MPP7

Summary

MPP7 (MAGUK p55 scaffold protein 7, HGNC:26542) is a protein-coding gene on chromosome 10p12.1, encoding MAGUK p55 subfamily member 7 (Q5T2T1). Acts as an important adapter that promotes epithelial cell polarity and tight junction formation via its interaction with DLG1.

The protein encoded by this gene is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLG1 (discs, large homolog 1) and facilitates epithelial cell polarity and tight junction formation. Polymorphisms in this gene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 143098 — RefSeq curated summary.

At a glance

• GWAS associations: 20
• Clinical variants (ClinVar): 82 total
• MANE Select transcript: NM_001318170

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26542
Approved symbol	MPP7
Name	MAGUK p55 scaffold protein 7
Location	10p12.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32798
Ensembl gene	ENSG00000150054
Ensembl biotype	protein_coding
OMIM	610973
Entrez	143098

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 22 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000337532, ENST00000375719, ENST00000375732, ENST00000441595, ENST00000474682, ENST00000474731, ENST00000481244, ENST00000496637, ENST00000683449, ENST00000893162, ENST00000893163, ENST00000893164, ENST00000893165, ENST00000893166, ENST00000893167, ENST00000893168, ENST00000893169, ENST00000893170, ENST00000893171, ENST00000893172, ENST00000893173, ENST00000893174, ENST00000935550, ENST00000957212, ENST00000957213, ENST00000957214

RefSeq mRNA: 2 — MANE Select: NM_001318170 NM_001318170, NM_173496

CCDS: CCDS7158

Canonical transcript exons

ENST00000683449 — 17 exons

Exon	Start	End
ENSE00001283281	28059650	28059743
ENSE00001468207	28050993	28054244
ENSE00003470343	28147483	28147563
ENSE00003479307	28056480	28056623
ENSE00003480052	28119651	28119715
ENSE00003488524	28120594	28120668
ENSE00003494625	28120194	28120390
ENSE00003536834	28131560	28131691
ENSE00003536901	28089671	28089841
ENSE00003578075	28069772	28069852
ENSE00003581254	28238568	28238735
ENSE00003586244	28202153	28202271
ENSE00003597997	28124031	28124116
ENSE00003602996	28058495	28058603
ENSE00003633582	28125010	28125091
ENSE00003663142	28149982	28150059
ENSE00003916308	28302861	28303064

Expression profiles

Bgee: expression breadth ubiquitous, 240 present calls, max score 96.18.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.0219 / max 520.6183, expressed in 1008 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
108814	4.5131	808
108815	1.6505	679
108813	0.8925	442
108818	0.4401	71
108817	0.3355	55
108819	0.0974	34
108816	0.0601	26
108812	0.0198	8
108801	0.0101	2
108809	0.0027	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
palpebral conjunctiva	UBERON:0001812	96.18	gold quality
gingival epithelium	UBERON:0001949	96.11	gold quality
gingiva	UBERON:0001828	95.53	gold quality
esophagus squamous epithelium	UBERON:0006920	95.41	gold quality
oral cavity	UBERON:0000167	93.15	gold quality
upper leg skin	UBERON:0004262	92.64	gold quality
skin of hip	UBERON:0001554	92.19	gold quality
upper arm skin	UBERON:0004263	91.26	gold quality
oocyte	CL:0000023	90.32	gold quality
epithelium of nasopharynx	UBERON:0001951	89.95	gold quality
epithelial cell of pancreas	CL:0000083	89.42	gold quality
mucosa of paranasal sinus	UBERON:0005030	88.29	gold quality
popliteal artery	UBERON:0002250	88.17	gold quality
tibial artery	UBERON:0007610	88.16	gold quality
esophagus mucosa	UBERON:0002469	88.10	gold quality
monocyte	CL:0000576	87.81	gold quality
penis	UBERON:0000989	87.63	gold quality
nasal cavity mucosa	UBERON:0001826	87.37	gold quality
leukocyte	CL:0000738	87.31	gold quality
right coronary artery	UBERON:0001625	86.91	gold quality
bronchial epithelial cell	CL:0002328	86.52	gold quality
esophagus	UBERON:0001043	86.32	gold quality
aorta	UBERON:0000947	86.21	gold quality
zone of skin	UBERON:0000014	86.03	gold quality
saphenous vein	UBERON:0007318	85.93	gold quality
secondary oocyte	CL:0000655	85.60	gold quality
skin of leg	UBERON:0001511	85.49	gold quality
bronchus	UBERON:0002185	85.41	gold quality
lower esophagus mucosa	UBERON:0035834	84.90	gold quality
skin of abdomen	UBERON:0001416	84.52	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-130148	yes	4.39
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

153 targeting MPP7, 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-4262	100.00	73.26	3931
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882

Literature-anchored findings (GeneRIF, showing 8)

• MPP7 is a PDZ protein that interacts with human papillomavirus-16 E6 and forms a tripartite complex with LIN7A or LIN7C and DLG1, regulating the stability and localization of DLG1 to cell junctions. (PMID:17237226)
• MPP7 targets to the lateral surface of epithelial cells via its L27N domain, through an interaction with Dlg1. (PMID:17332497)
• The Dlg1-MPP7-Mals3 heterotrimer consists of 2 pairs of heterodimeric L27 domains. These 2 dimers are asymmetric due to the large difference between the N- and C-terminal tandem L27 domain of MPP7. (PMID:20702775)
• The association of MPP7 single-nucleotide polymorphism rs4317882 gene variant with site-specific bone mineral density was determined. (PMID:22171069)
• MPP7 as a novel candidate gene for Primary open angle glaucoma. (PMID:27001270)
• Relationship of common variants in MPP7, TIMP2 and CASP8 genes with the risk of chronic achilles tendinopathy. (PMID:31772230)
• MPP7 promotes the migration and invasion of breast cancer cells via EGFR/AKT signaling. (PMID:33377561)
• A common variant SNP rs1937810 in the MPP7 gene contributes to the susceptibility of breast cancer in the Chinese Han population. (PMID:37194388)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	mpp7a	ENSDARG00000102470
mus_musculus	Mpp7	ENSMUSG00000057440
rattus_norvegicus	Mpp7	ENSRNOG00000018760
drosophila_melanogaster	metro	FBGN0050021
drosophila_melanogaster	vari	FBGN0250785
caenorhabditis_elegans	magu-3	WBGENE00016841
caenorhabditis_elegans		WBGENE00021914

Paralogs (7): PALS1 (ENSG00000072415), MPP4 (ENSG00000082126), PALS2 (ENSG00000105926), MPP2 (ENSG00000108852), MPP1 (ENSG00000130830), CASK (ENSG00000147044), MPP3 (ENSG00000161647)

Protein

Protein identifiers

MAGUK p55 subfamily member 7 — Q5T2T1 (reviewed: Q5T2T1)

All UniProt accessions (3): Q5T2T1, S4R337, U5GXS2

UniProt curated annotations — full annotation on UniProt →

Function. Acts as an important adapter that promotes epithelial cell polarity and tight junction formation via its interaction with DLG1. Involved in the assembly of protein complexes at sites of cell-cell contact.

Subunit / interactions. Heterodimer; able to heterodimerize via its C-terminal L27 domain with LIN7A, LIN7B and LIN7C. Forms a tripartite complex composed of DLG1, MPP7 and LIN7 (LIN7A or LIN7C). Interacts with DLG1 via its N-terminal L27 domain. Interacts with PALS1 and PATJ.

Subcellular location. Membrane. Lateral cell membrane. Cell junction. Tight junction. Adherens junction. Cytoplasm. Cell cortex.

Post-translational modifications. Phosphorylated by aPKC which promotes dissociation from the cell cortex.

Domain organisation. The phospho-regulated basic and hydrophobic (PRBH) motif is sufficient and important for interaction with phospholipids permitting cortical localization. Phosphorylation of the PRBH motif by aPKC inhibits the association of the protein with the cortical membrane.

Induction. Down-regulated in patients suffering of passive Heymann nephritis (at protein level).

Similarity. Belongs to the MAGUK family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5T2T1-1	1	yes
Q5T2T1-2	2

RefSeq proteins (2): NP_001305099, NP_775767 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001452	SH3_domain	Domain
IPR001478	PDZ	Domain
IPR004172	L27_dom	Domain
IPR008144	Guanylate_kin-like_dom	Domain
IPR008145	GK/Ca_channel_bsu	Domain
IPR014775	L27_C	Domain
IPR020590	Guanylate_kinase_CS	Conserved_site
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR035599	MPP7_SH3	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR036034	PDZ_sf	Homologous_superfamily
IPR036892	L27_dom_sf	Homologous_superfamily
IPR050716	MAGUK	Family

Pfam: PF00018, PF00595, PF00625, PF02828

UniProt features (33 total): helix 10, strand 7, domain 5, splice variant 3, mutagenesis site 2, turn 2, chain 1, sequence variant 1, region of interest 1, modified residue 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
3O46	X-RAY DIFFRACTION	1.3
3LRA	X-RAY DIFFRACTION	2.95

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T2T1-F1	80.49	0.39

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 (1): 409

Mutagenesis-validated functional residues (2):

Position	Phenotype
38	abolishes interaction with dlg1.
95	does not affect the interaction with dlg1.

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

ID	Pathway
R-HSA-9013149	RAC1 GTPase cycle
R-HSA-9013404	RAC2 GTPase cycle
R-HSA-9013406	RHOQ GTPase cycle
R-HSA-9013408	RHOG GTPase cycle
R-HSA-9013409	RHOJ GTPase cycle
R-HSA-9013423	RAC3 GTPase cycle
R-HSA-162582	Signal Transduction
R-HSA-194315	Signaling by Rho GTPases
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 181 (showing top): GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, WHITEHURST_PACLITAXEL_SENSITIVITY, GOBP_APICAL_JUNCTION_ASSEMBLY, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_ESTABLISHMENT_OF_CELL_POLARITY, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_CELL_JUNCTION_ORGANIZATION, FOSTER_TOLERANT_MACROPHAGE_UP, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_CELL_JUNCTION_ASSEMBLY, DELASERNA_MYOD_TARGETS_DN

GO Biological Process (4): establishment of cell polarity (GO:0030010), positive regulation of protein-containing complex assembly (GO:0031334), bicellular tight junction assembly (GO:0070830), protein localization to adherens junction (GO:0071896)

GO Molecular Function (5): protein domain specific binding (GO:0019904), signaling adaptor activity (GO:0035591), cadherin binding (GO:0045296), molecular adaptor activity (GO:0060090), protein binding (GO:0005515)

GO Cellular Component (12): nucleoplasm (GO:0005654), plasma membrane (GO:0005886), cell-cell junction (GO:0005911), adherens junction (GO:0005912), bicellular tight junction (GO:0005923), cell cortex (GO:0005938), lateral plasma membrane (GO:0016328), cell junction (GO:0030054), MPP7-DLG1-LIN7 complex (GO:0097025), cytoplasm (GO:0005737), membrane (GO:0016020), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
RHO GTPase cycle	6
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
binding	2
cell periphery	2
establishment or maintenance of cell polarity	1
regulation of protein-containing complex assembly	1
positive regulation of cellular component biogenesis	1
positive regulation of cellular component organization	1
protein-containing complex assembly	1
apical junction assembly	1
tight junction assembly	1
protein localization to cell-cell junction	1
protein binding	1
protein-macromolecule adaptor activity	1
cell adhesion molecule binding	1
molecular_function	1
nuclear lumen	1
membrane	1
anchoring junction	1
cell-cell junction	1
apical junction complex	1
tight junction	1
cytoplasm	1
plasma membrane	1
adherens junction	1
plasma membrane protein complex	1
intracellular anatomical structure	1
cell junction	1

Protein interactions and networks

STRING

1654 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MPP7	LIN7A	O14910	878
MPP7	PATJ	Q8NI35	580
MPP7	PALS1	Q8N3R9	461
MPP7	TBC1D32	Q96NH3	455
MPP7	LIMD2	Q9BT23	433
MPP7	CASK	O14936	424
MPP7	OCLN	Q16625	395
MPP7	PHF12	Q96QT6	391
MPP7	CDAN1	Q8IWY9	380
MPP7	SGSM1	Q2NKQ1	363
MPP7	MOB3B	Q86TA1	353
MPP7	GPATCH1	Q9BRR8	349
MPP7	GART	P22102	348
MPP7	SEZ6	Q53EL9	347
MPP7	ATE1	O95260	346

IntAct

508 interactions, top by confidence:

A	B	Type	Score
MPP7	LIN7C	psi-mi:“MI:0915”(physical association)	0.800
RNF146	TNKS	psi-mi:“MI:0914”(association)	0.790
MPP7	LIN7B	psi-mi:“MI:0915”(physical association)	0.740
LIN7A	MPP7	psi-mi:“MI:0915”(physical association)	0.670
KCNJ2	KCNJ18	psi-mi:“MI:2364”(proximity)	0.660
E6	TAX1BP3	psi-mi:“MI:0914”(association)	0.650
EFNB3	DENND11	psi-mi:“MI:0914”(association)	0.640
CYSLTR2	CASK	psi-mi:“MI:0914”(association)	0.590
DLGAP4	LIN7A	psi-mi:“MI:0914”(association)	0.590
SLC16A3	CASK	psi-mi:“MI:0914”(association)	0.590
DLGAP4	MPP7	psi-mi:“MI:0407”(direct interaction)	0.590
MPP7	KCNA4	psi-mi:“MI:0407”(direct interaction)	0.590
SLC16A3	MPP7	psi-mi:“MI:0407”(direct interaction)	0.590
CFTR	MPP7	psi-mi:“MI:0407”(direct interaction)	0.570
MPP7	DLGAP4	psi-mi:“MI:0915”(physical association)	0.560
MPP7	TRIM5	psi-mi:“MI:0915”(physical association)	0.560
MPP7	MYSM1	psi-mi:“MI:0915”(physical association)	0.560
HSBP1	MPP7	psi-mi:“MI:0915”(physical association)	0.560
NRAS	RGL2	psi-mi:“MI:0914”(association)	0.550
SLC25A41	NUDT19	psi-mi:“MI:0914”(association)	0.530
GPRC5B	STXBP3	psi-mi:“MI:0914”(association)	0.530
SLC31A1	C2orf72	psi-mi:“MI:0914”(association)	0.530
EFCAB11	SFI1	psi-mi:“MI:0914”(association)	0.530
LIN7C	ABLIM1	psi-mi:“MI:0914”(association)	0.530
LIN7B	CASK	psi-mi:“MI:0914”(association)	0.530

BioGRID (149): MPP7 (Affinity Capture-MS), MPP7 (Affinity Capture-MS), MPP7 (Affinity Capture-MS), MPP7 (Co-fractionation), MPP7 (Proximity Label-MS), MPP7 (Affinity Capture-MS), MPP7 (Affinity Capture-MS), MPP7 (Proximity Label-MS), MPP7 (Affinity Capture-MS), MPP7 (Affinity Capture-MS), MPP7 (Affinity Capture-MS), MPP7 (Affinity Capture-MS), MPP7 (Affinity Capture-MS), MPP7 (Affinity Capture-MS), MPP7 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2JTR4, A1A4S6, A2AWA9, A4FUD6, A4II46, A6H6A9, A6QNS3, A6QQZ7, O60890, P09851, P0CAX5, P20936, P23727, P26450, P27986, P50904, Q08DP6, Q12979, Q5R372, Q5R5M3, Q5R685, Q5R6F2, Q5R8I6, Q5RCC1, Q5RCW6, Q5SSL4, Q5T2T1, Q5U2Y3, Q5ZJ17, Q5ZLX4, Q5ZMW5, Q62696, Q63787, Q6Y5D8, Q6ZQ82, Q7YQL5, Q7YQL6, Q8AVG0, Q8BPU7, Q8K0F1

Diamond homologs: A6QQZ7, A8KBF6, A9CB74, B4F7E7, D3ZAA9, E2QY99, G5ECY0, O14936, O34328, O70589, O88910, O88954, P0C0M9, P15454, P31006, P31007, P44310, P46195, P49697, P54936, P65219, P65220, P65221, P70175, P70290, P72648, P93757, P99176, Q00013, Q13368, Q14168, Q15700, Q16774, Q17QN6, Q182S8, Q24210, Q2FHM9, Q2G1U0, Q2QPW1, Q2S8R2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 183 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
Ras activation upon Ca2+ influx through NMDA receptor	5	23.8×	2e-04
Dopamine Neurotransmitter Release Cycle	5	20.7×	3e-04
Neurexins and neuroligins	10	16.4×	3e-07
Assembly and cell surface presentation of NMDA receptors	6	12.7×	4e-04
Signaling by FGFR1 in disease	5	12.2×	1e-03
EPHB-mediated forward signaling	5	11.1×	2e-03
EPH-Ephrin signaling	5	6.9×	9e-03
Deubiquitination	6	6.2×	6e-03

GO biological processes:

GO term	Partners	Fold	FDR
Ras protein signal transduction	9	11.6×	1e-04
Wnt signaling pathway	10	6.2×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	64
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000032385 (10:28177170 C>A), RS1000036270 (10:28304669 T>A), RS1000049454 (10:28292849 T>C), RS1000066179 (10:28332267 G>T), RS1000070933 (10:28066208 A>T), RS1000090645 (10:28164593 A>G), RS1000095164 (10:28247672 C>G), RS1000110128 (10:28310911 CTTAA>C), RS1000111011 (10:28225994 AC>A), RS1000119864 (10:28098026 C>A), RS1000130006 (10:28140179 A>G), RS1000137642 (10:28090823 T>C), RS1000164817 (10:28208761 G>T), RS1000172183 (10:28271505 G>C), RS1000172572 (10:28146831 T>C)

Disease associations

OMIM: gene MIM:610973 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

20 associations (top):

Study	Trait	p-value
GCST000890_1	Hippocampal volume	2.000000e-06
GCST001285_10	Psychosis and Alzheimer’s disease	9.000000e-06
GCST001482_5	Lumbar spine bone mineral density	2.000000e-16
GCST001762_281	Obesity-related traits	7.000000e-06
GCST002276_16	Bone mineral density	8.000000e-06
GCST002493_19	Bone mineral density (paediatric, skull)	3.000000e-06
GCST003446_1	Glaucoma (primary open-angle)	6.000000e-07
GCST005796_15	Lumbar spine bone mineral density	1.000000e-09
GCST006288_473	Heel bone mineral density	7.000000e-07
GCST006288_489	Heel bone mineral density	2.000000e-09
GCST006288_629	Heel bone mineral density	5.000000e-16
GCST006479_23	Diverticular disease	9.000000e-06
GCST006585_2676	Blood protein levels	9.000000e-06
GCST006976_79	Macular thickness	2.000000e-09
GCST006979_569	Heel bone mineral density	1.000000e-31
GCST006979_570	Heel bone mineral density	2.000000e-20
GCST012490_9	Femur bone mineral density x serum urate levels interaction	9.000000e-14
GCST012501_2	Achilles tendon injury	1.000000e-10
GCST012501_3	Achilles tendon injury	3.000000e-09
GCST012501_4	Achilles tendon injury	2.000000e-08

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0005035	hippocampal volume
EFO:0005940	psychotic symptoms
EFO:0005119	antioxidant measurement
EFO:0007701	spine bone mineral density
EFO:0009270	heel bone mineral density
EFO:0009959	diverticular disease
EFO:0004531	urate measurement
EFO:0600078	Achilles tendon injury

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
Benzo(a)pyrene	decreases expression, increases methylation	5
Valproic Acid	increases expression	4
Aflatoxin B1	affects expression, decreases expression	3
methylmercuric chloride	decreases expression	2
sodium arsenite	decreases expression, increases abundance, increases expression	2
perfluorooctane sulfonic acid	decreases expression	2
Air Pollutants	decreases expression, increases abundance	2
Arsenic	decreases expression, increases abundance, affects methylation	2
Smoke	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
shuanghuang shengbai	increases expression	1
2,4,6-tribromophenol	decreases expression	1
bisphenol A	decreases expression	1
decabromobiphenyl ether	increases expression	1
arsenite	decreases expression	1
sulforaphane	decreases expression	1
perfluorooctanoic acid	decreases expression	1
potassium chromate(VI)	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
NSC 689534	affects binding, increases expression	1
(+)-JQ1 compound	increases expression	1
Irinotecan	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Vorinostat	increases expression	1
Leflunomide	increases expression	1
Calcitriol	increases expression	1

Clinical trials (associated diseases)

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