MPPED2
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Also known as 239FBD11S302EHs.46638FAM1BdJ873F21.1dJ1024C24.1
Summary
MPPED2 (metallophosphoesterase domain containing 2, HGNC:1180) is a protein-coding gene on chromosome 11p14.1, encoding Metallophosphoesterase MPPED2 (Q15777). Displays low metallophosphoesterase activity (in vitro).
Predicted to enable manganese ion binding activity; phosphoric diester hydrolase activity; and purine ribonucleotide binding activity.
Source: NCBI Gene 744 — RefSeq curated summary.
At a glance
- GWAS associations: 40
- Clinical variants (ClinVar): 25 total
- MANE Select transcript:
NM_001584
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1180 |
| Approved symbol | MPPED2 |
| Name | metallophosphoesterase domain containing 2 |
| Location | 11p14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | 239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1 |
| Ensembl gene | ENSG00000066382 |
| Ensembl biotype | protein_coding |
| OMIM | 600911 |
| Entrez | 744 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 10 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay
ENST00000358117, ENST00000448418, ENST00000524636, ENST00000524667, ENST00000525519, ENST00000526437, ENST00000528686, ENST00000529220, ENST00000904183, ENST00000904184, ENST00000904185, ENST00000904186, ENST00000904187, ENST00000943646, ENST00000943647
RefSeq mRNA: 7 — MANE Select: NM_001584
NM_001145399, NM_001377952, NM_001377953, NM_001377954, NM_001377955, NM_001377956, NM_001584
CCDS: CCDS44560, CCDS7870
Canonical transcript exons
ENST00000358117 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000708211 | 30535994 | 30536175 |
| ENSE00001421770 | 30410224 | 30411586 |
| ENSE00001763348 | 30580246 | 30580494 |
| ENSE00003507488 | 30417518 | 30417633 |
| ENSE00003522524 | 30414228 | 30414341 |
| ENSE00003617436 | 30495296 | 30495521 |
| ENSE00003911771 | 30586042 | 30586353 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 99.09.
FANTOM5 (CAGE): breadth broad, TPM avg 4.1439 / max 159.0528, expressed in 668 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 119115 | 2.3939 | 610 |
| 119113 | 0.6204 | 339 |
| 119116 | 0.3665 | 167 |
| 119117 | 0.2459 | 99 |
| 119114 | 0.1941 | 120 |
| 119118 | 0.1143 | 53 |
| 119112 | 0.0980 | 34 |
| 119111 | 0.0663 | 18 |
| 119119 | 0.0445 | 22 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 99.09 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.78 | gold quality |
| cortical plate | UBERON:0005343 | 96.48 | gold quality |
| buccal mucosa cell | CL:0002336 | 93.86 | gold quality |
| thyroid gland | UBERON:0002046 | 92.95 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 92.56 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 92.20 | gold quality |
| parotid gland | UBERON:0001831 | 92.10 | gold quality |
| right uterine tube | UBERON:0001302 | 91.82 | gold quality |
| tibia | UBERON:0000979 | 88.15 | gold quality |
| adrenal tissue | UBERON:0018303 | 87.65 | gold quality |
| nucleus accumbens | UBERON:0001882 | 87.12 | gold quality |
| prostate gland | UBERON:0002367 | 86.39 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 86.29 | gold quality |
| embryo | UBERON:0000922 | 85.82 | gold quality |
| pons | UBERON:0000988 | 85.38 | gold quality |
| endothelial cell | CL:0000115 | 85.31 | gold quality |
| pituitary gland | UBERON:0000007 | 85.16 | gold quality |
| caudate nucleus | UBERON:0001873 | 85.05 | gold quality |
| putamen | UBERON:0001874 | 85.03 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 84.44 | gold quality |
| prefrontal cortex | UBERON:0000451 | 84.41 | gold quality |
| seminal vesicle | UBERON:0000998 | 84.32 | gold quality |
| adenohypophysis | UBERON:0002196 | 84.07 | gold quality |
| renal medulla | UBERON:0000362 | 84.04 | gold quality |
| ascending aorta | UBERON:0001496 | 83.94 | gold quality |
| thoracic aorta | UBERON:0001515 | 83.93 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 81.99 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 81.42 | gold quality |
| telencephalon | UBERON:0001893 | 81.05 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 44.45 |
| E-HCAD-5 | yes | 22.34 |
| E-MTAB-7316 | yes | 21.00 |
| E-ANND-3 | yes | 6.31 |
| E-GEOD-100618 | no | 182.73 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F1, ESR1, EWSR1, NR3C2, PAX5, TP53, ZBTB7B
miRNA regulators (miRDB)
92 targeting MPPED2, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
Literature-anchored findings (GeneRIF, showing 6)
- The structures of MPPED2 and two mutants show that the poor activity of MPPED2 is not only a consequence of the substitution of an active-site histidine residue by glycine but also due to binding of AMP or GMP to the active site. (PMID:21824479)
- The overexpression of Mpped2 improves survival rate, substantially impairs tumor growth and induces neuronal differentiation. (PMID:22262177)
- Findings indicate that epigenetic alterations of MPPED2 promoter region appear sequentially during the colorectal neoplastic progression. (PMID:30846004)
- CTN2 (rs6655267) and MPPED2 (rs536007) are not associated with primary dentition caries. MPPED2 (rs11031093, G Allele) is marginally associated. (PMID:32040219)
- MPPED2 is downregulated in glioblastoma, and its restoration inhibits proliferation and increases the sensitivity to temozolomide of glioblastoma cells. (PMID:33734003)
- Association of MPPED2 gene variant rs10767873 with kidney function and risk of cardiovascular disease in patients with hypertension. (PMID:36797372)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mpped2a | ENSDARG00000006889 |
| danio_rerio | mpped2 | ENSDARG00000034443 |
| mus_musculus | Mpped2 | ENSMUSG00000016386 |
| rattus_norvegicus | Mpped2 | ENSRNOG00000004863 |
| drosophila_melanogaster | CG16717 | FBGN0036028 |
| caenorhabditis_elegans | WBGENE00011579 | |
| caenorhabditis_elegans | WBGENE00016101 | |
| caenorhabditis_elegans | WBGENE00019479 |
Paralogs (1): MPPED1 (ENSG00000186732)
Protein
Protein identifiers
Metallophosphoesterase MPPED2 — Q15777 (reviewed: Q15777)
Alternative names: Fetal brain protein 239, Metallophosphoesterase domain-containing protein 2
All UniProt accessions (3): Q15777, E9PQW8, F2Z346
UniProt curated annotations — full annotation on UniProt →
Function. Displays low metallophosphoesterase activity (in vitro). May play a role in the development of the nervous system.
Subunit / interactions. Homodimer.
Tissue specificity. Expressed predominantly in fetal brain.
Activity regulation. Inhibited by nmolar levels of AMP and GMP.
Similarity. Belongs to the UPF0046 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q15777-1 | 1 | yes |
| Q15777-2 | 2 |
RefSeq proteins (7): NP_001138871, NP_001364881, NP_001364882, NP_001364883, NP_001364884, NP_001364885, NP_001575* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004843 | Calcineurin-like_PHP | Domain |
| IPR024201 | Calcineurin-like_Pesterase | Family |
| IPR029052 | Metallo-depent_PP-like | Homologous_superfamily |
| IPR051693 | UPF0046_metallophosphoest | Family |
Pfam: PF00149
UniProt features (13 total): binding site 10, chain 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q15777-F1 | 95.43 | 0.92 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (10): 65; 254; 67; 86; 86; 117–118; 117; 213; 225–226; 252–255
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 208 (showing top):
SHEPARD_BMYB_MORPHOLINO_UP, LEE_NEURAL_CREST_STEM_CELL_DN, YAATNRNNNYNATT_UNKNOWN, GCANCTGNY_MYOD_Q6, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOZGIT_ESR1_TARGETS_DN, TGACCTY_ERR1_Q2, AAAYRNCTG_UNKNOWN, CAGCTG_AP4_Q5, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, MARTORIATI_MDM4_TARGETS_NEUROEPITHELIUM_DN, AGTCTTA_MIR499, CEBP_Q2, MORF_ZNF10, SETLUR_PROSTATE_CANCER_TMPRSS2_ERG_FUSION_DN
GO Biological Process (0):
GO Molecular Function (8): phosphoric diester hydrolase activity (GO:0008081), AMP binding (GO:0016208), GMP binding (GO:0019002), manganese ion binding (GO:0030145), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)
GO Cellular Component (0):
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| anion binding | 2 |
| cation binding | 2 |
| phosphoric ester hydrolase activity | 1 |
| adenyl ribonucleotide binding | 1 |
| guanyl ribonucleotide binding | 1 |
| transition metal ion binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
Protein interactions and networks
STRING
680 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MPPED2 | DCDC1 | P59894 | 905 |
| MPPED2 | DNAJC24 | Q6P3W2 | 888 |
| MPPED2 | IMMP1L | Q96LU5 | 872 |
| MPPED2 | ELP4 | Q96EB1 | 855 |
| MPPED2 | FSHB | P01225 | 707 |
| MPPED2 | PAX6 | P26367 | 699 |
| MPPED2 | KRT12 | Q99456 | 497 |
| MPPED2 | D6RI10 | D6RI10 | 454 |
| MPPED2 | TBC1D30 | Q9Y2I9 | 429 |
| MPPED2 | EDARADD | Q8WWZ3 | 417 |
| MPPED2 | ARL14EP | Q8N8R7 | 397 |
| MPPED2 | WT1 | P19544 | 372 |
| MPPED2 | CCDC187 | A0A096LP49 | 371 |
| MPPED2 | AJAP1 | Q9UKB5 | 370 |
| MPPED2 | GPR149 | Q86SP6 | 367 |
IntAct
55 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MPPED2 | TRIP13 | psi-mi:“MI:0915”(physical association) | 0.790 |
| TRIP13 | MPPED2 | psi-mi:“MI:0915”(physical association) | 0.790 |
| NCKAP1 | YWHAH | psi-mi:“MI:0914”(association) | 0.730 |
| RXRG | MPPED2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| VAC14 | MPPED2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MPPED2 | RXRG | psi-mi:“MI:0915”(physical association) | 0.720 |
| FAM72A | MPPED2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MPPED2 | CAGE1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CAGE1 | MPPED2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MPPED2 | FAM72A | psi-mi:“MI:0915”(physical association) | 0.560 |
| MPPED2 | HOOK2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MPPED2 | NUP93 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MPPED2 | RIBC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MPPED2 | POMP | psi-mi:“MI:0915”(physical association) | 0.560 |
| MPPED2 | MBD3L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MPPED2 | BEX4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MPPED2 | NR2F6 | psi-mi:“MI:0914”(association) | 0.530 |
| MPPED2 | IKZF1 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (31): RXRG (Two-hybrid), TRIP13 (Two-hybrid), VAC14 (Two-hybrid), CAGE1 (Two-hybrid), FAM72A (Two-hybrid), MPPED2 (Reconstituted Complex), NR2F6 (Affinity Capture-MS), MPPED2 (Affinity Capture-MS), MPPED2 (Two-hybrid), TRIP13 (Two-hybrid), NR2F6 (Affinity Capture-MS), SULT1A3 (Affinity Capture-MS), TRIP13 (Two-hybrid), HOOK2 (Two-hybrid), BEX4 (Two-hybrid)
ESM2 similar proteins: A0A067XMV3, A0A179HLJ8, A0A1L9WLF1, A0A2I1C3U0, A0A411PQM3, A0A4P8DJU1, A0A4V1E8I5, A0A5B8YUX5, A0A7R7ZLL0, A1D8J2, A2QX23, B1WBP0, C3K630, C5FM60, D4CZZ5, D7PHZ3, D7PHZ8, E1ACR1, E4V2N5, F2PWS8, F2S702, F2T0M3, G3KLH5, K3VFR8, M1WCF7, M3ANL0, P0CM88, P0CM89, P0CU68, P25170, P9WEG2, Q0CCY4, Q0CJ62, Q0CS61, Q0CS91, Q15777, Q26547, Q4W945, Q4WA58, Q4WAZ0
Diamond homologs: B1WBP0, O15442, Q15777, Q18161, Q21268, Q22306, Q5B5P1, Q5REB1, Q91ZG2, Q9CZJ0, A1D144, A5ABH4, B0XPA2, B8N5T6, Q0C7K7, Q2U5P7, Q2UDJ8, Q4WR79, Q5AZ85
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
25 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 14 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2180 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:30414222:TCTTA:T | donor_loss | 1.0000 |
| 11:30414223:CTTA:C | donor_loss | 1.0000 |
| 11:30414224:TTACC:T | donor_loss | 1.0000 |
| 11:30414225:TAC:T | donor_loss | 1.0000 |
| 11:30414226:A:C | donor_loss | 1.0000 |
| 11:30414227:C:A | donor_loss | 1.0000 |
| 11:30423991:T:TA | donor_gain | 1.0000 |
| 11:30495294:A:AC | donor_gain | 1.0000 |
| 11:30495295:C:CC | donor_gain | 1.0000 |
| 11:30495295:CCAAG:C | donor_gain | 1.0000 |
| 11:30495517:GTTTC:G | acceptor_gain | 1.0000 |
| 11:30495518:TTTC:T | acceptor_gain | 1.0000 |
| 11:30495519:TTC:T | acceptor_gain | 1.0000 |
| 11:30495520:TC:T | acceptor_gain | 1.0000 |
| 11:30495520:TCC:T | acceptor_loss | 1.0000 |
| 11:30495521:CC:C | acceptor_gain | 1.0000 |
| 11:30495522:C:CC | acceptor_gain | 1.0000 |
| 11:30580244:A:AC | donor_gain | 1.0000 |
| 11:30580245:C:CA | donor_gain | 1.0000 |
| 11:30580245:CA:C | donor_gain | 1.0000 |
| 11:30580245:CAT:C | donor_gain | 1.0000 |
| 11:30580245:CATA:C | donor_gain | 1.0000 |
| 11:30411438:C:A | donor_gain | 0.9900 |
| 11:30414341:CCTA:C | acceptor_loss | 0.9900 |
| 11:30414343:T:G | acceptor_loss | 0.9900 |
| 11:30423992:C:A | donor_gain | 0.9900 |
| 11:30442868:A:C | donor_gain | 0.9900 |
| 11:30488565:A:AC | donor_gain | 0.9900 |
| 11:30488566:C:CC | donor_gain | 0.9900 |
| 11:30495294:AC:A | donor_gain | 0.9900 |
AlphaMissense
1938 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:30417572:A:G | W200R | 0.999 |
| 11:30417572:A:T | W200R | 0.999 |
| 11:30417606:A:C | F188L | 0.999 |
| 11:30417606:A:T | F188L | 0.999 |
| 11:30417608:A:G | F188L | 0.999 |
| 11:30536072:C:A | G78W | 0.999 |
| 11:30536122:A:T | V61D | 0.999 |
| 11:30580296:G:C | F26L | 0.999 |
| 11:30580296:G:T | F26L | 0.999 |
| 11:30580298:A:G | F26L | 0.999 |
| 11:30411541:G:C | S271W | 0.998 |
| 11:30414332:T:A | D221V | 0.998 |
| 11:30414333:C:G | D221H | 0.998 |
| 11:30495305:C:T | G176D | 0.998 |
| 11:30495486:C:A | G116W | 0.998 |
| 11:30495488:G:T | A115D | 0.998 |
| 11:30536032:C:T | G91E | 0.998 |
| 11:30536033:C:G | G91R | 0.998 |
| 11:30536033:C:T | G91R | 0.998 |
| 11:30536128:C:G | R59P | 0.998 |
| 11:30411546:A:C | N269K | 0.997 |
| 11:30411546:A:T | N269K | 0.997 |
| 11:30414260:G:T | P245H | 0.997 |
| 11:30414278:A:T | V239D | 0.997 |
| 11:30414290:A:G | L235P | 0.997 |
| 11:30414303:C:G | G231R | 0.997 |
| 11:30414332:T:G | D221A | 0.997 |
| 11:30417541:A:G | L210P | 0.997 |
| 11:30417614:A:G | W186R | 0.997 |
| 11:30417614:A:T | W186R | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000036617 (11:30402018 C>T), RS1000064042 (11:30526016 T>C), RS1000078325 (11:30464022 A>G), RS1000093482 (11:30567734 C>T), RS1000094070 (11:30463645 C>G), RS1000098552 (11:30482764 T>C), RS1000107496 (11:30546778 G>A,C), RS1000120667 (11:30447660 C>A,T), RS1000129689 (11:30505977 A>G), RS1000168300 (11:30513107 T>C), RS1000172656 (11:30574335 T>A), RS1000178475 (11:30532317 G>A,T), RS1000181056 (11:30415932 T>C), RS1000194963 (11:30457015 G>A,T), RS1000229572 (11:30447235 C>A)
Disease associations
OMIM: gene MIM:600911 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
40 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001244_1 | Dental caries | 8.000000e-06 |
| GCST001466_1 | Chronic kidney disease | 8.000000e-18 |
| GCST001606_1 | Renal function-related traits (sCR) | 3.000000e-09 |
| GCST001607_2 | Renal function-related traits (eGRFcrea) | 1.000000e-09 |
| GCST002358_14 | Pit-and-Fissure caries | 7.000000e-06 |
| GCST003372_24 | Glomerular filtration rate (creatinine) | 6.000000e-18 |
| GCST003374_8 | Chronic kidney disease | 9.000000e-08 |
| GCST003401_37 | Glomerular filtration rate in non diabetics (creatinine) | 5.000000e-16 |
| GCST003720_12 | Migraine | 4.000000e-08 |
| GCST003790_23 | Glomerular filtration rate | 4.000000e-09 |
| GCST003831_23 | Asthma | 9.000000e-07 |
| GCST004292_27 | Glomerular filtration rate (creatinine) | 2.000000e-16 |
| GCST005983_38 | Serum uric acid levels | 1.000000e-08 |
| GCST005984_34 | Glomerular filtration rate | 8.000000e-22 |
| GCST005985_52 | Creatinine levels | 3.000000e-21 |
| GCST005986_38 | Blood urea nitrogen levels | 2.000000e-26 |
| GCST006041_20 | Major depressive disorder | 8.000000e-08 |
| GCST006291_22 | Spherical equivalent or myopia (age of diagnosis) | 4.000000e-08 |
| GCST007267_120 | Systolic blood pressure | 1.000000e-10 |
| GCST007324_78 | Adventurousness | 3.000000e-09 |
| GCST007329_35 | Automobile speeding propensity | 1.000000e-14 |
| GCST007344_19 | Estimated glomerular filtration rate | 9.000000e-36 |
| GCST007344_65 | Estimated glomerular filtration rate | 5.000000e-07 |
| GCST007565_37 | Morning person | 2.000000e-14 |
| GCST007576_84 | Chronotype | 2.000000e-14 |
| GCST007725_18 | Serum uric acid levels | 8.000000e-10 |
| GCST007733_31 | Serum uric acid levels | 8.000000e-07 |
| GCST007876_27 | Estimated glomerular filtration rate | 2.000000e-43 |
| GCST007928_38 | Medication use (diuretics) | 4.000000e-08 |
| GCST008971_43 | Urate levels | 6.000000e-08 |
EFO canonical traits (13, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004761 | uric acid measurement |
| EFO:0004847 | age at onset |
| EFO:0006335 | systolic blood pressure |
| EFO:0008579 | risk-taking behaviour |
| EFO:0008328 | chronotype measurement |
| EFO:0009928 | Diuretic use measurement |
| EFO:0004531 | urate measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004615 | apolipoprotein B measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0004462 | PR interval |
| EFO:0004980 | appendicular lean mass |
| EFO:0008039 | BMI-adjusted hip circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, affects expression, decreases expression, decreases methylation | 5 |
| Estradiol | decreases reaction, increases expression, affects cotreatment, decreases expression | 4 |
| methylmercuric chloride | decreases expression | 3 |
| sodium arsenite | affects methylation, decreases expression | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| belinostat | decreases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, decreases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| Nickel | decreases expression | 2 |
| Tretinoin | increases expression | 2 |
| aflatoxin B2 | increases methylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Coumestrol | increases expression, affects cotreatment | 1 |
| Doxorubicin | decreases expression | 1 |
| Rotenone | decreases expression | 1 |
| Tamoxifen | affects cotreatment, decreases expression | 1 |
| Tetrachlorodibenzodioxin | affects cotreatment, decreases expression, increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Raloxifene Hydrochloride | affects cotreatment, decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
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): chronic kidney disease, dental caries, major depressive disorder, migraine disorder, pit and fissure surface dental caries, refractive error