PPP1R7

Summary

PPP1R7 (protein phosphatase 1 regulatory subunit 7, HGNC:9295) is a protein-coding gene on chromosome 2q37.3, encoding Protein phosphatase 1 regulatory subunit 7 (Q15435). Regulatory subunit of protein phosphatase 1. It is a selective cancer dependency (DepMap: 87.0% of cell lines).

This gene encodes a protein subunit that regulates the activity of the serine/threonine phosphatase, protein phosphatase-1. The encoded protein is required for completion of the mitotic cycle and for targeting protein phosphatase-1 to mitotic kinetochores. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 5510 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 57 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 87.0% of screened cell lines
• MANE Select transcript: NM_002712

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9295
Approved symbol	PPP1R7
Name	protein phosphatase 1 regulatory subunit 7
Location	2q37.3
Locus type	gene with protein product
Status	Approved
Aliases	sds22
Ensembl gene	ENSG00000115685
Ensembl biotype	protein_coding
OMIM	602877
Entrez	5510

Gene structure

Transcript identifiers

Ensembl transcripts: 37 — 30 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000234038, ENST00000272983, ENST00000401987, ENST00000402734, ENST00000404405, ENST00000406106, ENST00000407025, ENST00000415769, ENST00000423280, ENST00000427172, ENST00000438799, ENST00000439916, ENST00000450367, ENST00000467159, ENST00000473017, ENST00000479821, ENST00000485630, ENST00000491715, ENST00000493374, ENST00000498170, ENST00000875849, ENST00000875850, ENST00000875851, ENST00000875852, ENST00000875853, ENST00000875854, ENST00000875855, ENST00000875856, ENST00000930489, ENST00000930490, ENST00000930491, ENST00000930492, ENST00000930493, ENST00000930494, ENST00000969145, ENST00000969146, ENST00000969147

RefSeq mRNA: 7 — MANE Select: NM_002712 NM_001282409, NM_001282410, NM_001282411, NM_001282412, NM_001282413, NM_001282414, NM_002712

CCDS: CCDS2546, CCDS63190, CCDS63192, CCDS63193, CCDS63194

Canonical transcript exons

ENST00000234038 — 10 exons

Exon	Start	End
ENSE00001943874	241182647	241183652
ENSE00003479245	241160332	241160494
ENSE00003507054	241153476	241153604
ENSE00003576075	241163285	241163401
ENSE00003627445	241159213	241159343
ENSE00003635026	241150467	241150547
ENSE00003640918	241169781	241169867
ENSE00003643578	241158484	241158549
ENSE00003681038	241166337	241166441
ENSE00003694242	241157807	241157862

Expression profiles

Bgee: expression breadth ubiquitous, 299 present calls, max score 99.00.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 49.7584 / max 660.2663, expressed in 1817 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
26499	47.0192	1817
26496	2.3623	954
26497	0.2104	83
26498	0.1495	74
26500	0.0171	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	99.00	gold quality
left testis	UBERON:0004533	98.98	gold quality
nucleus accumbens	UBERON:0001882	98.53	gold quality
caudate nucleus	UBERON:0001873	98.39	gold quality
putamen	UBERON:0001874	98.31	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	98.05	gold quality
sperm	CL:0000019	97.93	gold quality
right frontal lobe	UBERON:0002810	97.86	gold quality
adult organism	UBERON:0007023	97.69	gold quality
male germ cell	CL:0000015	97.59	gold quality
testis	UBERON:0000473	97.58	gold quality
right uterine tube	UBERON:0001302	97.51	gold quality
prefrontal cortex	UBERON:0000451	97.43	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.20	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	97.16	gold quality
monocyte	CL:0000576	97.08	gold quality
esophagus mucosa	UBERON:0002469	96.93	gold quality
cingulate cortex	UBERON:0003027	96.87	gold quality
leukocyte	CL:0000738	96.86	gold quality
mononuclear cell	CL:0000842	96.86	gold quality
granulocyte	CL:0000094	96.85	gold quality
esophagus	UBERON:0001043	96.85	gold quality
right atrium auricular region	UBERON:0006631	96.84	gold quality
amygdala	UBERON:0001876	96.83	gold quality
lower esophagus	UBERON:0013473	96.81	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.81	gold quality
anterior cingulate cortex	UBERON:0009835	96.78	gold quality
rectum	UBERON:0001052	96.71	gold quality
popliteal artery	UBERON:0002250	96.67	gold quality
tibial artery	UBERON:0007610	96.67	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	28.00
E-MTAB-6058	no	102.33
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

miRNA regulators (miRDB)

42 targeting PPP1R7, 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-4776-3P	100.00	68.73	1340
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4648	99.91	67.00	710
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-137-3P	99.87	74.74	2401
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-7161-5P	99.68	68.92	1592
HSA-MIR-548U	99.65	67.78	1463
HSA-MIR-6839-3P	99.39	68.86	1301
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-5100	99.11	67.52	1098
HSA-MIR-3164	99.02	68.39	1071
HSA-MIR-6820-3P	99.02	68.50	1035
HSA-MIR-5590-5P	98.81	68.78	969
HSA-MIR-6761-5P	98.71	68.03	1504
HSA-MIR-31-5P	98.58	68.35	1239
HSA-MIR-1237-3P	98.55	67.65	1423
HSA-MIR-758-3P	98.42	68.60	1122
HSA-MIR-1267	98.24	69.05	837
HSA-MIR-6842-3P	98.07	66.33	1325
HSA-MIR-12120	98.05	68.44	1768
HSA-MIR-4659B-5P	98.03	66.84	979
HSA-MIR-6819-5P	97.96	66.59	1071
HSA-MIR-515-3P	97.92	67.98	506
HSA-MIR-519E-3P	97.92	68.25	508
HSA-MIR-33B-3P	97.92	67.39	529

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 87.0% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 11)

• Sds22 and Inhibitor-3 form a heterotrimeric complex with PP1, both in cell lysates and after purification. A pool of PP1 is complexly controlled by both Sds22 and Inhibitor-3. (PMID:17630778)
• Sds22 specifically defines protein phosphatase 1 function and localization in mitosis. (PMID:20921135)
• human Sds22 is focally deleted and downregulated in multiple carcinomas, and this downregulation correlates with tumor progression, suggesting that sds22 inactivation may contribute to tumorigenesis and metastatic potential (PMID:21399659)
• It was shown that Repo-Man and Sds22 contribute to timely Aurora B kinase substrate dephosphorylation on anaphase chromatin. (PMID:22801782)
• a model in which I3 regulates an SDS22-mediated PP1 activation step in solution that precedes SDS22 dissociation and transfer of PP1 to kinetochores, and which is required for PP1 to efficiently antagonize Aurora B. (PMID:25298395)
• there is a second, parallel signalling pathway which triggers the relaxation of the polar cell cortex at mid anaphase–independent of furrow formation, centrosomes and microtubules, pathway depends on PP1 phosphatase and regulatory subunit Sds22 (PMID:26168397)
• Mechanistically, the phosphorylation of Sds22 by PLK1 strengthens the binding of Sds22 to PP1 and inhibits the dephosphorylation of Thr(232) of Aurora B to ensure a robust, error-free metaphase-anaphase transition. (PMID:27557660)
• a Fra-1-miR-134 axis drives a positive feedback loop that amplifies ERK/JNK signaling and reduces chemosensitivity in ovarian cancer cells. (PMID:27685628)
• Ppp1r7 may play a central role in regulating the PP1 interactome by acting as a competitive molecular “sponge” of PP1c. (PMID:29669786)
• our findings revealed that protein phosphatase regulatory subunit SDS22 functions as a putative tumor suppressor by dephosphorylation-mediated inactivation of AKT and MAPK signaling pathways. (PMID:30500680)
• Structural and biochemical studies revealed that the concave side of SDS22 likely interacts with PP1 helices alpha5 and alpha6, which are distal from the binding sites of many previously described PP1 interactors. Accordingly, SDS22 would act as a “third” subunit of multiple PP1 holoenzymes. The crystal structure of SDS22 also revealed a large basic surface patch that enables binding of a phosphorylated form of BCLAF1. (PMID:30661852)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
danio_rerio	ano7	ENSDARG00000104834
rattus_norvegicus	Ppp1r7	ENSRNOG00000016974

Paralogs (10): ANO2 (ENSG00000047617), ANO8 (ENSG00000074855), ANO1 (ENSG00000131620), ANO3 (ENSG00000134343), ANO7 (ENSG00000146205), ANO4 (ENSG00000151572), ANO10 (ENSG00000160746), ANO5 (ENSG00000171714), ANO6 (ENSG00000177119), ANO9 (ENSG00000185101)

Protein

Protein identifiers

Protein phosphatase 1 regulatory subunit 7 — Q15435 (reviewed: Q15435)

Alternative names: Protein phosphatase 1 regulatory subunit 22

All UniProt accessions (9): Q15435, A0A140VK83, B5MBZ8, C9J177, C9JD73, C9JRC4, H7C003, H7C118, H7C3Q5

UniProt curated annotations — full annotation on UniProt →

Function. Regulatory subunit of protein phosphatase 1.

Subunit / interactions. Interacts with PPP1CA, PPP1CB and PPP1CC/PPP1G isoform 1.

Subcellular location. Nucleus.

Tissue specificity. Widely expressed.

Similarity. Belongs to the SDS22 family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q15435-1	1, sds22alpha1	yes
Q15435-2	2, sds22alpha2
Q15435-3	3, sds22beta1
Q15435-4	4, sds22beta2
Q15435-5	5

RefSeq proteins (7): NP_001269338, NP_001269339, NP_001269340, NP_001269341, NP_001269342, NP_001269343, NP_002703* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001611	Leu-rich_rpt	Repeat
IPR003591	Leu-rich_rpt_typical-subtyp	Repeat
IPR003603	U2A’_phosphoprotein32A_C	Domain
IPR025875	Leu-rich_rpt_4	Repeat
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR050576	Cilia_flagella_integrity	Family

Pfam: PF12799, PF14580

UniProt features (56 total): strand 13, repeat 11, mutagenesis site 8, modified residue 7, helix 5, splice variant 4, compositionally biased region 2, turn 2, initiator methionine 1, chain 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
6OBN	X-RAY DIFFRACTION	2.7
6OBP	X-RAY DIFFRACTION	2.7
6MKY	X-RAY DIFFRACTION	2.9
6HKW	X-RAY DIFFRACTION	3.09
8U5G	X-RAY DIFFRACTION	3.2
8B5R	ELECTRON MICROSCOPY	6.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15435-F1	87.54	0.82

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 (7): 2, 12, 24, 27, 44, 47, 322

Mutagenesis-validated functional residues (8):

Position	Phenotype
148	completely abolishes the interaction with protein phosphatase 1.
170	severely impaired the binding of protein phosphatase 1.
192	completely abolishes the interaction with protein phosphatase 1.
214	completely abolishes the interaction with protein phosphatase 1.
280	severely impairs the binding of protein phosphatase 1.
300	completely abolishes the interaction with protein phosphatase 1.
302	completely abolishes the interaction with protein phosphatase 1.
327	completely abolishes the interaction with protein phosphatase 1.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 186 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, MORF_MTA1, MORF_MBD4, MORF_RAB5A, PAL_PRMT5_TARGETS_UP, MORF_RAD21, MORF_PSMC2, CAGCTG_AP4_Q5, AGGCACT_MIR5153P, SMITH_TERT_TARGETS_DN, MORF_SKP1A, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, MORF_ATOX1, MORF_CTBP1, CHUANG_OXIDATIVE_STRESS_RESPONSE_DN

GO Biological Process (1): mRNA splicing, via spliceosome (GO:0000398)

GO Molecular Function (4): protein phosphatase regulator activity (GO:0019888), enzyme regulator activity (GO:0030234), protein binding (GO:0005515), U2 snRNA binding (GO:0030620)

GO Cellular Component (4): nucleus (GO:0005634), chromosome (GO:0005694), cytoplasm (GO:0005737), extracellular exosome (GO:0070062)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
phosphoprotein phosphatase activity	1
phosphatase regulator activity	1
protein phosphatase binding	1
catalytic activity	1
molecular function regulator activity	1
binding	1
snRNA binding	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1
extracellular vesicle	1

Protein interactions and networks

STRING

2307 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PPP1R7	PASK	Q96RG2	936
PPP1R7	PPP1CC	P36873	897
PPP1R7	PPP1CB	P37140	825
PPP1R7	UCK2	Q9BZX2	764
PPP1R7	PPP1R11	O60927	717
PPP1R7	CDCA2	Q69YH5	690
PPP1R7	PPP1CA	P08129	660
PPP1R7	PPP1R12A	O14974	644
PPP1R7	PPP1R8	Q12972	620
PPP1R7	PPP1R2	P41236	581
PPP1R7	LRR1	Q96L50	563
PPP1R7	AURKB	Q96GD4	553
PPP1R7	PPP1R10	Q96QC0	552
PPP1R7	PIM1	P11309	550
PPP1R7	KNL1	Q8NG31	478

IntAct

113 interactions, top by confidence:

A	B	Type	Score
SH2D4A	PPP1CB	psi-mi:“MI:0914”(association)	0.960
UBXN2A	VCP	psi-mi:“MI:0914”(association)	0.940
PPP1CB	PPP1R7	psi-mi:“MI:0915”(physical association)	0.930
UBXN2B	VCP	psi-mi:“MI:0914”(association)	0.910
PPP1R7	PPP1CC	psi-mi:“MI:0914”(association)	0.890
PPP1CA	PPP1R7	psi-mi:“MI:0915”(physical association)	0.870
PPP1CB	CCDC85C	psi-mi:“MI:0914”(association)	0.750
PPP1CB	CCDC85C	psi-mi:“MI:2364”(proximity)	0.750
PPP1CC	CCDC85C	psi-mi:“MI:0914”(association)	0.740
PPP1CC	CCDC85C	psi-mi:“MI:2364”(proximity)	0.740
VCP	UBXN8	psi-mi:“MI:0914”(association)	0.690
PPP1CA	CCDC85C	psi-mi:“MI:0914”(association)	0.670
PPP1CA	CCDC85C	psi-mi:“MI:2364”(proximity)	0.670
HRG	PLSCR1	psi-mi:“MI:0914”(association)	0.590
PPP1R7	USHBP1	psi-mi:“MI:0915”(physical association)	0.560
USHBP1	PPP1R7	psi-mi:“MI:0915”(physical association)	0.560
MAGEB3	PPP1R7	psi-mi:“MI:0915”(physical association)	0.560
MAGEB3	PPP1R7	psi-mi:“MI:0914”(association)	0.560
DNAAF11	PPP1R7	psi-mi:“MI:0915”(physical association)	0.530
PRICKLE3	SIAH2	psi-mi:“MI:0914”(association)	0.530
UBXN2A	PPP1R11	psi-mi:“MI:0914”(association)	0.530
PPP1R13B	CCDC85C	psi-mi:“MI:0914”(association)	0.530

BioGRID (171): USHBP1 (Two-hybrid), PPP1CC (Affinity Capture-MS), PPP1CA (Affinity Capture-MS), PPP1R7 (Affinity Capture-MS), PPP1R7 (Affinity Capture-MS), PPP1R7 (Affinity Capture-MS), PPP1R7 (Affinity Capture-MS), PPP1R2 (Co-fractionation), PPP1R7 (Co-fractionation), PPP1R7 (Co-fractionation), USP7 (Co-fractionation), VPS29 (Co-fractionation), PPP1R7 (Two-hybrid), PPP1R7 (Two-hybrid), PPP1R7 (Affinity Capture-MS)

ESM2 similar proteins: A0A096MJZ0, D0MYB4, O35125, O94489, P09661, P0C895, P11745, P22194, P36047, P41391, P43333, P45969, P57784, Q05A62, Q08963, Q15435, Q28G94, Q2KID4, Q32PL1, Q3T0W4, Q3UM45, Q4LDG9, Q4P5F9, Q4R8Y8, Q4V8D9, Q4WV66, Q54Q39, Q5BGW9, Q5FVQ9, Q5HZV9, Q5RFS7, Q5U378, Q5U508, Q641R9, Q6BT60, Q6C417, Q6DHB1, Q6DIQ3, Q6GPJ5, Q7S9P4

Diamond homologs: P22194, P36047, Q15435, Q32PL1, Q3T0W4, Q3UM45, Q5HZV9, Q5RFS7, Q6DIQ3, P45969

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 89 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.

GO biological processes:

GO term	Partners	Fold	FDR
protein stabilization	9	7.6×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1809 predictions. Top by Δscore:

Variant	Effect	Δscore
2:241157805:A:AG	acceptor_gain	1.0000
2:241157806:G:GT	acceptor_gain	1.0000
2:241157806:GA:G	acceptor_gain	1.0000
2:241157806:GAA:G	acceptor_gain	1.0000
2:241157806:GAAGA:G	acceptor_gain	1.0000
2:241157858:CAGAG:C	donor_loss	1.0000
2:241157859:AGAGG:A	donor_loss	1.0000
2:241157860:GAG:G	donor_gain	1.0000
2:241157861:AGG:A	donor_loss	1.0000
2:241157862:GG:G	donor_loss	1.0000
2:241157863:G:GA	donor_loss	1.0000
2:241157864:T:G	donor_loss	1.0000
2:241159211:A:AG	acceptor_gain	1.0000
2:241159212:G:GG	acceptor_gain	1.0000
2:241159212:GA:G	acceptor_gain	1.0000
2:241159340:TGGA:T	donor_gain	1.0000
2:241159341:GGA:G	donor_gain	1.0000
2:241159341:GGAG:G	donor_gain	1.0000
2:241159342:GA:G	donor_gain	1.0000
2:241159342:GAG:G	donor_gain	1.0000
2:241159342:GAGT:G	donor_loss	1.0000
2:241159343:AGT:A	donor_loss	1.0000
2:241159344:G:GG	donor_gain	1.0000
2:241159344:GTGA:G	donor_loss	1.0000
2:241159345:T:A	donor_loss	1.0000
2:241159576:G:GG	donor_gain	1.0000
2:241159631:G:T	donor_gain	1.0000
2:241159656:A:T	donor_gain	1.0000
2:241160330:A:AC	acceptor_loss	1.0000
2:241160330:AG:A	acceptor_gain	1.0000

AlphaMissense

2404 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:241159233:T:A	N108K	1.000
2:241159233:T:G	N108K	1.000
2:241159299:C:A	N130K	1.000
2:241159299:C:G	N130K	1.000
2:241160348:T:C	F151L	1.000
2:241160350:T:A	F151L	1.000
2:241160350:T:G	F151L	1.000
2:241163341:C:A	N218K	1.000
2:241163341:C:G	N218K	1.000
2:241166342:C:A	N240K	1.000
2:241166342:C:G	N240K	1.000
2:241166408:T:A	N262K	1.000
2:241166408:T:G	N262K	1.000
2:241169813:T:A	N284K	1.000
2:241169813:T:G	N284K	1.000
2:241169865:T:A	W302R	1.000
2:241169865:T:C	W302R	1.000
2:241182658:T:A	N306K	1.000
2:241182658:T:G	N306K	1.000
2:241182717:T:A	V326E	1.000
2:241182733:C:A	N331K	1.000
2:241182733:C:G	N331K	1.000
2:241182800:G:C	D354H	1.000
2:241182801:A:T	D354V	1.000
2:241159217:T:C	L103P	0.999
2:241159223:T:C	L105P	0.999
2:241159226:G:C	R106P	0.999
2:241159283:T:C	L125P	0.999
2:241159289:T:C	L127P	0.999
2:241160337:T:C	L147P	0.999

dbSNP variants (sampled 300 via entrez): RS1000007756 (2:241164981 G>A), RS1000010692 (2:241149177 G>A,C), RS1000041848 (2:241148985 C>A), RS1000074803 (2:241177384 T>G), RS1000195562 (2:241153976 T>G), RS1000405882 (2:241160215 C>T), RS1000593737 (2:241161780 G>A), RS1000671769 (2:241155708 G>T), RS1000782149 (2:241171877 G>A,C), RS1000807485 (2:241184087 G>A,T), RS1000813300 (2:241171435 T>A,G), RS1000829152 (2:241161942 C>T), RS1000838528 (2:241183615 T>C), RS1000856567 (2:241177938 G>A), RS1000867300 (2:241173128 T>C,G)

Disease associations

OMIM: gene MIM:602877 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): autism spectrum disorder (MONDO:0005258)

Orphanet (1): NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST012490_141	Femur bone mineral density x serum urate levels interaction	2.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066323 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.34	Kd	45.92	nM	CHEMBL5653589
7.27	ED50	53.26	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149051: Binding affinity to human PPP1R7 incubated for 45 mins by Kinobead based pull down assay	kd	0.0459	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression, increases methylation	3
Acetaminophen	increases expression, decreases expression	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
2,4,6-tribromophenol	decreases expression	1
testosterone enanthate	affects expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
beta-lapachone	decreases expression	1
arsenite	affects binding, increases reaction	1
cobaltous chloride	decreases expression	1
tetrabromobisphenol A	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
hexabrominated diphenyl ether 153	decreases expression	1
LDN 193189	affects cotreatment, increases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	increases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Caffeine	decreases phosphorylation	1
Carbamazepine	affects expression	1
Diclofenac	affects expression	1
Diethylstilbestrol	decreases expression	1
Doxorubicin	decreases expression	1
Hydrogen Peroxide	affects expression	1
Ivermectin	decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	affects expression	1
beta-Naphthoflavone	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652093	Binding	Binding affinity to human PPP1R7 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383	PHASE3	TERMINATED	Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493	PHASE3	COMPLETED	The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707	PHASE3	UNKNOWN	Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances
NCT05439616	PHASE3	COMPLETED	Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD
NCT06229210	PHASE3	RECRUITING	Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder