS3):c.70G>A (p.Asp24Asn)	Pathogenic
4795961	GINS3, ILE25PHE	Pathogenic

SpliceAI

500 predictions. Top by Δscore:

Variant	Effect	Δscore
16:58392788:G:C	donor_loss	1.0000
16:58398906:G:T	donor_gain	1.0000
16:58404494:CCCA:C	acceptor_loss	1.0000
16:58404495:CCA:C	acceptor_loss	1.0000
16:58404496:CAG:C	acceptor_loss	1.0000
16:58404497:A:AG	acceptor_gain	1.0000
16:58404497:A:G	acceptor_loss	1.0000
16:58404498:G:GC	acceptor_loss	1.0000
16:58404498:G:GG	acceptor_gain	1.0000
16:58404498:GA:G	acceptor_gain	1.0000
16:58392788:G:GG	donor_gain	0.9900
16:58398906:G:GT	donor_gain	0.9900
16:58404498:GAC:G	acceptor_gain	0.9900
16:58404498:GACT:G	acceptor_gain	0.9900
16:58404498:GACTT:G	acceptor_gain	0.9900
16:58403086:T:G	acceptor_gain	0.9800
16:58392785:CAG:C	donor_gain	0.9700
16:58403080:C:G	acceptor_gain	0.9700
16:58403096:AG:A	acceptor_gain	0.9700
16:58403097:GG:G	acceptor_gain	0.9700
16:58404489:T:A	acceptor_gain	0.9700
16:58403093:TGCA:T	acceptor_loss	0.9600
16:58403094:GCA:G	acceptor_loss	0.9600
16:58403095:CAG:C	acceptor_loss	0.9600
16:58403097:G:GC	acceptor_loss	0.9600
16:58403339:ATGG:A	donor_gain	0.9600
16:58403073:A:G	acceptor_gain	0.9500
16:58392786:AG:A	donor_gain	0.9400
16:58392787:GG:G	donor_gain	0.9400
16:58403072:A:AG	acceptor_gain	0.9400

AlphaMissense

1423 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:58403122:T:A	W71R	0.998
16:58403122:T:C	W71R	0.998
16:58403270:G:A	G120D	0.998
16:58404511:C:A	R145S	0.997
16:58404645:G:C	W189C	0.997
16:58404645:G:T	W189C	0.997
16:58404512:G:C	R145P	0.996
16:58404643:T:A	W189R	0.996
16:58404643:T:C	W189R	0.996
16:58403185:T:G	Y92D	0.995
16:58403269:G:C	G120R	0.995
16:58404529:G:C	D151H	0.995
16:58404535:T:C	S153P	0.995
16:58404594:G:C	E172D	0.995
16:58404594:G:T	E172D	0.995
16:58403216:C:A	A102E	0.994
16:58404592:G:A	E172K	0.994
16:58404593:A:T	E172V	0.994
16:58404605:T:C	F176S	0.993
16:58404614:G:A	G179E	0.993
16:58404626:T:C	L183P	0.993
16:58403237:T:C	L109P	0.992
16:58403279:T:C	L123P	0.992
16:58403215:G:C	A102P	0.991
16:58403237:T:A	L109H	0.991
16:58404511:C:G	R145G	0.991
16:58404581:T:C	L168P	0.991
16:58404604:T:C	F176L	0.991
16:58404606:T:A	F176L	0.991
16:58404606:T:G	F176L	0.991

dbSNP variants (sampled 300 via entrez): RS1000587386 (16:58400159 A>G), RS1000756066 (16:58392033 C>T), RS1000799545 (16:58397012 G>A), RS1000871482 (16:58401764 A>C), RS1001039962 (16:58390780 T>C), RS1001041551 (16:58399845 A>G), RS1001072169 (16:58406174 A>G), RS1001083517 (16:58405791 C>T), RS1001168229 (16:58395913 C>A,T), RS1001633804 (16:58392153 T>TG), RS1001649055 (16:58403492 TATACACAC>T), RS1001765003 (16:58397613 C>A,T), RS1001907391 (16:58398979 T>A), RS1001949392 (16:58405686 A>T), RS1001959278 (16:58405457 C>G,T)

Disease associations

OMIM: gene MIM:610610 | disease phenotypes: MIM:621512

GenCC curated gene-disease

Disease	Classification	Inheritance
Meier-Gorlin syndrome	Strong	Autosomal recessive

Mondo (2): Meier-Gorlin syndrome 9 (MONDO:0980992), Meier-Gorlin syndrome (MONDO:0016817)

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST000363_9	QT interval	3.000000e-25
GCST010346_49	TPE interval (resting)	6.000000e-09
GCST010796_1909	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-39
GCST010796_1910	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-31
GCST010796_1911	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-37
GCST010796_1912	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-38
GCST010796_1913	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-38
GCST010796_1914	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-18
GCST010796_1915	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-17
GCST011010_59	Electrocardiographic traits (multivariate)	6.000000e-07

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004682	QT interval
EFO:0004644	TPE interval measurement
EFO:0004327	electrocardiography

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C538012	Meier-Gorlin syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
Acetaminophen	decreases expression, increases expression	2
Cisplatin	affects cotreatment, decreases expression, increases expression	2
Oxygen	decreases expression	2
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
Testosterone	increases expression, affects cotreatment, decreases expression	2
Tretinoin	decreases expression	2
Valproic Acid	affects expression, decreases methylation	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression, increases expression	2
Cyclosporine	decreases expression, affects expression	2
GSK-J4	decreases expression	1
TAK-243	affects sumoylation	1
bufotalin	increases expression	1
triphenyl phosphate	affects expression	1
2,2’-methylenebis(4-methyl-6-tert-butylphenol)	affects response to substance, affects expression	1
trichostatin A	affects expression	1
arsenite	affects binding, increases reaction	1
afimoxifene	decreases reaction, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
beta-methylcholine	affects expression	1
polyhexamethyleneguanidine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
deguelin	decreases expression	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
nutlin 3	affects cotreatment, increases secretion	1
ICG 001	increases expression	1
abrine	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04569149	Not specified	RECRUITING	Primordial Dwarfism Registry