PRG2
gene geneOn this page
Also known as MBPBMPGproMBP
Summary
PRG2 (proteoglycan 2, pro eosinophil major basic protein, HGNC:9362) is a protein-coding gene on chromosome 11q12.1, encoding Bone marrow proteoglycan (P13727). Cytotoxin and helminthotoxin.
The protein encoded by this gene is the predominant constituent of the crystalline core of the eosinophil granule. High levels of the proform of this protein are also present in placenta and pregnancy serum, where it exists as a complex with several other proteins including pregnancy-associated plasma protein A (PAPPA), angiotensinogen (AGT), and C3dg. This protein may be involved in antiparasitic defense mechanisms as a cytotoxin and helminthotoxin, and in immune hypersensitivity reactions. The encoded protein contains a peptide that displays potent antimicrobial activity against Gram-positive bacteria, Gram-negative bacteria, and fungi. It is directly implicated in epithelial cell damage, exfoliation, and bronchospasm in allergic diseases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 5553 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 93 total — 2 pathogenic
- MANE Select transcript:
NM_002728
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9362 |
| Approved symbol | PRG2 |
| Name | proteoglycan 2, pro eosinophil major basic protein |
| Location | 11q12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MBP, BMPG, proMBP |
| Ensembl gene | ENSG00000186652 |
| Ensembl biotype | protein_coding |
| OMIM | 605601 |
| Entrez | 5553 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 5 protein_coding, 1 retained_intron
ENST00000311862, ENST00000525955, ENST00000530105, ENST00000533605, ENST00000886024, ENST00000886025
RefSeq mRNA: 4 — MANE Select: NM_002728
NM_001243245, NM_001302926, NM_001302927, NM_002728
CCDS: CCDS58133, CCDS7955
Canonical transcript exons
ENST00000311862 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001309153 | 57386780 | 57387533 |
| ENSE00002185412 | 57390596 | 57390650 |
| ENSE00003521336 | 57389010 | 57389317 |
| ENSE00003550821 | 57388577 | 57388708 |
| ENSE00003565146 | 57389887 | 57389956 |
| ENSE00003655795 | 57387754 | 57387865 |
Expression profiles
Bgee: expression breadth ubiquitous, 120 present calls, max score 99.86.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 30.7949 / max 19422.1042, expressed in 162 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 119746 | 30.3963 | 156 |
| 119747 | 0.3078 | 37 |
| 119745 | 0.0908 | 12 |
Top tissues by expression
132 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| placenta | UBERON:0001987 | 99.86 | gold quality |
| bone marrow | UBERON:0002371 | 91.07 | gold quality |
| bone marrow cell | CL:0002092 | 84.59 | gold quality |
| right lobe of liver | UBERON:0001114 | 76.17 | gold quality |
| skin of leg | UBERON:0001511 | 73.45 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 72.47 | gold quality |
| zone of skin | UBERON:0000014 | 70.99 | gold quality |
| spleen | UBERON:0002106 | 68.12 | gold quality |
| skin of abdomen | UBERON:0001416 | 68.07 | gold quality |
| adipose tissue | UBERON:0001013 | 66.74 | gold quality |
| liver | UBERON:0002107 | 66.49 | gold quality |
| monocyte | CL:0000576 | 65.00 | gold quality |
| blood | UBERON:0000178 | 64.81 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 63.83 | gold quality |
| leukocyte | CL:0000738 | 63.76 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 61.23 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 61.13 | gold quality |
| granulocyte | CL:0000094 | 60.94 | gold quality |
| omental fat pad | UBERON:0010414 | 60.41 | gold quality |
| right lung | UBERON:0002167 | 60.17 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 58.83 | gold quality |
| esophagus mucosa | UBERON:0002469 | 58.28 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 58.18 | gold quality |
| mucosa of stomach | UBERON:0001199 | 58.00 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 57.90 | gold quality |
| left uterine tube | UBERON:0001303 | 57.24 | gold quality |
| thyroid gland | UBERON:0002046 | 56.67 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 56.50 | gold quality |
| minor salivary gland | UBERON:0001830 | 56.37 | gold quality |
| tibial nerve | UBERON:0001323 | 55.98 | gold quality |
Single-cell (SCXA)
Detected in 15 experiment(s), a significant marker in 14.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9801 | yes | 113530.82 |
| E-MTAB-6701 | yes | 87412.14 |
| E-HCAD-23 | yes | 54444.03 |
| E-MTAB-6678 | yes | 44424.19 |
| E-MTAB-10042 | yes | 16420.81 |
| E-MTAB-9067 | yes | 11883.78 |
| E-CURD-112 | yes | 9341.56 |
| E-MTAB-10432 | yes | 5546.29 |
| E-MTAB-7407 | yes | 3063.42 |
| E-HCAD-6 | yes | 2095.85 |
| E-HCAD-4 | yes | 1343.13 |
| E-CURD-77 | yes | 1011.53 |
| E-MTAB-8142 | yes | 14.40 |
| E-HCAD-10 | yes | 12.19 |
| E-ANND-3 | no | 2.76 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CEBPB, CEBPE, GATA1, GATA2, GFI1, SPI1
miRNA regulators (miRDB)
54 targeting PRG2, 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-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-3934-5P | 99.67 | 64.04 | 846 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-7159-3P | 99.51 | 70.17 | 1920 |
| HSA-MIR-143-3P | 99.49 | 69.05 | 1457 |
| HSA-MIR-4770 | 99.49 | 69.09 | 1451 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-6081 | 99.48 | 66.07 | 1446 |
| HSA-MIR-4666A-5P | 99.41 | 69.72 | 1887 |
| HSA-MIR-3140-5P | 99.39 | 69.04 | 1136 |
| HSA-MIR-4644 | 99.35 | 69.12 | 2514 |
| HSA-MIR-185-5P | 99.35 | 68.60 | 2497 |
| HSA-MIR-3678-3P | 99.31 | 67.10 | 1432 |
Literature-anchored findings (GeneRIF, showing 30)
- Transcription is regulated by novel combinatorial interactions of GATA-1, PU.1, and C/EBPepsilon isoforms. (PMID:12202480)
- IGF bioactivity is regulated by reversible cell surface binding of PAPP-A, which in turn is regulated by proMBP (PMID:12370176)
- MBP’s structure is described, and its ability to bind to pregnancy-associated plasma protein A explained (PMID:12421832)
- Deposits of eosinophilic MBP are found on the surface of eosinophils and damaged muscle fibers surrounded by eosinophils in patients with idiopathic eosinophilic myositis. (PMID:12534990)
- MBP stimulates a Src kinase-dependent activation of class I(A) phosphoinositide 3-kinase and, in turn, activation of protein kinase C zeta in neutrophils, which contributes to the activation of NADPH oxidase and resultant superoxide production. (PMID:14500673)
- Proform of MPB forms a covalent complex with PAPPA in which PAPPA is inhibited. (PMID:14988014)
- the proform of eosinophil major basic protein inhibits the proteolytic activity of PAPP-A (PMID:15647258)
- two regions shown previously to contain the cytotoxic and cytostimulatory properties of MBP are accessible for ligand interaction in cell surface-bound MBP (PMID:16940047)
- Compared to MBP1, which is present in eosinophils, basophils, and a human mast cell line, homologous MBP2 is present only in eosinophils and may be a useful biomarker for eosinophil-associated diseases. (PMID:17082653)
- Pregnancy-associated plasma protein A is involved in processes preceding vulnerable plaque development in acute coronary syndrome. (PMID:17223728)
- MBP and NE collaborated to cause the pathological effects of nasal polyps. (PMID:18476621)
- The expression of MBP in nasal mucus obtained from chronic rhinosinusitispatients was obviously higher than that of nasal mucus obtained from controls. (PMID:18720885)
- knockdown of endogenous MBP-1 is involved in cellular senescence of HFF through p53-p21 pathway. (PMID:18852884)
- No variation in genes major basic protein for Atopic dermatitis pathogenesis in this German cohort (PMID:19014520)
- The significantly elevated levels of proMBP in myelofibrosis patients implies that proMBP could be an important stromal cytokine in bone marrow fibrosis. (PMID:19039208)
- addition to granule-stored MBP, even unstimulated eosinophils contained appreciable amounts of MBP within secretory vesicles (PMID:19398958)
- The proMBP is a novel first trimester serum marker for adverse pregnancy outcome. (PMID:19626619)
- novel transcript was alternatively transcribed from intron III of the ENO1 gene and was feasible for MBP-1 production (PMID:20849415)
- Combinations of respiratory syncytial virus and MBP synergistically induced cell death in pulmonary alveolar epithelial cells (A549). (PMID:20977431)
- During pregnancy, the proform of eosinophil major basic protein-angiotensinogen constitutes the major form in late pregnancy. (PMID:23033876)
- Eosinophil major basic protein activates human cord blood mast cells primed with fibroblast membranes by integrin-beta1. (PMID:24112102)
- mRNA levels of eosinophil granule proteins, rather than sputum eosinophil%, may reflect airway hyperresponsiveness and airflow limitation. (PMID:24814827)
- free protein in nasal mucus can be used as a biomarker to diagnose chronic rhinosinusitis (PMID:25266917)
- MBP-1 aggregation is important for innate immunity and immunopathology mediated by eosinophils.MBP-1 toxicity is restrained via crystallization in eosinophil secretory granules. (PMID:25728769)
- Low PRG2 expression is associated with drug resistance in Chronic myeloid leukemia. (PMID:29936783)
- Mechanism of atopic cataract caused by eosinophil granule major basic protein. (PMID:31595373)
- This protein contains a peptide that displays strong antibacterial activity against Gram-positive bacteria, Gram-negative bacteria, and fungi. (PMID:319906)
- Development and application of novel immunoassays for eosinophil granule major basic proteins to evaluate eosinophilia and myeloproliferative disorders. (PMID:33689807)
- PRG2 and AQPEP are misexpressed in fetal membranes in placenta previa and percretadagger. (PMID:33982062)
- Comparison of pancreatic enzyme abnormalities and protease-activated receptor-2-positive eosinophils in the duodenum of patients with functional dyspepsia-irritable bowel syndrome overlap with functional dyspepsia alone in Asian populations. (PMID:37278449)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Prg2 | ENSMUSG00000027073 |
| rattus_norvegicus | Prg2 | ENSRNOG00000008394 |
Paralogs (1): PRG3 (ENSG00000156575)
Protein
Protein identifiers
Bone marrow proteoglycan — P13727 (reviewed: P13727)
Alternative names: Proteoglycan 2
All UniProt accessions (1): P13727
UniProt curated annotations — full annotation on UniProt →
Function. Cytotoxin and helminthotoxin. Also induces non-cytolytic histamine release from human basophils. Involved in antiparasitic defense mechanisms and immune hypersensitivity reactions. The proform acts as a proteinase inhibitor, reducing the activity of PAPPA.
Subunit / interactions. In pregnancy serum, the proform exists as a disulfide-linked 2:2 heterotetramer with PAPPA, as a disulfide-linked 2:2 heterotetramer with AGT, and as a complex (probably a 2:2:2 heterohexamer) with AGT and C3dg.
Subcellular location. Secreted Cytoplasmic vesicle. Secretory vesicle.
Tissue specificity. Detected in plasma and urine (at protein level). Detected in placenta (at protein level). High levels of the proform in placenta and pregnancy serum; in placenta, localized to X cells of septa and anchoring villi. Lower levels in a variety of other tissues including kidney, myometrium, endometrium, ovaries, breast, prostate, bone marrow and colon.
Post-translational modifications. Nitrated.
Miscellaneous. Binds heparin. Does not bind calcium.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P13727-1 | 1 | yes |
| P13727-2 | 2 |
RefSeq proteins (4): NP_001230174, NP_001289855, NP_001289856, NP_002719* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001304 | C-type_lectin-like | Domain |
| IPR002352 | Eosinophil_major_basic | Family |
| IPR016186 | C-type_lectin-like/link_sf | Homologous_superfamily |
| IPR016187 | CTDL_fold | Homologous_superfamily |
| IPR018378 | C-type_lectin_CS | Conserved_site |
| IPR033816 | EMBP_CTLD | Domain |
| IPR050111 | C-type_lectin/snaclec_domain | Family |
Pfam: PF00059
UniProt features (39 total): strand 12, glycosylation site 6, disulfide bond 4, sequence conflict 3, helix 3, chain 2, sequence variant 2, signal peptide 1, splice variant 1, propeptide 1, turn 1, domain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
9 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4QXX | X-RAY DIFFRACTION | 1.45 |
| 1H8U | X-RAY DIFFRACTION | 1.8 |
| 2BRS | X-RAY DIFFRACTION | 2.2 |
| 9PPV | ELECTRON CRYSTALLOGRAPHY | 3 |
| 9PSE | ELECTRON CRYSTALLOGRAPHY | 3.18 |
| 9PSK | ELECTRON CRYSTALLOGRAPHY | 3.18 |
| 9DKZ | ELECTRON CRYSTALLOGRAPHY | 3.2 |
| 7Y5N | ELECTRON MICROSCOPY | 3.45 |
| 8HGG | ELECTRON MICROSCOPY | 3.64 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P13727-F1 | 76.75 | 0.53 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (4): 51, 125–220, 169, 197–212
Glycosylation sites (6): 34, 62, 86, 23, 24, 25
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
MSigDB gene sets: 496 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_UP, SHEPARD_BMYB_MORPHOLINO_UP, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOCC_SECRETORY_GRANULE, GOCC_CELL_SURFACE, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, TGACCTY_ERR1_Q2, MODULE_16, CAGCTG_AP4_Q5, GOBP_CELL_CELL_SIGNALING, MODULE_66, WEI_MYCN_TARGETS_WITH_E_BOX, MODULE_75, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS
GO Biological Process (7): defense response to nematode (GO:0002215), immune response (GO:0006955), negative regulation of macrophage cytokine production (GO:0010936), negative regulation of interleukin-10 production (GO:0032693), positive regulation of interleukin-4 production (GO:0032753), defense response to bacterium (GO:0042742), immune system process (GO:0002376)
GO Molecular Function (4): heparin binding (GO:0008201), extracellular matrix structural constituent conferring compression resistance (GO:0030021), carbohydrate binding (GO:0030246), protein binding (GO:0005515)
GO Cellular Component (6): extracellular region (GO:0005576), transport vesicle (GO:0030133), extracellular matrix (GO:0031012), extracellular exosome (GO:0070062), ficolin-1-rich granule lumen (GO:1904813), cytoplasmic vesicle (GO:0031410)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| defense response | 2 |
| binding | 2 |
| response to other organism | 1 |
| immune system process | 1 |
| response to stimulus | 1 |
| negative regulation of cytokine production involved in immune response | 1 |
| macrophage cytokine production | 1 |
| regulation of macrophage cytokine production | 1 |
| negative regulation of cytokine production | 1 |
| interleukin-10 production | 1 |
| regulation of interleukin-10 production | 1 |
| positive regulation of cytokine production | 1 |
| interleukin-4 production | 1 |
| regulation of interleukin-4 production | 1 |
| response to bacterium | 1 |
| biological_process | 1 |
| glycosaminoglycan binding | 1 |
| sulfur compound binding | 1 |
| extracellular matrix structural constituent | 1 |
| cellular anatomical structure | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| external encapsulating structure | 1 |
| extracellular vesicle | 1 |
| intracellular organelle lumen | 1 |
| ficolin-1-rich granule | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
628 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PRG2 | PAPPA | Q13219 | 991 |
| PRG2 | RNASE2 | P10153 | 944 |
| PRG2 | IGFBP4 | P22692 | 819 |
| PRG2 | RNASE3 | P12724 | 803 |
| PRG2 | CD300A | Q9UGN4 | 748 |
| PRG2 | EPX | P11678 | 715 |
| PRG2 | AGT | P01019 | 642 |
| PRG2 | IL5 | P05113 | 638 |
| PRG2 | TNNI3 | P19429 | 548 |
| PRG2 | CLC | Q05315 | 480 |
| PRG2 | CRP | P02741 | 474 |
| PRG2 | KITLG | P21583 | 461 |
| PRG2 | CCL11 | P50877 | 454 |
| PRG2 | CD34 | P28906 | 422 |
| PRG2 | IL5RA | Q01344 | 418 |
IntAct
14 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PRG2 | YPEL5 | psi-mi:“MI:0914”(association) | 0.640 |
| PRG2 | PAPPA | psi-mi:“MI:0915”(physical association) | 0.590 |
| PPP1R9A | PRG2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PRG2 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC25A11 | YES1 | psi-mi:“MI:0914”(association) | 0.350 |
| SPEM1 | PRG2 | psi-mi:“MI:0914”(association) | 0.350 |
| PRG2 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| RAB11A | SERPINA3 | psi-mi:“MI:0914”(association) | 0.350 |
| PRG2 | RB1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRG2 | CHD3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PRG2 | RBM48 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (358): PRG2 (Affinity Capture-MS), PRG2 (Affinity Capture-MS), TUBB3 (Affinity Capture-MS), TUBB8 (Affinity Capture-MS), TUBB1 (Affinity Capture-MS), WDR26 (Affinity Capture-MS), HLA-A (Affinity Capture-MS), N4BP2L2 (Affinity Capture-MS), ZNF460 (Affinity Capture-MS), GPRASP2 (Affinity Capture-MS), ACTA2 (Affinity Capture-MS), POTEE (Affinity Capture-MS), PPP6R2 (Affinity Capture-MS), ARMC8 (Affinity Capture-MS), PATZ1 (Affinity Capture-MS)
ESM2 similar proteins: A4IFI1, A5A8Y8, D4AB34, E9PY61, O88200, O88201, O95153, P13727, P51693, P55068, P56722, Q03157, Q16849, Q28062, Q3UY90, Q505J3, Q5RKR3, Q5SZI1, Q60673, Q61361, Q63259, Q6GUQ1, Q6PGN1, Q6PRD1, Q6RUU0, Q6UXB4, Q6UXK2, Q766D5, Q76KP1, Q7TNF8, Q80VJ8, Q80XH4, Q8C0R7, Q8CG70, Q8IVL6, Q8K099, Q8K1S7, Q8NCW0, Q8WUT4, Q91V98
Diamond homologs: A6QP79, A7X3Z4, A7X3Z7, P0DQV8, P13727, P26305, P35247, P81018, P82596, Q02988, Q4V885, Q5KU26, Q5M8X6, Q66S03, Q66S37, Q66S50, Q66S54, Q66S65, Q8K4Q8, Q9Y2Y8, P22032, P35709, Q61878, Q63189, Q9JL95, Q61830, Q9UBG0, Q4TU93, O09037, P22897, Q64449, P10758, P20693, Q28062, Q6UXS0
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| EPX | “up-regulates activity” | PRG2 | “post translational modification” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
93 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 63 |
| Likely benign | 9 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1808639 | GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1 | Pathogenic |
| 816057 | GRCh37/hg19 18q22.3-23(chr18:70383594-78014123)x1 | Pathogenic |
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
1444 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:57387490:G:C | F218L | 0.991 |
| 11:57387490:G:T | F218L | 0.991 |
| 11:57387492:A:G | F218L | 0.991 |
| 11:57387818:A:C | F182L | 0.990 |
| 11:57387818:A:T | F182L | 0.990 |
| 11:57387820:A:G | F182L | 0.990 |
| 11:57387842:C:A | W174C | 0.990 |
| 11:57387842:C:G | W174C | 0.990 |
| 11:57387523:C:A | W207C | 0.986 |
| 11:57387523:C:G | W207C | 0.986 |
| 11:57389022:A:C | F118L | 0.986 |
| 11:57389022:A:T | F118L | 0.986 |
| 11:57389024:A:G | F118L | 0.986 |
| 11:57388601:C:A | W158C | 0.980 |
| 11:57388601:C:G | W158C | 0.980 |
| 11:57387809:C:A | W185C | 0.979 |
| 11:57387809:C:G | W185C | 0.979 |
| 11:57387844:A:G | W174R | 0.977 |
| 11:57387844:A:T | W174R | 0.977 |
| 11:57388649:A:C | N142K | 0.973 |
| 11:57388649:A:T | N142K | 0.973 |
| 11:57387848:A:C | F172L | 0.972 |
| 11:57387848:A:T | F172L | 0.972 |
| 11:57387850:A:G | F172L | 0.972 |
| 11:57388603:A:G | W158R | 0.967 |
| 11:57388603:A:T | W158R | 0.967 |
| 11:57387525:A:G | W207R | 0.959 |
| 11:57387525:A:T | W207R | 0.959 |
| 11:57387826:A:G | W180R | 0.959 |
| 11:57387826:A:T | W180R | 0.959 |
dbSNP variants (sampled 300 via entrez): RS1000878535 (11:57387723 T>C), RS1002892513 (11:57390110 C>T), RS1003107304 (11:57391750 C>G), RS1003174975 (11:57391273 T>C), RS1003634765 (11:57391586 G>A,T), RS1004495947 (11:57390615 G>C), RS1005324558 (11:57386928 T>G), RS1005466159 (11:57391142 T>C), RS1005664568 (11:57388149 T>C), RS1006001504 (11:57389436 G>A,C,T), RS1006056845 (11:57391706 G>A), RS1006106005 (11:57391438 C>T), RS1006940417 (11:57388682 G>A,C), RS1007512439 (11:57388919 A>C), RS1009019167 (11:57392015 C>T)
Disease associations
OMIM: gene MIM:605601 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001438_11 | Crohn’s disease | 8.000000e-09 |
| GCST001578_1 | Age-related macular degeneration (geographic atrophy) | 4.000000e-07 |
| GCST002701_38 | Verbal declarative memory | 2.000000e-06 |
| GCST002726_62 | Glucose homeostasis traits | 8.000000e-06 |
| GCST003448_4 | Erythrocyte cadmium concentration in never smokers | 3.000000e-06 |
| GCST004267_8 | Blood osmolality (transformed sodium) | 3.000000e-07 |
| GCST005352_23 | Paclitaxel disposition in epithelial ovarian cancer | 3.000000e-06 |
| GCST006427_38 | Depression in smokers | 6.000000e-06 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:1001492 | atrophic macular degeneration |
| EFO:0004874 | memory performance |
| EFO:0006805 | word list delayed recall measurement |
| EFO:0006830 | insulin metabolic clearance rate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzene | affects expression | 2 |
| Smoke | increases expression | 2 |
| bisphenol F | affects cotreatment, decreases methylation | 1 |
| 2,4,6-tribromophenol | increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| decabromobiphenyl ether | increases expression | 1 |
| kojic acid | decreases expression | 1 |
| sulforaphane | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| tetrabromobisphenol A | increases expression | 1 |
| ochratoxin A | increases expression | 1 |
| tebuconazole | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | increases expression | 1 |
| hexabrominated diphenyl ether 153 | increases expression | 1 |
| Aripiprazole | affects cotreatment, increases expression | 1 |
| Decitabine | increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Arbutin | decreases expression | 1 |
| Benzo(a)pyrene | decreases methylation, increases methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Cisplatin | decreases expression | 1 |
| Diethylnitrosamine | increases expression | 1 |
| Ozone | affects cotreatment, increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
| beta-Naphthoflavone | decreases expression | 1 |
| Copper Sulfate | increases expression | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D1LG | Abcam Jurkat PRG2 KO | Cancer cell line | Male |
| CVCL_D1Q1 | Abcam K-562 PRG2 KO | Cancer cell line | Female |
| CVCL_D2LM | Abcam Raji PRG2 KO | Cancer cell line | Male |
| CVCL_E0WL | Ubigene Jurkat, Clone E6-1 PRG2 KO | 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.