PLPP2

Summary

PLPP2 (phospholipid phosphatase 2, HGNC:9230) is a protein-coding gene on chromosome 19p13.3, encoding Phospholipid phosphatase 2 (O43688). Magnesium-independent phospholipid phosphatase that catalyzes the dephosphorylation of a variety of glycerolipid and sphingolipid phosphate esters including phosphatidate/PA, lysophosphatidate/LPA, sphingosine 1-phosphate/S1P and ceramide 1-phosphate/C1P.

The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is similar to phosphatidic acid phosphatase type 2A (PPAP2A) and type 2B (PPAP2B). All three proteins contain 6 transmembrane regions, and a consensus N-glycosylation site. This protein has been shown to possess membrane associated PAP activity. Three alternatively spliced transcript variants encoding distinct isoforms have been reported.

Source: NCBI Gene 8612 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 67 total
• MANE Select transcript: NM_003712

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9230
Approved symbol	PLPP2
Name	phospholipid phosphatase 2
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	PAP-2c, LPP2
Ensembl gene	ENSG00000141934
Ensembl biotype	protein_coding
OMIM	607126
Entrez	8612

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 9 protein_coding, 2 retained_intron

ENST00000269812, ENST00000327790, ENST00000434325, ENST00000586998, ENST00000589672, ENST00000591572, ENST00000621795, ENST00000633125, ENST00000940093, ENST00000940094, ENST00000951587

RefSeq mRNA: 3 — MANE Select: NM_003712 NM_003712, NM_177526, NM_177543

CCDS: CCDS12023, CCDS12024, CCDS45889

Canonical transcript exons

ENST00000434325 — 6 exons

Exon	Start	End
ENSE00000951309	282752	282809
ENSE00000951310	282134	282310
ENSE00001234447	291285	291403
ENSE00002880410	281043	281537
ENSE00003576717	288020	288171
ENSE00003593867	287474	287751

Expression profiles

Bgee: expression breadth ubiquitous, 211 present calls, max score 97.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.3743 / max 72.3657, expressed in 1057 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
177876	5.1999	1050
177874	0.1743	94

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
olfactory segment of nasal mucosa	UBERON:0005386	97.86	gold quality
right uterine tube	UBERON:0001302	97.61	gold quality
mucosa of transverse colon	UBERON:0004991	97.23	gold quality
minor salivary gland	UBERON:0001830	96.12	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	95.98	gold quality
gall bladder	UBERON:0002110	95.79	gold quality
epithelium of bronchus	UBERON:0002031	93.49	gold quality
skin of abdomen	UBERON:0001416	93.41	gold quality
saliva-secreting gland	UBERON:0001044	93.28	gold quality
bronchus	UBERON:0002185	92.82	gold quality
spinal cord	UBERON:0002240	92.80	gold quality
bronchial epithelial cell	CL:0002328	92.63	gold quality
skin of leg	UBERON:0001511	92.58	gold quality
mouth mucosa	UBERON:0003729	91.76	gold quality
endometrium epithelium	UBERON:0004811	91.68	gold quality
middle frontal gyrus	UBERON:0002702	91.53	gold quality
rectum	UBERON:0001052	91.37	gold quality
ileal mucosa	UBERON:0000331	90.83	gold quality
zone of skin	UBERON:0000014	90.19	gold quality
duodenum	UBERON:0002114	90.04	gold quality
body of pancreas	UBERON:0001150	90.01	gold quality
stromal cell of endometrium	CL:0002255	89.90	gold quality
transverse colon	UBERON:0001157	89.59	gold quality
nasal cavity mucosa	UBERON:0001826	88.79	gold quality
body of stomach	UBERON:0001161	88.60	gold quality
small intestine Peyer’s patch	UBERON:0003454	88.54	gold quality
palpebral conjunctiva	UBERON:0001812	88.46	gold quality
nasal cavity epithelium	UBERON:0005384	88.26	gold quality
esophagus mucosa	UBERON:0002469	87.18	gold quality
small intestine	UBERON:0002108	87.04	gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-GEOD-130473	yes	576.22
E-MTAB-10287	yes	51.23
E-MTAB-8410	yes	47.18
E-MTAB-5061	yes	28.88
E-HCAD-1	yes	25.47
E-GEOD-81547	yes	23.32
E-MTAB-10553	yes	22.41
E-MTAB-9388	yes	11.67
E-HCAD-9	yes	10.54
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

11 targeting PLPP2, 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-548D-3P	99.87	70.67	4362
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-323A-3P	99.79	70.30	1739
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-497-3P	99.61	69.71	1990
HSA-MIR-758-3P	98.42	68.60	1122
HSA-MIR-3179	98.22	65.90	1445

Literature-anchored findings (GeneRIF, showing 6)

• Functional study of the mouse homolog (PMID:10992322)
• identified a novel and specific role for LPP2 activity and bioactive lipids in regulating cell cycle progression (PMID:16467304)
• endogenous LPP2 and LPP3 form homo- and hetero-oligomers, which differ in their subcellular localization and which may confer differing spatial regulation of phosphatidic acid and sphingosine 1-phosphate signalling (PMID:18215144)
• Lipid phosphate phosphatase-2 promotes tumor growth through increased c-Myc expression. (PMID:35966578)
• PLPP2: Potential therapeutic target of breast cancer in PLPP family. (PMID:36332491)
• Transcriptomic landscape based on annotated clinical features reveals PLPP2 involvement in lipid raft-mediated proliferation signature of early-stage lung adenocarcinoma. (PMID:37996944)

Cross-species orthologs

13 orthologs

Organism	Symbol	Gene ID
danio_rerio	plpp2a	ENSDARG00000002231
danio_rerio	plpp2b	ENSDARG00000028896
mus_musculus	Plpp2	ENSMUSG00000052151
rattus_norvegicus	Plpp2	ENSRNOG00000000177
drosophila_melanogaster	wun	FBGN0016078
drosophila_melanogaster	laza	FBGN0037163
drosophila_melanogaster	CG11438	FBGN0037164
drosophila_melanogaster	CG11437	FBGN0037165
drosophila_melanogaster	CG11426	FBGN0037166
drosophila_melanogaster	CG11425	FBGN0037167
drosophila_melanogaster	CG12746	FBGN0037341
drosophila_melanogaster	wun2	FBGN0041087
caenorhabditis_elegans		WBGENE00018756

Paralogs (9): PLPP1 (ENSG00000067113), PLPPR2 (ENSG00000105520), PLPPR5 (ENSG00000117598), PLPPR4 (ENSG00000117600), PLPPR3 (ENSG00000129951), PLPP5 (ENSG00000147535), PLPPR1 (ENSG00000148123), PLPP3 (ENSG00000162407), PLPP4 (ENSG00000203805)

Protein

Protein identifiers

Phospholipid phosphatase 2 — O43688 (reviewed: O43688)

Alternative names: Lipid phosphate phosphohydrolase 2, PAP2-gamma, Phosphatidate phosphohydrolase type 2c, Phosphatidic acid phosphatase 2c

All UniProt accessions (4): A0A0J9YXA3, O43688, K7EMK9, K7ENH4

UniProt curated annotations — full annotation on UniProt →

Function. Magnesium-independent phospholipid phosphatase that catalyzes the dephosphorylation of a variety of glycerolipid and sphingolipid phosphate esters including phosphatidate/PA, lysophosphatidate/LPA, sphingosine 1-phosphate/S1P and ceramide 1-phosphate/C1P. Has no apparent extracellular phosphatase activity and therefore most probably acts intracellularly. Also acts on N-oleoyl ethanolamine phosphate/N-(9Z-octadecenoyl)-ethanolamine phosphate, a potential physiological compound. Through dephosphorylation of these bioactive lipid mediators produces new bioactive compounds and may regulate signal transduction in different cellular processes. Indirectly regulates, for instance, cell cycle G1/S phase transition through its phospholipid phosphatase activity.

Subunit / interactions. Forms functional homodimers and homooligomers. Can also form heterooligomers with PLPP1 and PLPP3.

Subcellular location. Membrane. Cell membrane. Early endosome membrane. Endoplasmic reticulum membrane.

Tissue specificity. Found mainly in brain, pancreas and placenta.

Post-translational modifications. N-glycosylated.

Activity regulation. Magnesium-independent phospholipid phosphatase. Insensitive to N-ethylmaleimide. Inhibited by sphingosine, zinc ions and modestly by propanolol.

Pathway. Lipid metabolism; phospholipid metabolism.

Similarity. Belongs to the PA-phosphatase related phosphoesterase family.

Isoforms (3)

UniProt ID	Names	Canonical?
O43688-1	1	yes
O43688-2	2
O43688-3	3

RefSeq proteins (3): NP_003703, NP_803545, NP_808211 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000326	PAP2/HPO	Domain
IPR036938	PAP2/HPO_sf	Homologous_superfamily
IPR043216	PAP-like	Family

Pfam: PF01569

Catalyzed reactions (Rhea), 9 shown:

• a 1,2-diacyl-sn-glycero-3-phosphate + H2O = a 1,2-diacyl-sn-glycerol + phosphate (RHEA:27429)
• sphing-4-enine 1-phosphate + H2O = sphing-4-enine + phosphate (RHEA:27518)
• an N-acylsphing-4-enine 1-phosphate + H2O = an N-acylsphing-4-enine + phosphate (RHEA:33743)
• 1,2-dihexadecanoyl-sn-glycero-3-phosphate + H2O = 1,2-dihexadecanoyl-sn-glycerol + phosphate (RHEA:43236)
• 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphate + H2O = 1,2-di-(9Z-octadecenoyl)-sn-glycerol + phosphate (RHEA:43244)
• a monoacyl-sn-glycero-3-phosphate + H2O = a monoacylglycerol + phosphate (RHEA:46736)
• (9Z)-octadecenoyl-sn-glycero-3-phosphate + H2O = (9Z-octadecenoyl)-glycerol + phosphate (RHEA:50884)
• N-(octanoyl)-sphing-4-enine-1-phosphate + H2O = N-octanoylsphing-4-enine + phosphate (RHEA:62040)
• N-(9Z-octadecenoyl)-ethanolamine phosphate + H2O = N-(9Z-octadecenoyl) ethanolamine + phosphate (RHEA:62160)

UniProt features (25 total): topological domain 7, transmembrane region 6, region of interest 3, active site 2, splice variant 2, chain 1, site 1, glycosylation site 1, sequence variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
21NW	ELECTRON MICROSCOPY	2.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43688-F1	85.43	0.69

Functional residue map

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

Catalytic / active sites (3): 168 (proton donors); 220 (nucleophile); 224 (stabilizes the active site histidine for nucleophilic attack)

Glycosylation sites (1): 139

Mutagenesis-validated functional residues (1):

Position	Phenotype
214	loss of lipid phosphatase activity.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9845614	Sphingolipid catabolism

MSigDB gene sets: 187 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GOBP_LIPID_MODIFICATION, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, ENK_UV_RESPONSE_KERATINOCYTE_UP, MODULE_64, GOBP_PHOSPHOLIPID_DEPHOSPHORYLATION, GOBP_POLYOL_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, MCBRYAN_PUBERTAL_TGFB1_TARGETS_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_MEMBRANE_LIPID_CATABOLIC_PROCESS, WEI_MYCN_TARGETS_WITH_E_BOX, MUELLER_PLURINET, GOBP_SPHINGOID_METABOLIC_PROCESS

GO Biological Process (7): phospholipid metabolic process (GO:0006644), sphingosine metabolic process (GO:0006670), ceramide metabolic process (GO:0006672), signal transduction (GO:0007165), sphingolipid catabolic process (GO:0030149), phospholipid dephosphorylation (GO:0046839), lipid metabolic process (GO:0006629)

GO Molecular Function (5): phosphatidate phosphatase activity (GO:0008195), sphingosine-1-phosphate phosphatase activity (GO:0042392), ceramide-1-phosphate phosphatase activity (GO:0106235), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (8): early endosome (GO:0005769), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), caveola (GO:0005901), membrane (GO:0016020), early endosome membrane (GO:0031901), endosome (GO:0005768)

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
lipid phosphatase activity	3
sphingolipid metabolic process	2
endomembrane system	2
lipid metabolic process	1
organophosphate metabolic process	1
diol metabolic process	1
sphingoid metabolic process	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
lipid catabolic process	1
dephosphorylation	1
lipid modification	1
primary metabolic process	1
binding	1
catalytic activity	1
endosome	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1
plasma membrane raft	1
cellular anatomical structure	1
early endosome	1
endosome membrane	1
cytoplasmic vesicle	1

Protein interactions and networks

STRING

1162 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PLPP2	LPIN1	Q14693	856
PLPP2	GPLD1	P80108	761
PLPP2	LPIN2	Q92539	752
PLPP2	DGAT1	O75907	744
PLPP2	DGAT2	Q96PD7	663
PLPP2	LPIN3	Q9BQK8	661
PLPP2	SGPP2	Q8IWX5	657
PLPP2	MBOAT2	Q6ZWT7	612
PLPP2	AGPAT2	O15120	583
PLPP2	CDIPT	O14735	534
PLPP2	CHPT1	Q8WUD6	531
PLPP2	PNPLA2	Q96AD5	529
PLPP2	AGPAT1	Q99943	518
PLPP2	CIDEC	Q96AQ7	494
PLPP2	CDS2	O95674	492

IntAct

32 interactions, top by confidence:

A	B	Type	Score
PLPP2	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.560
NOTCH2NLA	PLPP2	psi-mi:“MI:0915”(physical association)	0.560
HNF4A	PLPP2	psi-mi:“MI:0915”(physical association)	0.560
PLPP2	VSTM1	psi-mi:“MI:0915”(physical association)	0.560
PLPP2	JAGN1	psi-mi:“MI:0915”(physical association)	0.560
PLPP2	TRAM1L1	psi-mi:“MI:0915”(physical association)	0.560
PLPP2	NSG1	psi-mi:“MI:0915”(physical association)	0.560
LGALS3	PODXL	psi-mi:“MI:0914”(association)	0.530
PLPP2	MLH1	psi-mi:“MI:0915”(physical association)	0.370
MRPL44	PLPP2	psi-mi:“MI:0915”(physical association)	0.370
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
	NPC1	psi-mi:“MI:0914”(association)	0.350
PCDHA8	TMEM131L	psi-mi:“MI:0914”(association)	0.350
LGALS9	LGALS8	psi-mi:“MI:0914”(association)	0.350
PLPP2	PLPP1	psi-mi:“MI:0914”(association)	0.350
MTUS2	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
IGDCC4	PLPP2	psi-mi:“MI:0914”(association)	0.350
SLC34A2	SNAP23	psi-mi:“MI:0914”(association)	0.350
VSTM1	PLPP2	psi-mi:“MI:0915”(physical association)	0.000
JAGN1	PLPP2	psi-mi:“MI:0915”(physical association)	0.000
TRAM1L1	PLPP2	psi-mi:“MI:0915”(physical association)	0.000
NSG1	PLPP2	psi-mi:“MI:0915”(physical association)	0.000
PLPP2	BAG6	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (30): NOTCH2NL (Two-hybrid), RABEPK (Affinity Capture-MS), PPAP2C (Affinity Capture-Western), PPAP2B (Affinity Capture-Western), PPAP2C (Affinity Capture-Western), PPAP2C (Affinity Capture-Western), PPAP2A (Affinity Capture-Western), PPAP2C (Two-hybrid), PPAP2C (Affinity Capture-RNA), BAG6 (Two-hybrid), UNC119 (Two-hybrid), NSG1 (Two-hybrid), JAGN1 (Two-hybrid), TRAM1L1 (Two-hybrid), VSTM1 (Two-hybrid)

ESM2 similar proteins: A1A5C7, A6H7A0, B0BMW8, B0CM95, B0KWE9, B1MTH4, B2KI79, O43688, O62772, O75147, P0CK96, P35438, P35439, P52875, P57791, Q05586, Q28D01, Q2KJ29, Q3KNV8, Q3SZQ2, Q3UHH2, Q4L208, Q4V899, Q5R1P0, Q5R890, Q5SP67, Q5ZJ75, Q7TPB4, Q86YN1, Q8BTQ0, Q8C6G8, Q8C811, Q8R4D1, Q8VDI9, Q8VE98, Q90812, Q9BWV1, Q9D9E0, Q9H6U8, Q9H7D7

Diamond homologs: O08564, O14494, O14495, O43688, O88956, P60588, P97544, Q04396, Q0VBU9, Q0WNG6, Q10022, Q2HJ61, Q3SZE3, Q3UMZ3, Q5VZY2, Q61469, Q6GQ62, Q6IQH6, Q86AF0, Q8K593, Q8LFD1, Q8NEB5, Q99JY8, Q9DAX2, Q9V576, Q9XI60, B0CM95, B0KWE9, B1MTH4, Q86YN1, Q9ZU49, Q29RT8, Q54PR7, Q6GM05, Q6WAY2, Q7Z2D5, Q8BFZ2, Q8TBJ4, B2KI79, Q32ZL2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1175 predictions. Top by Δscore:

Variant	Effect	Δscore
19:282132:A:AC	donor_gain	1.0000
19:282133:C:CC	donor_gain	1.0000
19:282306:TACAG:T	acceptor_gain	1.0000
19:282307:ACAG:A	acceptor_gain	1.0000
19:282308:CAG:C	acceptor_gain	1.0000
19:282308:CAGC:C	acceptor_gain	1.0000
19:282748:T:TA	donor_loss	1.0000
19:282749:CA:C	donor_loss	1.0000
19:282750:A:AC	donor_gain	1.0000
19:282750:ACCG:A	donor_gain	1.0000
19:282751:C:A	donor_loss	1.0000
19:282751:C:CC	donor_gain	1.0000
19:282751:CCG:C	donor_gain	1.0000
19:282751:CCGC:C	donor_gain	1.0000
19:282806:CAAC:C	acceptor_gain	1.0000
19:282810:C:CA	acceptor_loss	1.0000
19:282811:T:G	acceptor_loss	1.0000
19:288018:A:AC	donor_gain	1.0000
19:288019:C:CC	donor_gain	1.0000
19:288167:GGAGG:G	acceptor_gain	1.0000
19:288168:GAGG:G	acceptor_gain	1.0000
19:288170:GGCTG:G	acceptor_loss	1.0000
19:288171:GC:G	acceptor_loss	1.0000
19:288172:C:CC	acceptor_gain	1.0000
19:281538:CT:C	acceptor_loss	0.9900
19:281539:T:C	acceptor_loss	0.9900
19:282145:C:CT	donor_gain	0.9900
19:282156:C:CA	donor_gain	0.9900
19:282311:C:CC	acceptor_gain	0.9900
19:282745:GACT:G	donor_loss	0.9900

AlphaMissense

1827 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:287585:C:A	R124M	0.999
19:282157:C:A	G232W	0.998
19:282800:G:C	F164L	0.998
19:282800:G:T	F164L	0.998
19:282802:A:G	F164L	0.998
19:287582:G:T	P125H	0.998
19:287594:C:T	G121E	0.998
19:287605:C:A	K117N	0.998
19:287605:C:G	K117N	0.998
19:287629:G:C	S109R	0.998
19:287629:G:T	S109R	0.998
19:287631:T:G	S109R	0.998
19:282157:C:G	G232R	0.997
19:282157:C:T	G232R	0.997
19:282193:G:C	H220D	0.997
19:282804:G:A	S163F	0.997
19:287564:C:T	C131Y	0.997
19:287575:G:C	F127L	0.997
19:287575:G:T	F127L	0.997
19:287576:A:G	F127S	0.997
19:287577:A:G	F127L	0.997
19:287585:C:G	R124T	0.997
19:282156:C:T	G232E	0.996
19:282169:C:G	G228R	0.996
19:282180:T:A	D224V	0.996
19:282191:G:C	H220Q	0.996
19:282191:G:T	H220Q	0.996
19:282220:C:G	G211R	0.996
19:287563:G:C	C131W	0.996
19:287565:A:G	C131R	0.996

dbSNP variants (sampled 300 via entrez): RS1000120185 (19:286799 CA>C,CAA), RS1000200129 (19:281795 G>A), RS1000251000 (19:281547 C>A,T), RS1000513344 (19:286959 C>CA), RS1000526432 (19:292382 C>T), RS1000532815 (19:282948 T>C), RS1001040093 (19:282123 T>C,G), RS1001152330 (19:282563 C>T), RS1001186568 (19:282187 A>C,G), RS1001605872 (19:292838 G>A), RS1001861937 (19:291028 A>G), RS1001939154 (19:291225 G>A,C,T), RS1001957805 (19:291009 C>A,G,T), RS1002278169 (19:290377 C>G,T), RS1002450487 (19:285577 C>T)

Disease associations

OMIM: gene MIM:607126 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010002_145	Refractive error	1.000000e-11

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Lipid phosphate phosphatases

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases methylation, affects cotreatment, increases expression	6
bisphenol A	decreases expression, increases expression	3
trichostatin A	affects cotreatment, increases expression	3
sodium arsenite	decreases expression, increases expression	2
entinostat	increases expression, affects cotreatment	2
(+)-JQ1 compound	decreases expression	2
Resveratrol	affects cotreatment, decreases expression	2
FR900359	increases phosphorylation	1
methylmercuric chloride	increases expression	1
arsenite	increases methylation	1
cobaltous chloride	decreases expression	1
benzo(e)pyrene	increases methylation	1
ferrous chloride	increases expression	1
perfluorooctane sulfonic 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	increases expression	1
theaflavin-3,3’-digallate	affects expression	1
Decitabine	increases expression	1
Arsenic Trioxide	decreases response to substance	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation, affects methylation, decreases methylation	1
Calcitriol	increases expression	1
Carbamazepine	affects expression	1
Cocaine	decreases expression	1
Coumestrol	affects cotreatment, decreases expression	1
Estradiol	decreases expression	1
Methapyrilene	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Polychlorinated Biphenyls	decreases expression	1

Clinical trials (associated diseases)

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