RPP25
gene geneOn this page
Also known as FLJ20374
Summary
RPP25 (ribonuclease P/MRP subunit p25, HGNC:30361) is a protein-coding gene on chromosome 15q24.2, encoding Ribonuclease P protein subunit p25 (Q9BUL9). Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5’-ends.
Enables ribonuclease P RNA binding activity. Contributes to ribonuclease P activity. Involved in tRNA 5’-leader removal. Located in centriolar satellite and nucleoplasm. Part of multimeric ribonuclease P complex and ribonuclease MRP complex. Biomarker of autistic disorder.
Source: NCBI Gene 54913 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 2 total
- MANE Select transcript:
NM_017793
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30361 |
| Approved symbol | RPP25 |
| Name | ribonuclease P/MRP subunit p25 |
| Location | 15q24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20374 |
| Ensembl gene | ENSG00000178718 |
| Ensembl biotype | protein_coding |
| OMIM | 619235 |
| Entrez | 54913 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000322177
RefSeq mRNA: 1 — MANE Select: NM_017793
NM_017793
CCDS: CCDS10274
Canonical transcript exons
ENST00000322177 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001243292 | 74954418 | 74956772 |
Expression profiles
Bgee: expression breadth ubiquitous, 257 present calls, max score 95.51.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.5035 / max 113.6586, expressed in 1583 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 150944 | 10.0557 | 1503 |
| 150946 | 1.1336 | 690 |
| 150945 | 0.8448 | 537 |
| 150943 | 0.2108 | 99 |
| 150949 | 0.1275 | 48 |
| 150948 | 0.0929 | 29 |
| 150947 | 0.0381 | 19 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| vena cava | UBERON:0004087 | 95.51 | gold quality |
| parotid gland | UBERON:0001831 | 94.19 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 94.17 | gold quality |
| pons | UBERON:0000988 | 93.63 | gold quality |
| body of tongue | UBERON:0011876 | 92.64 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 92.58 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 92.50 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 92.15 | gold quality |
| cardia of stomach | UBERON:0001162 | 91.76 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 91.48 | gold quality |
| ventral tegmental area | UBERON:0002691 | 91.47 | gold quality |
| pylorus | UBERON:0001166 | 91.46 | gold quality |
| heart right ventricle | UBERON:0002080 | 91.36 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 91.35 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 91.00 | gold quality |
| pericardium | UBERON:0002407 | 90.50 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 90.19 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 89.76 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 89.58 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 89.54 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 89.28 | gold quality |
| tongue | UBERON:0001723 | 89.02 | gold quality |
| saphenous vein | UBERON:0007318 | 88.94 | gold quality |
| superior surface of tongue | UBERON:0007371 | 87.92 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 87.63 | gold quality |
| nipple | UBERON:0002030 | 87.14 | gold quality |
| biceps brachii | UBERON:0001507 | 87.10 | gold quality |
| renal medulla | UBERON:0000362 | 86.78 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 86.73 | gold quality |
| medulla oblongata | UBERON:0001896 | 86.71 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.70 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
44 targeting RPP25, 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-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-6079 | 99.84 | 68.54 | 1170 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-636 | 99.80 | 69.58 | 1500 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-6892-3P | 99.68 | 66.40 | 1178 |
| HSA-MIR-6132 | 99.60 | 65.83 | 1554 |
| HSA-MIR-2113 | 99.58 | 71.22 | 1521 |
| HSA-MIR-4472 | 99.56 | 66.08 | 1478 |
| HSA-MIR-7844-5P | 99.55 | 68.56 | 1428 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-6828-5P | 99.31 | 69.21 | 1433 |
| HSA-MIR-1909-3P | 99.03 | 66.56 | 1662 |
| HSA-MIR-625-5P | 99.02 | 68.64 | 2031 |
| HSA-MIR-4297 | 98.77 | 66.95 | 2013 |
| HSA-MIR-876-3P | 98.76 | 68.23 | 945 |
| HSA-MIR-4483 | 98.09 | 64.12 | 1642 |
Literature-anchored findings (GeneRIF, showing 6)
- analyses of interactions with deletion mutant proteins indicate that the Alba-type core domain of both Rpp20 and Rpp25 contains most of the determinants for mutual association and P3 RNA recognition. (PMID:20215441)
- Taken together, these findings suggest a potential role for the RPP25 gene transcript in the neurobiology of developmental brain disorders. (PMID:20632321)
- Rpp25 is a major target of autoantibodies to the Th/To autoantigen complex (PMID:23587095)
- Study showed the crystal structure of Rpp20/Rpp25 complex, and confirmed that Rpp20 and Rpp25 exhibit similar molecular structures to one another, to their yeast homologs (Pop7 andPop6, respectively), and to archaeal Alba proteins. These proteins do not seem to undergo significant conformational change upon RNA binding, suggesting that they interact with their cognate RNAs via a pre-formed binding surface. (PMID:29625199)
- LINC00319 promotes migration, invasion and epithelial-mesenchymal transition process in cervical cancer by regulating miR-3127-5p/RPP25 axis. (PMID:31942724)
- Crystal structure of human RPP20-RPP25 proteins in complex with the P3 domain of lncRNA RMRP. (PMID:33571640)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rpp25a | ENSDARG00000101536 |
| danio_rerio | rpp25b | ENSDARG00000112256 |
| mus_musculus | Rpp25 | ENSMUSG00000062309 |
| rattus_norvegicus | Rpp25 | ENSRNOG00000018812 |
| drosophila_melanogaster | Rpp25 | FBGN0033092 |
| caenorhabditis_elegans | WBGENE00014020 |
Paralogs (1): RPP25L (ENSG00000164967)
Protein
Protein identifiers
Ribonuclease P protein subunit p25 — Q9BUL9 (reviewed: Q9BUL9)
All UniProt accessions (1): Q9BUL9
UniProt curated annotations — full annotation on UniProt →
Function. Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5’-ends. Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences.
Subunit / interactions. Component of nuclear RNase P and RNase MRP ribonucleoproteins. RNase P consists of a catalytic RNA moiety and 10 different protein chains; POP1, POP4, POP5, POP7, RPP14, RPP21, RPP25, RPP30, RPP38 and RPP40. Within the RNase P complex, POP1, POP7 and RPP25 form the ‘finger’ subcomplex, POP5, RPP14, RPP40 and homodimeric RPP30 form the ‘palm’ subcomplex, and RPP21, POP4 and RPP38 form the ‘wrist’ subcomplex. All subunits of the RNase P complex interact with the catalytic RNA. Several subunits of RNase P are also part of the RNase MRP complex. RNase MRP consists of a catalytic RNA moiety and about 8 protein subunits; POP1, POP7, RPP25, RPP30, RPP38, RPP40 and possibly also POP4 and POP5. POP7 forms a heterodimer with RPP25 that binds to the P3 stem loop of the catalytic RNA.
Subcellular location. Nucleus. Nucleolus.
Similarity. Belongs to the histone-like Alba family.
RefSeq proteins (1): NP_060263* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002775 | DNA/RNA-bd_Alba-like | Domain |
| IPR036882 | Alba-like_dom_sf | Homologous_superfamily |
| IPR051958 | Alba-like_NAB | Family |
Pfam: PF01918
Enzyme classification (BRENDA):
- EC 3.1.26.5 — ribonuclease P (BRENDA: 188 organisms, 407 substrates, 80 inhibitors, 54 Km, 43 kcat entries)
Substrate kinetics (BRENDA)
24 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| HUMAN PRE-TRNATYR | 0.0001–0.0005 | 5 |
| PRE-TRNATYR | — | 5 |
| PRE-TRNAASP | — | 4 |
| PTRNATYR | 0.0002–0.0305 | 4 |
| TRNA PRECURSOR | — | 4 |
| PRE-TRNA-TYR | 0.0001 | 2 |
| PRE-TRNATHR(AGT) | 0.0035–0.05 | 2 |
| RNASE P RIBOSWITCH A | 0.0064–0.0081 | 2 |
| TRNAPHE (G+1) PRECURSOR | — | 2 |
| TRNATYR | — | 2 |
| PMINI3PBUG | 0.0013 | 1 |
| PRE-TRNA | — | 1 |
| PRE-TRNA SUPS1 TRNASER | 0.0002 | 1 |
| PRE-TRNA-ASP | 0.0003 | 1 |
| PRE-TRNA-CYS | 0.0006 | 1 |
UniProt features (18 total): strand 6, helix 3, region of interest 2, compositionally biased region 2, modified residue 2, chain 1, sequence conflict 1, turn 1
Structure
Experimental structures (PDB)
7 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6CWX | X-RAY DIFFRACTION | 2.25 |
| 6LT7 | X-RAY DIFFRACTION | 2.7 |
| 9UH7 | ELECTRON MICROSCOPY | 2.84 |
| 9UH9 | ELECTRON MICROSCOPY | 3.47 |
| 6AHU | ELECTRON MICROSCOPY | 3.66 |
| 6AHR | ELECTRON MICROSCOPY | 3.92 |
| 9UHA | ELECTRON MICROSCOPY | 3.93 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BUL9-F1 | 80.46 | 0.58 |
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 (2): 172, 182
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-6784531 | tRNA processing in the nucleus |
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol |
| R-HSA-72306 | tRNA processing |
| R-HSA-72312 | rRNA processing |
| R-HSA-8868773 | rRNA processing in the nucleus and cytosol |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 125 (showing top):
ELVIDGE_HYPOXIA_DN, GOBP_RIBOSOME_BIOGENESIS, GOMF_ENDONUCLEASE_ACTIVITY, GOMF_RNA_NUCLEASE_ACTIVITY, GOMF_NUCLEASE_ACTIVITY, PEREZ_TP63_TARGETS, GOBP_TRNA_METABOLIC_PROCESS, ADDYA_ERYTHROID_DIFFERENTIATION_BY_HEMIN, CHX10_01, KIM_RESPONSE_TO_TSA_AND_DECITABINE_UP, GOMF_RNA_ENDONUCLEASE_ACTIVITY, HAMAI_APOPTOSIS_VIA_TRAIL_DN, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, HOXA4_Q2, GOBP_TRNA_PROCESSING
GO Biological Process (3): tRNA 5’-leader removal (GO:0001682), rRNA processing (GO:0006364), tRNA processing (GO:0008033)
GO Molecular Function (5): RNA binding (GO:0003723), ribonuclease P RNA binding (GO:0033204), nucleic acid binding (GO:0003676), ribonuclease P activity (GO:0004526), protein binding (GO:0005515)
GO Cellular Component (6): ribonuclease MRP complex (GO:0000172), nucleoplasm (GO:0005654), nucleolus (GO:0005730), multimeric ribonuclease P complex (GO:0030681), centriolar satellite (GO:0034451), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Metabolism of RNA | 2 |
| tRNA processing | 1 |
| rRNA processing in the nucleus and cytosol | 1 |
| rRNA processing | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| binding | 2 |
| nuclear lumen | 2 |
| cellular anatomical structure | 2 |
| tRNA 5’-end processing | 1 |
| rRNA metabolic process | 1 |
| ribosome biogenesis | 1 |
| tRNA metabolic process | 1 |
| nucleic acid binding | 1 |
| RNA binding | 1 |
| tRNA-specific ribonuclease activity | 1 |
| RNA endonuclease activity producing 5’-phosphomonoesters, hydrolytic mechanism | 1 |
| sno(s)RNA-containing ribonucleoprotein complex | 1 |
| endoribonuclease complex | 1 |
| intracellular membraneless organelle | 1 |
| ribonuclease P complex | 1 |
| centrosome | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
628 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RPP25 | RPP38 | P78345 | 998 |
| RPP25 | RPP30 | P78346 | 998 |
| RPP25 | RPP40 | O75818 | 995 |
| RPP25 | POP4 | O95707 | 995 |
| RPP25 | POP5 | Q969H6 | 978 |
| RPP25 | POP7 | O75817 | 773 |
| RPP25 | SCAMP5 | Q8TAC9 | 672 |
| RPP25 | POP1 | Q99575 | 638 |
| RPP25 | QNG1 | Q5T6V5 | 493 |
| RPP25 | MARVELD1 | Q9BSK0 | 472 |
| RPP25 | FAM50A | Q14320 | 431 |
| RPP25 | FAM50B | Q9Y247 | 425 |
| RPP25 | ZC3HAV1L | Q96H79 | 411 |
| RPP25 | RPP21 | Q9H633 | 411 |
| RPP25 | RPS2 | P15880 | 402 |
IntAct
124 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| POP7 | RPP25 | psi-mi:“MI:0915”(physical association) | 0.810 |
| RPP25 | POP7 | psi-mi:“MI:0914”(association) | 0.810 |
| RPP30 | POP7 | psi-mi:“MI:0914”(association) | 0.730 |
| POP1 | RPP25 | psi-mi:“MI:0915”(physical association) | 0.670 |
| POP4 | RPP25 | psi-mi:“MI:0915”(physical association) | 0.670 |
| RPP25 | POP4 | psi-mi:“MI:0915”(physical association) | 0.670 |
| RPP25 | POP5 | psi-mi:“MI:0915”(physical association) | 0.670 |
| RPP25 | RPP14 | psi-mi:“MI:0915”(physical association) | 0.670 |
| C18orf21 | POP7 | psi-mi:“MI:0914”(association) | 0.640 |
| POP4 | POP7 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | NVL | psi-mi:“MI:0914”(association) | 0.610 |
| SAT1 | RPP25 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPP25 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| BANP | RPP25 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LDOC1 | RPP25 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PNMA1 | RPP25 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT15 | RPP25 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SF3B4 | RPP25 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPP25 | PICK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPP25 | BACH2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LRRC73 | RPP25 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DDI1 | RPP25 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RBPMS | RPP25 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPP25 | ABI2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF438 | RPP25 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPP25 | PDLIM7 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (110): RPP25 (Affinity Capture-MS), RPP25 (Affinity Capture-MS), RPP25 (Affinity Capture-MS), POP1 (Affinity Capture-MS), C3orf17 (Affinity Capture-MS), RPP40 (Affinity Capture-MS), POP5 (Affinity Capture-MS), RABL2A (Affinity Capture-MS), RPP38 (Affinity Capture-MS), RPP30 (Affinity Capture-MS), USP13 (Affinity Capture-MS), RPP14 (Affinity Capture-MS), C18orf21 (Affinity Capture-MS), POP7 (Affinity Capture-MS), RPP25 (Affinity Capture-MS)
ESM2 similar proteins: A6H687, A6NKF1, D3ZBP4, D3ZU57, E2RDP2, F1MH07, P0C0K6, P0DPD7, P0DPE1, P11086, Q002B5, Q08DM2, Q28F19, Q2KIR4, Q3V3V9, Q4KM32, Q4VYA0, Q568Y2, Q58CQ5, Q5E9Y5, Q5JR98, Q5JZY3, Q5PPN2, Q5RE82, Q66H85, Q684M2, Q68FW7, Q6F5E8, Q6P9Q4, Q86TL0, Q8BMZ5, Q8BYG9, Q8CDY7, Q8N5L8, Q8N8Q3, Q8TDZ2, Q8TE68, Q8VDP3, Q8WUJ1, Q91WE3
Diamond homologs: Q2KIR4, Q5PPN2, Q8IAX8, Q8N5L8, Q91WE3, Q99JH1, Q9BUL9, Q8IDN4
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RPP25 | “form complex” | “Ribonuclease MRP complex” | binding |
| RPP25 | “form complex” | “Nucleolar ribonuclease P complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 60 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 |
|---|---|---|---|
| tRNA processing | 6 | 51.0× | 2e-07 |
| tRNA processing in the nucleus | 9 | 42.2× | 1e-10 |
| rRNA processing in the nucleus and cytosol | 6 | 23.0× | 2e-05 |
| rRNA processing | 6 | 20.9× | 2e-05 |
| Metabolism of RNA | 9 | 8.9× | 2e-05 |
| Major pathway of rRNA processing in the nucleolus and cytosol | 6 | 8.8× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| rRNA processing | 8 | 20.2× | 1e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
2 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
10 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:74956661:T:C | acceptor_gain | 0.4600 |
| 15:74956660:CT:C | acceptor_gain | 0.4200 |
| 15:74956661:TT:T | acceptor_gain | 0.4200 |
| 15:74956659:CCT:C | acceptor_gain | 0.3400 |
| 15:74956661:T:TC | acceptor_gain | 0.3300 |
| 15:74956672:A:T | acceptor_gain | 0.2700 |
| 15:74956162:T:TG | acceptor_gain | 0.2600 |
| 15:74956657:CGCCT:C | acceptor_gain | 0.2400 |
| 15:74955401:A:T | acceptor_gain | 0.2200 |
| 15:74955898:C:CT | acceptor_gain | 0.2000 |
AlphaMissense
1263 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:74956384:A:G | F67S | 0.999 |
| 15:74956329:C:A | K85N | 0.998 |
| 15:74956329:C:G | K85N | 0.998 |
| 15:74956351:A:T | V78D | 0.998 |
| 15:74956356:T:A | K76N | 0.998 |
| 15:74956356:T:G | K76N | 0.998 |
| 15:74956426:G:T | A53D | 0.997 |
| 15:74956336:A:G | I83T | 0.996 |
| 15:74956174:A:G | I137T | 0.995 |
| 15:74956344:G:C | C80W | 0.995 |
| 15:74956357:T:A | K76I | 0.995 |
| 15:74956358:T:C | K76E | 0.995 |
| 15:74956390:A:T | I65N | 0.995 |
| 15:74956447:A:G | I46T | 0.995 |
| 15:74956174:A:T | I137N | 0.994 |
| 15:74956331:T:C | K85E | 0.993 |
| 15:74956339:T:A | E82V | 0.993 |
| 15:74956345:C:T | C80Y | 0.993 |
| 15:74956346:A:G | C80R | 0.993 |
| 15:74956452:G:C | S44R | 0.993 |
| 15:74956452:G:T | S44R | 0.993 |
| 15:74956454:T:G | S44R | 0.993 |
| 15:74956465:A:T | V40D | 0.993 |
| 15:74956348:G:T | T79K | 0.992 |
| 15:74956378:C:T | G69D | 0.992 |
| 15:74956384:A:C | F67C | 0.992 |
| 15:74956449:C:A | K45N | 0.992 |
| 15:74956449:C:G | K45N | 0.992 |
| 15:74956266:C:A | W106C | 0.991 |
| 15:74956266:C:G | W106C | 0.991 |
dbSNP variants (sampled 300 via entrez): RS1000060058 (15:74954080 C>G), RS1000079190 (15:74958314 C>T), RS1000193348 (15:74958036 T>C), RS1001254326 (15:74957886 A>G), RS1001362948 (15:74955224 G>A), RS1001769015 (15:74957608 C>A,G), RS1003035925 (15:74956736 G>A), RS1003254880 (15:74955803 C>A), RS1003329260 (15:74958077 T>C), RS1003330958 (15:74956865 G>A), RS1003777126 (15:74955370 G>A), RS1003932292 (15:74954044 C>T), RS1004523768 (15:74957535 C>A,G,T), RS1005878794 (15:74957016 G>A), RS1006195929 (15:74956729 G>A,C)
Disease associations
OMIM: gene MIM:619235 | 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 |
|---|---|---|
| GCST006166_88 | Diastolic blood pressure x alcohol consumption interaction (2df test) | 3.000000e-19 |
| GCST006434_67 | Systolic blood pressure x alcohol consumption interaction (2df test) | 2.000000e-12 |
| GCST011365_4 | Myocardial infarction | 4.000000e-08 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004329 | alcohol drinking |
| EFO:0006336 | diastolic blood pressure |
| EFO:0006335 | systolic blood pressure |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 5 |
| sodium arsenite | affects expression, affects methylation, increases expression | 3 |
| entinostat | increases expression, affects cotreatment | 2 |
| Panobinostat | increases expression, affects cotreatment | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Benzo(a)pyrene | increases expression, increases methylation | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| afimoxifene | increases expression, decreases reaction | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| tebuconazole | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment, increases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | decreases expression, increases response to substance | 1 |
| jinfukang | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Arsenic | affects expression | 1 |
| Cytarabine | decreases expression | 1 |
| Diazinon | increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Estrogens | increases expression, decreases reaction | 1 |
| Ribonucleotides | affects binding | 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.