MPHOSPH10
gene geneOn this page
Also known as MPP10MPP10PCT90PPP1R106
Summary
MPHOSPH10 (M-phase phosphoprotein 10, HGNC:7213) is a protein-coding gene on chromosome 2p13.3, encoding U3 small nucleolar ribonucleoprotein protein MPP10 (O00566). Component of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP). It is a common-essential gene (DepMap: required in 96.3% of cancer cell lines).
This gene encodes a protein that is phosphorylated during mitosis. The protein localizes to the nucleolus during interphase and to the chromosomes during M phase. The protein associates with the U3 small nucleolar ribonucleoprotein 60-80S complexes and may be involved in pre-rRNA processing.
Source: NCBI Gene 10199 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 115 total
- Cancer dependency (DepMap): dependent in 96.3% of screened cell lines (common-essential)
- MANE Select transcript:
NM_005791
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7213 |
| Approved symbol | MPHOSPH10 |
| Name | M-phase phosphoprotein 10 |
| Location | 2p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MPP10, MPP10P, CT90, PPP1R106 |
| Ensembl gene | ENSG00000124383 |
| Ensembl biotype | protein_coding |
| OMIM | 605503 |
| Entrez | 10199 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 5 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay
ENST00000244230, ENST00000468427, ENST00000476969, ENST00000493360, ENST00000498451, ENST00000694907, ENST00000695484, ENST00000857231, ENST00000931987
RefSeq mRNA: 1 — MANE Select: NM_005791
NM_005791
CCDS: CCDS1916
Canonical transcript exons
ENST00000244230 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000846576 | 71138490 | 71138631 |
| ENSE00000846577 | 71139795 | 71139862 |
| ENSE00000846578 | 71141232 | 71141369 |
| ENSE00000846579 | 71144428 | 71144538 |
| ENSE00000846581 | 71149223 | 71149453 |
| ENSE00003532216 | 71147999 | 71148106 |
| ENSE00003694963 | 71133948 | 71134105 |
| ENSE00003697000 | 71134626 | 71134797 |
| ENSE00003699874 | 71132898 | 71133576 |
| ENSE00003963953 | 71149866 | 71150101 |
| ENSE00003963958 | 71130634 | 71130754 |
Expression profiles
Bgee: expression breadth ubiquitous, 294 present calls, max score 96.32.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.4122 / max 886.3918, expressed in 1809 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 20881 | 34.1444 | 1802 |
| 20873 | 3.3631 | 1382 |
| 20880 | 0.6712 | 354 |
| 20879 | 0.6085 | 343 |
| 20874 | 0.4424 | 174 |
| 20878 | 0.1253 | 29 |
| 20875 | 0.0268 | 7 |
| 20876 | 0.0168 | 8 |
| 20877 | 0.0137 | 5 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 96.32 | gold quality |
| tendon | UBERON:0000043 | 95.30 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 94.51 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 93.77 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 93.23 | gold quality |
| endometrium | UBERON:0001295 | 93.19 | gold quality |
| cortical plate | UBERON:0005343 | 93.11 | gold quality |
| cervix epithelium | UBERON:0004801 | 92.47 | gold quality |
| squamous epithelium | UBERON:0006914 | 92.06 | gold quality |
| esophagus mucosa | UBERON:0002469 | 92.00 | gold quality |
| oral cavity | UBERON:0000167 | 91.81 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 91.79 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 91.79 | gold quality |
| gluteal muscle | UBERON:0002000 | 91.61 | gold quality |
| pericardium | UBERON:0002407 | 91.61 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 91.58 | gold quality |
| hair follicle | UBERON:0002073 | 91.58 | gold quality |
| gastrocnemius | UBERON:0001388 | 91.54 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.47 | gold quality |
| body of tongue | UBERON:0011876 | 91.42 | gold quality |
| diaphragm | UBERON:0001103 | 91.28 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.19 | gold quality |
| gingival epithelium | UBERON:0001949 | 91.17 | gold quality |
| tongue | UBERON:0001723 | 91.14 | gold quality |
| superior surface of tongue | UBERON:0007371 | 91.09 | gold quality |
| uterus | UBERON:0000995 | 90.98 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 90.96 | gold quality |
| muscle of leg | UBERON:0001383 | 90.87 | gold quality |
| gingiva | UBERON:0001828 | 90.85 | gold quality |
| tibia | UBERON:0000979 | 90.84 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ENAD-17 | no | 284.87 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 96.3% of screened cell lines, common-essential.
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mphosph10 | ENSDARG00000012495 |
| mus_musculus | Mphosph10 | ENSMUSG00000030521 |
| rattus_norvegicus | Mphosph10 | ENSRNOG00000016266 |
| drosophila_melanogaster | CG13097 | FBGN0032051 |
| caenorhabditis_elegans | WBGENE00013544 |
Protein
Protein identifiers
U3 small nucleolar ribonucleoprotein protein MPP10 — O00566 (reviewed: O00566)
Alternative names: M phase phosphoprotein 10
All UniProt accessions (5): A0A8Q3WK70, A0A8Q3WKB6, A0A8Q3WKH7, O00566, U3KQ48
UniProt curated annotations — full annotation on UniProt →
Function. Component of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP). Required for the early cleavages during pre-18S ribosomal RNA processing. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome.
Subunit / interactions. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3. Component of a heterotrimeric complex containing IMP3, IMP4 and MPHOSPH10. Interacts with IMP3 and IMP4.
Subcellular location. Nucleus. Nucleolus. Chromosome.
Post-translational modifications. Phosphorylated in M (mitotic) phase.
Similarity. Belongs to the MPP10 family.
RefSeq proteins (1): NP_005782* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR012173 | Mpp10 | Family |
Pfam: PF04006
UniProt features (49 total): compositionally biased region 14, modified residue 10, coiled-coil region 7, sequence variant 7, cross-link 6, region of interest 4, chain 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7MQA | ELECTRON MICROSCOPY | 2.7 |
| 7MQ8 | ELECTRON MICROSCOPY | 3.6 |
| 7MQ9 | ELECTRON MICROSCOPY | 3.87 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O00566-F1 | 68.97 | 0.19 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (16): 61, 120, 139, 163, 167, 171, 242, 275, 289, 609, 350, 382, 394, 555, 632, 649
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-6790901 | rRNA modification in the nucleus and cytosol |
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol |
| R-HSA-72312 | rRNA processing |
| R-HSA-8868773 | rRNA processing in the nucleus and cytosol |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 151 (showing top):
GOBP_RIBOSOME_BIOGENESIS, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_MATURATION_OF_SSU_RRNA, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, PUJANA_CHEK2_PCC_NETWORK, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GOBP_RNA_SPLICING, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, WESTON_VEGFA_TARGETS, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, WESTON_VEGFA_TARGETS_3HR, REACTOME_METABOLISM_OF_RNA
GO Biological Process (7): RNA splicing, via transesterification reactions (GO:0000375), RNA processing (GO:0006396), RNA splicing (GO:0008380), maturation of SSU-rRNA (GO:0030490), ribosomal small subunit biogenesis (GO:0042274), rRNA processing (GO:0006364), ribosome biogenesis (GO:0042254)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (8): nucleoplasm (GO:0005654), chromosome (GO:0005694), nucleolus (GO:0005730), sno(s)RNA-containing ribonucleoprotein complex (GO:0005732), small-subunit processome (GO:0032040), Mpp10 complex (GO:0034457), nucleus (GO:0005634), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| rRNA processing in the nucleus and cytosol | 2 |
| Metabolism of RNA | 1 |
| rRNA processing | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| ribonucleoprotein complex biogenesis | 2 |
| ribosome biogenesis | 2 |
| nuclear lumen | 2 |
| intracellular membraneless organelle | 2 |
| nucleolus | 2 |
| nuclear protein-containing complex | 2 |
| RNA splicing | 1 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| primary metabolic process | 1 |
| rRNA processing | 1 |
| ribosomal small subunit biogenesis | 1 |
| rRNA metabolic process | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
| ribonucleoprotein complex | 1 |
| preribosome | 1 |
| t-UTP complex | 1 |
| 90S preribosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
2109 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MPHOSPH10 | FBL | P22087 | 834 |
| MPHOSPH10 | PWP2 | Q15269 | 817 |
| MPHOSPH10 | RRP9 | O43818 | 788 |
| MPHOSPH10 | HEATR1 | Q9H583 | 736 |
| MPHOSPH10 | NOP58 | Q9Y2X3 | 735 |
| MPHOSPH10 | COIL | P38432 | 734 |
| MPHOSPH10 | UTP25 | Q68CQ4 | 729 |
| MPHOSPH10 | WDR43 | Q15061 | 709 |
| MPHOSPH10 | WDR75 | Q8IWA0 | 703 |
| MPHOSPH10 | UTP18 | Q9Y5J1 | 673 |
| MPHOSPH10 | BMS1 | Q14692 | 666 |
| MPHOSPH10 | NOP56 | O00567 | 656 |
| MPHOSPH10 | UTP4 | Q969X6 | 654 |
| MPHOSPH10 | UTP6 | Q9NYH9 | 644 |
| MPHOSPH10 | CCNB1 | P14635 | 638 |
IntAct
164 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IMP3 | MPHOSPH10 | psi-mi:“MI:0915”(physical association) | 0.670 |
| IMP3 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.670 |
| rep | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.660 |
| MPHOSPH10 | rep | psi-mi:“MI:0915”(physical association) | 0.660 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| PPP1CA | MPHOSPH10 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| PPP1CA | MPHOSPH10 | psi-mi:“MI:0915”(physical association) | 0.590 |
| MORF4L1 | MPHOSPH10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CTNNA3 | MPHOSPH10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BYSL | MPHOSPH10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MPHOSPH10 | MORF4L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MPHOSPH10 | CTNNA3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MPHOSPH10 | BYSL | psi-mi:“MI:0915”(physical association) | 0.560 |
| IMP4 | MPHOSPH10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FGF3 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| H1-6 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL37A | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS3 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (229): MPHOSPH10 (Affinity Capture-MS), MPHOSPH10 (Affinity Capture-MS), MPHOSPH10 (Affinity Capture-MS), DDX52 (Co-fractionation), DDX56 (Co-fractionation), DKC1 (Co-fractionation), IMP3 (Co-fractionation), IMP4 (Co-fractionation), MPHOSPH10 (Co-fractionation), MPHOSPH10 (Co-fractionation), MPHOSPH10 (Co-fractionation), MPHOSPH10 (Co-fractionation), MPHOSPH10 (Co-fractionation), MPHOSPH10 (Co-fractionation), MPHOSPH10 (Co-fractionation)
ESM2 similar proteins: A0A286Y9D1, C0HKD8, C0HKD9, F4HVZ5, F4IDY7, F4IP06, O00566, O14012, O15541, O48713, O94416, O94667, O94880, P34648, P38326, P55080, P55081, Q05021, Q10580, Q14320, Q15906, Q16U25, Q17QX9, Q28BK4, Q2VPH1, Q4KLV7, Q568K9, Q5E9F6, Q5EA98, Q5R5V9, Q5XIB2, Q62481, Q67ER4, Q6FML0, Q6GNJ8, Q6NXY9, Q754T8, Q7KN79, Q7PYQ5, Q810V0
Diamond homologs: O00566, O13910, Q810V0, Q9FJY5, P47083
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MPHOSPH10 | “up-regulates activity” | IMP3 | binding |
| MPHOSPH10 | “up-regulates activity” | IMP4 | binding |
| MPHOSPH10 | “up-regulates activity” | RPS5 | binding |
| MPHOSPH10 | “up-regulates activity” | UTP3 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 134 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 |
|---|---|---|---|
| Formation of Senescence-Associated Heterochromatin Foci (SAHF) | 5 | 40.5× | 9e-07 |
| Peptide chain elongation | 26 | 39.8× | 8e-34 |
| Viral mRNA Translation | 26 | 39.8× | 8e-34 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 26 | 39.3× | 8e-34 |
| Selenocysteine synthesis | 26 | 37.7× | 2e-33 |
| Eukaryotic Translation Termination | 26 | 37.7× | 2e-33 |
| Eukaryotic Translation Initiation | 10 | 37.2× | 1e-12 |
| Cap-dependent Translation Initiation | 10 | 37.2× | 1e-12 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of DNA recombination | 6 | 55.7× | 6e-08 |
| chromosome condensation | 7 | 48.8× | 7e-09 |
| cytoplasmic translation | 27 | 41.3× | 2e-34 |
| maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 6 | 33.4× | 2e-06 |
| translation | 26 | 22.1× | 2e-25 |
| ribosomal small subunit biogenesis | 11 | 20.7× | 7e-10 |
| rRNA processing | 16 | 18.7× | 5e-14 |
| ribosomal large subunit biogenesis | 5 | 18.3× | 4e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
115 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 86 |
| Likely benign | 9 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1526 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:71130755:G:GG | donor_gain | 1.0000 |
| 2:71133560:G:GT | donor_gain | 1.0000 |
| 2:71133572:TTAAG:T | donor_loss | 1.0000 |
| 2:71133573:TAAG:T | donor_loss | 1.0000 |
| 2:71133574:AAGG:A | donor_loss | 1.0000 |
| 2:71133576:GGTAA:G | donor_loss | 1.0000 |
| 2:71133577:G:C | donor_loss | 1.0000 |
| 2:71133578:T:G | donor_loss | 1.0000 |
| 2:71133941:A:AG | acceptor_gain | 1.0000 |
| 2:71133946:A:AG | acceptor_gain | 1.0000 |
| 2:71133947:G:GT | acceptor_gain | 1.0000 |
| 2:71133947:GT:G | acceptor_gain | 1.0000 |
| 2:71133947:GTC:G | acceptor_gain | 1.0000 |
| 2:71133947:GTCA:G | acceptor_gain | 1.0000 |
| 2:71134086:GAAC:G | donor_gain | 1.0000 |
| 2:71134089:C:CG | donor_gain | 1.0000 |
| 2:71134089:C:G | donor_gain | 1.0000 |
| 2:71134101:GAAAC:G | donor_gain | 1.0000 |
| 2:71134102:AAAC:A | donor_gain | 1.0000 |
| 2:71134103:AAC:A | donor_gain | 1.0000 |
| 2:71134104:AC:A | donor_gain | 1.0000 |
| 2:71134105:CG:C | donor_loss | 1.0000 |
| 2:71134106:G:GG | donor_gain | 1.0000 |
| 2:71134107:TGA:T | donor_loss | 1.0000 |
| 2:71134108:G:GC | donor_loss | 1.0000 |
| 2:71134109:AG:A | donor_loss | 1.0000 |
| 2:71134608:A:G | acceptor_gain | 1.0000 |
| 2:71134621:TGTA:T | acceptor_loss | 1.0000 |
| 2:71134624:A:AG | acceptor_gain | 1.0000 |
| 2:71134624:A:C | acceptor_loss | 1.0000 |
AlphaMissense
4604 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:71138541:T:A | W384R | 0.999 |
| 2:71138541:T:C | W384R | 0.999 |
| 2:71138543:G:C | W384C | 0.999 |
| 2:71138543:G:T | W384C | 0.999 |
| 2:71138576:G:C | R395S | 0.998 |
| 2:71138576:G:T | R395S | 0.998 |
| 2:71138575:G:C | R395T | 0.997 |
| 2:71139850:G:C | R432S | 0.996 |
| 2:71139850:G:T | R432S | 0.996 |
| 2:71138548:T:C | L386P | 0.995 |
| 2:71138586:A:C | S399R | 0.995 |
| 2:71138588:C:A | S399R | 0.995 |
| 2:71138588:C:G | S399R | 0.995 |
| 2:71138590:T:C | L400P | 0.994 |
| 2:71139840:T:A | I429N | 0.994 |
| 2:71139849:G:C | R432T | 0.994 |
| 2:71141235:T:A | W438R | 0.994 |
| 2:71141235:T:C | W438R | 0.994 |
| 2:71139828:T:C | L425P | 0.993 |
| 2:71144501:T:C | L507S | 0.993 |
| 2:71144506:G:C | A509P | 0.993 |
| 2:71139849:G:T | R432M | 0.992 |
| 2:71141329:T:A | L469H | 0.992 |
| 2:71149284:G:C | R576P | 0.992 |
| 2:71138553:G:A | G388R | 0.991 |
| 2:71138553:G:C | G388R | 0.991 |
| 2:71138610:T:C | F407L | 0.991 |
| 2:71138612:T:A | F407L | 0.991 |
| 2:71138612:T:G | F407L | 0.991 |
| 2:71141325:A:C | S468R | 0.991 |
dbSNP variants (sampled 300 via entrez): RS1000154373 (2:71143448 AT>A), RS1000367572 (2:71137330 A>T), RS1000382450 (2:71136841 T>G), RS1000408593 (2:71150340 G>A), RS1000689696 (2:71134003 G>A,C), RS1001026628 (2:71148283 A>T), RS1001042254 (2:71146272 G>A), RS1001225737 (2:71142701 T>C), RS1001278186 (2:71142986 T>C), RS1001346356 (2:71145251 G>A), RS1001370580 (2:71144915 T>A), RS1001566341 (2:71138658 A>C,G,T), RS1002220685 (2:71136536 G>A,C), RS1002319437 (2:71141463 C>A), RS1002360926 (2:71132321 A>G)
Disease associations
OMIM: gene MIM:605503 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005196_203 | Coronary artery disease | 3.000000e-06 |
| GCST009391_1014 | Metabolite levels | 1.000000e-06 |
| GCST009391_1221 | Metabolite levels | 5.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010360 | lysophosphatidylcholine 18:1 measurement |
| EFO:0010421 | triacylglycerol 54:3 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Arsenic | affects methylation, increases abundance, increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | increases abundance, increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| K 7174 | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Atrazine | increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Vitamin E | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Sodium Selenite | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
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.