PPM1H

Summary

PPM1H (protein phosphatase, Mg2+/Mn2+ dependent 1H, HGNC:18583) is a protein-coding gene on chromosome 12q14.1-q14.2, encoding Protein phosphatase 1H (Q9ULR3). Dephosphorylates CDKN1B at ‘Thr-187’, thus removing a signal for proteasomal degradation.

Enables identical protein binding activity and phosphoprotein phosphatase activity. Predicted to be involved in signal transduction. Located in cytoplasm and nucleoplasm.

Source: NCBI Gene 57460 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 73 total
• MANE Select transcript: NM_020700

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18583
Approved symbol	PPM1H
Name	protein phosphatase, Mg2+/Mn2+ dependent 1H
Location	12q14.1-q14.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1157, FLJ13253, NERPP-2C
Ensembl gene	ENSG00000111110
Ensembl biotype	protein_coding
OMIM	616016
Entrez	57460

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding_CDS_not_defined, 2 protein_coding, 1 retained_intron

ENST00000228705, ENST00000547857, ENST00000548414, ENST00000551214, ENST00000551519, ENST00000938249

RefSeq mRNA: 1 — MANE Select: NM_020700 NM_020700

CCDS: CCDS44934

Canonical transcript exons

ENST00000228705 — 10 exons

Exon	Start	End
ENSE00000751121	62788226	62788338
ENSE00001177242	62643994	62648636
ENSE00001286618	62801816	62802160
ENSE00001359887	62934492	62935150
ENSE00003478494	62720171	62720289
ENSE00003484175	62832114	62832279
ENSE00003631877	62693936	62693999
ENSE00003632464	62689699	62689806
ENSE00003665346	62737502	62737586
ENSE00003687281	62667178	62667329

Expression profiles

Bgee: expression breadth ubiquitous, 260 present calls, max score 97.75.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.8847 / max 274.5890, expressed in 1298 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
131835	7.6443	1213
131833	1.1392	484
131831	0.5118	249
131830	0.2787	129
131834	0.1688	74
131829	0.0800	32
131832	0.0619	18

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
paraflocculus	UBERON:0005351	97.75	gold quality
cerebellar vermis	UBERON:0004720	97.09	gold quality
Brodmann (1909) area 10	UBERON:0013541	95.15	gold quality
frontal pole	UBERON:0002795	94.23	gold quality
postcentral gyrus	UBERON:0002581	93.69	gold quality
parietal lobe	UBERON:0001872	93.28	gold quality
orbitofrontal cortex	UBERON:0004167	92.29	gold quality
epithelium of nasopharynx	UBERON:0001951	91.90	gold quality
decidua	UBERON:0002450	91.85	gold quality
cerebellum	UBERON:0002037	91.38	gold quality
superior frontal gyrus	UBERON:0002661	91.26	gold quality
middle frontal gyrus	UBERON:0002702	90.89	gold quality
cerebellar cortex	UBERON:0002129	90.71	gold quality
cerebellar hemisphere	UBERON:0002245	90.59	gold quality
mucosa of paranasal sinus	UBERON:0005030	90.59	gold quality
endometrium epithelium	UBERON:0004811	90.42	gold quality
lateral nuclear group of thalamus	UBERON:0002736	90.32	gold quality
endometrium	UBERON:0001295	90.08	gold quality
pons	UBERON:0000988	89.96	gold quality
bronchial epithelial cell	CL:0002328	89.89	gold quality
palpebral conjunctiva	UBERON:0001812	89.84	gold quality
Brodmann (1909) area 23	UBERON:0013554	89.56	gold quality
superior vestibular nucleus	UBERON:0007227	89.50	gold quality
eye	UBERON:0000970	89.47	gold quality
right hemisphere of cerebellum	UBERON:0014890	89.34	gold quality
prefrontal cortex	UBERON:0000451	89.16	gold quality
corpus callosum	UBERON:0002336	88.96	gold quality
epithelium of bronchus	UBERON:0002031	88.76	gold quality
Brodmann (1909) area 46	UBERON:0006483	88.59	gold quality
dorsal plus ventral thalamus	UBERON:0001897	88.55	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.66

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

195 targeting PPM1H, 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-5011-5P	100.00	83.46	5820
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-6755-5P	99.95	65.59	464
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-497-5P	99.92	71.83	2674

Literature-anchored findings (GeneRIF, showing 9)

• PPM1H, overexpressed in colon adenocarcinoma, is associated with CSE1L protein. (PMID:18059182)
• Knockdown of the serine/threonine phosphatase PPM1H confers trastuzumab resistance via reduction in protein levels of the tumor suppressor p27. (PMID:22586611)
• PPM1H acts as a gatekeeper to prevent excessive BMP signaling through dephosphorylation and subsequent nuclear exclusion of P-Smad1/5/8 proteins. (PMID:24732009)
• PPM1H may be a new tumor-suppressor factor for pancreatic cancer and provides new insight into molecular targets for gene therapy of pancreatic cancer (PMID:27599670)
• Lack of tumour PPM1H expression identifies a patient subgroup with a high relapse risk, and CRC cells with low expression of PPM1H activate cancer-association fibroblasts (CAFs) and inversely get promoted by CAFs. (PMID:30988394)
• PPM1H acts as a key modulator of LRRK2 signaling by controlling dephosphorylation of Rab proteins (PMID:31663853)
• PPM1H is an independent prognostic biomarker of non-small cell lung cancer. (PMID:33847131)
• Regulatory imbalance between LRRK2 kinase, PPM1H phosphatase, and ARF6 GTPase disrupts the axonal transport of autophagosomes. (PMID:37133994)
• Localization of PPM1H phosphatase tunes Parkinson’s disease-linked LRRK2 kinase-mediated Rab GTPase phosphorylation and ciliogenesis. (PMID:37889931)

Cross-species orthologs

12 orthologs

Organism	Symbol	Gene ID
danio_rerio	ppm1h	ENSDARG00000063684
mus_musculus	Ppm1h	ENSMUSG00000034613
rattus_norvegicus	Ppm1h	ENSRNOG00000004314
drosophila_melanogaster	Pdp	FBGN0029958
drosophila_melanogaster	CG10376	FBGN0032702
drosophila_melanogaster	Ppm1	FBGN0035143
drosophila_melanogaster	CG17746	FBGN0035425
drosophila_melanogaster	Nil	FBGN0039421
drosophila_melanogaster	alph	FBGN0086361
caenorhabditis_elegans		WBGENE00006460
caenorhabditis_elegans		WBGENE00018362
caenorhabditis_elegans	pdp-1	WBGENE00022832

Paralogs (16): PPM1F (ENSG00000100034), TAB1 (ENSG00000100324), PPM1A (ENSG00000100614), PPM1G (ENSG00000115241), ILKAP (ENSG00000132323), PPM1B (ENSG00000138032), PPM1J (ENSG00000155367), PPM1L (ENSG00000163590), PPM1K (ENSG00000163644), PPM1M (ENSG00000164088), PDP1 (ENSG00000164951), PPM1D (ENSG00000170836), PDP2 (ENSG00000172840), PPM1E (ENSG00000175175), PP2D1 (ENSG00000183977), PPM1N (ENSG00000213889)

Protein

Protein identifiers

Protein phosphatase 1H — Q9ULR3 (reviewed: Q9ULR3)

All UniProt accessions (1): Q9ULR3

UniProt curated annotations — full annotation on UniProt →

Function. Dephosphorylates CDKN1B at ‘Thr-187’, thus removing a signal for proteasomal degradation.

Subcellular location. Nucleus. Cytoplasm.

Miscellaneous. May act as a suppressor of trastuzumab resistance.

Similarity. Belongs to the PP2C family.

RefSeq proteins (1): NP_065751* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001932	PPM-type_phosphatase-like_dom	Domain
IPR015655	PP2C	Family
IPR036457	PPM-type-like_dom_sf	Homologous_superfamily

Pfam: PF00481

Catalyzed reactions (Rhea), 2 shown:

• O-phospho-L-seryl-[protein] + H2O = L-seryl-[protein] + phosphate (RHEA:20629)
• O-phospho-L-threonyl-[protein] + H2O = L-threonyl-[protein] + phosphate (RHEA:47004)

UniProt features (59 total): strand 22, helix 19, modified residue 8, turn 5, chain 1, domain 1, mutagenesis site 1, sequence conflict 1, region of interest 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
7N0Z	X-RAY DIFFRACTION	2.19
7L4J	X-RAY DIFFRACTION	2.45
7L4I	X-RAY DIFFRACTION	2.58
7KPR	X-RAY DIFFRACTION	3.09

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9ULR3-F1	85.06	0.73

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 (8): 422, 7, 113, 124, 211, 213, 221, 224

Mutagenesis-validated functional residues (1):

Position	Phenotype
153	decreased enzymatic activity.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 200 (showing top): SHEPARD_CRASH_AND_BURN_MUTANT_UP, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, MODULE_493, FOSTER_TOLERANT_MACROPHAGE_DN, ONDER_CDH1_TARGETS_2_UP, TIEN_INTESTINE_PROBIOTICS_24HR_UP, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, HADDAD_T_LYMPHOCYTE_AND_NK_PROGENITOR_UP, GRYDER_PAX3FOXO1_TOP_ENHANCERS, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, GOCC_SYNAPSE, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, GOMF_PROTEIN_SERINE_THREONINE_PHOSPHATASE_ACTIVITY, GOMF_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY

GO Biological Process (1): protein dephosphorylation (GO:0006470)

GO Molecular Function (6): phosphoprotein phosphatase activity (GO:0004721), [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity (GO:0004741), identical protein binding (GO:0042802), protein serine/threonine phosphatase activity (GO:0004722), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), mitochondrion (GO:0005739), glutamatergic synapse (GO:0098978), synapse (GO:0045202)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membrane-bounded organelle	2
cellular anatomical structure	2
dephosphorylation	1
protein modification process	1
phosphatase activity	1
catalytic activity, acting on a protein	1
protein serine/threonine phosphatase activity	1
protein binding	1
phosphoprotein phosphatase activity	1
binding	1
catalytic activity	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
synapse	1
cell junction	1

Protein interactions and networks

STRING

476 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PPM1H	RILPL2	Q969X0	707
PPM1H	RILPL1	Q5EBL4	684
PPM1H	RAB29	O14966	568
PPM1H	PPTC7	Q8NI37	532
PPM1H	RAB8A	P24407	516
PPM1H	PPM1K	Q8N3J5	515
PPM1H	RAB10	P61026	489
PPM1H	RAB35	Q15286	460
PPM1H	ACBD3	Q9H3P7	453
PPM1H	PPM1D	O15297	444
PPM1H	SLC71A3P	Q5VZR4	430
PPM1H	OR10G6	Q8NH81	418
PPM1H	RILP	Q96NA2	418
PPM1H	ILKAP	Q9H0C8	408
PPM1H	PHLPP1	O60346	381

IntAct

100 interactions, top by confidence:

A	B	Type	Score
YWHAB	PIK3C2A	psi-mi:“MI:0914”(association)	0.800
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAB	BLTP3B	psi-mi:“MI:0914”(association)	0.610
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
PPM1H	PPM1H	psi-mi:“MI:0915”(physical association)	0.560
YWHAG	SHTN1	psi-mi:“MI:0914”(association)	0.560
PPM1H	YWHAQ	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
	RAB8A	psi-mi:“MI:0203”(dephosphorylation reaction)	0.440
	RAB10	psi-mi:“MI:0203”(dephosphorylation reaction)	0.440
PPM1H	RAB10	psi-mi:“MI:0914”(association)	0.430
PPM1H	RAB10	psi-mi:“MI:0403”(colocalization)	0.430
ACBD3	PIP4P1	psi-mi:“MI:0914”(association)	0.350
ACBD3	BCKDHB	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
PPM1H	RAB8A	psi-mi:“MI:0914”(association)	0.350
PPM1H	ACACB	psi-mi:“MI:0914”(association)	0.350
PPM1H	RAB5A	psi-mi:“MI:0914”(association)	0.350
PPM1J	ACTR3	psi-mi:“MI:0914”(association)	0.350
YWHAH	SHTN1	psi-mi:“MI:0914”(association)	0.350
YWHAQ	MCRIP1	psi-mi:“MI:0914”(association)	0.350
CEP63	CIT	psi-mi:“MI:0914”(association)	0.350
CEP63	CIBAR1	psi-mi:“MI:0914”(association)	0.350
YWHAE	DEPDC5	psi-mi:“MI:0914”(association)	0.350
YWHAG	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAH	FOXO6	psi-mi:“MI:0914”(association)	0.350
ZNF641	ROCK2	psi-mi:“MI:0914”(association)	0.350

BioGRID (135): PPM1H (Affinity Capture-RNA), PPM1H (Affinity Capture-RNA), BLM (Affinity Capture-MS), PPM1J (Affinity Capture-MS), YWHAB (Affinity Capture-MS), YWHAE (Affinity Capture-MS), YWHAG (Affinity Capture-MS), YWHAH (Affinity Capture-MS), YWHAQ (Affinity Capture-MS), YWHAZ (Affinity Capture-MS), PPM1H (Affinity Capture-MS), SLC12A4 (Proximity Label-MS), LNPEP (Proximity Label-MS), IGF2R (Proximity Label-MS), STX16 (Proximity Label-MS)

ESM2 similar proteins: A0A8I5ZNK2, A6K136, B9N1F9, E0CSI1, O62829, O62830, O75688, O88483, O95747, P00860, P09057, P11926, P20650, P27117, P27118, P27119, P27120, P33124, P35813, P35814, P35815, P35816, P36993, P43292, P49443, P53041, P53042, P54275, P70704, P93006, Q28DF4, Q2PC20, Q3UV70, Q3UYC0, Q5M821, Q5R495, Q5RA52, Q60676, Q68FK8, Q6ING9

Diamond homologs: Q05AL2, Q149T7, Q28DF4, Q2RBJ6, Q3EAF9, Q3EAZ3, Q3UYC0, Q5JR12, Q5M821, Q641Y6, Q8BU27, Q96MI6, Q9P2J9, Q9ULR3, Q53Q11, Q67UX7, Q8LAY8, Q8RXV3, Q9SLA1, P35182, Q9FIF5, Q9LNW3, Q9SUF4, A5PJZ2, O62830, O75688, P35815, P36993, Q5SGD2, Q8BHN0, O62829, B8NLZ3, F1LNI5, O04719, O15355, O15743, O60346, O80871, O81716, P20650

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 96 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	67.2×	1e-09
Activation of BAD and translocation to mitochondria	6	65.3×	1e-08
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	6	57.6×	3e-08
Activation of BH3-only proteins	6	42.6×	2e-07
RHO GTPases activate PKNs	7	31.7×	8e-08
Intrinsic Pathway for Apoptosis	6	25.1×	3e-06
Translocation of SLC2A4 (GLUT4) to the plasma membrane	8	17.6×	4e-07
SARS-CoV-1-host interactions	6	15.1×	4e-05

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	6	23.9×	1e-04
cellular response to insulin stimulus	6	11.1×	3e-03
intracellular protein localization	7	8.0×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	61
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

3350 predictions. Top by Δscore:

Variant	Effect	Δscore
12:62667174:AAAC:A	donor_loss	1.0000
12:62667175:AACCT:A	donor_loss	1.0000
12:62667176:AC:A	donor_loss	1.0000
12:62667177:C:CT	donor_loss	1.0000
12:62667235:T:TA	donor_gain	1.0000
12:62667325:CTTAC:C	acceptor_gain	1.0000
12:62667326:TTAC:T	acceptor_gain	1.0000
12:62667328:AC:A	acceptor_gain	1.0000
12:62667329:CC:C	acceptor_gain	1.0000
12:62667329:CCTGA:C	acceptor_loss	1.0000
12:62801811:CCTA:C	donor_loss	1.0000
12:62801812:CTAC:C	donor_loss	1.0000
12:62801813:TACC:T	donor_loss	1.0000
12:62801814:A:AC	donor_gain	1.0000
12:62801814:A:AT	donor_loss	1.0000
12:62801815:C:A	donor_loss	1.0000
12:62801815:C:CC	donor_gain	1.0000
12:62832275:TAACC:T	acceptor_gain	1.0000
12:62934490:A:AC	donor_gain	1.0000
12:62934491:C:CC	donor_gain	1.0000
12:62934491:CT:C	donor_gain	1.0000
12:62659038:T:TA	donor_gain	0.9900
12:62663139:T:TA	donor_gain	0.9900
12:62667173:CAAA:C	donor_loss	0.9900
12:62667327:TAC:T	acceptor_gain	0.9900
12:62667327:TACC:T	acceptor_gain	0.9900
12:62667330:C:CC	acceptor_gain	0.9900
12:62737582:TGGCC:T	acceptor_gain	0.9900
12:62788220:GCTTA:G	donor_loss	0.9900
12:62788221:CTTA:C	donor_loss	0.9900

AlphaMissense

3320 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:62648523:A:T	V504D	1.000
12:62648532:G:A	S501F	1.000
12:62648532:G:T	S501Y	1.000
12:62648533:A:G	S501P	1.000
12:62648537:G:C	D499E	1.000
12:62648537:G:T	D499E	1.000
12:62648538:T:A	D499V	1.000
12:62648538:T:C	D499G	1.000
12:62648538:T:G	D499A	1.000
12:62648539:C:A	D499Y	1.000
12:62648539:C:G	D499H	1.000
12:62648540:G:C	D498E	1.000
12:62648540:G:T	D498E	1.000
12:62648541:T:A	D498V	1.000
12:62648541:T:C	D498G	1.000
12:62648541:T:G	D498A	1.000
12:62648542:C:A	D498Y	1.000
12:62648542:C:G	D498H	1.000
12:62648550:C:T	G495D	1.000
12:62648551:C:G	G495R	1.000
12:62648573:C:A	W487C	1.000
12:62648573:C:G	W487C	1.000
12:62648574:C:G	W487S	1.000
12:62648575:A:G	W487R	1.000
12:62648575:A:T	W487R	1.000
12:62648595:C:A	G480V	1.000
12:62648595:C:T	G480D	1.000
12:62648596:C:A	G480C	1.000
12:62648596:C:G	G480R	1.000
12:62648598:C:G	R479P	1.000

dbSNP variants (sampled 300 via entrez): RS1000000627 (12:62718906 T>C,G), RS1000006172 (12:62769707 C>T), RS1000022097 (12:62749639 T>C,G), RS1000049262 (12:62676942 A>G), RS1000065309 (12:62699965 A>G), RS1000083144 (12:62922281 T>C), RS1000089932 (12:62924455 T>C), RS1000100531 (12:62703347 G>A), RS1000109651 (12:62670850 G>A,T), RS1000132872 (12:62703057 C>T), RS1000148137 (12:62795483 G>A,C), RS1000158217 (12:62782529 C>G), RS1000159714 (12:62735603 G>C), RS1000160393 (12:62645578 T>C), RS1000160423 (12:62853721 T>C)

Disease associations

OMIM: gene MIM:616016 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST000838_8	Waist circumference	5.000000e-06
GCST001762_328	Obesity-related traits	4.000000e-06
GCST003174_20	Sense of smell	8.000000e-06
GCST006979_1063	Heel bone mineral density	3.000000e-10
GCST007565_69	Morning person	4.000000e-18
GCST007576_361	Chronotype	4.000000e-18
GCST007576_395	Chronotype	1.000000e-17
GCST010396_185	Gut microbiota (bacterial taxa, hurdle binary method)	3.000000e-06
GCST012049_6	High density lipoprotein cholesterol levels	2.000000e-07
GCST012194_15	Obsessive-compulsive traits	3.000000e-06
GCST012255_2	Response to antioxidants and zinc in age-related macular degeneration (disease progression)	3.000000e-06
GCST90002392_387	Mean corpuscular volume	6.000000e-12
GCST90002404_140	Red cell distribution width	1.000000e-12

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0005109	energy expenditure
EFO:0009270	heel bone mineral density
EFO:0008328	chronotype measurement
EFO:0007874	gut microbiome measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0008336	disease progression measurement
EFO:0009188	Red cell distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	8
Valproic Acid	increases expression, affects expression, affects cotreatment	6
methylmercuric chloride	increases expression, affects cotreatment	3
trichostatin A	affects cotreatment, increases expression	3
bisphenol A	affects expression, decreases methylation	2
sodium arsenite	decreases expression, affects cotreatment, increases abundance	2
mercuric bromide	affects cotreatment, increases expression	2
entinostat	increases expression, affects cotreatment	2
Air Pollutants	decreases expression, increases abundance	2
Lead	affects expression, increases expression	2
Nickel	decreases expression	2
Phenylmercuric Acetate	increases expression, affects cotreatment	2
Smoke	decreases expression, increases abundance	2
Tetrachlorodibenzodioxin	decreases expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	affects expression, decreases expression	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
nickel sulfate	increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
NSC 689534	affects binding, decreases expression	1

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2BR	Abcam HeLa PPM1H KO	Cancer cell line	Female
CVCL_C7TY	KOLF2.1J PPM1H KO	Induced pluripotent stem cell	Male
CVCL_TF43	HAP1 PPM1H (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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