TICRR

Summary

TICRR (TOPBP1 interacting checkpoint and replication regulator, HGNC:28704) is a protein-coding gene on chromosome 15q26.1, encoding Treslin (Q7Z2Z1). Regulator of DNA replication and S/M and G2/M checkpoints. It is a common-essential gene (DepMap: required in 99.7% of cancer cell lines).

Enables chromatin binding activity. Involved in regulation of DNA-templated DNA replication initiation. Located in cytosol and nucleoplasm.

Source: NCBI Gene 90381 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 187 total
• Cancer dependency (DepMap): dependent in 99.7% of screened cell lines (common-essential)
• MANE Select transcript: NM_152259

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28704
Approved symbol	TICRR
Name	TOPBP1 interacting checkpoint and replication regulator
Location	15q26.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC45866, FLJ41618, Treslin, SLD3
Ensembl gene	ENSG00000140534
Ensembl biotype	protein_coding
OMIM	613298
Entrez	90381

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 nonsense_mediated_decay

ENST00000268138, ENST00000560985, ENST00000561095, ENST00000929580, ENST00000929581

RefSeq mRNA: 2 — MANE Select: NM_152259 NM_001308025, NM_152259

CCDS: CCDS10352, CCDS76791

Canonical transcript exons

ENST00000268138 — 22 exons

Exon	Start	End
ENSE00001375379	89626956	89628023
ENSE00001388332	89625936	89626061
ENSE00001597693	89606768	89606825
ENSE00001615449	89616405	89616495
ENSE00001641280	89619708	89619842
ENSE00001648569	89595393	89595611
ENSE00001657277	89601489	89601568
ENSE00001669630	89594415	89594554
ENSE00001670053	89601737	89601976
ENSE00001700505	89602796	89602892
ENSE00001708354	89623623	89625786
ENSE00001713560	89621393	89621550
ENSE00001728425	89608803	89608949
ENSE00001741618	89600585	89600685
ENSE00001744421	89584286	89584527
ENSE00001747093	89599324	89599475
ENSE00001749366	89601298	89601391
ENSE00001754203	89585708	89585942
ENSE00001767612	89592047	89592176
ENSE00001787143	89582686	89582965
ENSE00001794892	89618152	89618210
ENSE00001796591	89575469	89576240

Expression profiles

Bgee: expression breadth ubiquitous, 155 present calls, max score 92.81.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.8720 / max 113.0216, expressed in 1048 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
148365	4.0173	916
148364	2.8547	865

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	92.81	gold quality
oocyte	CL:0000023	91.71	gold quality
ventricular zone	UBERON:0003053	88.00	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.44	gold quality
ganglionic eminence	UBERON:0004023	81.28	gold quality
lower esophagus mucosa	UBERON:0035834	76.02	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.55	gold quality
esophagus mucosa	UBERON:0002469	74.61	gold quality
stromal cell of endometrium	CL:0002255	73.98	gold quality
myocardium	UBERON:0002349	73.09	gold quality
mucosa of transverse colon	UBERON:0004991	70.52	gold quality
esophagus	UBERON:0001043	70.51	gold quality
superficial temporal artery	UBERON:0001614	70.45	gold quality
bone marrow cell	CL:0002092	68.79	silver quality
mucosa of paranasal sinus	UBERON:0005030	67.54	gold quality
mucosa of stomach	UBERON:0001199	67.40	gold quality
lower esophagus muscularis layer	UBERON:0035833	66.14	gold quality
lower esophagus	UBERON:0013473	66.13	gold quality
ascending aorta	UBERON:0001496	65.91	gold quality
thoracic aorta	UBERON:0001515	65.72	gold quality
left ovary	UBERON:0002119	65.69	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	65.62	gold quality
vagina	UBERON:0000996	65.41	gold quality
right ovary	UBERON:0002118	65.28	gold quality
cortical plate	UBERON:0005343	65.10	gold quality
rectum	UBERON:0001052	64.92	gold quality
ectocervix	UBERON:0012249	64.82	gold quality
bone marrow	UBERON:0002371	64.65	gold quality
subcutaneous adipose tissue	UBERON:0002190	64.42	gold quality
gingival epithelium	UBERON:0001949	64.33	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.64

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

35 targeting TICRR, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-5197-5P	99.64	69.08	1494
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-4316	99.37	65.75	1360
HSA-MIR-7515	99.31	68.22	1795
HSA-MIR-6761-5P	98.71	68.03	1504
HSA-MIR-4266	98.53	67.29	1035
HSA-MIR-6864-5P	98.38	66.59	1079
HSA-MIR-4704-3P	98.28	69.33	1300
HSA-MIR-3652	97.71	65.43	1890
HSA-MIR-6783-5P	97.67	67.21	1528
HSA-MIR-6793-3P	97.66	65.78	1084
HSA-MIR-665	97.60	65.64	1781

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.7% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 16)

• TICRR acts in association with TopBP1 and plays an essential role in preinitiation complex formation [TICRR = TopBP1-interacting, checkpoint, and replication regulator] (PMID:20080954)
• Results indicate that Treslin and TopBP1 collaborate in the Cdk2-mediated loading of Cdc45 onto replication origins; treslin regulates a pivotal step in the initiation of DNA replication in vertebrates. (PMID:20116089)
• Results indicate that Cdk-mediated phosphorylation of Treslin during S phase is necessary for both its effective association with TopBP1 and its ability to promote DNA replication in human cells. (PMID:21646402)
• Treslin is a dual replication/checkpoint protein that directly participates in ATR-mediated checkpoint signaling (PMID:23696651)
• MTBP acts with Treslin/TICRR to integrate signals from cell cycle and DNA damage response pathways to control the initiation of DNA replication in human cells. (PMID:23704573)
• phosphorylated TICRR is limiting for S-phase progression (PMID:25737283)
• these data uncover two distinct mechanisms by which mutp53 enhances DNA replication: (i) Both contact and conformational mutp53s can bind TopBP1 and attenuate the checkpoint response to replication stress, and (ii) during normal growth, contact (but not conformational) mutp53s can override the Cdk2 requirement to promote replication by facilitating the TopBP1/Treslin interaction. (PMID:28439015)
• Variation at rs12913965 may affect the risk for shoulder dislocation by affecting the activity of either TICRR or ISG20. (PMID:28521375)
• The extended S phase in Ensa-depleted cells is completely rescued by the overexpression of Treslin. (PMID:28785014)
• The conserved C-terminal domain of DUE-B is required for its binding to TopBP1, Treslin, Cdc45, and the MCM2-7 complex, as well as for the efficient loading of Treslin, Cdc45, and TopBP1 on chromatin (PMID:30037903)
• Binding of the Treslin-MTBP Complex to Specific Regions of the Human Genome Promotes the Initiation of DNA Replication. (PMID:32966791)
• Overexpression of TICRR and PPIF confer poor prognosis in endometrial cancer identified by gene co-expression network analysis. (PMID:33495413)
• The CRL4DTL E3 ligase induces degradation of the DNA replication initiation factor TICRR/TRESLIN specifically during S phase. (PMID:34534348)
• Refining the domain architecture model of the replication origin firing factor Treslin/TICRR. (PMID:35091422)
• Oncogenic circTICRR suppresses autophagy via binding to HuR protein and stabilizing GLUD1 mRNA in cervical cancer. (PMID:35595754)
• Identification of hub genes and their correlation with infiltration of immune cells in MYCN positive neuroblastoma based on WGCNA and LASSO algorithm. (PMID:36311753)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ticrr	ENSMUSG00000046591
rattus_norvegicus	Ticrr	ENSRNOG00000015520
caenorhabditis_elegans	tres-1	WBGENE00022750

Protein

Protein identifiers

Treslin — Q7Z2Z1 (reviewed: Q7Z2Z1)

Alternative names: TopBP1-interacting checkpoint and replication regulator, TopBP1-interacting, replication-stimulating protein

All UniProt accessions (2): Q7Z2Z1, H0YN97

UniProt curated annotations — full annotation on UniProt →

Function. Regulator of DNA replication and S/M and G2/M checkpoints. Regulates the triggering of DNA replication initiation via its interaction with TOPBP1 by participating in CDK2-mediated loading of CDC45L onto replication origins. Required for the transition from pre-replication complex (pre-RC) to pre-initiation complex (pre-IC). Required to prevent mitotic entry after treatment with ionizing radiation.

Subunit / interactions. Interacts with TOPBP1 (via BRCT domains); interaction takes place in a CDK2-dependent manner. Component of the replisome complex composed of at least DONSON, MCM2, MCM7, PCNA and TICRR.

Subcellular location. Nucleus.

Similarity. Belongs to the treslin family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q7Z2Z1-1	1	yes
Q7Z2Z1-2	2

RefSeq proteins (2): NP_001294954, NP_689472* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026153	Treslin	Family
IPR032746	Treslin_M	Domain
IPR053919	Treslin_N	Domain
IPR053920	Treslin_STD	Domain

Pfam: PF15292, PF21854, PF21855

UniProt features (59 total): modified residue 18, region of interest 12, compositionally biased region 12, sequence variant 8, sequence conflict 7, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z2Z1-F1	48.31	0.01

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 (18): 292, 441, 599, 820, 838, 865, 923, 938, 1001, 1026, 1057, 1078, 1125, 1134, 1141, 1307, 1413, 1484

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-69273	Cyclin A/B1/B2 associated events during G2/M transition

MSigDB gene sets: 148 (showing top): GOBP_RESPONSE_TO_IONIZING_RADIATION, GOBP_REGULATION_OF_DNA_TEMPLATED_DNA_REPLICATION, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_MITOTIC_G2_M_TRANSITION_CHECKPOINT, GOBP_REGULATION_OF_CELL_CYCLE_G2_M_PHASE_TRANSITION, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_MITOTIC_G2_DNA_DAMAGE_CHECKPOINT_SIGNALING, GOBP_NEGATIVE_REGULATION_OF_MITOTIC_CELL_CYCLE, GOBP_DNA_DAMAGE_RESPONSE, GOBP_RESPONSE_TO_RADIATION, GOBP_MITOTIC_DNA_INTEGRITY_CHECKPOINT_SIGNALING, GOBP_MITOTIC_CELL_CYCLE, GOBP_CELL_CYCLE_G2_M_PHASE_TRANSITION

GO Biological Process (7): DNA replication (GO:0006260), DNA repair (GO:0006281), mitotic G2 DNA damage checkpoint signaling (GO:0007095), response to ionizing radiation (GO:0010212), regulation of DNA-templated DNA replication initiation (GO:0030174), mitotic DNA replication checkpoint signaling (GO:0033314), DNA damage response (GO:0006974)

GO Molecular Function (2): chromatin binding (GO:0003682), protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
G2/M Transition	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA metabolic process	2
mitotic G2/M transition checkpoint	2
binding	2
cellular anatomical structure	2
DNA biosynthetic process	1
DNA damage response	1
mitotic G2 phase	1
mitotic DNA damage checkpoint signaling	1
response to radiation	1
DNA replication initiation	1
regulation of DNA-templated DNA replication	1
DNA replication checkpoint signaling	1
mitotic cell cycle	1
mitotic DNA integrity checkpoint signaling	1
cellular response to stress	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1

Protein interactions and networks

STRING

3264 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TICRR	TOPBP1	Q92547	999
TICRR	DBF4	Q9UBU7	979
TICRR	CDC45	O75419	977
TICRR	MTBP	Q96DY7	964
TICRR	RECQL4	O94761	958
TICRR	MCM10	Q7L590	942
TICRR	CDC7	O00311	916
TICRR	MCM4	P33991	908
TICRR	GINS4	Q9BRT9	875
TICRR	GINS3	Q9BRX5	848
TICRR	CHEK1	O14757	820
TICRR	CHEK2	O96017	738
TICRR	BRD2	P25440	732
TICRR	CDT1	Q9H211	722
TICRR	RAD52	P43351	714

IntAct

17 interactions, top by confidence:

A	B	Type	Score
YWHAQ	WDR62	psi-mi:“MI:0914”(association)	0.830
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
TICRR	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
Ptpn23	UMAD1	psi-mi:“MI:0914”(association)	0.350
EGLN3	FAM168B	psi-mi:“MI:0914”(association)	0.350
MKI67	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
H2BC21	SMCHD1	psi-mi:“MI:0914”(association)	0.350
MIF	BLTP3B	psi-mi:“MI:0914”(association)	0.350
YWHAB	BRAF	psi-mi:“MI:0914”(association)	0.350
YWHAE	DEPDC5	psi-mi:“MI:0914”(association)	0.350
YWHAG	BRAF	psi-mi:“MI:0914”(association)	0.350
YWHAH	BRAF	psi-mi:“MI:0914”(association)	0.350
CCNA2	TBC1D4	psi-mi:“MI:0914”(association)	0.350
AFG2A	ESYT2	psi-mi:“MI:0914”(association)	0.350
AFG2B	MMP24OS	psi-mi:“MI:0914”(association)	0.350

BioGRID (55): TICRR (Affinity Capture-MS), TICRR (Affinity Capture-MS), TICRR (Affinity Capture-MS), TICRR (Affinity Capture-MS), TICRR (Affinity Capture-MS), TICRR (Affinity Capture-MS), TICRR (Affinity Capture-Western), TICRR (Affinity Capture-Western), MTBP (Affinity Capture-Western), TICRR (Affinity Capture-Western), TICRR (Affinity Capture-Western), TICRR (Affinity Capture-RNA), TICRR (Reconstituted Complex), TICRR (Proximity Label-MS), TICRR (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8ENT6, A2BGP7, A2CJ06, B1H1W9, F6RRD7, O00124, O55036, P54274, Q1LV50, Q1LWH4, Q1T7B8, Q28HU3, Q3KNJ2, Q3U1D0, Q3US16, Q4KLN8, Q4V832, Q5I0E6, Q5I2W8, Q5NVA9, Q5RA37, Q5RET9, Q5XI46, Q5ZIN2, Q6AYI4, Q6DRL4, Q6IQ49, Q6IRN0, Q6NV18, Q6P1H6, Q7Z2Z1, Q7Z4M0, Q8BJW7, Q8BKT3, Q8BMG1, Q8BMI4, Q8BQ33, Q8IXW5, Q8K1J5, Q8VC34

Diamond homologs: D3IUT5, Q6DRL4, Q7Z2Z1, Q8BQ33

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
CHEK1	“down-regulates activity”	TICRR	phosphorylation
CyclinE/CDK2	“up-regulates activity”	TICRR	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 26 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
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	276.6×	2e-14
Activation of BAD and translocation to mitochondria	6	268.7×	2e-12
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	6	237.1×	3e-12
Activation of BH3-only proteins	6	175.2×	2e-11
RHO GTPases activate PKNs	6	112.0×	3e-10
Intrinsic Pathway for Apoptosis	6	103.3×	4e-10
Translocation of SLC2A4 (GLUT4) to the plasma membrane	7	63.5×	3e-10
SARS-CoV-1-host interactions	6	62.0×	9e-09

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	83.3×	7e-07
intracellular protein localization	6	28.6×	5e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	151
Likely benign	13
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

3572 predictions. Top by Δscore:

Variant	Effect	Δscore
15:89576240:GGT:G	donor_loss	1.0000
15:89582679:A:AG	acceptor_gain	1.0000
15:89582680:T:G	acceptor_gain	1.0000
15:89582681:TTTA:T	acceptor_loss	1.0000
15:89582681:TTTAG:T	acceptor_gain	1.0000
15:89582682:TTAGT:T	acceptor_gain	1.0000
15:89582683:TAGT:T	acceptor_gain	1.0000
15:89582684:A:AG	acceptor_gain	1.0000
15:89582684:A:AT	acceptor_gain	1.0000
15:89582684:AGTT:A	acceptor_gain	1.0000
15:89582685:G:GC	acceptor_gain	1.0000
15:89582685:GT:G	acceptor_gain	1.0000
15:89582685:GTT:G	acceptor_gain	1.0000
15:89582685:GTTG:G	acceptor_gain	1.0000
15:89582685:GTTGT:G	acceptor_gain	1.0000
15:89582962:GAAG:G	donor_gain	1.0000
15:89582966:G:GG	donor_gain	1.0000
15:89582966:GTAA:G	donor_loss	1.0000
15:89584285:GCA:G	acceptor_gain	1.0000
15:89585939:GCTG:G	donor_gain	1.0000
15:89585940:CTGGT:C	donor_loss	1.0000
15:89585942:GGTA:G	donor_loss	1.0000
15:89585943:G:A	donor_loss	1.0000
15:89585944:T:G	donor_loss	1.0000
15:89594550:GAAAC:G	donor_gain	1.0000
15:89594551:AAAC:A	donor_gain	1.0000
15:89594552:AAC:A	donor_gain	1.0000
15:89594553:AC:A	donor_gain	1.0000
15:89594553:ACG:A	donor_loss	1.0000
15:89594554:CG:C	donor_loss	1.0000

AlphaMissense

12402 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:89575923:T:A	W113R	0.997
15:89575923:T:C	W113R	0.997
15:89608822:A:C	R914S	0.997
15:89608822:A:T	R914S	0.997
15:89595453:T:C	M581T	0.996
15:89608821:G:C	R914T	0.996
15:89575925:G:C	W113C	0.995
15:89575925:G:T	W113C	0.995
15:89625363:T:A	W1685R	0.995
15:89625363:T:C	W1685R	0.995
15:89608829:T:C	F917L	0.994
15:89608831:C:A	F917L	0.994
15:89608831:C:G	F917L	0.994
15:89608821:G:T	R914I	0.993
15:89619725:A:C	S1013R	0.992
15:89619727:T:A	S1013R	0.992
15:89619727:T:G	S1013R	0.992
15:89625365:G:C	W1685C	0.991
15:89625365:G:T	W1685C	0.991
15:89608827:T:C	L916P	0.990
15:89616454:G:C	K973N	0.990
15:89616454:G:T	K973N	0.990
15:89595453:T:G	M581R	0.988
15:89595454:G:A	M581I	0.988
15:89595454:G:C	M581I	0.988
15:89595454:G:T	M581I	0.988
15:89595460:T:A	N583K	0.988
15:89595460:T:G	N583K	0.988
15:89595471:T:C	L587P	0.988
15:89602821:A:C	S865R	0.988

dbSNP variants (sampled 300 via entrez): RS1000013240 (15:89612582 A>T), RS1000049987 (15:89593517 A>T), RS1000102714 (15:89611140 T>G), RS1000166311 (15:89589101 G>C), RS1000248273 (15:89598218 C>T), RS1000292351 (15:89577728 C>T), RS1000423201 (15:89600052 G>T), RS1000506156 (15:89628257 C>G), RS1000615989 (15:89602257 C>T), RS1000631354 (15:89610721 T>C), RS1000635325 (15:89615553 T>G), RS1000689738 (15:89602720 T>A,G), RS1000707713 (15:89601161 A>C,G), RS1000763396 (15:89600872 G>A,T), RS1000810977 (15:89618521 T>G)

Disease associations

OMIM: gene MIM:613298 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001762_880	Obesity-related traits	9.000000e-06
GCST002447_2	Resting oxygen saturation in chronic osbtructive pulmonary disease (pulse oxymetry)	5.000000e-09
GCST008114_1	Type 2 diabetes	4.000000e-06
GCST90002390_428	Mean corpuscular hemoglobin	6.000000e-12

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004627	IGF-1 measurement
EFO:0005682	oxygen saturation measurement
EFO:0004527	mean corpuscular hemoglobin

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	4
Benzo(a)pyrene	increases expression, increases methylation	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	increases sumoylation	1
dicrotophos	increases expression	1
alpha-pinene	increases oxidation, increases abundance, affects cotreatment	1
propionaldehyde	decreases expression	1
bisphenol A	decreases expression	1
2,2’-methylenebis(4-methyl-6-tert-butylphenol)	affects expression, affects response to substance	1
2-butenal	decreases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	decreases expression	1
perfluorooctanoic acid	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
coumarin	affects phosphorylation	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
tebuconazole	increases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
ICG 001	decreases expression	1
incobotulinumtoxinA	decreases expression	1
NSC 689534	affects binding, decreases expression	1
Dasatinib	decreases expression	1
Temozolomide	increases expression	1
Sunitinib	decreases expression	1
Leflunomide	decreases expression	1
Acetaminophen	increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants	increases abundance, increases oxidation, affects cotreatment	1

Clinical trials (associated diseases)

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