GINS2

Summary

GINS2 (GINS complex subunit 2, HGNC:24575) is a protein-coding gene on chromosome 16q24.1, encoding DNA replication complex GINS protein PSF2 (Q9Y248). 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 99.9% of cancer cell lines).

The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1 (GINS1; MIM 610608), Psf2, and Psf3 (GINS3; MIM 610610). The formation of this complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.

Source: NCBI Gene 51659 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Meier-Gorlin syndrome (Limited, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 69 total
• Cancer dependency (DepMap): dependent in 99.9% of screened cell lines (common-essential)
• MANE Select transcript: NM_016095

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24575
Approved symbol	GINS2
Name	GINS complex subunit 2
Location	16q24.1
Locus type	gene with protein product
Status	Approved
Aliases	PSF2, Pfs2
Ensembl gene	ENSG00000131153
Ensembl biotype	protein_coding
OMIM	610609
Entrez	51659

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000253462, ENST00000595355, ENST00000596233, ENST00000919083

RefSeq mRNA: 1 — MANE Select: NM_016095 NM_016095

CCDS: CCDS10953

Canonical transcript exons

ENST00000253462 — 5 exons

Exon	Start	End
ENSE00000897887	85678540	85678666
ENSE00000945758	85681582	85681681
ENSE00001303150	85688809	85688954
ENSE00001305255	85676198	85678337
ENSE00003483937	85687460	85687574

Expression profiles

Bgee: expression breadth ubiquitous, 206 present calls, max score 98.24.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.2513 / max 210.4530, expressed in 1442 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
158403	16.7753	1434
158402	0.4760	293

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	98.24	gold quality
secondary oocyte	CL:0000655	97.25	gold quality
cervix squamous epithelium	UBERON:0006922	92.52	silver quality
ventricular zone	UBERON:0003053	91.90	gold quality
embryo	UBERON:0000922	91.41	gold quality
ganglionic eminence	UBERON:0004023	90.21	gold quality
sperm	CL:0000019	85.23	silver quality
bone marrow	UBERON:0002371	83.60	gold quality
mucosa of transverse colon	UBERON:0004991	83.51	gold quality
male germ cell	CL:0000015	83.11	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.65	gold quality
trabecular bone tissue	UBERON:0002483	82.65	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.61	gold quality
squamous epithelium	UBERON:0006914	80.54	gold quality
gingival epithelium	UBERON:0001949	80.30	silver quality
mucosa of sigmoid colon	UBERON:0004993	79.16	gold quality
colonic mucosa	UBERON:0000317	78.99	gold quality
esophagus squamous epithelium	UBERON:0006920	78.01	gold quality
gingiva	UBERON:0001828	77.22	gold quality
rectum	UBERON:0001052	76.95	gold quality
bone marrow cell	CL:0002092	76.85	gold quality
epithelium of esophagus	UBERON:0001976	76.68	gold quality
epithelium of nasopharynx	UBERON:0001951	75.81	gold quality
right testis	UBERON:0004534	75.81	gold quality
nasopharynx	UBERON:0001728	75.80	gold quality
oral cavity	UBERON:0000167	75.70	gold quality
testis	UBERON:0000473	75.18	gold quality
left testis	UBERON:0004533	75.03	gold quality
hair follicle	UBERON:0002073	74.86	silver quality
triceps brachii	UBERON:0001509	74.77	gold quality

Single-cell (SCXA)

Detected in 15 experiment(s), a significant marker in 13.

Experiment	Marker?	Max mean expression
E-MTAB-9906	yes	364.50
E-CURD-11	yes	331.39
E-MTAB-10485	yes	319.63
E-GEOD-93593	yes	311.83
E-MTAB-11121	yes	234.34
E-MTAB-10662	yes	216.52
E-MTAB-7052	yes	147.77
E-GEOD-99795	yes	128.41
E-ENAD-20	yes	123.61
E-MTAB-8271	yes	113.49
E-CURD-114	yes	111.88
E-HCAD-5	yes	37.60
E-ANND-3	yes	7.40
E-MTAB-6379	no	710.31
E-CURD-112	no	4.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

54 targeting GINS2, 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-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-6833-5P	99.50	68.93	1161
HSA-MIR-4677-3P	99.49	67.91	1246
HSA-MIR-4777-5P	99.33	67.53	1148
HSA-MIR-7109-5P	99.18	66.13	1057

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.9% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 22)

• Data suggest that GINS2 to be associated with the aggressive characteristics of a subgroup of breast cancers in vivo. (PMID:21082043)
• Data show that using a 200-nt primed circular DNA substrate, the combined action of DNA polymerase epsilon and the Cdc45/Mcm2-7/GINS (CMG complex) leads to the formation of products >10 kb in length. (PMID:22474384)
• GINS2 plays an important role in apoptosis and may function via the p38MAPK signaling pathway. (PMID:23589040)
• On the contrary, after HL60 cells were infected by recombinant adenovirus vector which contained GINS2 gene, we observed that over-expression of GINS2 could promote HL-60 cell proliferation. (PMID:24273454)
• High GINS2 transcript level is associated with endocrine therapy resistance in beast cancer. (PMID:25348432)
• silencing of GINS2 in triple negative breast cancer cells caused dramatic decrease of matrix metalloproteinase-9 (MMP9). (PMID:27829549)
• 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)
• GINS2 is overexpressed in cervical cancer.GINS2 is a novel indicator of pelvic lymph node metastasis in cervical cancer. (PMID:28405687)
• GINS2 plays an important role in cell proliferation and apoptosis of thyroid cancer by regulating the expressions of CITED2 and LOXL2, which may be a potential biomarker for diagnosis or prognosis and a drug target for therapy. (PMID:30177819)
• GINS2 is closely related to the occurrence and development of glioma, and is likely to become a prognostic marker for glioma patients, as well as a potential therapeutic target in the treatment of glioma (PMID:30338650)
• mRNA expressions of all GINS subunits were significantly up-regulated in hepatocellular carcinoma tumor than in non-tumor liver tissues. (PMID:30413605)
• GINS2 plays a protective role in alcohol-induced brain injury (PMID:30513217)
• GINS2 facilitates epithelial-to-mesenchymal transition in non-small-cell lung cancer through modulating PI3K/Akt and MEK/ERK signaling. (PMID:31681988)
• Knockdown of GINS2 inhibits proliferation and promotes apoptosis through the p53/GADD45A pathway in non-small-cell lung cancer. (PMID:32181475)
• GINS2 was regulated by lncRNA XIST/miR-23a-3p to mediate proliferation and apoptosis in A375 cells. (PMID:33389496)
• GINS2 affects cell proliferation, apoptosis, migration and invasion in thyroid cancer via regulating MAPK signaling pathway. (PMID:33537829)
• MicroRNA miR-502-5p inhibits ovarian cancer genesis by downregulation of GINS complex subunit 2. (PMID:34288816)
• Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis. (PMID:34353863)
• GINS Complex Subunit 2 Facilitates Gastric Adenocarcinoma Proliferation and Indicates Poor Prognosis. (PMID:34629365)
• GINS2 regulates the proliferation and apoptosis of colon cancer cells through PTP4A1. (PMID:35137928)
• Combined analysis of expression, prognosis and immune infiltration of GINS family genes in human sarcoma. (PMID:35896011)
• GINS2 promotes the progression of human HNSCC by altering RRM2 expression. (PMID:38517779)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	gins2	ENSDARG00000002304
mus_musculus	Gins2	ENSMUSG00000031821
rattus_norvegicus	Gins2	ENSRNOG00000017575
drosophila_melanogaster	Psf2	FBGN0261976
caenorhabditis_elegans	psf-2	WBGENE00009287

Protein

Protein identifiers

DNA replication complex GINS protein PSF2 — Q9Y248 (reviewed: Q9Y248)

Alternative names: GINS complex subunit 2

All UniProt accessions (3): Q9Y248, M0QXS3, M0R043

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 GINS3. 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 GINS2/PSF2 family.

RefSeq proteins (1): NP_057179* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007257	GINS_Psf2	Family
IPR021151	GINS_A	Domain
IPR036224	GINS_bundle-like_dom_sf	Homologous_superfamily
IPR056784	PSF2_N	Domain

Pfam: PF05916, PF25005

UniProt features (21 total): strand 8, helix 7, modified residue 3, chain 1, turn 1, cross-link 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-Q9Y248-F1	93.24	0.85

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 (4): 1, 180, 182, 109

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-176974	Unwinding of DNA

MSigDB gene sets: 236 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GSE45365_NK_CELL_VS_CD8A_DC_DN, GSE45365_NK_CELL_VS_CD11B_DC_UP, REACTOME_DNA_REPLICATION, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GNF2_CENPF, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, FISCHER_G1_S_CELL_CYCLE, GNF2_MCM5, GNF2_RRM1, SHEPARD_BMYB_MORPHOLINO_DN, NIKOLSKY_BREAST_CANCER_16Q24_AMPLICON, GNF2_HMMR, GNF2_SMC4L1

GO Biological Process (2): double-strand break repair via break-induced replication (GO:0000727), DNA replication (GO:0006260)

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

GO Cellular Component (6): GINS complex (GO:0000811), nucleus (GO:0005634), nucleoplasm (GO:0005654), CMG complex (GO:0071162), nuclear chromosome (GO:0000228), 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
nuclear lumen	2
double-strand break repair via homologous recombination	1
DNA metabolic process	1
DNA biosynthetic process	1
binding	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1
GINS complex	1
nucleus	1
chromosome	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1498 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GINS2	GINS4	Q9BRT9	999
GINS2	GINS3	Q9BRX5	999
GINS2	GINS1	Q14691	998
GINS2	CDC45	O75419	841
GINS2	MCM4	P33991	727
GINS2	MCM3	P25205	710
GINS2	CPSF3	Q9UKF6	657
GINS2	CPSF1	Q10570	654
GINS2	MCM5	P33992	627
GINS2	POLE2	P56282	627
GINS2	POLA2	Q14181	612
GINS2	CHEK2	O96017	610
GINS2	MCM10	Q7L590	600
GINS2	CDT1	Q9H211	592
GINS2	MATN3	O15232	588

IntAct

46 interactions, top by confidence:

A	B	Type	Score
GINS3	GINS1	psi-mi:“MI:0914”(association)	0.880
GINS4	GINS2	psi-mi:“MI:0915”(physical association)	0.870
GINS2	GINS4	psi-mi:“MI:0915”(physical association)	0.870
GINS1	GINS4	psi-mi:“MI:0915”(physical association)	0.860
GINS1	GINS4	psi-mi:“MI:0914”(association)	0.860
SIK1	GINS4	psi-mi:“MI:0914”(association)	0.800
H2AX	PPM1G	psi-mi:“MI:0914”(association)	0.730
MCMBP	GINS2	psi-mi:“MI:0915”(physical association)	0.590
MCM7	CEP290	psi-mi:“MI:0914”(association)	0.530
GINS3	MCM7	psi-mi:“MI:0914”(association)	0.530
CSNK1G2	GINS1	psi-mi:“MI:0914”(association)	0.530
PTP4A1	ATE1	psi-mi:“MI:0914”(association)	0.530
MCM7	VPS26A	psi-mi:“MI:0914”(association)	0.530
GINS2	CHEK2	psi-mi:“MI:0915”(physical association)	0.500
GINS2	PML	psi-mi:“MI:0915”(physical association)	0.400
	SCO2	psi-mi:“MI:0915”(physical association)	0.400
CHEK2	BRCA1	psi-mi:“MI:0914”(association)	0.350

BioGRID (83): GINS4 (Two-hybrid), GINS2 (Affinity Capture-MS), GINS2 (Affinity Capture-MS), GINS4 (Two-hybrid), GINS1 (Co-fractionation), GINS2 (Co-fractionation), GINS4 (Co-fractionation), GINS2 (Affinity Capture-MS), GINS2 (Affinity Capture-MS), GINS2 (Affinity Capture-MS), GINS2 (Affinity Capture-MS), GINS2 (Affinity Capture-MS), GINS2 (Affinity Capture-MS), GINS2 (Affinity Capture-MS), GINS4 (Two-hybrid)

ESM2 similar proteins: A0JN61, F1RCP1, O35427, O35473, O35815, O60763, O75575, O88447, O88597, O95453, P41541, P41542, P69341, Q0JNK5, Q13901, Q14457, Q2HJ41, Q32PE4, Q3ZBJ0, Q4A1L3, Q4A1L4, Q4A1L5, Q5R878, Q5RBU4, Q5RE03, Q5ZHS3, Q5ZKS6, Q60482, Q6GMH0, Q6GP52, Q6N069, Q6PDL0, Q7TSU0, Q80UM3, Q84WK5, Q8BM39, Q8N2Z9, Q8VHM6, Q91XJ1, Q92889

Diamond homologs: O62193, O94329, P0CQ30, P0CQ31, Q54BL9, Q6FS76, Q7ZT46, Q8IHI1, Q9C7A8, Q9D600, Q9VQY9, Q9Y248, P40359, Q0UTE1, Q4IC11, Q59MA3, Q6BZ44, Q6C5R2, Q6CRT8, Q75A06, Q7SAA9, Q5B0M9, Q1DNY1, Q2UEN6, Q4X161, Q8SV74

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 37 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
Cell Cycle	6	7.2×	1e-02

GO biological processes:

GO term	Partners	Fold	FDR
DNA replication	7	32.1×	5e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	57
Likely benign	1
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

617 predictions. Top by Δscore:

Variant	Effect	Δscore
16:85678333:TCCAG:T	acceptor_gain	1.0000
16:85678334:CCAG:C	acceptor_gain	1.0000
16:85678334:CCAGC:C	acceptor_gain	1.0000
16:85678335:CAG:C	acceptor_gain	1.0000
16:85678335:CAGC:C	acceptor_gain	1.0000
16:85678338:C:CC	acceptor_gain	1.0000
16:85678535:CCTA:C	donor_loss	1.0000
16:85678536:CTAC:C	donor_loss	1.0000
16:85678537:TA:T	donor_loss	1.0000
16:85678538:A:AG	donor_loss	1.0000
16:85678539:C:CT	donor_loss	1.0000
16:85678664:GCA:G	acceptor_gain	1.0000
16:85678665:CA:C	acceptor_gain	1.0000
16:85678665:CAC:C	acceptor_gain	1.0000
16:85678667:C:CC	acceptor_gain	1.0000
16:85681574:CTACT:C	donor_loss	1.0000
16:85681575:TACTT:T	donor_loss	1.0000
16:85681576:ACTTA:A	donor_loss	1.0000
16:85681577:CT:C	donor_loss	1.0000
16:85681578:TTA:T	donor_loss	1.0000
16:85681579:TA:T	donor_loss	1.0000
16:85681580:A:AC	donor_gain	1.0000
16:85681580:A:T	donor_loss	1.0000
16:85681581:C:CC	donor_gain	1.0000
16:85681581:CT:C	donor_gain	1.0000
16:85681581:CTG:C	donor_gain	1.0000
16:85681581:CTGA:C	donor_gain	1.0000
16:85681581:CTGAT:C	donor_gain	1.0000
16:85681677:CTTTT:C	acceptor_gain	1.0000
16:85688803:CCTCA:C	donor_loss	1.0000

AlphaMissense

1230 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:85687526:A:G	W47R	0.999
16:85687526:A:T	W47R	0.999
16:85678602:G:T	R124S	0.998
16:85687472:A:G	W65R	0.998
16:85687472:A:T	W65R	0.998
16:85687510:A:G	L52P	0.998
16:85678601:C:G	R124P	0.997
16:85688843:G:T	P19H	0.997
16:85687493:A:G	C58R	0.996
16:85688870:G:T	A10D	0.995
16:85688875:G:C	F8L	0.995
16:85688875:G:T	F8L	0.995
16:85688877:A:G	F8L	0.995
16:85678589:A:G	L128P	0.994
16:85687491:A:C	C58W	0.994
16:85687519:G:T	A49E	0.994
16:85687524:C:A	W47C	0.994
16:85687524:C:G	W47C	0.994
16:85678608:C:G	D122H	0.993
16:85687558:A:G	F36S	0.993
16:85678601:C:A	R124L	0.992
16:85678602:G:C	R124G	0.992
16:85687565:C:G	G34R	0.992
16:85687565:C:T	G34R	0.992
16:85688843:G:C	P19R	0.992
16:85678591:T:A	K127N	0.991
16:85678591:T:G	K127N	0.991
16:85687470:C:A	W65C	0.991
16:85687470:C:G	W65C	0.991
16:85688849:A:T	I17N	0.991

dbSNP variants (sampled 300 via entrez): RS1000350220 (16:85676179 A>C,G), RS1000378640 (16:85685660 G>C), RS1000783555 (16:85682563 A>G), RS1000810133 (16:85686563 C>G), RS1000849249 (16:85681885 A>C,G,T), RS1000880126 (16:85685745 G>A), RS1000937228 (16:85678771 CAGAA>C), RS1000965449 (16:85682756 C>A,G), RS1000995429 (16:85679114 G>A,C), RS1001179357 (16:85689314 C>A), RS1001496798 (16:85689135 C>A,G), RS1001591074 (16:85675814 A>C), RS1001742174 (16:85679648 G>A), RS1001759361 (16:85689049 G>A,T), RS1001880683 (16:85679448 C>T)

Disease associations

OMIM: gene MIM:610609 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
Meier-Gorlin syndrome	Limited	Autosomal recessive

Mondo (1): Meier-Gorlin syndrome (MONDO:0016817)

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST009615_18	Triglyceride levels x loop diuretics use interaction	3.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement

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

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases expression, affects methylation, decreases expression	5
bisphenol A	affects expression, decreases expression, increases expression, affects cotreatment	4
sodium arsenite	affects expression, affects methylation, decreases expression, increases expression	4
Cyclosporine	decreases expression	3
(+)-JQ1 compound	decreases expression	2
Acetaminophen	decreases expression, increases expression	2
Cisplatin	affects reaction, decreases expression, increases expression	2
Estradiol	increases expression	2
Tobacco Smoke Pollution	decreases methylation, decreases expression	2
Tretinoin	decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
afuresertib	decreases expression	1
FR900359	increases phosphorylation	1
methylmercuric chloride	decreases expression	1
propionaldehyde	decreases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
2,2’-methylenebis(4-methyl-6-tert-butylphenol)	affects expression, affects response to substance	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
periodate-oxidized adenosine	affects expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	increases expression, affects cotreatment	1
nickel sulfate	increases expression	1
coumarin	increases phosphorylation	1
phenethyl isothiocyanate	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
deguelin	decreases expression	1
K 7174	decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	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