RPL22L1
gene geneOn this page
Summary
RPL22L1 (ribosomal protein L22 like 1, HGNC:27610) is a protein-coding gene on chromosome 3q26.2, encoding Ribosomal protein eL22-like (Q6P5R6). It is a selective cancer dependency (DepMap: 11.6% of cell lines).
Predicted to enable RNA binding activity. Predicted to be a structural constituent of ribosome. Predicted to be involved in cytoplasmic translation. Predicted to be located in ribosome. Predicted to be part of ribonucleoprotein complex.
Source: NCBI Gene 200916 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 32 total
- Cancer dependency (DepMap): dependent in 11.6% of screened cell lines
- MANE Select transcript:
NM_001099645
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:27610 |
| Approved symbol | RPL22L1 |
| Name | ribosomal protein L22 like 1 |
| Location | 3q26.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000163584 |
| Ensembl biotype | protein_coding |
| Entrez | 200916 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 8 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron
ENST00000295830, ENST00000463836, ENST00000466674, ENST00000475836, ENST00000478578, ENST00000494771, ENST00000934973, ENST00000934974, ENST00000934975, ENST00000934976, ENST00000967081
RefSeq mRNA: 2 — MANE Select: NM_001099645
NM_001099645, NM_001320451
CCDS: CCDS46955, CCDS82875
Canonical transcript exons
ENST00000295830 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001076217 | 170868298 | 170868390 |
| ENSE00001076218 | 170864875 | 170866524 |
| ENSE00001076220 | 170868013 | 170868134 |
| ENSE00001655874 | 170870159 | 170870195 |
Expression profiles
Bgee: expression breadth ubiquitous, 251 present calls, max score 98.89.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 94.6942 / max 1120.5912, expressed in 1822 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 45569 | 94.5483 | 1822 |
| 45568 | 0.1459 | 60 |
Top tissues by expression
253 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cartilage tissue | UBERON:0002418 | 98.89 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.23 | gold quality |
| body of pancreas | UBERON:0001150 | 98.16 | gold quality |
| upper arm skin | UBERON:0004263 | 97.90 | gold quality |
| vermiform appendix | UBERON:0001154 | 97.78 | gold quality |
| gingiva | UBERON:0001828 | 97.70 | gold quality |
| gingival epithelium | UBERON:0001949 | 97.60 | gold quality |
| ventricular zone | UBERON:0003053 | 97.48 | gold quality |
| lymph node | UBERON:0000029 | 97.45 | gold quality |
| pancreas | UBERON:0001264 | 97.34 | gold quality |
| spleen | UBERON:0002106 | 97.27 | gold quality |
| skin of abdomen | UBERON:0001416 | 97.19 | gold quality |
| esophagus mucosa | UBERON:0002469 | 97.18 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 97.17 | gold quality |
| bone marrow | UBERON:0002371 | 97.15 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.03 | gold quality |
| left ovary | UBERON:0002119 | 97.02 | gold quality |
| oral cavity | UBERON:0000167 | 97.00 | gold quality |
| monocyte | CL:0000576 | 96.95 | gold quality |
| leukocyte | CL:0000738 | 96.77 | gold quality |
| pericardium | UBERON:0002407 | 96.63 | gold quality |
| mammalian vulva | UBERON:0000997 | 96.52 | gold quality |
| bone marrow cell | CL:0002092 | 96.48 | gold quality |
| right ovary | UBERON:0002118 | 96.40 | gold quality |
| zone of skin | UBERON:0000014 | 96.26 | gold quality |
| left uterine tube | UBERON:0001303 | 96.23 | gold quality |
| omental fat pad | UBERON:0010414 | 96.22 | gold quality |
| peritoneum | UBERON:0002358 | 96.21 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 96.05 | gold quality |
| rectum | UBERON:0001052 | 95.85 | gold quality |
Single-cell (SCXA)
Detected in 13 experiment(s), a significant marker in 11.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7407 | yes | 1110.89 |
| E-CURD-98 | yes | 1077.62 |
| E-HCAD-4 | yes | 142.26 |
| E-HCAD-8 | yes | 47.70 |
| E-HCAD-1 | yes | 45.44 |
| E-CURD-112 | yes | 30.34 |
| E-HCAD-9 | yes | 23.54 |
| E-CURD-122 | yes | 22.24 |
| E-MTAB-10042 | yes | 15.49 |
| E-ANND-3 | yes | 14.44 |
| E-MTAB-8271 | yes | 7.05 |
| E-MTAB-6524 | no | 780.13 |
| E-CURD-11 | no | 94.16 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
73 targeting RPL22L1, 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-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-383-3P | 99.85 | 65.84 | 1359 |
| HSA-MIR-4420 | 99.82 | 70.08 | 1624 |
| HSA-MIR-609 | 99.82 | 64.26 | 505 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-139-5P | 99.80 | 69.50 | 1399 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-498-5P | 99.76 | 69.64 | 1807 |
| HSA-MIR-1976 | 99.74 | 65.48 | 1127 |
| HSA-MIR-8084 | 99.73 | 69.57 | 1760 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 11.6% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- RPL22L1 might be a prognostic marker in colorectal cancer and predict 5-Fluorouracil responsiveness. (PMID:31581233)
- Ribosomal protein L22-like1 promotes prostate cancer progression by activating PI3K/Akt/mTOR signalling pathway. (PMID:36625246)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rpl22l1 | ENSDARG00000010244 |
| mus_musculus | Rpl22l1 | ENSMUSG00000039221 |
| rattus_norvegicus | Rpl22l3 | ENSRNOG00000033819 |
Paralogs (1): RPL22 (ENSG00000116251)
Protein
Protein identifiers
Ribosomal protein eL22-like — Q6P5R6 (reviewed: Q6P5R6)
Alternative names: 60S ribosomal protein L22-like 1, Large ribosomal subunit protein eL22-like 1
All UniProt accessions (5): C9JYQ9, Q6P5R6, F8WDK8, H0Y8C2, Q5JWX6
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the eukaryotic ribosomal protein eL22 family.
RefSeq proteins (2): NP_001093115, NP_001307380 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002671 | Ribosomal_eL22 | Family |
| IPR038526 | Ribosomal_eL22_sf | Homologous_superfamily |
Pfam: PF01776
UniProt features (5 total): modified residue 3, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6P5R6-F1 | 88.63 | 0.78 |
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 (3): 112, 118, 120
Function
Pathways and Gene Ontology
Reactome pathways
16 pathways
| ID | Pathway |
|---|---|
| R-HSA-156827 | L13a-mediated translational silencing of Ceruloplasmin expression |
| R-HSA-156902 | Peptide chain elongation |
| R-HSA-1799339 | SRP-dependent cotranslational protein targeting to membrane |
| R-HSA-192823 | Viral mRNA Translation |
| R-HSA-2408557 | Selenocysteine synthesis |
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol |
| R-HSA-72689 | Formation of a pool of free 40S subunits |
| R-HSA-72706 | GTP hydrolysis and joining of the 60S ribosomal subunit |
| R-HSA-72764 | Eukaryotic Translation Termination |
| R-HSA-9010553 | Regulation of expression of SLITs and ROBOs |
| R-HSA-9633012 | Response of EIF2AK4 (GCN2) to amino acid deficiency |
| R-HSA-975956 | Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) |
| R-HSA-975957 | Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) |
| R-HSA-9954709 | Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide |
| R-HSA-9954714 | PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA |
| R-HSA-9954716 | ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA |
MSigDB gene sets: 147 (showing top):
GOBP_CYTOPLASMIC_TRANSLATION, HORIUCHI_WTAP_TARGETS_DN, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, KOINUMA_COLON_CANCER_MSI_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, chr3q26, GOBP_TRANSLATION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, FISCHER_DREAM_TARGETS, VIETOR_IFRD1_TARGETS, REACTOME_METABOLISM_OF_RNA, GOCC_RIBOSOME, GOCC_RIBONUCLEOPROTEIN_COMPLEX, RAY_TUMORIGENESIS_BY_ERBB2_CDC25A_UP
GO Biological Process (2): cytoplasmic translation (GO:0002181), translation (GO:0006412)
GO Molecular Function (3): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)
GO Cellular Component (3): cytoplasm (GO:0005737), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-11 pathways:
| Category | Pathways |
|---|---|
| Ribosome-associated quality control | 3 |
| Translation | 2 |
| Cap-dependent Translation Initiation | 2 |
| Nonsense-Mediated Decay (NMD) | 2 |
| Eukaryotic Translation Initiation | 1 |
| Eukaryotic Translation Elongation | 1 |
| Influenza Viral RNA Transcription and Replication | 1 |
| Selenoamino acid metabolism | 1 |
| rRNA processing in the nucleus and cytosol | 1 |
| Signaling by ROBO receptors | 1 |
| Cellular response to starvation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| translation | 1 |
| peptidyltransferase activity | 1 |
| translational initiation | 1 |
| translational elongation | 1 |
| translational termination | 1 |
| macromolecule biosynthetic process | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 1 |
| nucleic acid binding | 1 |
| structural molecule activity | 1 |
| ribosome | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
2203 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RPL22L1 | RPL38 | P23411 | 691 |
| RPL22L1 | RPS14 | P06366 | 687 |
| RPL22L1 | EIF5A2 | Q9GZV4 | 633 |
| RPL22L1 | RPL9 | P32969 | 632 |
| RPL22L1 | RPS27 | P42677 | 618 |
| RPL22L1 | RPS27L | Q71UM5 | 617 |
| RPL22L1 | RPL3L | Q92901 | 575 |
| RPL22L1 | RPL10L | Q96L21 | 573 |
| RPL22L1 | RPS19 | P39019 | 570 |
| RPL22L1 | RPL36AL | Q969Q0 | 566 |
| RPL22L1 | RPL39L | Q96EH5 | 565 |
| RPL22L1 | RPL5 | P46777 | 560 |
| RPL22L1 | RPS9 | P46781 | 535 |
| RPL22L1 | RPS24 | P16632 | 527 |
| RPL22L1 | RPL11 | P25121 | 527 |
IntAct
37 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RPL22L1 | SDCBP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GRB2 | ARHGEF35 | psi-mi:“MI:0914”(association) | 0.530 |
| GIGYF2 | RPL22L1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SDC1 | ILVBL | psi-mi:“MI:0915”(physical association) | 0.400 |
| BRD1 | MRPS14 | psi-mi:“MI:0914”(association) | 0.350 |
| KSR1 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| KSR1 | FAM168B | psi-mi:“MI:0914”(association) | 0.350 |
| KSR1 | psi-mi:“MI:0914”(association) | 0.350 | |
| MAD2L2 | psi-mi:“MI:0914”(association) | 0.350 | |
| CAND1 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| COPS6 | DDX3X | psi-mi:“MI:0914”(association) | 0.350 |
| RPL22L1 | FAAP100 | psi-mi:“MI:0914”(association) | 0.350 |
| USP39 | RRP8 | psi-mi:“MI:0914”(association) | 0.350 |
| G3BP2 | FARS2 | psi-mi:“MI:0914”(association) | 0.350 |
| MAP2K5 | DNAJA2 | psi-mi:“MI:0914”(association) | 0.350 |
| DUSP6 | HSPA8 | psi-mi:“MI:0914”(association) | 0.350 |
| PTPRR | TCP1 | psi-mi:“MI:0914”(association) | 0.350 |
| LCK | CDK1 | psi-mi:“MI:0914”(association) | 0.350 |
| FGFR1 | POLRMT | psi-mi:“MI:0914”(association) | 0.350 |
| ARHGAP36 | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| rep | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| CASP8 | U2SURP | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| Npc1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CALM3 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJB1 | HSPA8 | psi-mi:“MI:0914”(association) | 0.350 |
| DRG1 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| G3BP2 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| ILF3 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (1031): C17orf70 (Affinity Capture-MS), L3HYPDH (Affinity Capture-MS), VMAC (Affinity Capture-MS), MDM2 (Affinity Capture-MS), CCDC85B (Affinity Capture-MS), RPL22L1 (Affinity Capture-MS), RPL22L1 (Affinity Capture-RNA), RPL22L1 (Reconstituted Complex), RPL22L1 (Affinity Capture-MS), RPL22L1 (Affinity Capture-MS), VMAC (Affinity Capture-MS), C17orf70 (Affinity Capture-MS), CCDC85B (Affinity Capture-MS), L3HYPDH (Affinity Capture-MS), RPL22L1 (Affinity Capture-MS)
ESM2 similar proteins: A2YDY2, A4FUH0, G1TG89, G1TSG1, P35268, P42794, P42798, P47198, P48597, P50886, P50894, P52865, P62084, P62244, P62245, P62246, P62495, P62496, P62497, P62498, P67984, P67985, P86048, Q0DK10, Q0VCX5, Q28IL6, Q32L19, Q4R4D3, Q4R5I3, Q5I0R6, Q5NVP9, Q5R4C7, Q5R938, Q5U2Q7, Q6AYU1, Q6P5R6, Q6Q420, Q76I82, Q8BWY3, Q8CJ19
Diamond homologs: A0A1D8PM41, A4FUH0, G1TSG1, P05749, P13732, P35268, P47198, P50886, P50887, P52819, P52865, P56628, P67984, P67985, Q09668, Q23BV5, Q28IL6, Q4R5I3, Q54GK6, Q54JE3, Q5I0R6, Q6P5R6, Q90YU6, Q98TF8, Q9D7S7, Q9FE58, Q9M9W1, Q9SRX7, Q8SS49
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RPL22 | down-regulates | RPL22L1 | |
| RPL22L1 | “form complex” | “60S cytosolic large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 51 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 |
|---|---|---|---|
| PKR-mediated signaling | 6 | 21.7× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
32 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 19 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
261 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:170866520:AATAC:A | acceptor_gain | 1.0000 |
| 3:170866521:ATAC:A | acceptor_gain | 1.0000 |
| 3:170866522:TAC:T | acceptor_gain | 1.0000 |
| 3:170866522:TACC:T | acceptor_loss | 1.0000 |
| 3:170866524:CC:C | acceptor_loss | 1.0000 |
| 3:170866524:CCT:C | acceptor_gain | 1.0000 |
| 3:170866525:C:CC | acceptor_gain | 1.0000 |
| 3:170866526:T:C | acceptor_gain | 1.0000 |
| 3:170866526:T:TC | acceptor_gain | 1.0000 |
| 3:170866527:T:C | acceptor_gain | 1.0000 |
| 3:170866527:T:TC | acceptor_gain | 1.0000 |
| 3:170866528:T:C | acceptor_gain | 1.0000 |
| 3:170866528:T:TC | acceptor_gain | 1.0000 |
| 3:170866533:A:AC | acceptor_gain | 1.0000 |
| 3:170866533:A:C | acceptor_gain | 1.0000 |
| 3:170868009:CAA:C | donor_loss | 1.0000 |
| 3:170868009:CAACC:C | donor_gain | 1.0000 |
| 3:170868010:AAC:A | donor_loss | 1.0000 |
| 3:170868011:A:AC | donor_gain | 1.0000 |
| 3:170868011:ACCT:A | donor_loss | 1.0000 |
| 3:170868012:C:CC | donor_gain | 1.0000 |
| 3:170868130:TGCTC:T | acceptor_gain | 1.0000 |
| 3:170868132:CTC:C | acceptor_gain | 1.0000 |
| 3:170868134:CCTA:C | acceptor_loss | 1.0000 |
| 3:170868135:C:CC | acceptor_gain | 1.0000 |
| 3:170868140:T:C | acceptor_gain | 1.0000 |
| 3:170868140:T:TC | acceptor_gain | 1.0000 |
| 3:170868292:ACTT:A | donor_loss | 1.0000 |
| 3:170868294:TTA:T | donor_loss | 1.0000 |
| 3:170868295:TACAA:T | donor_loss | 1.0000 |
AlphaMissense
810 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:170866422:G:C | F109L | 1.000 |
| 3:170866422:G:T | F109L | 1.000 |
| 3:170866424:A:G | F109L | 1.000 |
| 3:170866427:A:G | Y108H | 1.000 |
| 3:170866468:A:G | L94P | 1.000 |
| 3:170866468:A:T | L94H | 1.000 |
| 3:170866470:C:A | W93C | 1.000 |
| 3:170866470:C:G | W93C | 1.000 |
| 3:170866472:A:G | W93R | 1.000 |
| 3:170866472:A:T | W93R | 1.000 |
| 3:170866495:A:G | L85P | 1.000 |
| 3:170866495:A:T | L85H | 1.000 |
| 3:170866503:C:A | K82N | 1.000 |
| 3:170866503:C:G | K82N | 1.000 |
| 3:170868015:T:A | K74N | 1.000 |
| 3:170868015:T:G | K74N | 1.000 |
| 3:170868324:C:G | D26H | 1.000 |
| 3:170866423:A:G | F109S | 0.999 |
| 3:170866426:T:C | Y108C | 0.999 |
| 3:170866429:C:G | R107P | 0.999 |
| 3:170866432:A:G | L106P | 0.999 |
| 3:170866432:A:T | L106H | 0.999 |
| 3:170866456:G:T | A98E | 0.999 |
| 3:170866459:A:T | V97D | 0.999 |
| 3:170866465:C:G | R95P | 0.999 |
| 3:170866471:C:A | W93L | 0.999 |
| 3:170866471:C:G | W93S | 0.999 |
| 3:170866474:T:A | D92V | 0.999 |
| 3:170866475:C:G | D92H | 0.999 |
| 3:170866478:G:T | R91S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000162312 (3:170868912 G>A), RS1000306499 (3:170865766 C>T), RS1001383133 (3:170869777 C>T), RS1001981338 (3:170867025 T>C), RS1002305825 (3:170868366 A>G,T), RS1002500589 (3:170864643 A>C,T), RS1002768445 (3:170869383 T>C), RS1002802254 (3:170864941 G>A), RS1004263494 (3:170865280 C>T), RS1004631728 (3:170866912 A>G), RS1004740629 (3:170865428 TC>T), RS1005377995 (3:170869780 C>A,T), RS1005934490 (3:170866097 T>A,C), RS1006827383 (3:170870765 T>C), RS1006932843 (3:170870293 G>A,C,T)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression, affects cotreatment | 5 |
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases expression | 5 |
| sodium arsenite | decreases expression | 4 |
| Air Pollutants | increases abundance, increases expression, decreases expression, affects expression | 4 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| entinostat | increases expression, affects cotreatment | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Benzo(a)pyrene | decreases expression | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| deoxynivalenol | decreases expression | 1 |
| lead acetate | increases expression | 1 |
| tris(2-butoxyethyl) phosphate | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | increases reaction, affects binding | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | decreases expression, affects cotreatment | 1 |
| MT19c compound | increases expression | 1 |
| Cadmium | increases expression, increases abundance | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Ivermectin | 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.