PPM1L

Summary

PPM1L (protein phosphatase, Mg2+/Mn2+ dependent 1L, HGNC:16381) is a protein-coding gene on chromosome 3q25.33-q26.1, encoding Protein phosphatase 1L (Q5SGD2). Acts as a suppressor of the SAPK signaling pathways by associating with and dephosphorylating MAP3K7/TAK1 and MAP3K5, and by attenuating the association between MAP3K7/TAK1 and MAP2K4 or MAP2K6.

The protein encoded by this gene is a magnesium or manganese-requiring phosphatase that is involved in several signaling pathways. The encoded protein downregulates apoptosis signal-regulating kinase 1, a protein that initiates a signaling cascade that leads to apoptosis when cells are subjected to cytotoxic stresses. This protein also is an endoplasmic reticulum transmembrane protein that helps regulate ceramide transport from the endoplasmic reticulum to the Golgi apparatus. Finally, this gene may be involved in adiposity since it is upregulated in adipose tissues. Several transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 151742 — RefSeq curated summary.

At a glance

• GWAS associations: 22
• Clinical variants (ClinVar): 42 total — 1 pathogenic
• MANE Select transcript: NM_139245

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16381
Approved symbol	PPM1L
Name	protein phosphatase, Mg2+/Mn2+ dependent 1L
Location	3q25.33-q26.1
Locus type	gene with protein product
Status	Approved
Aliases	PP2CE
Ensembl gene	ENSG00000163590
Ensembl biotype	protein_coding
OMIM	611931
Entrez	151742

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000295839, ENST00000464260, ENST00000480117, ENST00000497343, ENST00000498165

RefSeq mRNA: 3 — MANE Select: NM_139245 NM_001317911, NM_001317912, NM_139245

CCDS: CCDS33886, CCDS82868, CCDS82869

Canonical transcript exons

ENST00000498165 — 4 exons

Exon	Start	End
ENSE00001493753	160756231	160756707
ENSE00001885330	161068811	161078902
ENSE00003619494	160961736	160961910
ENSE00003673338	161065403	161065564

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 96.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.3408 / max 124.0407, expressed in 1021 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
39592	4.8677	999
39591	0.2382	108
39595	0.1774	94
39599	0.0575	30

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
Brodmann (1909) area 23	UBERON:0013554	96.32	gold quality
lateral nuclear group of thalamus	UBERON:0002736	94.98	gold quality
endothelial cell	CL:0000115	94.70	gold quality
cortical plate	UBERON:0005343	94.67	gold quality
Brodmann (1909) area 46	UBERON:0006483	94.58	gold quality
middle temporal gyrus	UBERON:0002771	93.87	gold quality
layer of synovial tissue	UBERON:0007616	93.65	gold quality
parotid gland	UBERON:0001831	93.47	gold quality
synovial joint	UBERON:0002217	93.13	gold quality
tibialis anterior	UBERON:0001385	92.79	gold quality
substantia nigra pars compacta	UBERON:0001965	92.51	gold quality
pons	UBERON:0000988	92.45	gold quality
deltoid	UBERON:0001476	92.02	gold quality
substantia nigra pars reticulata	UBERON:0001966	91.93	gold quality
superior frontal gyrus	UBERON:0002661	91.72	gold quality
parietal lobe	UBERON:0001872	91.51	gold quality
postcentral gyrus	UBERON:0002581	91.39	gold quality
entorhinal cortex	UBERON:0002728	90.83	gold quality
palpebral conjunctiva	UBERON:0001812	90.65	gold quality
occipital lobe	UBERON:0002021	90.60	gold quality
lateral globus pallidus	UBERON:0002476	90.26	gold quality
primary visual cortex	UBERON:0002436	90.22	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	89.45	gold quality
cerebellar vermis	UBERON:0004720	89.41	gold quality
eye	UBERON:0000970	88.75	gold quality
oviduct epithelium	UBERON:0004804	88.70	gold quality
biceps brachii	UBERON:0001507	88.41	gold quality
body of tongue	UBERON:0011876	87.35	gold quality
superior vestibular nucleus	UBERON:0007227	87.05	gold quality
quadriceps femoris	UBERON:0001377	86.94	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-119	yes	43.33
E-ANND-3	yes	9.01
E-MTAB-7381	no	99.43

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

395 targeting PPM1L, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-LET-7B-3P	100.00	74.08	3913
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1193	100.00	65.93	529
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-371B-5P	99.99	75.34	4759

Literature-anchored findings (GeneRIF, showing 5)

• cloning and characterization of a novel human protein phosphatase 2C cDNA (PP2C epsilon*) (PMID:15560375)
• These results suggest that PP2Cepsilon maintains ASK1 in an inactive state by dephosphorylation in quiescent cells, supporting the possibility that PP2Cepsilon and PP5 play different roles in H2O2-induced regulation of ASK1 activity. (PMID:17456047)
• CERT is a physiological substrate of PP2Cepsilon and that dephosphorylation of CERT by PP2Cepsilon may play an important role in the regulation of ceramide trafficking from the ER to the Golgi apparatus. (PMID:18165232)
• Genetic variation at chromosome 3 harbors an element that regulates expression of an upstream candidate tumor suppressor, PPM1L, thus providing a novel mechanism for colorectal tumorigenesis. (PMID:19847890)
• identified ACBD3 as an interacting partner of PPM1L, and showed that this association, which recruits PPM1L to ER-Golgi membrane contact sites, is mediated by a GOLD (Golgi dynamics) domain in ACBD3 (PMID:22796112)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ppm1la	ENSDARG00000063218
danio_rerio	ppm1lb	ENSDARG00000089641
mus_musculus	Ppm1l	ENSMUSG00000027784
rattus_norvegicus	Ppm1l	ENSRNOG00000075763
drosophila_melanogaster	CG7115	FBGN0027515

Paralogs (16): PPM1F (ENSG00000100034), TAB1 (ENSG00000100324), PPM1A (ENSG00000100614), PPM1H (ENSG00000111110), PPM1G (ENSG00000115241), ILKAP (ENSG00000132323), PPM1B (ENSG00000138032), PPM1J (ENSG00000155367), PPM1K (ENSG00000163644), PPM1M (ENSG00000164088), PDP1 (ENSG00000164951), PPM1D (ENSG00000170836), PDP2 (ENSG00000172840), PPM1E (ENSG00000175175), PP2D1 (ENSG00000183977), PPM1N (ENSG00000213889)

Protein

Protein identifiers

Protein phosphatase 1L — Q5SGD2 (reviewed: Q5SGD2)

Alternative names: Protein phosphatase 1-like, Protein phosphatase 2C isoform epsilon

All UniProt accessions (1): Q5SGD2

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a suppressor of the SAPK signaling pathways by associating with and dephosphorylating MAP3K7/TAK1 and MAP3K5, and by attenuating the association between MAP3K7/TAK1 and MAP2K4 or MAP2K6.

Subunit / interactions. Interacts with MAP3K7/TAK1. Interacts with MAP3K5.

Subcellular location. Membrane.

Tissue specificity. Ubiquitous. Highly expressed in heart, placenta, lung, liver, kidney and pancreas.

Cofactor. Binds 2 magnesium or manganese ions per subunit.

Similarity. Belongs to the PP2C family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q5SGD2-1	1	yes
Q5SGD2-2	2
Q5SGD2-3	3
Q5SGD2-4	4

RefSeq proteins (3): NP_001304840, NP_001304841, NP_640338* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000222	PP2C_BS	Binding_site
IPR001932	PPM-type_phosphatase-like_dom	Domain
IPR015655	PP2C	Family
IPR036457	PPM-type-like_dom_sf	Homologous_superfamily

Pfam: PF00481

Enzyme classification (BRENDA):

• EC 3.1.3.16 — protein-serine/threonine phosphatase (BRENDA: 92 organisms, 641 substrates, 468 inhibitors, 127 Km, 67 kcat entries)

Substrate kinetics (BRENDA)

59 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
6,8-DIFLUORO-4-METHYLUMBELLIFERYL PHOSPHATE	0.023–0.862	22
4-NITROPHENYL PHOSPHATE	0.0028–12.7	13
P-NITROPHENYL PHOSPHATE	3–200	11
RRAPTVA	0.058–1.954	4
PHOSPHOCASEIN	0.0001–0.002	3
PHOSPHOHISTONE	0.0023–0.0723	3
PHOSPHORYLATED MYOSIN LIGHT CHAIN PEPTIDE	0.01–0.11	3
PHOSPHOSERINE-MYELIN BASIC PROTEIN	0.0004–0.022	3
DLDVPIPGRFDRRVSVAAE	0.0006–0.0138	2
DLDVPIPGRFDRRVY(P)VAAE	0.0025–0.023	2
PHOSPHORYLASE A	0.004–0.021	2
RRA(PT)VA	0.0536–0.308	2
80S-RIBOSOME	0.0027	1
AAAPTVA	0.206	1
AGPALSPVPPV	0.357	1

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 (16 total): splice variant 5, binding site 5, topological domain 2, chain 1, sequence variant 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5SGD2-F1	89.78	0.74

Functional residue map

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

Ligand- & substrate-binding residues (5): 128; 128; 129; 302; 342

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-1660661	Sphingolipid de novo biosynthesis

MSigDB gene sets: 229 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, CCAWYNNGAAR_UNKNOWN, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOZGIT_ESR1_TARGETS_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_DN, TGACCTY_ERR1_Q2, CHANDRAN_METASTASIS_DN, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, MODULE_205, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, REACTOME_SPHINGOLIPID_METABOLISM, GOBP_SPHINGOLIPID_BIOSYNTHETIC_PROCESS, GOBP_MEMBRANE_LIPID_METABOLIC_PROCESS

GO Biological Process (5): MAPK cascade (GO:0000165), signal transduction (GO:0007165), cell surface receptor protein serine/threonine kinase signaling pathway (GO:0007178), sphingolipid biosynthetic process (GO:0030148), protein dephosphorylation (GO:0006470)

GO Molecular Function (5): protein serine/threonine phosphatase activity (GO:0004722), metal ion binding (GO:0046872), phosphoprotein phosphatase activity (GO:0004721), hydrolase activity (GO:0016787), cation binding (GO:0043169)

GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), extracellular exosome (GO:0070062), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Sphingolipid metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular signaling cassette	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
enzyme-linked receptor protein signaling pathway	1
sphingolipid metabolic process	1
lipid biosynthetic process	1
dephosphorylation	1
protein modification process	1
phosphoprotein phosphatase activity	1
cation binding	1
phosphatase activity	1
catalytic activity, acting on a protein	1
catalytic activity	1
ion binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
extracellular vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1669 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PPM1L	LACTB	P83096	884
PPM1L	PPP5C	P53041	706
PPM1L	MAP2K3	P46734	576
PPM1L	MAP2K4	P45985	570
PPM1L	MAP3K7	O43318	564
PPM1L	LPL	P06858	562
PPM1L	MAP2K6	P52564	552
PPM1L	GAS7	O60861	545
PPM1L	PPTC7	Q8NI37	541
PPM1L	MAP3K5	Q99683	518
PPM1L	ANKRD26	Q9UPS8	495
PPM1L	PI4KB	P78405	478
PPM1L	TAOK2	Q9UL54	470
PPM1L	ARL14	Q8N4G2	450
PPM1L	MCF2L2	Q86YR7	439

IntAct

19 interactions, top by confidence:

A	B	Type	Score
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
SLC30A2	ESYT2	psi-mi:“MI:0914”(association)	0.530
PPM1L	PDGFRB	psi-mi:“MI:0915”(physical association)	0.370
PPM1L	EPHA2	psi-mi:“MI:0915”(physical association)	0.370
PPM1L	TTC27	psi-mi:“MI:0914”(association)	0.350
ATG16L1		psi-mi:“MI:0914”(association)	0.350
KCNA2	TMEM129	psi-mi:“MI:0914”(association)	0.350
TTYH1	TMEM223	psi-mi:“MI:0914”(association)	0.350
SCN4A	C2CD4B	psi-mi:“MI:0914”(association)	0.350
RXFP1	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
PPM1L	TDRD10	psi-mi:“MI:0914”(association)	0.350
SLC22A2	RAB27B	psi-mi:“MI:0914”(association)	0.350
SLC39A12	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A14	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A4	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC9A6	GOLIM4	psi-mi:“MI:0914”(association)	0.350
SLC9C1	PSMD12	psi-mi:“MI:0914”(association)	0.350
SLC9C2	PSMD11	psi-mi:“MI:0914”(association)	0.350

BioGRID (29): PPM1L (Affinity Capture-MS), PPM1L (Two-hybrid), PPM1L (Two-hybrid), PPM1L (Proximity Label-MS), PPM1L (Proximity Label-MS), PPM1L (Affinity Capture-MS), ITPA (Affinity Capture-MS), PPM1L (Affinity Capture-MS), PPM1L (Affinity Capture-MS), PPM1L (Affinity Capture-MS), TDRD10 (Affinity Capture-MS), PPM1L (Affinity Capture-MS), PPM1L (Affinity Capture-MS), PPM1L (Proximity Label-MS), PPM1L (Affinity Capture-MS)

ESM2 similar proteins: A0A7U2MSD6, A0BLX0, A0BQL0, A0CUB5, A0DSB3, A0DTY1, A5PJZ2, G0RT93, O81716, O82637, P35182, P36982, P39966, P40371, P49444, P49596, Q09172, Q09173, Q0D673, Q0IIF0, Q0JAA0, Q19775, Q4WTH5, Q55GV3, Q5SGD2, Q5U3N5, Q5UPZ7, Q5XAP6, Q5Z6F5, Q653S3, Q67UP9, Q6ETK3, Q6GR25, Q7XQU7, Q7XR06, Q7XU84, Q86K21, Q8BHN0, Q8L7I4, Q8LAY8

Diamond homologs: A0A7U2MSD6, A0BLX0, A0BQL0, A0CUB5, A0DSB3, A0DTY1, A3A8Q4, A3A8W2, A3A8W6, A5PJZ2, F1LNI5, G0RT93, O04719, O15355, O15743, O62829, O62830, O75688, O80871, O81716, P20650, P34221, P35813, P35814, P35815, P36993, P38089, P39966, P40371, P49443, P49444, P49593, P49595, P49596, P49597, P49598, P79126, P93006, Q09172, Q09173

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
PPM1L	down-regulates	MAP3K5	dephosphorylation
PPM1L	“up-regulates activity”	ERN1	dephosphorylation
PPM1L	“up-regulates activity”	CERT1	dephosphorylation
PPM1L	“down-regulates activity”	MAP3K7	dephosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 27 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
Transport of small molecules	6	6.9×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	37
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	Pathogenic

SpliceAI

3835 predictions. Top by Δscore:

Variant	Effect	Δscore
3:160756704:AGAG:A	donor_loss	1.0000
3:160756705:GAG:G	donor_gain	1.0000
3:160756706:AGGT:A	donor_loss	1.0000
3:160756707:GGT:G	donor_loss	1.0000
3:160756708:GTA:G	donor_loss	1.0000
3:160756709:T:G	donor_loss	1.0000
3:160961722:T:A	acceptor_gain	1.0000
3:160961728:A:AG	acceptor_gain	1.0000
3:160961728:ATCT:A	acceptor_gain	1.0000
3:160961729:T:G	acceptor_gain	1.0000
3:160961731:T:TA	acceptor_gain	1.0000
3:160961732:GCA:G	acceptor_loss	1.0000
3:160961734:A:AG	acceptor_gain	1.0000
3:160961735:G:GT	acceptor_gain	1.0000
3:160961735:GA:G	acceptor_gain	1.0000
3:160961735:GAC:G	acceptor_gain	1.0000
3:160961735:GACT:G	acceptor_gain	1.0000
3:160961907:GCAG:G	donor_gain	1.0000
3:160961909:AG:A	donor_loss	1.0000
3:160961910:GGTA:G	donor_loss	1.0000
3:160961911:G:A	donor_loss	1.0000
3:160961912:T:A	donor_loss	1.0000
3:161059332:GGA:G	donor_gain	1.0000
3:161059333:GAG:G	donor_gain	1.0000
3:161059335:G:GG	donor_gain	1.0000
3:161065399:TCA:T	acceptor_loss	1.0000
3:161065400:CAG:C	acceptor_loss	1.0000
3:161065401:A:T	acceptor_loss	1.0000
3:161065541:A:T	donor_gain	1.0000
3:160769563:T:A	acceptor_gain	0.9900

AlphaMissense

2389 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:160756606:G:C	G100R	1.000
3:160756607:G:A	G100D	1.000
3:160756607:G:T	G100V	1.000
3:160756613:G:C	R102T	1.000
3:160756613:G:T	R102I	1.000
3:160756614:A:C	R102S	1.000
3:160756614:A:T	R102S	1.000
3:160756625:A:T	E106V	1.000
3:160756627:G:C	D107H	1.000
3:160756628:A:C	D107A	1.000
3:160756628:A:T	D107V	1.000
3:160756631:G:C	R108P	1.000
3:160756691:A:C	D128A	1.000
3:160756691:A:T	D128V	1.000
3:160756692:C:A	D128E	1.000
3:160756692:C:G	D128E	1.000
3:160756693:G:A	G129R	1.000
3:160756693:G:C	G129R	1.000
3:160756693:G:T	G129W	1.000
3:160756694:G:A	G129E	1.000
3:160756694:G:T	G129V	1.000
3:160756696:C:G	H130D	1.000
3:160756698:C:A	H130Q	1.000
3:160756698:C:G	H130Q	1.000
3:161065403:G:A	G192D	1.000
3:161065442:T:C	L205P	1.000
3:161065459:G:C	G211R	1.000
3:161065459:G:T	G211C	1.000
3:161065460:G:A	G211D	1.000
3:161065460:G:T	G211V	1.000

dbSNP variants (sampled 300 via entrez): RS1000012648 (3:160818440 A>G), RS1000018841 (3:161054118 G>A,C), RS1000049234 (3:160776862 G>A), RS1000050054 (3:160820132 C>T), RS1000050529 (3:160917904 A>G), RS1000051229 (3:160929612 A>C,G), RS1000055957 (3:161002079 T>C), RS1000068836 (3:161007144 A>G), RS1000072287 (3:160885336 A>G,T), RS1000086714 (3:160878158 T>G), RS1000086975 (3:160907822 A>G), RS1000089579 (3:161028182 G>T), RS1000096927 (3:160998259 C>A,G), RS1000097086 (3:161045511 C>T), RS1000113695 (3:160975413 A>C,G)

Disease associations

OMIM: gene MIM:611931 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

22 associations (top):

Study	Trait	p-value
GCST001456_2	Kawasaki disease	9.000000e-06
GCST002375_1	Response to methotrexate in rheumatoid arthritis	4.000000e-07
GCST003262_395	Post bronchodilator FEV1	3.000000e-06
GCST003262_398	Post bronchodilator FEV1	3.000000e-06
GCST003262_478	Post bronchodilator FEV1	1.000000e-06
GCST003262_479	Post bronchodilator FEV1	2.000000e-06
GCST003262_481	Post bronchodilator FEV1	6.000000e-07
GCST003262_489	Post bronchodilator FEV1	8.000000e-07
GCST003262_492	Post bronchodilator FEV1	7.000000e-07
GCST003262_493	Post bronchodilator FEV1	7.000000e-07
GCST003264_1063	Post bronchodilator FEV1/FVC ratio	4.000000e-06
GCST003264_1076	Post bronchodilator FEV1/FVC ratio	4.000000e-06
GCST003264_146	Post bronchodilator FEV1/FVC ratio	2.000000e-06
GCST003264_148	Post bronchodilator FEV1/FVC ratio	2.000000e-06
GCST003264_1628	Post bronchodilator FEV1/FVC ratio	1.000000e-06
GCST003264_493	Post bronchodilator FEV1/FVC ratio	3.000000e-06
GCST003265_306	Post bronchodilator FEV1/FVC ratio in COPD	3.000000e-06
GCST007565_47	Morning person	8.000000e-14
GCST009391_1295	Metabolite levels	3.000000e-06
GCST010725_1	Malaria	3.000000e-09
GCST010725_57	Malaria	2.000000e-08
GCST010725_87	Malaria	3.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004314	forced expiratory volume
EFO:0004713	FEV/FVC ratio
EFO:0008328	chronotype measurement
EFO:0010549	xanthosine measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases expression, increases methylation	7
bisphenol A	increases expression, increases methylation	3
sodium arsenite	increases expression, decreases expression, increases abundance, affects cotreatment, increases methylation (+1 more)	3
Acetaminophen	affects cotreatment, increases expression	2
Benzo(a)pyrene	decreases methylation, decreases expression	2
Nickel	decreases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
echimidine	decreases expression, increases metabolic processing	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
riddelliine	decreases expression, increases metabolic processing	1
perfluorooctanoic acid	increases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases 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
jinfukang	decreases expression, affects cotreatment	1
(+)-JQ1 compound	increases expression	1
Sunitinib	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Atrazine	increases expression	1
Chenodeoxycholic Acid	affects cotreatment, increases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Coal	decreases expression, increases abundance	1
Deoxycholic Acid	affects cotreatment, increases expression	1
Glycochenodeoxycholic Acid	affects cotreatment, increases expression	1
Glycocholic Acid	affects cotreatment, increases expression	1
Glycodeoxycholic Acid	affects cotreatment, increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TF48	HAP1 PPM1L (-) 1	Cancer cell line	Male
CVCL_TF49	HAP1 PPM1L (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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