MMS22L

Summary

MMS22L (MMS22 like, DNA repair protein, HGNC:21475) is a protein-coding gene on chromosome 6q16.1, encoding Protein MMS22-like (Q6ZRQ5). Component of the MMS22L-TONSL complex, a complex that promotes homologous recombination-mediated repair of double-strand breaks (DSBs) at stalled or collapsed replication forks. It is a common-essential gene (DepMap: required in 99.3% of cancer cell lines).

The protein encoded by this gene forms a complex with tonsoku-like, DNA repair protein (TONSL), and this complex recognizes and repairs DNA double-strand breaks at sites of stalled or collapsed replication forks. The encoded protein also can bind with the histone-associated protein NFKBIL2 to help regulate the chromatin state at stalled replication forks. Finally, this gene appears to be overexpressed in most lung and esophageal cancers. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 253714 — RefSeq curated summary.

At a glance

• GWAS associations: 35
• Clinical variants (ClinVar): 162 total
• Cancer dependency (DepMap): dependent in 99.3% of screened cell lines (common-essential)
• MANE Select transcript: NM_001350599

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21475
Approved symbol	MMS22L
Name	MMS22 like, DNA repair protein
Location	6q16.1
Locus type	gene with protein product
Status	Approved
Aliases	dJ39B17.2
Ensembl gene	ENSG00000146263
Ensembl biotype	protein_coding
OMIM	615614
Entrez	253714

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 8 protein_coding, 4 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000275053, ENST00000369251, ENST00000482634, ENST00000484170, ENST00000496119, ENST00000506256, ENST00000508820, ENST00000508976, ENST00000509383, ENST00000510018, ENST00000511335, ENST00000514790, ENST00000683635, ENST00000929351, ENST00000929352, ENST00000929353

RefSeq mRNA: 3 — MANE Select: NM_001350599 NM_001350599, NM_001350600, NM_198468

CCDS: CCDS5039

Canonical transcript exons

ENST00000683635 — 25 exons

Exon	Start	End
ENSE00000974785	97149853	97150020
ENSE00000974786	97142161	97146887
ENSE00001084130	97173063	97173222
ENSE00001084131	97162002	97162165
ENSE00001084132	97168071	97168240
ENSE00001084133	97165246	97165457
ENSE00001325412	97151771	97151867
ENSE00001367907	97179408	97179559
ENSE00001370802	97228894	97229403
ENSE00001371519	97186497	97186690
ENSE00001371771	97181904	97182054
ENSE00001380242	97178443	97178585
ENSE00001385237	97231426	97231652
ENSE00003504632	97278849	97278898
ENSE00003506261	97272975	97273062
ENSE00003516513	97246628	97246690
ENSE00003554438	97272704	97272881
ENSE00003579047	97281237	97281362
ENSE00003624103	97282314	97282553
ENSE00003633202	97254557	97254733
ENSE00003642259	97267872	97268002
ENSE00003642304	97263335	97263448
ENSE00003692017	97269902	97269992
ENSE00003791095	97233861	97233980
ENSE00003922136	97283096	97283216

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 89.41.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.3657 / max 182.1816, expressed in 1627 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
74780	10.3657	1627

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.41	gold quality
ventricular zone	UBERON:0003053	87.30	gold quality
embryo	UBERON:0000922	84.92	gold quality
ganglionic eminence	UBERON:0004023	84.92	gold quality
bone marrow	UBERON:0002371	83.56	gold quality
bone marrow cell	CL:0002092	83.44	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.33	gold quality
corpus callosum	UBERON:0002336	79.31	gold quality
stromal cell of endometrium	CL:0002255	77.90	gold quality
adrenal tissue	UBERON:0018303	77.86	gold quality
tonsil	UBERON:0002372	76.93	gold quality
calcaneal tendon	UBERON:0003701	76.77	gold quality
islet of Langerhans	UBERON:0000006	76.04	gold quality
testis	UBERON:0000473	75.90	gold quality
endometrium	UBERON:0001295	75.60	gold quality
vermiform appendix	UBERON:0001154	75.28	gold quality
smooth muscle tissue	UBERON:0001135	75.21	gold quality
lymph node	UBERON:0000029	74.83	gold quality
monocyte	CL:0000576	74.55	gold quality
rectum	UBERON:0001052	74.39	gold quality
leukocyte	CL:0000738	74.31	gold quality
right testis	UBERON:0004534	73.96	gold quality
placenta	UBERON:0001987	73.80	gold quality
left testis	UBERON:0004533	73.56	gold quality
colonic epithelium	UBERON:0000397	73.48	gold quality
cortical plate	UBERON:0005343	73.29	gold quality
lower esophagus mucosa	UBERON:0035834	70.90	gold quality
esophagus mucosa	UBERON:0002469	70.66	gold quality
pancreas	UBERON:0001264	69.91	gold quality
duodenum	UBERON:0002114	69.91	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-6075	yes	883.09
E-MTAB-6678	yes	7.89
E-ANND-3	yes	7.00
E-GEOD-70580	no	168.82

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

170 targeting MMS22L, 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-8485	100.00	77.57	4731
HSA-MIR-98-3P	100.00	74.08	3907
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3662	99.99	73.82	5684
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-12136	99.98	72.81	5713

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.3% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 9)

• These results indicate that MMS22L and TONSL are genome caretakers that stimulate the recombination-dependent repair of stalled or collapsed replication forks. (PMID:21055983)
• MMS22L and TONSL are required for the maintenance of genome stability. (PMID:21055984)
• This study identifies MMS22L-NFKBIL2 as components of the replication stress control pathway. (PMID:21055985)
• Results strongly suggest that the Mms22L-Nfkbil2 complex contributes to genome stability by regulating the chromatin state at stalled replication forks. (PMID:21113133)
• Our data strongly suggest that targeting MMS22L as well as its interaction with NFKBIL2 could be a promising strategy for novel cancer treatments. (PMID:22895565)
• new histones incorporated during DNA replication provide a signature of post-replicative chromatin, read by the human TONSL-MMS22L homologous recombination complex (PMID:27338793)
• By specifically regulating RAD51 activity at uncoupled replication forks, MMS22L-TONSL stabilizes perturbed replication forks by promoting replication fork reversal and stimulating their homologous recombination-mediated restart in vivo. (PMID:27797818)
• uncovered DNA-PKcs-dependent DNA damage-induced ASF1A phosphorylation, which enhances chromatin assembly, promoting MMS22L-TONSL recruitment and, hence, Rad51 loading. (PMID:29478807)
• MMS22L-TONSL functions in sister chromatid cohesion in a pathway parallel to DSCC1-RFC. (PMID:36622344)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	mms22l	ENSDARG00000074691
mus_musculus	Mms22l	ENSMUSG00000045751
rattus_norvegicus	Mms22l	ENSRNOG00000006996
drosophila_melanogaster	CG14803	FBGN0023513

Protein

Protein identifiers

Protein MMS22-like — Q6ZRQ5 (reviewed: Q6ZRQ5)

Alternative names: Methyl methanesulfonate-sensitivity protein 22-like

All UniProt accessions (5): Q6ZRQ5, E2QRD4, H0Y8J1, H0YAJ2, H9KVD8

UniProt curated annotations — full annotation on UniProt →

Function. Component of the MMS22L-TONSL complex, a complex that promotes homologous recombination-mediated repair of double-strand breaks (DSBs) at stalled or collapsed replication forks. The MMS22L-TONSL complex is required to maintain genome integrity during DNA replication. It mediates the assembly of RAD51 filaments on single-stranded DNA (ssDNA): the MMS22L-TONSL complex is recruited to DSBs following histone replacement by histone chaperones and eviction of the replication protein A complex (RPA/RP-A) from DSBs. Following recruitment to DSBs, the TONSL-MMS22L complex promotes recruitment of RAD51 filaments and subsequent homologous recombination. Within the complex, MMS22L acts by binding ssDNA.

Subunit / interactions. Component of the MMS22L-TONSL complex, a complex at least composed of MMS22L and TONSL/NFKBIL2. Interacts with RAD51; interaction is direct.

Subcellular location. Nucleus. Chromosome.

Post-translational modifications. Degraded by the ubiquitin-proteasome system upon replication stress.

Similarity. Belongs to the MMS22 family. MMS22L subfamily.

RefSeq proteins (3): NP_001337528, NP_001337529, NP_940870 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029424	MMS22L_C	Domain
IPR029425	MMS22L_N	Domain
IPR042320	MMS22-like	Family

Pfam: PF14910, PF14911

UniProt features (10 total): sequence variant 4, mutagenesis site 4, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZRQ5-F1	81.77	0.32

Functional residue map

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

Mutagenesis-validated functional residues (4):

Position	Phenotype
29–32	does not affect interaction with rad51.
595–598	does not affect interaction with rad51.
1034–1037	abolished interaction with rad51.
1034	abolished interaction with rad51.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 153 (showing top): GOBP_DNA_TEMPLATED_DNA_REPLICATION_MAINTENANCE_OF_FIDELITY, GOCC_NUCLEAR_REPLICATION_FORK, GOBP_PROTEIN_LOCALIZATION_TO_CHROMATIN, GOBP_PROTEIN_LOCALIZATION_TO_CHROMOSOME, GOBP_DNA_DAMAGE_RESPONSE, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, FISCHER_DREAM_TARGETS, GOBP_RECOMBINATIONAL_REPAIR, IK3_01, GOBP_DNA_REPLICATION, GOMF_SINGLE_STRANDED_DNA_BINDING, NUYTTEN_EZH2_TARGETS_DN, GOCC_MCM_COMPLEX, GAVIN_FOXP3_TARGETS_CLUSTER_P6, GOCC_TRANSCRIPTION_ELONGATION_FACTOR_COMPLEX

GO Biological Process (6): double-strand break repair via homologous recombination (GO:0000724), chromatin organization (GO:0006325), replication fork processing (GO:0031297), protein localization to chromatin (GO:0071168), DNA repair (GO:0006281), DNA damage response (GO:0006974)

GO Molecular Function (3): single-stranded DNA binding (GO:0003697), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (9): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), site of double-strand break (GO:0035861), nuclear replication fork (GO:0043596), site of DNA damage (GO:0090734), chromosome (GO:0005694), FACT complex (GO:0035101), MCM complex (GO:0042555)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
recombinational repair	1
double-strand break repair	1
cellular component organization	1
DNA-templated DNA replication maintenance of fidelity	1
protein localization to chromosome	1
DNA metabolic process	1
DNA damage response	1
cellular response to stress	1
DNA binding	1
nucleic acid binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
site of DNA damage	1
nuclear chromosome	1
nucleus	1
replication fork	1
CMG complex	1
chromosome	1
intracellular membraneless organelle	1
chromatin	1
transcription elongation factor complex	1
protein-containing complex	1
MCM core complex	1

Protein interactions and networks

STRING

1090 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MMS22L	TONSL	Q96HA7	997
MMS22L	ESCO2	Q56NI9	658
MMS22L	MCM5	P33992	623
MMS22L	KLHL32	Q96NJ5	593
MMS22L	SMARCAL1	Q9NZC9	548
MMS22L	MCM3	P25205	523
MMS22L	DDB1	Q16531	515
MMS22L	SFT2D2	O95562	507
MMS22L	RADX	Q6NSI4	495
MMS22L	RAD51	Q06609	488
MMS22L	ASF1B	Q9NVP2	476
MMS22L	MFAP3L	O75121	472
MMS22L	GPR63	Q9BZJ6	462
MMS22L	MCM6	Q14566	462
MMS22L	ZRANB3	Q5FWF4	455

IntAct

61 interactions, top by confidence:

A	B	Type	Score
MCM2	MCM4	psi-mi:“MI:0914”(association)	0.830
H2AX	PPM1G	psi-mi:“MI:0914”(association)	0.730
H2AC4	PPM1G	psi-mi:“MI:0914”(association)	0.670
H2BC1	PPM1G	psi-mi:“MI:0914”(association)	0.640
ASF1B	HAT1	psi-mi:“MI:0914”(association)	0.640
NPY2R	RTL8C	psi-mi:“MI:0914”(association)	0.530
NCR3LG1	FAM171A2	psi-mi:“MI:0914”(association)	0.530
MACROH2A2	PPM1G	psi-mi:“MI:0914”(association)	0.530
SSRP1	PARP1	psi-mi:“MI:0914”(association)	0.530
H2BC26	PPM1G	psi-mi:“MI:0914”(association)	0.530
H2AC18	PPM1G	psi-mi:“MI:0914”(association)	0.530
ANKRD22	ESYT2	psi-mi:“MI:0914”(association)	0.530
TONSL	H2AC4	psi-mi:“MI:0914”(association)	0.530
TONSL	MMS22L	psi-mi:“MI:0915”(physical association)	0.500
TONSL	MMS22L	psi-mi:“MI:0914”(association)	0.500
RRP1B	ZNF785	psi-mi:“MI:0914”(association)	0.350
PACC1	DEGS1	psi-mi:“MI:0914”(association)	0.350
PVR	QSOX1	psi-mi:“MI:0914”(association)	0.350
OPRM1	EXOC5	psi-mi:“MI:0914”(association)	0.350
H4C16		psi-mi:“MI:0914”(association)	0.350

BioGRID (123): MMS22L (Affinity Capture-MS), MMS22L (Synthetic Growth Defect), MMS22L (Co-purification), MMS22L (Affinity Capture-MS), MMS22L (Affinity Capture-MS), MMS22L (Affinity Capture-MS), MMS22L (Affinity Capture-MS), MMS22L (Affinity Capture-MS), MMS22L (Affinity Capture-MS), MMS22L (Affinity Capture-MS), MMS22L (Affinity Capture-MS), MMS22L (Affinity Capture-MS), MMS22L (Affinity Capture-MS), MMS22L (Affinity Capture-MS), MMS22L (Affinity Capture-MS)

ESM2 similar proteins: A0JM49, A2AKG8, B0V0U5, B1AUR6, C5J7W8, E1BGH8, E1C231, E1C2Z0, E7FGT5, E7FH61, E9Q3L2, F6S215, O08662, O60287, O94822, P42356, P57678, P78527, P97313, Q13315, Q13535, Q14146, Q1RLU1, Q2TAW0, Q3TQQ9, Q3URQ0, Q571H0, Q5RDK1, Q5VW36, Q5WNI9, Q5XI94, Q5ZM41, Q62388, Q6A009, Q6DFV1, Q6PQD5, Q6ZRQ5, Q7SY48, Q86XI2, Q8BKX6

Diamond homologs: B1AUR6, B3DIY3, E1BGH8, E1C2Z0, Q6ZRQ5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 64 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
RNA Polymerase I Promoter Opening	10	43.9×	8e-13
DNA methylation	10	42.5×	9e-13
Packaging Of Telomere Ends	8	41.8×	8e-11
Defective pyroptosis	11	41.0×	1e-13
SIRT1 negatively regulates rRNA expression	10	40.6×	1e-12
Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3	10	40.0×	1e-12
Inhibition of DNA recombination at telomere	10	40.0×	1e-12
ChAHP complex assembly	9	39.5×	1e-11

GO biological processes:

GO term	Partners	Fold	FDR
nucleosome assembly	14	33.9×	1e-15
heterochromatin formation	7	30.8×	6e-07
DNA repair	7	7.7×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	147
Likely benign	13
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

5183 predictions. Top by Δscore:

Variant	Effect	Δscore
6:97146816:T:C	donor_gain	1.0000
6:97146840:T:C	donor_gain	1.0000
6:97150017:CTGC:C	acceptor_gain	1.0000
6:97151868:C:CC	acceptor_gain	1.0000
6:97169387:T:C	donor_gain	1.0000
6:97173140:T:TA	donor_gain	1.0000
6:97173219:CAGC:C	acceptor_gain	1.0000
6:97173222:CCT:C	acceptor_loss	1.0000
6:97173223:C:CC	acceptor_gain	1.0000
6:97173224:T:A	acceptor_loss	1.0000
6:97178586:C:CC	acceptor_gain	1.0000
6:97179402:A:AC	donor_gain	1.0000
6:97179403:C:CC	donor_gain	1.0000
6:97179407:CCAA:C	donor_gain	1.0000
6:97179514:T:C	acceptor_gain	1.0000
6:97179560:C:CC	acceptor_gain	1.0000
6:97186686:TACTC:T	acceptor_gain	1.0000
6:97186688:CTC:C	acceptor_gain	1.0000
6:97186689:TCCTA:T	acceptor_loss	1.0000
6:97186691:C:CC	acceptor_gain	1.0000
6:97186692:T:C	acceptor_loss	1.0000
6:97187395:C:CT	acceptor_gain	1.0000
6:97187396:A:T	acceptor_gain	1.0000
6:97229400:TATT:T	acceptor_gain	1.0000
6:97229402:TT:T	acceptor_gain	1.0000
6:97229404:C:CC	acceptor_gain	1.0000
6:97231428:T:A	donor_gain	1.0000
6:97246623:CATA:C	donor_loss	1.0000
6:97246624:ATAC:A	donor_loss	1.0000
6:97246626:ACCTG:A	donor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000003949 (6:97226465 G>A), RS1000004668 (6:97195101 T>G), RS1000005920 (6:97192788 T>A,C,G), RS1000054910 (6:97148872 G>A,T), RS1000104896 (6:97276357 A>G), RS1000106732 (6:97148555 T>C), RS1000110006 (6:97190850 G>A), RS1000112245 (6:97283080 G>A,C), RS1000135885 (6:97177455 T>C), RS1000146516 (6:97198501 T>C,G), RS1000153795 (6:97228145 T>A,G), RS1000189001 (6:97270971 A>C,T), RS1000213893 (6:97168462 C>T), RS1000221591 (6:97186261 G>A), RS1000226137 (6:97226771 G>A,C,T)

Disease associations

OMIM: gene MIM:615614 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

35 associations (top):

Study	Trait	p-value
GCST001834_1	Oleic acid (18:1n-9) levels	3.000000e-07
GCST002072_1	Multiple sclerosis (OCB status)	9.000000e-07
GCST002783_309	Body mass index	5.000000e-06
GCST002783_614	Body mass index	7.000000e-06
GCST003263_54	Post bronchodilator FEV1 in COPD	4.000000e-06
GCST003263_58	Post bronchodilator FEV1 in COPD	2.000000e-06
GCST003263_59	Post bronchodilator FEV1 in COPD	4.000000e-06
GCST003263_60	Post bronchodilator FEV1 in COPD	4.000000e-06
GCST003263_61	Post bronchodilator FEV1 in COPD	4.000000e-06
GCST003263_62	Post bronchodilator FEV1 in COPD	4.000000e-06
GCST003265_261	Post bronchodilator FEV1/FVC ratio in COPD	1.000000e-06
GCST003265_262	Post bronchodilator FEV1/FVC ratio in COPD	2.000000e-06
GCST003265_263	Post bronchodilator FEV1/FVC ratio in COPD	2.000000e-06
GCST003265_265	Post bronchodilator FEV1/FVC ratio in COPD	2.000000e-06
GCST003265_266	Post bronchodilator FEV1/FVC ratio in COPD	2.000000e-06
GCST003265_267	Post bronchodilator FEV1/FVC ratio in COPD	2.000000e-06
GCST003265_268	Post bronchodilator FEV1/FVC ratio in COPD	2.000000e-06
GCST003855_10	Gut microbiota (bacterial taxa)	2.000000e-08
GCST003855_11	Gut microbiota (bacterial taxa)	2.000000e-08
GCST003855_12	Gut microbiota (bacterial taxa)	2.000000e-08
GCST003855_13	Gut microbiota (bacterial taxa)	4.000000e-08
GCST003855_14	Gut microbiota (bacterial taxa)	4.000000e-08
GCST003992_39	Photic sneeze reflex	1.000000e-17
GCST004557_188	Body mass index	9.000000e-06
GCST004557_57	Body mass index	3.000000e-08
GCST004558_241	Body mass index (joint analysis main effects and physical activity interaction)	8.000000e-08
GCST004559_169	Body mass index in physically active individuals	2.000000e-07
GCST005830_56	Hand grip strength	1.000000e-08
GCST007326_77	Number of sexual partners	4.000000e-08
GCST007329_28	Automobile speeding propensity	3.000000e-08

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004314	forced expiratory volume
EFO:0004713	FEV/FVC ratio
EFO:0007874	gut microbiome measurement
EFO:0007887	autosomal dominant compelling helio-ophthalmic outburst syndrome
EFO:0008002	physical activity measurement
EFO:0006941	grip strength measurement
EFO:0008579	risk-taking behaviour
EFO:0008328	chronotype measurement
EFO:0009863	anxiety measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases expression, affects methylation	4
bisphenol A	decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
Aflatoxin B1	increases expression, increases methylation	2
aristolochic acid I	decreases expression	1
afuresertib	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	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	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
aflatoxin B2	decreases methylation	1
di-n-butylphosphoric acid	affects expression	1
abrine	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Dasatinib	decreases expression	1
Sunitinib	decreases expression	1
Calcitriol	decreases expression, affects cotreatment	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Melphalan	decreases expression	1
Testosterone	affects cotreatment, decreases expression	1
Tretinoin	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1
Aflatoxin M1	decreases expression	1

Clinical trials (associated diseases)

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