RPF2
gene geneOn this page
Also known as FLJ21087bA397G5.4
Summary
RPF2 (ribosome production factor 2 homolog, HGNC:20870) is a protein-coding gene on chromosome 6q21, encoding Ribosome production factor 2 homolog (Q9H7B2). Involved in ribosomal large subunit assembly. It is a common-essential gene (DepMap: required in 98.1% of cancer cell lines).
Enables 5S rRNA binding activity. Involved in protein localization to nucleolus; regulation of signal transduction by p53 class mediator; and ribosomal large subunit biogenesis. Located in chromosome; nucleolus; and nucleoplasm.
Source: NCBI Gene 84154 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 63 total
- Cancer dependency (DepMap): dependent in 98.1% of screened cell lines (common-essential)
- MANE Select transcript:
NM_032194
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20870 |
| Approved symbol | RPF2 |
| Name | ribosome production factor 2 homolog |
| Location | 6q21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ21087, bA397G5.4 |
| Ensembl gene | ENSG00000197498 |
| Ensembl biotype | protein_coding |
| OMIM | 618471 |
| Entrez | 84154 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 9 protein_coding, 2 nonsense_mediated_decay
ENST00000368864, ENST00000425871, ENST00000441448, ENST00000607388, ENST00000885102, ENST00000885103, ENST00000885104, ENST00000923612, ENST00000923613, ENST00000923614, ENST00000923615
RefSeq mRNA: 2 — MANE Select: NM_032194
NM_001289111, NM_032194
CCDS: CCDS5088
Canonical transcript exons
ENST00000441448 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001019312 | 110989028 | 110989065 |
| ENSE00001841675 | 111025403 | 111028263 |
| ENSE00003695201 | 111015754 | 111015856 |
| ENSE00003697466 | 110999711 | 110999787 |
| ENSE00003697855 | 110997183 | 110997264 |
| ENSE00003698761 | 110991747 | 110991786 |
| ENSE00003699829 | 111008038 | 111008137 |
| ENSE00003701898 | 110985006 | 110985138 |
| ENSE00003787476 | 111024183 | 111024327 |
| ENSE00003848306 | 110982038 | 110982129 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 96.15.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 44.8421 / max 1905.7424, expressed in 1808 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 69270 | 44.2916 | 1807 |
| 69269 | 0.5505 | 302 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibialis anterior | UBERON:0001385 | 96.15 | silver quality |
| deltoid | UBERON:0001476 | 95.77 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 95.26 | gold quality |
| sperm | CL:0000019 | 94.99 | gold quality |
| cartilage tissue | UBERON:0002418 | 94.95 | gold quality |
| myocardium | UBERON:0002349 | 94.48 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 94.35 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 94.35 | gold quality |
| upper arm skin | UBERON:0004263 | 93.98 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 93.70 | gold quality |
| tendon | UBERON:0000043 | 92.75 | gold quality |
| gingival epithelium | UBERON:0001949 | 92.74 | gold quality |
| quadriceps femoris | UBERON:0001377 | 92.49 | gold quality |
| tibia | UBERON:0000979 | 92.44 | gold quality |
| biceps brachii | UBERON:0001507 | 92.41 | gold quality |
| endometrium | UBERON:0001295 | 92.34 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 92.34 | gold quality |
| parietal pleura | UBERON:0002400 | 92.27 | gold quality |
| gingiva | UBERON:0001828 | 92.26 | gold quality |
| vastus lateralis | UBERON:0001379 | 92.06 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 91.66 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.65 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 91.47 | gold quality |
| islet of Langerhans | UBERON:0000006 | 91.46 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 91.35 | gold quality |
| muscle tissue | UBERON:0002385 | 91.30 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 91.29 | gold quality |
| oviduct epithelium | UBERON:0004804 | 91.03 | gold quality |
| cauda epididymis | UBERON:0004360 | 90.82 | gold quality |
| pancreas | UBERON:0001264 | 90.79 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-93593 | yes | 8.93 |
| E-CURD-112 | yes | 8.09 |
| E-MTAB-6142 | no | 277.84 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
103 targeting RPF2, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-6755-5P | 99.95 | 65.59 | 464 |
| HSA-MIR-6772-5P | 99.94 | 67.01 | 577 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 98.1% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 2)
- BXDC1 and EBNA1BP2 function in a dynamic scaffold for ribosome biogenesis. (PMID:19170763)
- Clinical significance of ribosome production factor 2 homolog in hepatocellular carcinoma. (PMID:38307254)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rpf2 | ENSDARG00000043960 |
| mus_musculus | Rpf2 | ENSMUSG00000038510 |
| rattus_norvegicus | Rpf2 | ENSRNOG00000000587 |
| drosophila_melanogaster | Non3 | FBGN0038585 |
| caenorhabditis_elegans | Y54E10A.10 | WBGENE00021830 |
Protein
Protein identifiers
Ribosome production factor 2 homolog — Q9H7B2 (reviewed: Q9H7B2)
Alternative names: Brix domain-containing protein 1, Ribosome biogenesis protein RPF2 homolog
All UniProt accessions (4): Q9H7B2, Q5VXM9, Q5VXN0, U3KQN5
UniProt curated annotations — full annotation on UniProt →
Function. Involved in ribosomal large subunit assembly. May regulate the localization of the 5S RNP/5S ribonucleoprotein particle to the nucleolus.
Subunit / interactions. Component of a hexameric 5S RNP precursor complex, composed of 5S RNA, RRS1, RPF2/BXDC1, RPL5, RPL11 and HEATR3; this complex acts as a precursor for ribosome assembly.
Subcellular location. Nucleus. Nucleolus.
Similarity. Belongs to the RPF2 family.
RefSeq proteins (2): NP_001276040, NP_115570* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007109 | Brix | Domain |
| IPR039770 | Rpf2 | Family |
Pfam: PF04427
UniProt features (8 total): compositionally biased region 2, sequence variant 2, chain 1, domain 1, region of interest 1, sequence conflict 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8RL2 | ELECTRON MICROSCOPY | 2.84 |
| 8FL0 | ELECTRON MICROSCOPY | 2.91 |
| 9QIW | ELECTRON MICROSCOPY | 3.04 |
| 8IR1 | ELECTRON MICROSCOPY | 3.3 |
| 8IR3 | ELECTRON MICROSCOPY | 3.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H7B2-F1 | 90.67 | 0.76 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 140 (showing top):
GOBP_RIBOSOME_BIOGENESIS, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_RIBOSOME_ASSEMBLY, GOBP_RIBOSOMAL_LARGE_SUBUNIT_ASSEMBLY, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_MATURATION_OF_LSU_RRNA, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, GOBP_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_REGULATION_OF_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOBP_RIBOSOMAL_LARGE_SUBUNIT_BIOGENESIS
GO Biological Process (8): ribosomal large subunit assembly (GO:0000027), maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000463), ribosomal large subunit biogenesis (GO:0042273), regulation of signal transduction by p53 class mediator (GO:1901796), protein localization to nucleolus (GO:1902570), maturation of LSU-rRNA (GO:0000470), rRNA processing (GO:0006364), ribosome biogenesis (GO:0042254)
GO Molecular Function (4): RNA binding (GO:0003723), 5S rRNA binding (GO:0008097), rRNA binding (GO:0019843), protein binding (GO:0005515)
GO Cellular Component (4): nucleoplasm (GO:0005654), chromosome (GO:0005694), nucleolus (GO:0005730), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ribosomal large subunit biogenesis | 2 |
| ribonucleoprotein complex biogenesis | 2 |
| ribosome biogenesis | 2 |
| nuclear lumen | 2 |
| intracellular membraneless organelle | 2 |
| protein-RNA complex assembly | 1 |
| ribosome assembly | 1 |
| maturation of LSU-rRNA | 1 |
| signal transduction by p53 class mediator | 1 |
| regulation of intracellular signal transduction | 1 |
| protein localization to nucleus | 1 |
| rRNA processing | 1 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| nucleic acid binding | 1 |
| rRNA binding | 1 |
| RNA binding | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
3150 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RPF2 | RRS1 | Q15050 | 984 |
| RPF2 | RPL11 | P25121 | 920 |
| RPF2 | NSA2 | O95478 | 900 |
| RPF2 | GNL2 | Q13823 | 899 |
| RPF2 | RPL5 | P46777 | 884 |
| RPF2 | EBNA1BP2 | Q99848 | 867 |
| RPF2 | MRTO4 | Q9UKD2 | 827 |
| RPF2 | GTPBP4 | Q9BZE4 | 824 |
| RPF2 | RSL24D1 | Q9UHA3 | 810 |
| RPF2 | NIP7 | Q9Y221 | 794 |
| RPF2 | WDR12 | Q9GZL7 | 772 |
| RPF2 | MDN1 | Q9NU22 | 766 |
| RPF2 | PAK1IP1 | Q9NWT1 | 740 |
| RPF2 | NMD3 | Q96D46 | 725 |
| RPF2 | PDCD11 | Q14690 | 718 |
IntAct
206 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SART3 | PRPF4 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| RPF2 | RRS1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| RPL14 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| H1-1 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| NOP53 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| MECP2 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| RBM34 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| DLG2 | RPF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPL28 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.560 |
| NSA2 | TYW5 | psi-mi:“MI:0914”(association) | 0.530 |
| MECP2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| H1-6 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM34 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RRP8 | NVL | 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 |
| RPL18 | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| MACROH2A2 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| PRR11 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| MAK16 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| KNOP1 | DHX15 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL30 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| ZBTB48 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| PDGFB | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (304): RPF2 (Affinity Capture-RNA), RPF2 (Affinity Capture-MS), RPF2 (Affinity Capture-MS), RPF2 (Affinity Capture-MS), RPF2 (Affinity Capture-MS), RPF2 (Affinity Capture-MS), RPF2 (Affinity Capture-MS), RPF2 (Affinity Capture-MS), RPF2 (Affinity Capture-MS), RPF2 (Affinity Capture-MS), RPF2 (Affinity Capture-MS), RPF2 (Affinity Capture-MS), RPF2 (Affinity Capture-MS), RPF2 (Affinity Capture-MS), KIAA0020 (Co-fractionation)
ESM2 similar proteins: A0A5F9D2E6, A1XQU3, O13784, O42387, O43395, O59865, P02377, P12001, P16149, P21533, P35980, P47911, P62847, P62848, P62849, P62850, P69090, P69091, P82915, Q2HJ41, Q2KIA6, Q2YDN6, Q2YGT9, Q3T0U2, Q4R5H5, Q56JU9, Q58DQ3, Q5E973, Q5EAV6, Q5R5F1, Q5RAQ8, Q5REY4, Q5XGS8, Q5ZJ85, Q6Y263, Q8LC83, Q90YQ0, Q90YU3, Q922U1, Q943Z6
Diamond homologs: G0SF80, P36160, Q2YDN6, Q54DJ0, Q9AWM9, Q9H7B2, Q9JJ80, Q9LUG5, Q9N3F0, Q9UUG1, Q9VEB3
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 187 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 |
|---|---|---|---|
| Peptide chain elongation | 19 | 21.1× | 2e-18 |
| Viral mRNA Translation | 19 | 21.1× | 2e-18 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 19 | 20.9× | 2e-18 |
| Selenocysteine synthesis | 19 | 20.0× | 4e-18 |
| Eukaryotic Translation Termination | 19 | 20.0× | 4e-18 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 19 | 19.6× | 4e-18 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 19 | 19.6× | 4e-18 |
| Formation of a pool of free 40S subunits | 19 | 18.7× | 8e-18 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 19 | 20.8× | 3e-17 |
| ribosomal large subunit biogenesis | 7 | 18.4× | 1e-05 |
| rRNA processing | 16 | 13.4× | 2e-11 |
| translation | 21 | 12.8× | 6e-15 |
| ribosomal small subunit biogenesis | 9 | 12.1× | 9e-06 |
| negative regulation of translation | 10 | 11.6× | 3e-06 |
| negative regulation of viral genome replication | 5 | 11.1× | 4e-03 |
| RNA processing | 8 | 10.4× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
63 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 46 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1719 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:110982125:GTAGT:G | donor_gain | 1.0000 |
| 6:110982126:TAGT:T | donor_gain | 1.0000 |
| 6:110982128:GT:G | donor_gain | 1.0000 |
| 6:110982129:TGTA:T | donor_loss | 1.0000 |
| 6:110982130:G:GG | donor_gain | 1.0000 |
| 6:110982130:GT:G | donor_loss | 1.0000 |
| 6:110982131:T:A | donor_loss | 1.0000 |
| 6:110984999:T:TA | acceptor_gain | 1.0000 |
| 6:110985004:A:AG | acceptor_gain | 1.0000 |
| 6:110985005:G:GG | acceptor_gain | 1.0000 |
| 6:110985005:GA:G | acceptor_gain | 1.0000 |
| 6:110985005:GAA:G | acceptor_gain | 1.0000 |
| 6:110985005:GAAA:G | acceptor_gain | 1.0000 |
| 6:110985134:ATGTG:A | donor_gain | 1.0000 |
| 6:110985135:TGTG:T | donor_gain | 1.0000 |
| 6:110985135:TGTGG:T | donor_loss | 1.0000 |
| 6:110985136:GTG:G | donor_gain | 1.0000 |
| 6:110985136:GTGG:G | donor_gain | 1.0000 |
| 6:110985137:TGGT:T | donor_gain | 1.0000 |
| 6:110985138:GGTA:G | donor_gain | 1.0000 |
| 6:110985139:G:C | donor_loss | 1.0000 |
| 6:110985139:G:GG | donor_gain | 1.0000 |
| 6:110989066:G:GG | donor_gain | 1.0000 |
| 6:110991785:TGG:T | donor_loss | 1.0000 |
| 6:110997262:TAGG:T | donor_loss | 1.0000 |
| 6:110997264:GGTA:G | donor_loss | 1.0000 |
| 6:110997265:G:C | donor_loss | 1.0000 |
| 6:110997266:T:A | donor_loss | 1.0000 |
| 6:110999705:TTCCA:T | acceptor_loss | 1.0000 |
| 6:110999706:TCCA:T | acceptor_loss | 1.0000 |
AlphaMissense
2020 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:111024266:G:C | R227T | 1.000 |
| 6:111024266:G:T | R227M | 1.000 |
| 6:110991764:C:A | P71H | 0.999 |
| 6:110997226:G:A | G93D | 0.999 |
| 6:110997244:G:C | R99P | 0.999 |
| 6:110997264:G:C | G106R | 0.999 |
| 6:110999711:G:A | G106D | 0.999 |
| 6:110999714:G:C | R107P | 0.999 |
| 6:111015847:G:C | R196P | 0.999 |
| 6:111024267:G:C | R227S | 0.999 |
| 6:111024267:G:T | R227S | 0.999 |
| 6:111025452:G:A | G264E | 0.999 |
| 6:111025460:C:G | H267D | 0.999 |
| 6:110985094:G:A | G38R | 0.998 |
| 6:110985094:G:C | G38R | 0.998 |
| 6:110985095:G:A | G38E | 0.998 |
| 6:110991764:C:G | P71R | 0.998 |
| 6:110997225:G:C | G93R | 0.998 |
| 6:110997242:G:C | K98N | 0.998 |
| 6:110997242:G:T | K98N | 0.998 |
| 6:110997254:T:A | N102K | 0.998 |
| 6:110997254:T:G | N102K | 0.998 |
| 6:110997256:T:C | L103P | 0.998 |
| 6:110999735:T:C | L114P | 0.998 |
| 6:111024263:G:T | R226M | 0.998 |
| 6:111024278:C:A | A231E | 0.998 |
| 6:111025420:T:A | N253K | 0.998 |
| 6:111025420:T:G | N253K | 0.998 |
| 6:111025462:T:A | H267Q | 0.998 |
| 6:111025462:T:G | H267Q | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000058466 (6:111025807 C>T), RS1000212519 (6:110990898 TG>T), RS1000235831 (6:111021038 G>A), RS1000236581 (6:110980369 C>A), RS1000266863 (6:111020867 A>C,G), RS1000373976 (6:111015203 G>A), RS1000471709 (6:111020635 T>G), RS1000477761 (6:111003336 G>A,C,T), RS1000495852 (6:111013760 G>T), RS1000606033 (6:111019659 C>T), RS1000648908 (6:110985925 G>C), RS1000669139 (6:111025282 T>C), RS1000683298 (6:110984024 G>C), RS1000745153 (6:111015450 T>C), RS1000804510 (6:110992206 C>T)
Disease associations
OMIM: gene MIM:618471 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006879_15 | Blood metabolite levels | 6.000000e-25 |
| GCST006879_16 | Blood metabolite levels | 5.000000e-08 |
| GCST006879_17 | Blood metabolite levels | 2.000000e-26 |
| GCST006879_23 | Blood metabolite levels | 7.000000e-31 |
| GCST006879_24 | Blood metabolite levels | 3.000000e-25 |
| GCST006879_3 | Blood metabolite levels | 8.000000e-29 |
| GCST006879_4 | Blood metabolite levels | 7.000000e-37 |
| GCST009391_1985 | Metabolite levels | 5.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005058 | tyrosine measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
55 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases abundance, affects expression, decreases expression, affects cotreatment | 3 |
| sodium arsenite | increases abundance, increases expression, decreases expression, affects cotreatment | 3 |
| bisphenol S | decreases methylation, increases expression, affects cotreatment | 3 |
| Air Pollutants | increases expression, decreases expression, increases abundance | 2 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 2 |
| Estradiol | increases expression, affects expression | 2 |
| Tobacco Smoke Pollution | increases expression, affects expression | 2 |
| Tretinoin | decreases expression | 2 |
| Valproic Acid | increases expression, affects expression | 2 |
| Cyclosporine | increases expression | 2 |
| Aflatoxin B1 | affects cotreatment, decreases expression, increases expression | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| ginger extract | affects cotreatment, affects expression, increases abundance | 1 |
| triphenyl phosphate | affects expression | 1 |
| deoxynivalenol | increases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| methylparaben | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| chloropicrin | increases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | increases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| jinfukang | decreases expression, affects cotreatment | 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.