PLP2
gene geneOn this page
Also known as A4A4-LSBMGC126187
Summary
PLP2 (proteolipid protein 2, HGNC:9087) is a protein-coding gene on chromosome Xp11.23, encoding Proteolipid protein 2 (Q04941). May play a role in cell differentiation in the intestinal epithelium.
This gene encodes an integral membrane protein that localizes to the endoplasmic reticulum in colonic epithelial cells. The encoded protein can multimerize and may function as an ion channel. A polymorphism in the promoter of this gene may be linked to an increased risk of X-linked cognitive disability. A pseudogene of this gene is found on chromosome 5.
Source: NCBI Gene 5355 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 46 total
- Druggable target: yes
- MANE Select transcript:
NM_002668
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9087 |
| Approved symbol | PLP2 |
| Name | proteolipid protein 2 |
| Location | Xp11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | A4, A4-LSB, MGC126187 |
| Ensembl gene | ENSG00000102007 |
| Ensembl biotype | protein_coding |
| OMIM | 300112 |
| Entrez | 5355 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000376322, ENST00000376327, ENST00000879549, ENST00000935268
RefSeq mRNA: 1 — MANE Select: NM_002668
NM_002668
CCDS: CCDS14319
Canonical transcript exons
ENST00000376327 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000670265 | 49174335 | 49174425 |
| ENSE00000670267 | 49173388 | 49173483 |
| ENSE00000670269 | 49173129 | 49173281 |
| ENSE00001470203 | 49174672 | 49175235 |
| ENSE00003851018 | 49171898 | 49172096 |
Expression profiles
Bgee: expression breadth ubiquitous, 267 present calls, max score 99.43.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 190.9998 / max 3605.2796, expressed in 1788 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 196320 | 114.5359 | 1777 |
| 196319 | 39.8478 | 1717 |
| 196321 | 36.6161 | 1681 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gingival epithelium | UBERON:0001949 | 99.43 | gold quality |
| gingiva | UBERON:0001828 | 99.35 | gold quality |
| skin of abdomen | UBERON:0001416 | 99.24 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 99.20 | gold quality |
| esophagus mucosa | UBERON:0002469 | 99.17 | gold quality |
| skin of leg | UBERON:0001511 | 99.16 | gold quality |
| right coronary artery | UBERON:0001625 | 99.13 | gold quality |
| thoracic aorta | UBERON:0001515 | 99.10 | gold quality |
| ascending aorta | UBERON:0001496 | 99.09 | gold quality |
| zone of skin | UBERON:0000014 | 99.08 | gold quality |
| aorta | UBERON:0000947 | 99.05 | gold quality |
| nipple | UBERON:0002030 | 99.05 | gold quality |
| popliteal artery | UBERON:0002250 | 99.04 | gold quality |
| tibial artery | UBERON:0007610 | 99.04 | gold quality |
| upper leg skin | UBERON:0004262 | 99.03 | gold quality |
| body of pancreas | UBERON:0001150 | 99.00 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 98.98 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.97 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 98.96 | gold quality |
| penis | UBERON:0000989 | 98.95 | gold quality |
| vagina | UBERON:0000996 | 98.92 | gold quality |
| mammalian vulva | UBERON:0000997 | 98.92 | gold quality |
| esophagus | UBERON:0001043 | 98.91 | gold quality |
| skin of hip | UBERON:0001554 | 98.88 | gold quality |
| left coronary artery | UBERON:0001626 | 98.87 | gold quality |
| mucosa of stomach | UBERON:0001199 | 98.80 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.78 | gold quality |
| monocyte | CL:0000576 | 98.76 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.76 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.72 | gold quality |
Single-cell (SCXA)
Detected in 23 experiment(s), a significant marker in 19.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7407 | yes | 589.97 |
| E-CURD-112 | yes | 465.65 |
| E-MTAB-6701 | yes | 89.92 |
| E-CURD-114 | yes | 72.29 |
| E-HCAD-4 | yes | 67.75 |
| E-HCAD-6 | yes | 62.05 |
| E-GEOD-125970 | yes | 24.91 |
| E-MTAB-10042 | yes | 16.56 |
| E-MTAB-9467 | yes | 16.38 |
| E-HCAD-10 | yes | 15.30 |
| E-MTAB-9067 | yes | 15.21 |
| E-MTAB-8498 | yes | 13.38 |
| E-CURD-122 | yes | 13.32 |
| E-CURD-46 | yes | 10.15 |
| E-GEOD-135922 | yes | 9.98 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
38 targeting PLP2, 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-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-2681-5P | 99.75 | 67.64 | 1655 |
| HSA-MIR-6892-3P | 99.68 | 66.40 | 1178 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-7-5P | 99.67 | 70.53 | 1809 |
| HSA-MIR-4527 | 99.66 | 67.43 | 714 |
| HSA-MIR-7150 | 99.62 | 66.80 | 1322 |
| HSA-MIR-6503-5P | 99.62 | 66.96 | 597 |
| HSA-MIR-6716-5P | 99.56 | 68.62 | 1244 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-642A-5P | 99.51 | 65.10 | 1152 |
| HSA-MIR-3678-3P | 99.31 | 67.10 | 1432 |
| HSA-MIR-1273H-3P | 99.29 | 67.55 | 980 |
| HSA-MIR-3692-5P | 99.29 | 67.04 | 1421 |
| HSA-MIR-5582-5P | 99.27 | 71.42 | 1879 |
| HSA-MIR-664A-3P | 99.22 | 71.08 | 2696 |
| HSA-MIR-4777-3P | 99.15 | 68.92 | 626 |
| HSA-MIR-6768-3P | 99.14 | 67.38 | 1319 |
| HSA-MIR-4651 | 99.06 | 67.57 | 2002 |
| HSA-MIR-3164 | 99.02 | 68.39 | 1071 |
| HSA-MIR-6820-3P | 99.02 | 68.50 | 1035 |
| HSA-MIR-1843 | 98.97 | 66.07 | 838 |
Literature-anchored findings (GeneRIF, showing 16)
- PLP2/A4 has a role in the chemotactic processes via CCR1 (PMID:15474493)
- PLP2 is expressed abundantly in the pyramidal cells of hippocampus and granular cells of the cerebellum in the brains of a cohort of males with probable X-linked mental retardation. (PMID:17416750)
- This work ascribes a critical function to PLP2 for viral ligase activity and underlines the power of non-lethal haploid genetic screens in human cells to identify the genes involved in pathogen manipulation of the host immune system. (PMID:24278019)
- PLP2 and RAB5C are binding partners of TPD52. (PMID:24604726)
- PLP2 specifically binds to phosphatidylinositol 3 kinase to activate the protein kinase B pathway to enhance cell proliferation, adhesion, and invasion in melanoma cells. (PMID:26287415)
- Up-regulation of miR-422a attenuated microsphere formation, proliferation and tumor formation of breast cancer stem cells via suppressing the PLP2 expression. (PMID:29509055)
- Higher PLP2 immunohistochemistry staining significantly correlated with more advanced tumor grades and poorer prognosis in human gliomas. (PMID:30373180)
- Reduced expression of proteolipid protein 2 increases ER stress-induced apoptosis and autophagy in glioblastoma. (PMID:31778016)
- MiR-765 functions as a tumour suppressor and eliminates lipids in clear cell renal cell carcinoma by downregulating PLP2. (PMID:31901870)
- PLP2 Expression as a Prognostic and Therapeutic Indicator in High-Risk Multiple Myeloma. (PMID:32596309)
- CD45RO(-)CD8(+) T cell-derived exosomes restrict estrogen-driven endometrial cancer development via the ERbeta/miR-765/PLP2/Notch axis. (PMID:33859750)
- PLP2 drives collective cell migration via ZO-1-mediated cytoskeletal remodeling at the leading edge in human colorectal cancer cells. (PMID:34409455)
- PLP2-derived peptide Rb4 triggers PARP-1-mediated necrotic death in murine melanoma cells. (PMID:35190586)
- Structural basis of plp2-mediated cytoskeletal protein folding by TRiC/CCT. (PMID:36921056)
- Low Expression of A3C and PLP2 Indicating a Favorable Prognosis in Human Gliomas. (PMID:37715423)
- Reduced Proteolipid Protein 2 promotes endoplasmic reticulum stress-related apoptosis and increases drug sensitivity in acute myeloid leukemia. (PMID:38085372)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | plp2b | ENSDARG00000036630 |
| danio_rerio | plp2a | ENSDARG00000042972 |
| mus_musculus | Plp2 | ENSMUSG00000031146 |
| mus_musculus | Plp2rt | ENSMUSG00000057762 |
| rattus_norvegicus | Plp2 | ENSRNOG00000039496 |
| rattus_norvegicus | Plp2l1 | ENSRNOG00000055728 |
| caenorhabditis_elegans | F28H1.4 | WBGENE00017909 |
| caenorhabditis_elegans | F47B3.3 | WBGENE00018527 |
Paralogs (14): CMTM1 (ENSG00000089505), CMTM6 (ENSG00000091317), PLLP (ENSG00000102934), CMTM3 (ENSG00000140931), CMTM2 (ENSG00000140932), MALL (ENSG00000144063), MAL2 (ENSG00000147676), CMTM7 (ENSG00000153551), MARVELD1 (ENSG00000155254), CMTM5 (ENSG00000166091), CMTM8 (ENSG00000170293), MAL (ENSG00000172005), CMTM4 (ENSG00000183723), CKLF (ENSG00000217555)
Protein
Protein identifiers
Proteolipid protein 2 — Q04941 (reviewed: Q04941)
Alternative names: Differentiation-dependent protein A4, Intestinal membrane A4 protein
All UniProt accessions (1): Q04941
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in cell differentiation in the intestinal epithelium.
Subcellular location. Membrane.
Tissue specificity. Enriched in colonic mucosa. The expression of A4 follows a gradient along the crypto-villus axis with the most abundant message occurring in the lower half of the crypt.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q04941-1 | 1 | yes |
| Q04941-2 | 2 |
RefSeq proteins (1): NP_002659* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008253 | Marvel | Domain |
| IPR050578 | MARVEL-CKLF_proteins | Family |
Pfam: PF01284
UniProt features (10 total): transmembrane region 4, glycosylation site 2, chain 1, domain 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q04941-F1 | 78.76 | 0.22 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (2): 18, 108
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 314 (showing top):
RNGTGGGC_UNKNOWN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, FLECHNER_PBL_KIDNEY_TRANSPLANT_REJECTED_VS_OK_UP, HORIUCHI_WTAP_TARGETS_DN, GOBP_RESPONSE_TO_PEPTIDE, XU_GH1_AUTOCRINE_TARGETS_UP, JAEGER_METASTASIS_DN, MODULE_151, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, HSIAO_HOUSEKEEPING_GENES, GGGTGGRR_PAX4_03, AAAYRNCTG_UNKNOWN, TTGGGAG_MIR150
GO Biological Process (4): monoatomic ion transport (GO:0006811), chemotaxis (GO:0006935), cytokine-mediated signaling pathway (GO:0019221), monoatomic ion transmembrane transport (GO:0034220)
GO Molecular Function (3): monoatomic ion transmembrane transporter activity (GO:0015075), chemokine binding (GO:0019956), protein binding (GO:0005515)
GO Cellular Component (4): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transport | 1 |
| response to chemical | 1 |
| taxis | 1 |
| cell surface receptor signaling pathway | 1 |
| cellular response to cytokine stimulus | 1 |
| monoatomic ion transport | 1 |
| transmembrane transport | 1 |
| transmembrane transporter activity | 1 |
| monoatomic ion transmembrane transport | 1 |
| cytokine binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| endomembrane system | 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 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
738 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PLP2 | PLP1 | P04400 | 995 |
| PLP2 | PDCL2 | Q8N4E4 | 894 |
| PLP2 | PDCL3 | Q9H2J4 | 840 |
| PLP2 | BECN1 | Q14457 | 774 |
| PLP2 | IRF3 | Q14653 | 701 |
| PLP2 | TUBB2A | Q13885 | 649 |
| PLP2 | TUBB | P05218 | 642 |
| PLP2 | TCP1 | P17987 | 588 |
| PLP2 | SH2D3C | Q8N5H7 | 572 |
| PLP2 | ZUP1 | Q96AP4 | 553 |
| PLP2 | PPP1CA | P08129 | 547 |
| PLP2 | PDC | P20941 | 532 |
| PLP2 | SH2D3A | Q9BRG2 | 479 |
| PLP2 | ISG15 | P05161 | 476 |
| PLP2 | USP2 | O75604 | 444 |
IntAct
227 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TMEM79 | PLP2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| PLP2 | TMEM79 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TMPRSS2 | PLP2 | psi-mi:“MI:0915”(physical association) | 0.600 |
| PLP2 | KASH5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KASH5 | PLP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLP2 | HSD17B13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLP2 | TMEM51 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLP2 | CYB561 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLP2 | SCN3B | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLP2 | ELOVL5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLP2 | LHFPL5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLP2 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| ARFIP2 | PLP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLP2 | FATE1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HSBP1L1 | PLP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLP2 | RNF5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLP2 | SLC14A2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ASGR2 | PLP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLP2 | BNIP3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLP2 | BIK | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLP2 | PACC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (120): TMEM79 (Two-hybrid), CCDC155 (Two-hybrid), PLP2 (Affinity Capture-MS), PLP2 (Affinity Capture-MS), PLP2 (Proximity Label-MS), PLP2 (Affinity Capture-MS), PLP2 (Affinity Capture-MS), PLP2 (Affinity Capture-RNA), PLP2 (Two-hybrid), PLP2 (Two-hybrid), PLP2 (Affinity Capture-MS), PLP2 (Synthetic Lethality), PLP2 (Two-hybrid), PLP2 (Two-hybrid), PLP2 (Two-hybrid)
ESM2 similar proteins: A2VE13, A4K2N5, A4K2W1, B8BPI2, E1BY51, O09117, O09198, O35682, O62646, O88662, O89104, P21145, Q04941, Q10EJ2, Q16563, Q1RMQ3, Q28296, Q3URJ8, Q3ZBY0, Q5R6H1, Q5RAI2, Q5VXT5, Q64349, Q6DHB5, Q6GPN9, Q6P0C6, Q6P742, Q6VBQ5, Q6Y1E2, Q78S06, Q86TG1, Q86UW1, Q8BI08, Q8CJ61, Q8IZ96, Q8IZR5, Q8N2H4, Q8N8D7, Q91WN2, Q95MN6
Diamond homologs: Q04941, Q28597, Q6P742, Q6Y1E2, Q95MN6, Q96DZ9, Q99LJ5, Q9D6G9, Q9R1Q7, Q96MX0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
46 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 17 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
811 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:49172074:G:T | donor_gain | 1.0000 |
| X:49172093:GATT:G | donor_gain | 1.0000 |
| X:49172097:G:GG | donor_gain | 1.0000 |
| X:49173277:GGAGT:G | donor_gain | 1.0000 |
| X:49173278:GAGT:G | donor_gain | 1.0000 |
| X:49173278:GAGTG:G | donor_gain | 1.0000 |
| X:49173280:GT:G | donor_gain | 1.0000 |
| X:49173282:G:GG | donor_gain | 1.0000 |
| X:49173380:C:G | acceptor_gain | 1.0000 |
| X:49173383:CACA:C | acceptor_loss | 1.0000 |
| X:49173385:CA:C | acceptor_loss | 1.0000 |
| X:49173386:A:AT | acceptor_loss | 1.0000 |
| X:49173387:G:C | acceptor_loss | 1.0000 |
| X:49173481:GGG:G | donor_gain | 1.0000 |
| X:49173482:GGG:G | donor_gain | 1.0000 |
| X:49173523:GGTT:G | donor_gain | 1.0000 |
| X:49173668:G:T | donor_gain | 1.0000 |
| X:49174325:T:A | acceptor_gain | 1.0000 |
| X:49174329:CCCCA:C | acceptor_loss | 1.0000 |
| X:49174330:CCCA:C | acceptor_loss | 1.0000 |
| X:49174331:CCAGG:C | acceptor_loss | 1.0000 |
| X:49174332:CAGGT:C | acceptor_loss | 1.0000 |
| X:49174333:A:C | acceptor_loss | 1.0000 |
| X:49174333:AG:A | acceptor_gain | 1.0000 |
| X:49174334:GG:G | acceptor_gain | 1.0000 |
| X:49174422:ACTGG:A | donor_loss | 1.0000 |
| X:49174426:G:GG | donor_gain | 1.0000 |
| X:49172073:G:GT | donor_gain | 0.9900 |
| X:49172095:TT:T | donor_gain | 0.9900 |
| X:49173125:CCA:C | acceptor_loss | 0.9900 |
AlphaMissense
974 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:49174341:G:C | G118R | 0.984 |
| X:49172073:G:A | G25R | 0.983 |
| X:49172073:G:C | G25R | 0.983 |
| X:49173270:T:A | W80R | 0.983 |
| X:49173270:T:C | W80R | 0.983 |
| X:49173410:C:A | A91E | 0.983 |
| X:49173135:T:C | C35R | 0.981 |
| X:49173398:G:C | R87P | 0.977 |
| X:49173279:A:C | S83R | 0.974 |
| X:49173281:T:A | S83R | 0.974 |
| X:49173281:T:G | S83R | 0.974 |
| X:49173137:C:G | C35W | 0.972 |
| X:49174342:G:A | G118D | 0.972 |
| X:49174365:G:C | G126R | 0.972 |
| X:49173481:G:A | G115R | 0.968 |
| X:49173481:G:C | G115R | 0.968 |
| X:49174366:G:A | G126D | 0.968 |
| X:49173482:G:A | G115E | 0.965 |
| X:49173156:T:C | F42L | 0.962 |
| X:49173158:C:A | F42L | 0.962 |
| X:49173158:C:G | F42L | 0.962 |
| X:49173272:G:C | W80C | 0.962 |
| X:49173272:G:T | W80C | 0.962 |
| X:49174375:C:A | A129D | 0.960 |
| X:49172074:G:A | G25E | 0.958 |
| X:49174356:T:C | C123R | 0.958 |
| X:49172083:T:C | L28P | 0.957 |
| X:49172093:G:C | E31D | 0.956 |
| X:49172093:G:T | E31D | 0.956 |
| X:49173136:G:A | C35Y | 0.956 |
dbSNP variants (sampled 300 via entrez): RS1000441232 (X:49172441 G>A), RS1000822608 (X:49174266 C>A), RS1001940945 (X:49173716 G>A,C), RS1004391357 (X:49171018 C>T), RS1004675270 (X:49173571 G>A,T), RS1004726216 (X:49173171 C>A,T), RS1006399805 (X:49175392 G>A), RS1008198471 (X:49170449 C>T), RS1011837805 (X:49169933 C>G), RS1013098987 (X:49172001 A>C,G), RS1013157305 (X:49171397 C>G,T), RS1013440986 (X:49174217 G>A), RS1014759412 (X:49173616 G>C), RS1014863204 (X:49172648 G>T), RS1016540890 (X:49174926 A>G)
Disease associations
OMIM: gene MIM:300112 | 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 |
|---|---|---|
| GCST90002401_287 | Platelet distribution width | 9.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007984 | platelet component distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067398 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases expression | 9 |
| Cadmium Chloride | increases palmitoylation, decreases expression, increases expression, decreases reaction, increases abundance | 3 |
| bisphenol A | affects cotreatment, decreases methylation, decreases expression | 2 |
| entinostat | affects cotreatment, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases expression, increases methylation | 2 |
| Cadmium | decreases expression, decreases reaction, increases abundance, increases palmitoylation | 2 |
| Doxorubicin | affects expression, decreases expression | 2 |
| Tretinoin | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| salinomycin | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| methylparaben | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| 2-bromopalmitate | decreases reaction, increases abundance, increases palmitoylation | 1 |
| cadmium acetate | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CD 437 | decreases expression | 1 |
| deguelin | 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 |
| (+)-JQ1 compound | decreases expression | 1 |
| Resveratrol | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Decitabine | increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Acetaminophen | decreases expression | 1 |
| Atrazine | decreases 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 |
|---|---|---|---|
| CHEMBL5652069 | Binding | Binding affinity to human PLP2 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 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TE70 | HAP1 PLP2 (-) 1 | Cancer cell line | Male |
| CVCL_TE71 | HAP1 PLP2 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.