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PLPPR2

gene
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Also known as LPPR2PRG-4

Summary

PLPPR2 (phospholipid phosphatase related 2, HGNC:29566) is a protein-coding gene on chromosome 19p13.2, encoding Phospholipid phosphatase-related protein type 2 (Q96GM1).

Predicted to enable phosphatidate phosphatase activity. Predicted to be involved in phospholipid dephosphorylation; phospholipid metabolic process; and signal transduction. Predicted to be located in membrane. Predicted to be active in plasma membrane.

Source: NCBI Gene 64748 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

  • Clinical variants (ClinVar): 64 total
  • GTEx eGene: eQTL in 31 tissues, sQTL in 26 (q < 0.05)
  • Constraint (gnomAD): pLI 0.99 (loss-of-function intolerant), LOEUF 0.47 (moderately constrained)
  • MANE Select transcript: NM_001393892
  • Notable: 64 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:29566
Approved symbolPLPPR2
Namephospholipid phosphatase related 2
Location19p13.2
Locus typegene with protein product
StatusApproved
AliasesLPPR2, PRG-4
Ensembl geneENSG00000105520
Ensembl biotypeprotein_coding
OMIM619591
Entrez64748

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 11 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000688289

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 3, TSL 3: 2, TSL 4: 2

ENST00000688289, ENST00000251473, ENST00000586380, ENST00000586431, ENST00000587801, ENST00000588196, ENST00000588360, ENST00000591329, ENST00000591608, ENST00000970837, ENST00000970838, ENST00000975297, ENST00000975298, ENST00001113349, ENST00001139147

RefSeq mRNA: 7 — MANE Select: NM_001393892 NM_001170635, NM_001393892, NM_001393893, NM_001393894, NM_001393895, NM_001393896, NM_022737

CCDS: CCDS12258, CCDS59352, CCDS92519

Canonical transcript exons

ENST00000688289 — 10 exons

ExonStartEnd
ENSE000006805111135953211359720
ENSE000006805141135982111359956
ENSE000010612221135680211356976
ENSE000022097631136434711365698
ENSE000028349361136371311363835
ENSE000035099561136251311362689
ENSE000035504491135766011357739
ENSE000035866791136121711361488
ENSE000035928631136416111364212
ENSE000039353211135543211355572

Expression profiles

Bgee: expression breadth ubiquitous, 246 present calls, max score 96.43.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.4766 / max 348.9528, expressed in 1743 samples.

Highest expression (Bgee): cortical plate, adenohypophysis, amygdala, frontal lobe, nucleus accumbens.

Genetic regulation across tissues (GTEx eQTL / sQTL)

PLPPR2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 31 tissues and its splicing (sQTL) in 26 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 57 significant tissue × QTL associations:

TissueQTLq-valueSlopeLead variant
Muscle Skeletaleqtl2.3e-144-0.7619:11355475:T:C
Thyroideqtl1.6e-54-0.4519:11355475:T:C
Heart Atrial Appendageeqtl9.5e-53-0.5119:11355475:T:C
Heart Left Ventricleeqtl2.7e-44-0.4319:11355475:T:C
Nerve Tibialeqtl2.4e-41-0.3419:11355475:T:C
Whole Bloodeqtl1.1e-34+0.2119:11321225:G:A
Muscle Skeletalsqtl1.5e-31-1.7119:11358243:G:A
Testissqtl8.7e-29+0.8419:11354453:C:T
Brain Cerebellumsqtl8.0e-24-2.6819:11358243:G:A
Brain Cerebellar Hemispheresqtl2.7e-23-2.5519:11358243:G:A
Thyroidsqtl2.1e-22-0.4819:11355475:T:C
Brain Spinal cord cervical c-1eqtl4.2e-21-0.7119:11355475:T:C
Nerve Tibialsqtl4.6e-18-0.4419:11355475:T:C
Lungsqtl8.0e-16+0.4519:11348584:T:C
Brain Caudate basal gangliasqtl2.3e-14-1.6519:11358243:G:A
Colon Sigmoidsqtl2.4e-14+0.6819:11354640:G:C
Testiseqtl2.0e-13+0.3019:11354640:G:C
Esophagus Musculariseqtl8.4e-13-0.2519:11336355:A:C
Esophagus Muscularissqtl8.0e-12+0.4919:11355475:T:C
Pituitarysqtl3.8e-11+0.6519:11355475:T:C

FANTOM5 promoters

3 alternative TSS:

Promoter IDTPM avgSamples expressed
17391321.92971740
1739143.43401237
1739150.112935

Top tissues by expression

showing 100 of 278 tissues by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
cortical plateUBERON:000534396.43gold quality
adenohypophysisUBERON:000219696.26gold quality
amygdalaUBERON:000187695.98gold quality
right frontal lobeUBERON:000281095.98gold quality
nucleus accumbensUBERON:000188295.51gold quality
anterior cingulate cortexUBERON:000983595.51gold quality
pituitary glandUBERON:000000795.50gold quality
cingulate cortexUBERON:000302795.49gold quality
stromal cell of endometriumCL:000225595.36gold quality
Ammon’s hornUBERON:000195494.52gold quality
right hemisphere of cerebellumUBERON:001489094.28gold quality
hypothalamusUBERON:000189893.92gold quality
prefrontal cortexUBERON:000045193.77gold quality
lower esophagus muscularis layerUBERON:003583393.67gold quality
lower esophagusUBERON:001347393.65gold quality
frontal cortexUBERON:000187093.47gold quality
esophagogastric junction muscularis propriaUBERON:003584193.46gold quality
left uterine tubeUBERON:000130393.35gold quality
cerebellar hemisphereUBERON:000224593.32gold quality
temporal lobeUBERON:000187193.30gold quality
neocortexUBERON:000195093.30gold quality
cerebellar cortexUBERON:000212993.28gold quality
caudate nucleusUBERON:000187393.25gold quality
dorsolateral prefrontal cortexUBERON:000983493.03gold quality
forebrainUBERON:000189093.00gold quality
Brodmann (1909) area 9UBERON:001354092.98gold quality
cerebral cortexUBERON:000095692.89gold quality
CA1 field of hippocampusUBERON:000388192.82gold quality
telencephalonUBERON:000189392.80gold quality
putamenUBERON:000187492.49gold quality
mucosa of stomachUBERON:000119992.44gold quality
brainUBERON:000095592.40gold quality
cerebellumUBERON:000203792.35gold quality
postcentral gyrusUBERON:000258192.35gold quality
granulocyteCL:000009492.33gold quality
right ovaryUBERON:000211892.20gold quality
muscle layer of sigmoid colonUBERON:003580592.03gold quality
C1 segment of cervical spinal cordUBERON:000646991.95gold quality
endocervixUBERON:000045891.82gold quality
left adrenal gland cortexUBERON:003582591.74gold quality
parietal lobeUBERON:000187291.58gold quality
left ovaryUBERON:000211991.55gold quality
superior frontal gyrusUBERON:000266191.46gold quality
left adrenal glandUBERON:000123491.45gold quality
ascending aortaUBERON:000149691.44gold quality
thoracic aortaUBERON:000151591.43gold quality
right adrenal gland cortexUBERON:003582791.40gold quality
right coronary arteryUBERON:000162591.34gold quality
right adrenal glandUBERON:000123391.33gold quality
bloodUBERON:000017891.24gold quality
spinal cordUBERON:000224091.24gold quality
adrenal cortexUBERON:000123591.09gold quality
body of uterusUBERON:000985390.95gold quality
aortaUBERON:000094790.85gold quality
monocyteCL:000057690.82gold quality
entorhinal cortexUBERON:000272890.82gold quality
cerebellar vermisUBERON:000472090.80silver quality
leukocyteCL:000073890.78gold quality
mononuclear cellCL:000084290.74gold quality
right atrium auricular regionUBERON:000663190.54gold quality
apex of heartUBERON:000209890.53gold quality
ectocervixUBERON:001224990.52gold quality
popliteal arteryUBERON:000225090.51gold quality
tibial arteryUBERON:000761090.51gold quality
descending thoracic aortaUBERON:000234590.33gold quality
left coronary arteryUBERON:000162690.11gold quality
coronary arteryUBERON:000162189.89gold quality
type B pancreatic cellCL:000016989.88gold quality
cardiac atriumUBERON:000208189.81gold quality
olfactory bulbUBERON:000226489.51gold quality
tibial nerveUBERON:000132389.49gold quality
right uterine tubeUBERON:000130289.41gold quality
right lungUBERON:000216789.31gold quality
gastrocnemiusUBERON:000138889.22gold quality
adrenal glandUBERON:000236989.20gold quality
upper lobe of left lungUBERON:000895288.44gold quality
fundus of stomachUBERON:000116088.39gold quality
hindlimb stylopod muscleUBERON:000425288.33gold quality
substantia nigraUBERON:000203888.17gold quality
right lobe of thyroid glandUBERON:000111988.15gold quality
body of stomachUBERON:000116188.06gold quality
muscle of legUBERON:000138388.03gold quality
lower esophagus mucosaUBERON:003583488.02gold quality
midbrainUBERON:000189187.91gold quality
vena cavaUBERON:000408787.91silver quality
left lobe of thyroid glandUBERON:000112087.89gold quality
ganglionic eminenceUBERON:000402387.83gold quality
deciduaUBERON:000245087.78gold quality
esophagusUBERON:000104387.55gold quality
prostate glandUBERON:000236787.51gold quality
skin of legUBERON:000151187.43gold quality
Brodmann (1909) area 46UBERON:000648387.36gold quality
orbitofrontal cortexUBERON:000416787.32gold quality
upper lobe of lungUBERON:000894887.20gold quality
spleenUBERON:000210687.04gold quality
metanephros cortexUBERON:001053387.04gold quality
omental fat padUBERON:001041486.93gold quality
peritoneumUBERON:000235886.92gold quality
skin of abdomenUBERON:000141686.84gold quality
minor salivary glandUBERON:000183086.76gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-GEOD-93593yes15.28
E-ANND-3yes6.23

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cellAxisnTPMProtein (IHC)
Hippocampal formationtissue201.4
Hippocampustissue187.5high
Amygdalatissue111.9
Frontal cortextissue93.0
Cerebral cortextissue89.1high
Temporal cortextissue89.1
Prefrontal cortextissue88.6
Insular cortextissue84.5
Nucleus accumbenstissue80.0
Septumtissue79.9
Motor cortextissue79.6
Entorhinal cortextissue78.0
Locus coeruleustissue76.6
Hypothalamustissue75.8
Retrosplenial and cingulate cortextissue74.0
Retrosplenial cortextissue67.6
Somatosensory cortextissue67.0
Postcentral gyrustissue66.3
Ventral forebraintissue61.6
Occipital cortextissue57.9
Caudate putamentissue56.5
Basal gangliatissue56.1high
Pituitary glandtissue51.4
Ponstissue50.9
Thalamustissue48.7
Substantia nigratissue46.1
Olfactory bulbtissue46.1
Putamentissue42.2
Periaqueductal graytissue39.9
Midbraintissue38.9
Cerebellumtissue37.1medium
Superior colliculitissue34.2
Medulla oblongatatissue30.3
Choroid plexustissue29.0
Skeletal muscletissue24.3low
Spinal cordtissue22.9
Vaginatissue18.2medium
Prostatetissue16.4high
Corpus callosumtissue15.8
Skin 1tissue15.3medium
Smooth muscletissue15.3not detected
Adrenal glandtissue15.0high
Bone marrowtissue14.9medium
Ovarytissue13.6high
Seminal vesicletissue12.7low
Gallbladdertissue12.4high
Parathyroid glandtissue12.2medium
Salivary glandtissue12.0high
Cervixtissue11.7high
Pancreastissue11.6high
Endometrium 1tissue11.2high
Adipose tissuetissue10.7not detected
Placentatissue10.4high
Spleentissue10.3low
Heart muscletissue9.9not detected
Urinary bladdertissue9.8high
Appendixtissue9.8high
Retinatissue9.7
Lungtissue9.0low
Stomach 1tissue8.1high

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Hippocampus, CA3 (211.1), Hippocampus, CA1 (207.1), Dorsal hippocampus (201.4), Ventral hippocampus (182.4), Dentate gyrus (178.5).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting PLPPR2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 78 miRNAs:

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-6748-5P100.0065.811057
HSA-MIR-6870-5P99.9968.552115
HSA-MIR-4723-5P99.9768.702034
HSA-MIR-569899.9768.492029
HSA-MIR-7111-5P99.9768.482062
HSA-MIR-6825-5P99.9669.813431
HSA-MIR-96-5P99.9572.802140
HSA-MIR-185-3P99.9567.011743
HSA-MIR-6721-5P99.9368.922981
HSA-MIR-1213399.9271.822006
HSA-MIR-1271-5P99.9171.991972
HSA-MIR-4728-5P99.8569.394718
HSA-MIR-76599.8468.242442
HSA-MIR-6785-5P99.8268.684428
HSA-MIR-149-3P99.7268.223963
HSA-MIR-6752-3P99.7266.711587
HSA-MIR-6883-5P99.6968.053785
HSA-MIR-447099.6669.351767
HSA-MIR-1287-3P99.6366.93492
HSA-MIR-182799.6368.573265
HSA-MIR-715099.6266.801322
HSA-MIR-24-3P99.5969.971934
HSA-MIR-486-3P99.5166.821901
HSA-MIR-312899.5067.851258
HSA-MIR-1207-5P99.4969.112983
HSA-MIR-468899.4864.68828
HSA-MIR-6743-5P99.4863.60721
HSA-MIR-6722-3P99.4567.621919
HSA-MIR-183-5P99.3172.271164
HSA-MIR-5589-3P99.2968.301443

Functional genomics

gnomAD constraint: pLI 0.993, LOEUF 0.473, missense Z 1.86 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000688289 — one region, missense o/e 0.78.

Cross-species orthologs

13 orthologs

OrganismSymbolGene ID
danio_rerioplppr2bENSDARG00000044600
danio_rerioplppr2aENSDARG00000101478
mus_musculusPlppr2ENSMUSG00000040563
rattus_norvegicusPlppr2ENSRNOG00000012164
drosophila_melanogasterwunFBGN0016078
drosophila_melanogasterlazaFBGN0037163
drosophila_melanogasterCG11438FBGN0037164
drosophila_melanogasterCG11437FBGN0037165
drosophila_melanogasterCG11426FBGN0037166
drosophila_melanogasterCG11425FBGN0037167
drosophila_melanogasterCG12746FBGN0037341
drosophila_melanogasterwun2FBGN0041087
caenorhabditis_elegansWBGENE00018756

Paralogs (9): PLPP1 (ENSG00000067113), PLPPR5 (ENSG00000117598), PLPPR4 (ENSG00000117600), PLPPR3 (ENSG00000129951), PLPP2 (ENSG00000141934), PLPP5 (ENSG00000147535), PLPPR1 (ENSG00000148123), PLPP3 (ENSG00000162407), PLPP4 (ENSG00000203805)

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

OrganismUniProtIdentityMethod
Xenopus tropicalisA4II8388.6%Diamond
Xenopus laevisQ6GM0584.8%Diamond
Bos taurusQ29RT878.2%Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

SymbolTypeEntrez
CCDC159protein-coding126075
EPORprotein-coding2057
RGL3protein-coding57139
SWSAP1protein-coding126074
TSPAN16protein-coding26526
TMEM205protein-coding374882
RAB3Dprotein-coding9545
TSPAN16-AS1ncRNA105372274
ODAD3protein-coding115948
PRKCSHprotein-coding5589

Protein

Protein identifiers

Phospholipid phosphatase-related protein type 2 — Q96GM1 (reviewed: Q96GM1)

Alternative names: Inactive phospholipid phosphatase PLPPR2, Lipid phosphate phosphatase-related protein type 2, Plasticity-related gene 4 protein

All UniProt accessions (4): A0A8I5KWF3, K7EMX8, K7EQF7, Q96GM1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

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

Isoforms (2)

UniProt IDNamesCanonical?
Q96GM1-11yes
Q96GM1-22

RefSeq proteins (7): NP_001164106, NP_001380821, NP_001380822, NP_001380823, NP_001380824, NP_001380825, NP_073574 (=MANE)

Domains & families (InterPro)

IDNameType
IPR000326PAP2/HPODomain
IPR036938PAP2/HPO_sfHomologous_superfamily
IPR043216PAP-likeFamily

Pfam: PF01569

Enzyme classification (BRENDA)

  • EC 3.1.3.4 — phosphatidate phosphatase (BRENDA: 31 organisms, 190 substrates, 196 inhibitors, 44 Km, 3 kcat entries)

Substrate kinetics (BRENDA)

10 substrates with measured Km, best-characterized 10. Km ranges are aggregated across organisms/conditions.

SubstrateKm (mM)Measurements
PHOSPHATIDIC ACID0.0054–1.217
LYSOPHOSPHATIDATE0.046–0.1793
PHOSPHATIDATE0.284–0.3693
SPHINGOSINE-1-PHOSPHATE0.028–0.263
CERAMIDE-1-PHOSPHATE0.022–0.0522
DIACYLGLYCEROL DIPHOSPHATE0.041–0.1042
LYSOPHOSPHATIDIC ACID0.295–0.582
1,2-DIACYL-SN-GLYCEROL-3-PHOSPHATE0.59541
2-(4,4-DIFLUORO-5,7-DIMETHYL-4-BORA-3A,4A-DIAZA-0.0241
DIOCTANOYL PHOSPHATIDIC ACID1.41

UniProt features (17 total): transmembrane region 6, modified residue 2, splice variant 2, sequence conflict 2, chain 1, glycosylation site 1, sequence variant 1, region of interest 1, compositionally biased region 1

Structure

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q96GM1-F179.100.49

Human Protein Atlas

Protein class: Metabolic proteins, Predicted membrane proteins, Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm

Antibody reliability (HPA): IH approved · IF uncertain

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 (2)

TypePositions
Phosphoserine312, 299

Glycosylation sites (1)

TypePositions
N-linked (glcnac…) asparagine165

Function

Pathways and Gene Ontology

Reactome pathways

1 curated (TAS) of 5; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

5 pathways:

IDPathwayEvidence
R-HSA-419408Lysosphingolipid and LPA receptorscurated
R-HSA-373076Class A/1 (Rhodopsin-like receptors)—
R-HSA-500792GPCR ligand binding—
R-HSA-162582Signal Transduction—
R-HSA-372790Signaling by GPCR—

MSigDB gene sets: 123 (showing top): GOBP_LIPID_MODIFICATION, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHOLIPID_DEPHOSPHORYLATION, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, TGACCTY_ERR1_Q2, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A5, GOBP_LIPID_METABOLIC_PROCESS, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, HFH1_01, GOBP_DEPHOSPHORYLATION, DOUGLAS_BMI1_TARGETS_UP, OCT1_B, SAGIV_CD24_TARGETS_DN, LEIN_LOCALIZED_TO_PROXIMAL_DENDRITES, CTGAGCC_MIR24

GO Biological Process (3): phospholipid metabolic process (GO:0006644), signal transduction (GO:0007165), phospholipid dephosphorylation (GO:0046839)

GO Molecular Function (2): phosphatidate phosphatase activity (GO:0008195), protein binding (GO:0005515)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

4 top-level categories:

CategoryPathways
Class A/1 (Rhodopsin-like receptors)1
Signal Transduction1
GPCR ligand binding1
Signaling by GPCR1

GO top-level categories

14 GO namespaces:

CategoryTerms
lipid metabolic process1
organophosphate metabolic process1
cell communication1
cellular process1
signaling1
regulation of cellular process1
cellular response to stimulus1
dephosphorylation1
lipid modification1
lipid phosphatase activity1
binding1
membrane1
cell periphery1
cellular anatomical structure1

Protein interactions and networks

STRING

showing 15 of 846 interactions by confidence (×1000):

Protein AProtein BPartner UniProtScore
PLPPR2DGAT2L6Q6ZPD8426
PLPPR2PLPP6Q8IY26399
PLPPR2SWSAP1Q6NVH7385
PLPPR2ORMDL2Q53FV1384
PLPPR2MBOAT2Q6ZWT7383
PLPPR2CCDC159P0C7I6379
PLPPR2INPP5AQ14642369
PLPPR2CHKBQ9Y259352
PLPPR2TMEM51Q9NW97350
PLPPR2E5RHQ9E5RHQ9346
PLPPR2DOLPP1Q86YN1343
PLPPR2SPTSSBQ8NFR3332
PLPPR2PLCD4Q9BRC7330
PLPPR2GSG1LQ6UXU4330
PLPPR2GPAT2Q6NUI2326

IntAct

Human interaction partners of PLPPR2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

24 partners by confidence:

PartnerInteraction typeMIscoreRecords
ARL13Bphysical association0.5603
CD79Aphysical association0.5603
CIAO2Aphysical association0.5603
CISD2physical association0.5603
CLDN5physical association0.5603
CLDN9physical association0.5603
CREB3L1physical association0.5603
GYPCphysical association0.5603
KIR2DL3physical association0.5603
LYPD5physical association0.5603
MARCHF2physical association0.5603
SCN3Bphysical association0.5603
SIGLEC12physical association0.5603
SLC19A3physical association0.5603
SMAGPphysical association0.5603
SSMEM1physical association0.5603
STX12physical association0.5603
TMED9physical association0.5603
TMEM237physical association0.5603
UBE2J1physical association0.5603
VSIRphysical association0.5603
METAP2association0.5302
BCL2L1association0.3501
SEC24Dassociation0.3501

Disease & clinical

Genetic variants

Variant evidence for PLPPR2: 64 ClinVar records (0 pathogenic / likely pathogenic).

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance51
Likely benign6
Benign0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 28 predictions of 1,119):

Position(s)EffectΔscoreSites
19:11359505acceptor_gain1.0000
19:11359519acceptor_gain1.0000
19:11359721–11359722donor_loss1.00005
19:11362690–11362691donor_loss1.00005
19:11363711–11363712acceptor_loss1.00006
19:11363821donor_gain1.0000
19:11355573–11355574donor_loss0.99006
19:11359500acceptor_gain0.9900
19:11359513acceptor_gain0.9900
19:11359518acceptor_gain0.9900

AlphaMissense

800 missense substitutions predicted likely pathogenic (of 2,845 scored), across 210 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

ResidueLikely-pathogenic substitutionsMean am_pathogenicityMax am_pathogenicity
F15880.9740.999
F20580.9740.996
D26580.9720.993
F28880.9640.995
F13580.9340.989
F4980.9270.995
F14380.9210.975
F27980.9120.989
F4280.9020.985
F1880.8410.957
D5380.7990.959
H26280.7770.883
C16270.9910.996
C5170.9870.995
C19170.9680.985
F12970.9520.989
F18470.9480.985
C17170.9470.976
E9070.9220.966
F27070.9150.969

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

1 prognostic cancer types:

CancerPrognosticp-value
Kidney Chromophobe (TCGA)unfavorable2.92e-06

Disease associations

OMIM: gene MIM:619591 | disease phenotypes:

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
sodium arsenitedecreases expression, affects cotreatment, increases abundance, increases expression3
bisphenol Aaffects cotreatment, increases methylation, increases expression2
Arsenicincreases abundance, increases expression, decreases expression, affects cotreatment2
Valproic Acidincreases expression, increases methylation2
aristolochic acid Iincreases expression1
bisphenol Faffects cotreatment, increases expression1
triphenyl phosphateaffects expression1
o,p’-DDTincreases expression1
manganese chlorideaffects cotreatment, increases abundance, increases expression1
benzo(e)pyreneincreases methylation1
aflatoxin B2increases methylation1
di-n-butylphosphoric acidaffects expression1
(+)-JQ1 compoundincreases expression1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic aciddecreases expression1
Resveratrolincreases expression1
Sunitinibdecreases expression1
Fulvestrantaffects cotreatment, increases methylation1
Acetaminophenincreases expression1
Air Pollutantsaffects expression, increases abundance1
Atrazineincreases expression1
Dexamethasoneaffects cotreatment, increases expression1
Diazinonincreases methylation1
Doxorubicindecreases expression1
Indomethacinaffects cotreatment, increases expression1
Manganeseaffects cotreatment, increases abundance, increases expression1
Methapyrileneincreases methylation1
Ozoneaffects expression, increases abundance1
Smokedecreases expression1
Tobacco Smoke Pollutiondecreases expression1
Urethaneincreases expression1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.