PRXL2A
geneOn this page
Also known as MGC4248PAMMAdrx
Summary
PRXL2A (peroxiredoxin like 2A, HGNC:28651) is a protein-coding gene on chromosome 10q23.1, encoding Peroxiredoxin-like 2A (Q9BRX8). Involved in redox regulation of the cell.
Enables antioxidant activity. Involved in regulation of osteoclast differentiation. Located in cytoplasm.
Source: NCBI Gene 84293 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 49 total — 1 pathogenic
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_032333
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28651 |
| Approved symbol | PRXL2A |
| Name | peroxiredoxin like 2A |
| Location | 10q23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC4248, PAMM, Adrx |
| Ensembl gene | ENSG00000122378 |
| Ensembl biotype | protein_coding |
| OMIM | 617165 |
| Entrez | 84293 |
Gene structure
Transcript identifiers
Ensembl transcripts: 31 — 31 protein_coding
ENST00000372181, ENST00000372185, ENST00000372187, ENST00000372188, ENST00000606162, ENST00000615554, ENST00000870438, ENST00000870439, ENST00000870440, ENST00000870441, ENST00000870442, ENST00000870443, ENST00000870444, ENST00000870445, ENST00000870446, ENST00000870447, ENST00000870448, ENST00000870449, ENST00000870450, ENST00000923208, ENST00000923209, ENST00000923210, ENST00000923211, ENST00000923212, ENST00000923213, ENST00000960017, ENST00000960018, ENST00000960019, ENST00000960020, ENST00000960021, ENST00000960022
RefSeq mRNA: 6 — MANE Select: NM_032333
NM_001243778, NM_001243779, NM_001243780, NM_001243781, NM_001243782, NM_032333
CCDS: CCDS58089, CCDS7368
Canonical transcript exons
ENST00000606162 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000830451 | 80422417 | 80422508 |
| ENSE00000830452 | 80425866 | 80426006 |
| ENSE00000830453 | 80427332 | 80427496 |
| ENSE00001457090 | 80408551 | 80408643 |
| ENSE00001457123 | 80420466 | 80420645 |
| ENSE00003695025 | 80431986 | 80437115 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 99.67.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 47.8669 / max 942.0138, expressed in 1568 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 105854 | 31.2082 | 1543 |
| 105862 | 8.2661 | 708 |
| 105855 | 7.5880 | 1135 |
| 105856 | 0.3117 | 57 |
| 105859 | 0.1794 | 82 |
| 105861 | 0.1470 | 61 |
| 105860 | 0.0940 | 54 |
| 105858 | 0.0725 | 41 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pigmented layer of retina | UBERON:0001782 | 99.67 | gold quality |
| corpus epididymis | UBERON:0004359 | 99.63 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 99.52 | gold quality |
| upper leg skin | UBERON:0004262 | 99.51 | gold quality |
| kidney epithelium | UBERON:0004819 | 99.48 | gold quality |
| ileal mucosa | UBERON:0000331 | 99.42 | gold quality |
| jejunal mucosa | UBERON:0000399 | 99.37 | gold quality |
| upper arm skin | UBERON:0004263 | 99.30 | gold quality |
| caput epididymis | UBERON:0004358 | 99.14 | gold quality |
| skin of hip | UBERON:0001554 | 99.00 | gold quality |
| mammalian vulva | UBERON:0000997 | 98.99 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 98.98 | gold quality |
| postcentral gyrus | UBERON:0002581 | 98.97 | gold quality |
| parietal lobe | UBERON:0001872 | 98.93 | gold quality |
| cauda epididymis | UBERON:0004360 | 98.87 | gold quality |
| adipose tissue | UBERON:0001013 | 98.85 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 98.83 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 98.73 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 98.73 | gold quality |
| pons | UBERON:0000988 | 98.69 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 98.68 | gold quality |
| renal medulla | UBERON:0000362 | 98.62 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 98.60 | gold quality |
| myocardium | UBERON:0002349 | 98.56 | gold quality |
| gingiva | UBERON:0001828 | 98.52 | gold quality |
| gingival epithelium | UBERON:0001949 | 98.51 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 98.50 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 98.49 | gold quality |
| entorhinal cortex | UBERON:0002728 | 98.48 | gold quality |
| nucleus accumbens | UBERON:0001882 | 98.44 | gold quality |
Single-cell (SCXA)
Detected in 14 experiment(s), a significant marker in 10.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-23 | yes | 2236.76 |
| E-GEOD-114530 | yes | 952.74 |
| E-HCAD-10 | yes | 611.62 |
| E-CURD-114 | yes | 72.52 |
| E-MTAB-7316 | yes | 32.81 |
| E-MTAB-6701 | yes | 18.62 |
| E-CURD-112 | yes | 12.81 |
| E-MTAB-7249 | yes | 11.01 |
| E-MTAB-8410 | yes | 8.90 |
| E-MTAB-10283 | no | 890.31 |
| E-MTAB-8271 | no | 819.44 |
| E-MTAB-6142 | no | 119.43 |
| E-MTAB-10137 | no | 7.11 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR1I2
miRNA regulators (miRDB)
45 targeting PRXL2A, 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-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-7845-5P | 99.88 | 64.88 | 771 |
| HSA-MIR-489-3P | 99.80 | 66.46 | 839 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-3913-3P | 99.74 | 66.53 | 938 |
| HSA-MIR-586 | 99.65 | 70.40 | 2051 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-4489 | 99.50 | 65.56 | 785 |
| HSA-MIR-147B-5P | 99.45 | 70.62 | 2432 |
| HSA-MIR-4762-3P | 99.43 | 69.72 | 2363 |
| HSA-MIR-125A-5P | 99.36 | 70.59 | 1640 |
| HSA-MIR-125B-5P | 99.36 | 70.36 | 1662 |
| HSA-MIR-32-3P | 99.36 | 68.20 | 2517 |
| HSA-MIR-4777-5P | 99.33 | 67.53 | 1148 |
Literature-anchored findings (GeneRIF, showing 5)
- The PAMM is a redox regulatory protein that modulates osteoclast differentiation in vitro. PAMM expression may affect bone resorption in vivo and help to maintain bone mass. (PMID:19951071)
- Antioxidant stress induces PAMM mRNA expression in human peripheral blood mononuclear cells . (PMID:26402163)
- results suggest that adipocyte-derived PAMM may suppress macrophage activation by inhibiting MAPK signalling pathway. (PMID:26438880)
- this study has pinpointed novel clues demonstrating that downregulation of miR-125b suppressor underlies upregulation of PRXL2A in OSCC, and this then protects the affected tumor cells from oxidative stress. (PMID:30785086)
- FAM213A is linked to prognostic significance in acute myeloid leukemia through regulation of oxidative stress and myelopoiesis. (PMID:32124993)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Prxl2a | ENSMUSG00000021792 |
| rattus_norvegicus | Prxl2a | ENSRNOG00000011140 |
Protein
Protein identifiers
Peroxiredoxin-like 2A — Q9BRX8 (reviewed: Q9BRX8)
Alternative names: Peroxiredoxin-like 2 activated in M-CSF stimulated monocytes, Redox-regulatory protein FAM213A
All UniProt accessions (1): Q9BRX8
UniProt curated annotations — full annotation on UniProt →
Function. Involved in redox regulation of the cell. Acts as an antioxidant. Inhibits TNFSF11-induced NFKB1 and JUN activation and osteoclast differentiation. May affect bone resorption and help to maintain bone mass. Acts as a negative regulator of macrophage-mediated inflammation by inhibiting macrophage production of inflammatory cytokines, probably through suppression of the MAPK signaling pathway.
Subcellular location. Cytoplasm. Secreted.
Tissue specificity. Expressed in CSF1 and TNFSF11-stimulated CD14(+) peripheral blood mononuclear cells (PBMCs).
Induction. Up-regulated by CSF1 in peripheral blood mononuclear cells (PBMCs). This induction is reduced in the presence of TNFSF11.
Miscellaneous. The active site cysteines correspond to the redox-active cysteines of peroxiredoxins.
Similarity. Belongs to the peroxiredoxin-like PRXL2 family. PRXL2A subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BRX8-1 | 1 | yes |
| Q9BRX8-2 | 2 |
RefSeq proteins (6): NP_001230707, NP_001230708, NP_001230709, NP_001230710, NP_001230711, NP_115709* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR032801 | PXL2A/B/C | Family |
Pfam: PF13911
UniProt features (9 total): active site 2, mutagenesis site 2, sequence conflict 2, chain 1, region of interest 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BRX8-F1 | 88.27 | 0.65 |
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 (2): 85 (redox-active); 88 (redox-active)
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 85 | decrease of about 38% in antioxidant activity in tnfsf11-stimulated osteoclasts and reduced inhibition of tnfsf11-induce |
| 88 | decrease of about 125% in antioxidant activity in tnfsf11-stimulated osteoclasts and reduced inhibition of tnfsf11-induc |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 181 (showing top):
GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION, GCM_GSPT1, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_MYELOID_LEUKOCYTE_DIFFERENTIATION, GOBP_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION, GOBP_REGULATION_OF_HEMOPOIESIS, GOBP_CELLULAR_RESPONSE_TO_TOXIC_SUBSTANCE, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_CDC25_UP, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_6, GOBP_DETOXIFICATION, SANSOM_APC_TARGETS_DN, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GCM_NF2, GOMF_ANTIOXIDANT_ACTIVITY
GO Biological Process (2): regulation of osteoclast differentiation (GO:0045670), cellular oxidant detoxification (GO:0098869)
GO Molecular Function (1): antioxidant activity (GO:0016209)
GO Cellular Component (2): extracellular region (GO:0005576), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| regulation of myeloid leukocyte differentiation | 1 |
| osteoclast differentiation | 1 |
| cellular detoxification | 1 |
| molecular_function | 1 |
| cellular oxidant detoxification | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
526 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PRXL2A | HSP90AB1 | P08238 | 720 |
| PRXL2A | GUSB | P08236 | 635 |
| PRXL2A | PALM | O75781 | 524 |
| PRXL2A | GAPDH | P00354 | 515 |
| PRXL2A | ACTB | P02570 | 506 |
| PRXL2A | POTEF | A5A3E0 | 505 |
| PRXL2A | B2M | P01884 | 450 |
| PRXL2A | GSTO1 | P78417 | 438 |
| PRXL2A | PRXL2C | Q7RTV5 | 435 |
| PRXL2A | HADHA | P40939 | 433 |
| PRXL2A | HPRT1 | P00492 | 427 |
| PRXL2A | ACADVL | P49748 | 425 |
| PRXL2A | ST3GAL4 | Q11206 | 417 |
| PRXL2A | RIDA | P52758 | 403 |
| PRXL2A | ATP5MK | Q96IX5 | 400 |
IntAct
90 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HLA-C | HLA-A | psi-mi:“MI:0914”(association) | 0.670 |
| NIPAL1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.640 |
| MME | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| ADGRG5 | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| A4GNT | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| GDPD5 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| FAM131B | AURKA | psi-mi:“MI:0914”(association) | 0.530 |
| TLR5 | MAN1A2 | psi-mi:“MI:0914”(association) | 0.530 |
| HLA-G | HLA-B | psi-mi:“MI:0914”(association) | 0.530 |
| YIPF3 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| CSGALNACT2 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| CHRND | TPST2 | psi-mi:“MI:0914”(association) | 0.530 |
| TSPAN5 | SC5D | psi-mi:“MI:0914”(association) | 0.530 |
| VAPB | psi-mi:“MI:0914”(association) | 0.500 | |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| HMGA1 | PRXL2A | psi-mi:“MI:0915”(physical association) | 0.400 |
| PCNA | PRXL2A | psi-mi:“MI:0915”(physical association) | 0.370 |
| PRXL2A | MYCBP2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| K8.1 | EXOC5 | psi-mi:“MI:0914”(association) | 0.350 |
| YIPF3 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| RTN1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| SLC39A12 | POM121C | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM30A | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC18A1 | LIMK2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (126): FAM213A (Affinity Capture-MS), FAM213A (Affinity Capture-MS), FAM213A (Affinity Capture-MS), FAM213A (Affinity Capture-MS), FAM213A (Affinity Capture-MS), FAM213A (Affinity Capture-MS), FAM213A (Affinity Capture-MS), FAM213A (Affinity Capture-MS), FAM213A (Affinity Capture-MS), FAM213A (Affinity Capture-MS), FAM213A (Affinity Capture-MS), FAM213A (Affinity Capture-MS), FAM213A (Affinity Capture-MS), FAM213A (Affinity Capture-MS), FAM213A (Affinity Capture-MS)
ESM2 similar proteins: A0A1D6NER6, A0JPD7, A1D3P4, B0XPV4, B4QL99, B5X9L9, D9IL24, J9RYI6, O13861, O14349, O42411, O42449, O48529, O74482, P06623, P09543, P13233, P18496, P36101, Q05892, Q0V3D6, Q0WNZ5, Q1H537, Q2QEI3, Q2UBI2, Q38932, Q3ZBK2, Q4WJ38, Q5RFD0, Q5YLB4, Q5ZI34, Q641F0, Q6AXX6, Q6CY84, Q6DW73, Q6DW75, Q6FWV2, Q6NV24, Q6PBP3, Q804E1
Diamond homologs: A0JPD7, A9CQL8, C1C416, D3ZVR7, Q3ZBK2, Q58CY6, Q5R7S9, Q5ZI34, Q641F0, Q6AXX6, Q6PBP3, Q8TBF2, Q9BRX8, Q9CYH2, Q9DB60, B5X9L9, Q28IJ3, Q6AZG8, Q6NV24, Q9ZUU2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 106 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Antigen Presentation: Folding, assembly and peptide loading of class I MHC | 5 | 26.2× | 8e-05 |
| Interferon gamma signaling | 5 | 8.4× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
49 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 36 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2574686 | GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) | Pathogenic |
SpliceAI
1059 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:80420465:GAAAT:G | acceptor_gain | 1.0000 |
| 10:80420641:GAAGG:G | donor_gain | 1.0000 |
| 10:80420642:AAGG:A | donor_gain | 1.0000 |
| 10:80420643:AGG:A | donor_gain | 1.0000 |
| 10:80420643:AGGG:A | donor_loss | 1.0000 |
| 10:80420644:GG:G | donor_gain | 1.0000 |
| 10:80420644:GGG:G | donor_gain | 1.0000 |
| 10:80420645:GG:G | donor_gain | 1.0000 |
| 10:80420646:G:GG | donor_gain | 1.0000 |
| 10:80420647:T:A | donor_loss | 1.0000 |
| 10:80422415:A:AG | acceptor_gain | 1.0000 |
| 10:80422416:G:GG | acceptor_gain | 1.0000 |
| 10:80422505:AGAGG:A | donor_loss | 1.0000 |
| 10:80422506:GAG:G | donor_gain | 1.0000 |
| 10:80422507:AGG:A | donor_loss | 1.0000 |
| 10:80422509:G:GC | donor_loss | 1.0000 |
| 10:80422510:TGAG:T | donor_loss | 1.0000 |
| 10:80422511:GAGT:G | donor_loss | 1.0000 |
| 10:80425860:CTACA:C | acceptor_loss | 1.0000 |
| 10:80425861:TACA:T | acceptor_loss | 1.0000 |
| 10:80425863:CAG:C | acceptor_loss | 1.0000 |
| 10:80425864:A:AG | acceptor_gain | 1.0000 |
| 10:80425864:A:AT | acceptor_loss | 1.0000 |
| 10:80425865:G:GG | acceptor_gain | 1.0000 |
| 10:80425865:GGA:G | acceptor_gain | 1.0000 |
| 10:80425865:GGAA:G | acceptor_gain | 1.0000 |
| 10:80426006:GGTG:G | donor_loss | 1.0000 |
| 10:80426008:T:A | donor_loss | 1.0000 |
| 10:80427323:A:AG | acceptor_gain | 1.0000 |
| 10:80427324:C:G | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000031589 (10:80428649 A>G,T), RS1000102857 (10:80417663 A>G), RS1000130282 (10:80428616 C>G), RS1000277654 (10:80421317 G>A), RS1000332835 (10:80415032 T>C), RS1000516217 (10:80410078 G>A), RS1000747451 (10:80416483 T>G), RS1000914453 (10:80414860 C>A,T), RS1000951781 (10:80435288 T>C), RS1000996759 (10:80408857 C>T), RS1001017466 (10:80415399 T>C), RS1001219332 (10:80411962 T>A,C,G), RS1001512326 (10:80415153 G>T), RS1001565268 (10:80417631 A>G), RS1001610428 (10:80405965 G>T)
Disease associations
OMIM: gene MIM:617165 | disease phenotypes: MIM:609625
GenCC curated gene-disease
Mondo (1): distal 10q deletion syndrome (MONDO:0012315)
Orphanet (1): Distal deletion 10q syndrome (Orphanet:96148)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001725_5 | Inflammatory bowel disease | 9.000000e-16 |
| GCST004641_28 | Borderline personality disorder | 5.000000e-06 |
| GCST005542_5 | Sarcoidosis (non-Lofgren’s syndrome without extrapulmonary manifestations) | 4.000000e-06 |
| GCST006412_111 | Intraocular pressure | 1.000000e-09 |
| GCST006979_595 | Heel bone mineral density | 2.000000e-12 |
| GCST007267_122 | Systolic blood pressure | 2.000000e-10 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004695 | intraocular pressure measurement |
| EFO:0009270 | heel bone mineral density |
| EFO:0006335 | systolic blood pressure |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C567182 | Chromosome 10q26 Deletion Syndrome (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3879824 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 7,994 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1873475 | IBRUTINIB | 4 | 7,994 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.05 | IC50 | 900 | nM | IBRUTINIB |
PubChem BioAssay actives
1 with measured affinity, of 3 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 |
|---|---|---|---|---|
| Ibrutinib | 1337177: Inhibition of PF-06658607 binding to recombinant C-terminal FLAG-tagged FAM213A (unknown origin) expressed in HEK293T cells after 1 hr by gel-based ABPP assay | ic50 | 0.9000 | uM |
CTD chemical–gene interactions
68 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression | 4 |
| Valproic Acid | affects cotreatment, decreases expression, increases expression | 4 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| Tetrachlorodibenzodioxin | decreases expression, increases expression | 3 |
| bisphenol A | increases expression | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 2 |
| bisphenol S | increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression, decreases methylation | 2 |
| Dexamethasone | increases expression, affects cotreatment | 2 |
| Tretinoin | increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Aflatoxin B1 | affects expression, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| afuresertib | increases expression | 1 |
| bisphenol F | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| deoxynivalenol | decreases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| pyrogallol 1,3-dimethyl ether | increases expression, affects cotreatment, affects localization | 1 |
| mono-(2-ethylhexyl)phthalate | increases expression | 1 |
| potassium chromate(VI) | increases expression | 1 |
| cupric chloride | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chloropicrin | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| bisphenol B | increases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3877214 | Binding | Inhibition of PF-06658607 binding to recombinant C-terminal FLAG-tagged FAM213A (unknown origin) expressed in HEK293T cells after 1 hr by gel-based ABPP assay | Non-kinase targets of protein kinase inhibitors. — Nat Rev Drug Discov |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): distal 10q deletion syndrome, sarcoidosis