PGM2
gene geneOn this page
Also known as FLJ10983
Summary
PGM2 (phosphoglucomutase 2, HGNC:8906) is a protein-coding gene on chromosome 4p14, encoding Phosphopentomutase (Q96G03). Catalyzes the conversion of the nucleoside breakdown products ribose-1-phosphate and deoxyribose-1-phosphate to the corresponding 5-phosphopentoses.
Enables phosphoglucomutase activity and phosphopentomutase activity. Predicted to be involved in purine ribonucleoside salvage. Predicted to act upstream of or within glucose metabolic process. Located in cytosol.
Source: NCBI Gene 55276 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 107 total
- Druggable target: yes
- MANE Select transcript:
NM_018290
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8906 |
| Approved symbol | PGM2 |
| Name | phosphoglucomutase 2 |
| Location | 4p14 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10983 |
| Ensembl gene | ENSG00000169299 |
| Ensembl biotype | protein_coding |
| OMIM | 172000 |
| Entrez | 55276 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 10 protein_coding, 4 nonsense_mediated_decay
ENST00000381967, ENST00000505986, ENST00000510084, ENST00000512556, ENST00000515668, ENST00000625312, ENST00000880101, ENST00000880102, ENST00000880103, ENST00000880104, ENST00000880105, ENST00000880106, ENST00000940590, ENST00000955601
RefSeq mRNA: 1 — MANE Select: NM_018290
NM_018290
CCDS: CCDS3443
Canonical transcript exons
ENST00000381967 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002026873 | 37861510 | 37862937 |
| ENSE00002087586 | 37826686 | 37826813 |
| ENSE00003466121 | 37845633 | 37845730 |
| ENSE00003473680 | 37848522 | 37848651 |
| ENSE00003478276 | 37840066 | 37840259 |
| ENSE00003493893 | 37855608 | 37855741 |
| ENSE00003512455 | 37850184 | 37850373 |
| ENSE00003528359 | 37846931 | 37847111 |
| ENSE00003560244 | 37839848 | 37839931 |
| ENSE00003620758 | 37847202 | 37847295 |
| ENSE00003632259 | 37834618 | 37834724 |
| ENSE00003633570 | 37844364 | 37844553 |
| ENSE00003635124 | 37829964 | 37830131 |
| ENSE00003639115 | 37837529 | 37837613 |
Expression profiles
Bgee: expression breadth ubiquitous, 250 present calls, max score 99.34.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 43.6886 / max 530.7622, expressed in 1826 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 47303 | 43.6886 | 1826 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gingival epithelium | UBERON:0001949 | 99.34 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 99.17 | gold quality |
| gingiva | UBERON:0001828 | 99.05 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 98.67 | gold quality |
| oral cavity | UBERON:0000167 | 97.59 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 97.10 | gold quality |
| parietal pleura | UBERON:0002400 | 96.93 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 96.58 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 96.32 | gold quality |
| visceral pleura | UBERON:0002401 | 96.21 | gold quality |
| penis | UBERON:0000989 | 95.85 | gold quality |
| secondary oocyte | CL:0000655 | 95.80 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 95.56 | gold quality |
| esophagus mucosa | UBERON:0002469 | 95.28 | gold quality |
| mammalian vulva | UBERON:0000997 | 95.04 | gold quality |
| tibia | UBERON:0000979 | 94.97 | gold quality |
| upper leg skin | UBERON:0004262 | 94.90 | gold quality |
| amniotic fluid | UBERON:0000173 | 94.59 | gold quality |
| upper arm skin | UBERON:0004263 | 94.25 | gold quality |
| cartilage tissue | UBERON:0002418 | 93.06 | gold quality |
| monocyte | CL:0000576 | 93.02 | gold quality |
| ventricular zone | UBERON:0003053 | 93.00 | gold quality |
| skin of hip | UBERON:0001554 | 92.97 | gold quality |
| placenta | UBERON:0001987 | 92.92 | gold quality |
| leukocyte | CL:0000738 | 92.70 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 92.55 | gold quality |
| pancreatic ductal cell | CL:0002079 | 92.01 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 91.64 | gold quality |
| bone marrow | UBERON:0002371 | 91.51 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 91.35 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-137537 | yes | 30.55 |
| E-ANND-3 | yes | 7.54 |
| E-GEOD-36552 | no | 240.14 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
82 targeting PGM2, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-544A | 99.84 | 68.66 | 1965 |
Literature-anchored findings (GeneRIF, showing 2)
- In the present work, phosphopentomutase was purified from human erythrocytes and found it to copurify with a 68-kDa polypeptide that was identified by mass spectrometry as PGM2, sharing about 20% identity with mammalian phosphoglucomutase 1. (PMID:17804405)
- FGF20 and PGM2 variants are associated with childhood asthma in family-based whole-genome sequencing studies. (PMID:36255742)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pgm2 | ENSDARG00000018178 |
| mus_musculus | Pgm2 | ENSMUSG00000029171 |
| rattus_norvegicus | Pgm2 | ENSRNOG00000002185 |
| drosophila_melanogaster | Pgm1 | FBGN0003076 |
| caenorhabditis_elegans | WBGENE00019890 |
Paralogs (6): PGM3 (ENSG00000013375), PGM1 (ENSG00000079739), PRTFDC1 (ENSG00000099256), PGM5 (ENSG00000154330), PGM2L1 (ENSG00000165434), HPRT1 (ENSG00000165704)
Protein
Protein identifiers
Phosphopentomutase — Q96G03 (reviewed: Q96G03)
Alternative names: Glucose phosphomutase 2, Phosphodeoxyribomutase, Phosphoglucomutase-2
All UniProt accessions (4): Q96G03, E7ENQ8, E9PD70, H0Y921
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the conversion of the nucleoside breakdown products ribose-1-phosphate and deoxyribose-1-phosphate to the corresponding 5-phosphopentoses. Catalyzes the reversible isomerization of alpha-D-glucose 1-phosphate to alpha-D-glucose 6-phosphate but with a lower catalytic efficiency. The mechanism proceeds via the intermediate compound alpha-D-glucose 1,6-bisphosphate. In vitro, also has a low glucose 1,6-bisphosphate synthase activity which is most probably not physiologically relevant.
Subunit / interactions. Monomer.
Subcellular location. Cytoplasm. Cytosol.
Activity regulation. The phosphomutase activity is stimulated by glucose 1,6-bisphosphate.
Cofactor. Binds 1 Mg(2+) ion per subunit.
Similarity. Belongs to the phosphohexose mutase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96G03-1 | 1 | yes |
| Q96G03-2 | 2 |
RefSeq proteins (1): NP_060760* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005841 | Alpha-D-phosphohexomutase_SF | Family |
| IPR005844 | A-D-PHexomutase_a/b/a-I | Domain |
| IPR005845 | A-D-PHexomutase_a/b/a-II | Domain |
| IPR005846 | A-D-PHexomutase_a/b/a-III | Domain |
| IPR016055 | A-D-PHexomutase_a/b/a-I/II/III | Homologous_superfamily |
| IPR016066 | A-D-PHexomutase_CS | Conserved_site |
| IPR036900 | A-D-PHexomutase_C_sf | Homologous_superfamily |
Pfam: PF02878, PF02879, PF02880
Catalyzed reactions (Rhea), 5 shown:
- alpha-D-ribose 1-phosphate = D-ribose 5-phosphate (RHEA:18793)
- alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate (RHEA:23536)
- 2-deoxy-alpha-D-ribose 1-phosphate = 2-deoxy-D-ribose 5-phosphate (RHEA:27658)
- O-phospho-L-seryl-[protein] + alpha-D-glucose 1-phosphate = alpha-D-glucose 1,6-bisphosphate + L-seryl-[protein] (RHEA:68748)
- alpha-D-glucose 1,6-bisphosphate + L-seryl-[protein] = O-phospho-L-seryl-[protein] + alpha-D-glucose 6-phosphate (RHEA:68752)
UniProt features (26 total): binding site 11, splice variant 4, sequence conflict 4, modified residue 2, sequence variant 2, initiator methionine 1, chain 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96G03-F1 | 95.60 | 0.93 |
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 (1): 165 (phosphoserine intermediate)
Ligand- & substrate-binding residues (11): 327; 400; 424; 438; 63; 165; 165 (via phosphate group); 322; 324; 326; 326
Post-translational modifications (2): 2, 165
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-71336 | Pentose phosphate pathway |
MSigDB gene sets: 181 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_DN, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_POLYSACCHARIDE_BIOSYNTHETIC_PROCESS, GOCC_SECRETORY_GRANULE, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, KEGG_GLYCOLYSIS_GLUCONEOGENESIS, GOBP_PURINE_CONTAINING_COMPOUND_SALVAGE, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOLDRATH_ANTIGEN_RESPONSE, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_POLYSACCHARIDE_CATABOLIC_PROCESS
GO Biological Process (5): glycogen biosynthetic process (GO:0005978), glycogen catabolic process (GO:0005980), glucose metabolic process (GO:0006006), purine ribonucleoside salvage (GO:0006166), carbohydrate metabolic process (GO:0005975)
GO Molecular Function (8): magnesium ion binding (GO:0000287), phosphoglucomutase activity (GO:0004614), phosphopentomutase activity (GO:0008973), catalytic activity (GO:0003824), protein binding (GO:0005515), isomerase activity (GO:0016853), intramolecular phosphotransferase activity (GO:0016868), metal ion binding (GO:0046872)
GO Cellular Component (6): extracellular region (GO:0005576), cytosol (GO:0005829), secretory granule lumen (GO:0034774), extracellular exosome (GO:0070062), ficolin-1-rich granule lumen (GO:1904813), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
| Metabolism of carbohydrates and carbohydrate derivatives | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| glycogen metabolic process | 2 |
| intramolecular phosphotransferase activity | 2 |
| glucan biosynthetic process | 1 |
| glucan catabolic process | 1 |
| hexose metabolic process | 1 |
| purine-containing compound salvage | 1 |
| nucleoside salvage | 1 |
| purine ribonucleoside biosynthetic process | 1 |
| primary metabolic process | 1 |
| metal ion binding | 1 |
| molecular_function | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intramolecular transferase activity | 1 |
| cation binding | 1 |
| cytoplasm | 1 |
| secretory granule | 1 |
| cytoplasmic vesicle lumen | 1 |
| extracellular vesicle | 1 |
| intracellular organelle lumen | 1 |
| ficolin-1-rich granule | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
2612 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PGM2 | PGM1 | P36871 | 968 |
| PGM2 | PGM3 | O95394 | 929 |
| PGM2 | PGM5 | Q15124 | 909 |
| PGM2 | PGD | P52209 | 842 |
| PGM2 | UPP2 | O95045 | 841 |
| PGM2 | AK2 | P54819 | 730 |
| PGM2 | PPAT | Q06203 | 729 |
| PGM2 | ENO1 | P06733 | 728 |
| PGM2 | UPP1 | Q16831 | 724 |
| PGM2 | FUCA1 | P04066 | 724 |
| PGM2 | LAP3 | P28838 | 719 |
| PGM2 | UTP3 | Q9NQZ2 | 687 |
| PGM2 | PNP | P00491 | 682 |
| PGM2 | JCHAIN | P01591 | 647 |
| PGM2 | GPI | P06744 | 646 |
IntAct
37 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| AKR7A3 | AKR7A2 | psi-mi:“MI:0914”(association) | 0.890 |
| CD27 | TCAF2 | psi-mi:“MI:0914”(association) | 0.640 |
| TPD52L1 | TPD52L2 | psi-mi:“MI:0914”(association) | 0.530 |
| TINF2 | PGM2 | psi-mi:“MI:0915”(physical association) | 0.510 |
| HSPB1 | PGM2 | psi-mi:“MI:0915”(physical association) | 0.510 |
| PGM2 | TERF1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ACD | PGM2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| POT1 | PGM2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NEK4 | E2F8 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| CLIC1 | psi-mi:“MI:0914”(association) | 0.350 | |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| STX17 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| OR2A4 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| GOT1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| CCR1 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| AZU1 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| BCAS2 | ISY1-RAB43 | psi-mi:“MI:0914”(association) | 0.350 |
| DDX28 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| GAB2 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| HEY1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| ITM2C | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| KANSL3 | GSPT1 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL49 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| NPPB | ACOT7 | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHGA9 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| PCGF6 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| PEX7 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (69): PGM2 (Two-hybrid), PGM2 (Affinity Capture-Western), C11orf54 (Co-fractionation), PGM2 (Co-fractionation), PGM2 (Co-fractionation), PGM2 (Co-fractionation), PGM2 (Co-fractionation), PGM2 (Co-fractionation), PGM2 (Co-fractionation), PGM2 (Affinity Capture-MS), PGM2 (Proximity Label-MS), PGM2 (Proximity Label-MS), PGM2 (Affinity Capture-RNA), PGM2 (Affinity Capture-MS), PGM2 (Affinity Capture-MS)
ESM2 similar proteins: A3KG59, A4IFH5, B9N1F9, D3ZVR9, O04059, O35331, O35621, O46560, P11172, P24298, P37111, Q03154, Q04609, Q15124, Q17QK3, Q2R483, Q501L1, Q5E9T8, Q5I0K3, Q5NAY4, Q5R514, Q5R5C9, Q5RDE7, Q5RDN7, Q5RFB0, Q5RFI8, Q6AY30, Q6AYS7, Q6K2E8, Q6PTT0, Q6Q0N1, Q6ZV70, Q7TSV4, Q7X7L3, Q8BZF8, Q8CG45, Q8CG76, Q8IYS1, Q8K183, Q8N0X4
Diamond homologs: A0R8M4, A1K5A1, A2CCG3, A2REP8, A3PAW2, A4FX97, A4VWE5, A4W2Q0, A5GII9, A5UKY3, A6TW06, A6UP86, A6UU47, A7HV12, A9KSW8, B0B944, B0BAS3, B0C132, B1N017, B1WR00, B1XP15, B4U3I6, B7ITV9, B9DSE8, C0M9C4, C0MDT1, C0ZIM8, C1B058, C1CWA3, C4KZK4, C4Z1Z8, C5A2H8, O74478, O84822, P0DB38, P0DB39, P18159, P45632, Q027B2, Q03262
SIGNOR signaling
8 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PGM2 | “down-regulates quantity” | “alpha-D-ribose 1-phosphate(2-)” | “chemical modification” |
| PGM2 | “up-regulates quantity” | “D-ribofuranose 5-phosphate(2-)” | “chemical modification” |
| PGM2 | “down-regulates quantity” | “2-deoxy-alpha-D-ribose 1-phosphate” | “chemical modification” |
| PGM2 | “up-regulates quantity” | “2-deoxy-D-ribose 5-phosphate” | “chemical modification” |
| PGM2 | “up-regulates quantity” | “alpha-D-glucose 1-phosphate(2-)” | “chemical modification” |
| PGM2 | “up-regulates quantity” | “alpha-D-glucose 6-phosphate(2-)” | “chemical modification” |
| PGM2 | “down-regulates quantity” | “alpha-D-glucose 1-phosphate(2-)” | “chemical modification” |
| PGM2 | “down-regulates quantity” | “alpha-D-glucose 6-phosphate(2-)” | “chemical modification” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
107 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 77 |
| Likely benign | 5 |
| Benign | 7 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2103 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:37826809:ACAAG:A | donor_loss | 1.0000 |
| 4:37826811:AAGG:A | donor_loss | 1.0000 |
| 4:37826812:AGG:A | donor_loss | 1.0000 |
| 4:37826813:GGTG:G | donor_loss | 1.0000 |
| 4:37829959:TTCA:T | acceptor_loss | 1.0000 |
| 4:37829960:TCAG:T | acceptor_loss | 1.0000 |
| 4:37829961:CAG:C | acceptor_loss | 1.0000 |
| 4:37829962:AGA:A | acceptor_loss | 1.0000 |
| 4:37829963:GA:G | acceptor_gain | 1.0000 |
| 4:37829963:GAATT:G | acceptor_gain | 1.0000 |
| 4:37830130:AGGTA:A | donor_loss | 1.0000 |
| 4:37830131:GGTAC:G | donor_loss | 1.0000 |
| 4:37830132:GT:G | donor_loss | 1.0000 |
| 4:37830133:T:A | donor_loss | 1.0000 |
| 4:37839924:GTTA:G | donor_gain | 1.0000 |
| 4:37839925:TTAT:T | donor_gain | 1.0000 |
| 4:37839927:ATAAG:A | donor_gain | 1.0000 |
| 4:37840054:T:A | acceptor_gain | 1.0000 |
| 4:37840258:AG:A | donor_loss | 1.0000 |
| 4:37840259:GGT:G | donor_loss | 1.0000 |
| 4:37840260:G:GA | donor_loss | 1.0000 |
| 4:37840261:T:G | donor_loss | 1.0000 |
| 4:37845620:T:G | acceptor_gain | 1.0000 |
| 4:37845621:A:AG | acceptor_gain | 1.0000 |
| 4:37845629:TCA:T | acceptor_loss | 1.0000 |
| 4:37845631:A:AG | acceptor_gain | 1.0000 |
| 4:37845631:A:T | acceptor_loss | 1.0000 |
| 4:37845632:G:GC | acceptor_gain | 1.0000 |
| 4:37845632:GA:G | acceptor_gain | 1.0000 |
| 4:37845632:GAC:G | acceptor_gain | 1.0000 |
AlphaMissense
4074 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:37839902:C:G | H166D | 1.000 |
| 4:37845700:A:T | D326V | 1.000 |
| 4:37848552:A:T | K438I | 1.000 |
| 4:37830051:T:C | F57L | 0.999 |
| 4:37830053:T:A | F57L | 0.999 |
| 4:37830053:T:G | F57L | 0.999 |
| 4:37839904:C:A | H166Q | 0.999 |
| 4:37839904:C:G | H166Q | 0.999 |
| 4:37839931:G:C | K175N | 0.999 |
| 4:37839931:G:T | K175N | 0.999 |
| 4:37844506:T:C | F288L | 0.999 |
| 4:37844508:T:A | F288L | 0.999 |
| 4:37844508:T:G | F288L | 0.999 |
| 4:37844529:T:A | N295K | 0.999 |
| 4:37844529:T:G | N295K | 0.999 |
| 4:37845688:A:G | D322G | 0.999 |
| 4:37845688:A:T | D322V | 0.999 |
| 4:37845699:G:C | D326H | 0.999 |
| 4:37845700:A:C | D326A | 0.999 |
| 4:37845701:T:A | D326E | 0.999 |
| 4:37845701:T:G | D326E | 0.999 |
| 4:37847052:A:C | S377R | 0.999 |
| 4:37847054:C:A | S377R | 0.999 |
| 4:37847054:C:G | S377R | 0.999 |
| 4:37847217:T:C | F402L | 0.999 |
| 4:37847219:T:A | F402L | 0.999 |
| 4:37847219:T:G | F402L | 0.999 |
| 4:37847220:A:G | K403E | 0.999 |
| 4:37847222:G:C | K403N | 0.999 |
| 4:37847222:G:T | K403N | 0.999 |
dbSNP variants (sampled 300 via entrez): RS10000528 (4:37843257 G>A,T), RS1000054876 (4:37826735 G>A), RS10000814 (4:37843632 G>A), RS10001580 (4:37850235 A>C,T), RS1000251733 (4:37832577 T>G), RS1000306900 (4:37845130 G>A), RS10003112 (4:37854647 C>A,T), RS1000488819 (4:37862416 G>A), RS1000501602 (4:37844106 T>C), RS1000658837 (4:37844923 G>T), RS1000789712 (4:37831344 C>T), RS1000836669 (4:37850850 G>T), RS1000852382 (4:37833145 A>G), RS1000889087 (4:37850657 C>G,T), RS1000928950 (4:37856076 T>C)
Disease associations
OMIM: gene MIM:172000 | 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 |
|---|---|---|
| GCST010397_58 | Gut microbiota (bacterial taxa, rank normal transformation method) | 3.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007874 | gut microbiome measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067285 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 3 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.54 | Kd | 286.1 | nM | CHEMBL3752910 |
| 6.54 | ED50 | 286.1 | nM | CHEMBL3752910 |
PubChem BioAssay actives
1 with measured affinity, of 4 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148990: Binding affinity to human PGM2 incubated for 45 mins by Kinobead based pull down assay | kd | 0.2861 | uM |
CTD chemical–gene interactions
64 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 5 |
| bisphenol A | affects cotreatment, decreases methylation, decreases expression | 3 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 2 |
| Temozolomide | increases expression, affects response to substance | 2 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Benzo(a)pyrene | increases methylation, increases mutagenesis | 2 |
| Nickel | decreases expression, increases expression | 2 |
| Phenylmercuric Acetate | increases expression, affects cotreatment | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| Particulate Matter | increases expression, decreases expression, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| 2,4,6-tribromophenol | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | increases activity, affects binding, decreases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects localization, increases expression, decreases expression, affects cotreatment | 1 |
| decabromobiphenyl ether | increases expression | 1 |
| kojic acid | increases expression | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| tetrabromobisphenol A | increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases 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 |
|---|---|---|---|
| CHEMBL5652032 | Binding | Binding affinity to human PGM2 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 |
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.