MSRB1
gene geneOn this page
Also known as SelRSepRSelXSELENOXSELENOR
Summary
MSRB1 (methionine sulfoxide reductase B1, HGNC:14133) is a protein-coding gene on chromosome 16p13.3, encoding Methionine-R-sulfoxide reductase B1 (Q9NZV6). Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine.
The protein encoded by this gene belongs to the methionine-R-sulfoxide reductase B (MsrB) family. Members of this family function as repair enzymes that protect proteins from oxidative stress by catalyzing the reduction of methionine-R-sulfoxides to methionines. This protein is highly expressed in liver and kidney, and is localized to the nucleus and cytosol. It is the only member of the MsrB family that is a selenoprotein, containing a selenocysteine (Sec) residue at its active site. It also has the highest methionine-R-sulfoxide reductase activity compared to other members containing cysteine in place of Sec. Sec is encoded by the UGA codon, which normally signals translation termination. The 3’ UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A pseudogene of this locus has been identified on chromosome 19.
Source: NCBI Gene 51734 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 32 total
- MANE Select transcript:
NM_016332
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14133 |
| Approved symbol | MSRB1 |
| Name | methionine sulfoxide reductase B1 |
| Location | 16p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SelR, SepR, SelX, SELENOX, SELENOR |
| Ensembl gene | ENSG00000198736 |
| Ensembl biotype | protein_coding |
| OMIM | 606216 |
| Entrez | 51734 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 3 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000361871, ENST00000399753, ENST00000473663, ENST00000489198, ENST00000564908
RefSeq mRNA: 3 — MANE Select: NM_016332
NM_001382264, NM_001382265, NM_016332
CCDS: CCDS42100
Canonical transcript exons
ENST00000361871 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001435058 | 1938229 | 1939143 |
| ENSE00002604473 | 1943102 | 1943199 |
| ENSE00003549701 | 1941257 | 1941405 |
| ENSE00003595814 | 1940778 | 1940892 |
Expression profiles
Bgee: expression breadth ubiquitous, 277 present calls, max score 98.98.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.7980 / max 909.1811, expressed in 1806 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 155880 | 20.9909 | 1790 |
| 155881 | 3.0157 | 1560 |
| 155882 | 1.5960 | 831 |
| 155878 | 0.1420 | 27 |
| 155879 | 0.0535 | 21 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| blood | UBERON:0000178 | 98.98 | gold quality |
| right lobe of liver | UBERON:0001114 | 98.15 | gold quality |
| body of pancreas | UBERON:0001150 | 97.74 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 97.47 | gold quality |
| diaphragm | UBERON:0001103 | 97.41 | gold quality |
| monocyte | CL:0000576 | 97.39 | gold quality |
| leukocyte | CL:0000738 | 97.30 | gold quality |
| mononuclear cell | CL:0000842 | 97.25 | gold quality |
| granulocyte | CL:0000094 | 97.12 | gold quality |
| liver | UBERON:0002107 | 97.11 | gold quality |
| bone marrow | UBERON:0002371 | 96.53 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 96.44 | gold quality |
| lower esophagus | UBERON:0013473 | 96.42 | gold quality |
| periodontal ligament | UBERON:0008266 | 96.21 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 96.15 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 96.03 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 95.78 | gold quality |
| bone marrow cell | CL:0002092 | 95.30 | gold quality |
| right coronary artery | UBERON:0001625 | 95.16 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 94.83 | gold quality |
| popliteal artery | UBERON:0002250 | 94.82 | gold quality |
| tibial artery | UBERON:0007610 | 94.79 | gold quality |
| nephron tubule | UBERON:0001231 | 94.62 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 94.45 | gold quality |
| mucosa of stomach | UBERON:0001199 | 94.39 | gold quality |
| saphenous vein | UBERON:0007318 | 94.33 | gold quality |
| body of tongue | UBERON:0011876 | 94.32 | gold quality |
| left coronary artery | UBERON:0001626 | 94.27 | gold quality |
| coronary artery | UBERON:0001621 | 94.03 | gold quality |
| gastrocnemius | UBERON:0001388 | 93.99 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-114530 | yes | 902.27 |
| E-HCAD-10 | yes | 29.73 |
| E-CURD-112 | yes | 18.49 |
| E-MTAB-9067 | yes | 11.21 |
| E-MTAB-9801 | yes | 9.48 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): DNMT1, SP1
miRNA regulators (miRDB)
25 targeting MSRB1, 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-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-12122 | 99.56 | 69.33 | 1672 |
| HSA-MIR-508-5P | 99.41 | 64.25 | 1248 |
| HSA-MIR-4316 | 99.37 | 65.75 | 1360 |
| HSA-MIR-520A-5P | 99.35 | 66.72 | 1632 |
| HSA-MIR-525-5P | 99.35 | 66.85 | 1615 |
| HSA-MIR-4667-3P | 99.26 | 65.45 | 1608 |
| HSA-MIR-6837-5P | 99.25 | 65.47 | 1632 |
| HSA-MIR-4426 | 99.17 | 66.74 | 1949 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-4297 | 98.77 | 66.95 | 2013 |
| HSA-MIR-12114 | 98.70 | 63.45 | 730 |
| HSA-MIR-7155-5P | 98.65 | 66.14 | 1290 |
| HSA-MIR-3145-5P | 98.57 | 67.83 | 900 |
| HSA-MIR-6804-5P | 98.39 | 65.77 | 1084 |
| HSA-MIR-197-3P | 98.09 | 69.23 | 1004 |
Literature-anchored findings (GeneRIF, showing 12)
- The studies in mouse show that MsrB is a selenoprotein that exhibits high specificity for reduction of the R forms of free and protein-bound methionine sulfoxide. (PMID:11779133)
- The neutrophils expressed the highest activity Msrs. Msrs are important as antioxidant/repair systems for neutrophils, cells with enormous capacity for the generation of reactive oxidants and hence, susceptible to oxidative damage. (PMID:17938273)
- Strong candidate gene for schizophrenia; upregulated in lymphoblastoid cells of monozygotic twins. (PMID:18081029)
- The results demonstrate that in human lens epithelial cells MsrB1 may play important roles in regulating redox balance and mitigating endoplasmic reticulum stress. (PMID:22713178)
- MsrB1 plays important roles in protecting HLE cell mitochondria against oxidative damage and inhibits oxidative stress-induced apoptosis in diabetic cataracts by scavenging ROS. (PMID:23270945)
- FRET and co-IP assays demonstrated that Clu interacted with beta-amyloid peptide, a pathological protein of AD, which suggested a potential effect of SelR and Abeta with the aid of Clu. The interaction between SelR and Clu provides a novel avenue for further study on the mechanism of SelR in AD prevention. (PMID:23805218)
- Silencing the expression of the main Msr elements-MsrA, MsrB1, or MsrB2 exacerbates sensitivity toward oxidative stress. (PMID:23988788)
- MsrB1 protected human lens epithelial cells against the peroxynitrite-induced F-actin disruption. (PMID:24342607)
- Selenoprotein R Protects Human Lens Epithelial Cells against D-Galactose-Induced Apoptosis by Regulating Oxidative Stress and Endoplasmic Reticulum Stress (PMID:26875981)
- findings suggested that SelX played important roles in protecting LO2 cells against oxidative damage and reducing H2O2-induced apoptosis in liver cells. (PMID:26899321)
- In vivo, MsrB1 shRNAi can inhibit lung metastasis in metastasis model. In conclusion, MsrB1 regulates proliferation and invasion of u2os cells by affecting MAPK pathway and EMT, and MsrB1 gene may be a novel therapeutic target against tumors. (PMID:29395081)
- The selenoprotein methionine sulfoxide reductase B1 (MSRB1). (PMID:36084791)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | msrb1b | ENSDARG00000045160 |
| mus_musculus | Msrb1 | ENSMUSG00000075705 |
| rattus_norvegicus | Msrb1 | ENSRNOG00000055314 |
| drosophila_melanogaster | MsrA | FBGN0000565 |
| caenorhabditis_elegans | WBGENE00018393 |
Paralogs (3): MSRB2 (ENSG00000148450), MSRB3 (ENSG00000174099), MSRA (ENSG00000175806)
Protein
Protein identifiers
Methionine-R-sulfoxide reductase B1 — Q9NZV6 (reviewed: Q9NZV6)
Alternative names: Selenoprotein X
All UniProt accessions (3): Q9NZV6, H3BS64, H3BTT6
UniProt curated annotations — full annotation on UniProt →
Function. Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine. While in many cases, methionine oxidation is the result of random oxidation following oxidative stress, methionine oxidation is also a post-translational modification that takes place on specific residue. Acts as a regulator of actin assembly by reducing methionine (R)-sulfoxide mediated by MICALs (MICAL1, MICAL2 or MICAL3) on actin, thereby promoting filament repolymerization. Plays a role in innate immunity by reducing oxidized actin, leading to actin repolymerization in macrophages.
Subcellular location. Cytoplasm. Nucleus. Cytoskeleton.
Post-translational modifications. Truncated MSRB1/SEPX1 proteins produced by failed UGA/Sec decoding are ubiquitinated by some Cul2-RING E3 ubiquitin-protein ligase complexes (containing either PRAME, PRAMF6, PRAMF9 or FEM1C as substrate-recognition component).
Cofactor. Binds 1 zinc ion per subunit.
Similarity. Belongs to the MsrB Met sulfoxide reductase family.
RefSeq proteins (3): NP_001369193, NP_001369194, NP_057416* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002579 | Met_Sox_Rdtase_MsrB_dom | Domain |
| IPR011057 | Mss4-like_sf | Homologous_superfamily |
| IPR052150 | MsrB_Met_sulfoxide_reductase | Family |
Pfam: PF01641
Enzyme classification (BRENDA):
- EC 1.8.4.12 — peptide-methionine (R)-S-oxide reductase (BRENDA: 101 organisms, 214 substrates, 7 inhibitors, 64 Km, 65 kcat entries)
Substrate kinetics (BRENDA)
19 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| THIOREDOXIN | 0.004–7 | 9 |
| L-METHIONINE-(R)-S-OXIDE | 0.054–1.3 | 8 |
| DABSYL-L-METHIONINE (R)-S-OXIDE | 0.03–0.085 | 7 |
| DABSYL-L-METHIONINE (R)-SULFOXIDE | 0.02–0.06 | 6 |
| N-ACETYL-L-METHIONINE-(R)-S-OXIDE | 0.043–0.429 | 6 |
| DITHIOTHREITOL | 0.0091–2 | 4 |
| L-METHIONINE (R)-SULFOXIDE | 1.451–67 | 3 |
| TRYPAREDOXIN I | 0.0016–0.0021 | 3 |
| ACETYL-L-METHIONINE (R)-SULFOXIDE N-METHYL ESTER | 0.14–2.2 | 2 |
| N-ACETYL-L-METHIONINE (R)-SULFOXIDE | 0.049 | 2 |
| (S)-1-NONEN-4-OL | 1.2 | 1 |
| CDSP32 | 0.0002 | 1 |
| GLUTAREDOXIN | 0.0028 | 1 |
| GLUTAREDOXIN C4 | 0.0068 | 1 |
| GLUTAREDOXIN S12 | 0.0005 | 1 |
Catalyzed reactions (Rhea), 2 shown:
- [thioredoxin]-disulfide + L-methionine + H2O = L-methionine (R)-S-oxide + [thioredoxin]-dithiol (RHEA:21260)
- L-methionyl-[protein] + [thioredoxin]-disulfide + H2O = L-methionyl-(R)-S-oxide-[protein] + [thioredoxin]-dithiol (RHEA:24164)
UniProt features (22 total): strand 10, binding site 4, helix 2, turn 2, chain 1, domain 1, active site 1, non-standard amino acid 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3MAO | X-RAY DIFFRACTION | 1.42 |
Predicted structure (AlphaFold)
No AlphaFold model available for Q9NZV6 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 95 (nucleophile)
Ligand- & substrate-binding residues (4): 23; 26; 71; 74
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-5676934 | Protein repair |
| R-HSA-392499 | Metabolism of proteins |
MSigDB gene sets: 179 (showing top):
GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, DITTMER_PTHLH_TARGETS_UP, COUP_01, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, KESHELAVA_MULTIPLE_DRUG_RESISTANCE, GOBP_ACTIN_FILAMENT_ORGANIZATION, PPAR_DR1_Q2, BROWN_MYELOID_CELL_DEVELOPMENT_UP, GOMF_ACTIN_BINDING, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_5, PARENT_MTOR_SIGNALING_UP, NIKOLSKY_BREAST_CANCER_16P13_AMPLICON, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_A_SULFUR_GROUP_OF_DONORS_DISULFIDE_AS_ACCEPTOR
GO Biological Process (4): actin filament polymerization (GO:0030041), protein repair (GO:0030091), innate immune response (GO:0045087), immune system process (GO:0002376)
GO Molecular Function (7): actin binding (GO:0003779), zinc ion binding (GO:0008270), peptide-methionine (R)-S-oxide reductase activity (GO:0033743), L-methionine (R)-S-oxide reductase activity (GO:0033745), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), metal ion binding (GO:0046872)
GO Cellular Component (5): nucleus (GO:0005634), cytosol (GO:0005829), actin cytoskeleton (GO:0015629), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor | 2 |
| cellular anatomical structure | 2 |
| actin polymerization or depolymerization | 1 |
| protein polymerization | 1 |
| protein metabolic process | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| biological_process | 1 |
| cytoskeletal protein binding | 1 |
| transition metal ion binding | 1 |
| catalytic activity, acting on a protein | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| cytoskeleton | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1154 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MSRB1 | SELENOK | Q9Y6D0 | 865 |
| MSRB1 | SELENOO | Q9BVL4 | 842 |
| MSRB1 | SELENOT | P62341 | 837 |
| MSRB1 | GPX2 | P18283 | 810 |
| MSRB1 | GPX3 | P22352 | 810 |
| MSRB1 | SEPHS2 | Q99611 | 808 |
| MSRB1 | SELENOS | Q9BQE4 | 802 |
| MSRB1 | SELENON | Q9NZV5 | 798 |
| MSRB1 | SELENOW | P63302 | 793 |
| MSRB1 | TXNRD2 | Q9NNW7 | 792 |
| MSRB1 | SELENOH | Q8IZQ5 | 787 |
| MSRB1 | GPX7 | Q96SL4 | 780 |
| MSRB1 | SELENOF | O60613 | 779 |
| MSRB1 | GPX6 | P59796 | 771 |
| MSRB1 | TXNRD3 | Q86VQ6 | 752 |
IntAct
34 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MSRB1 | CLU | psi-mi:“MI:0915”(physical association) | 0.670 |
| MSRB1 | CLU | psi-mi:“MI:2364”(proximity) | 0.670 |
| MSRB1 | CLU | psi-mi:“MI:0407”(direct interaction) | 0.670 |
| APP | MSRB1 | psi-mi:“MI:0915”(physical association) | 0.600 |
| APP | MSRB1 | psi-mi:“MI:0407”(direct interaction) | 0.600 |
| IFT88 | MSRB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYSRT1 | MSRB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| INCA1 | MSRB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM27 | MSRB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MSRB1 | E2 | psi-mi:“MI:0915”(physical association) | 0.490 |
| MSRB1 | psi-mi:“MI:0945”(oxidoreductase activity electron transfer reaction) | 0.440 | |
| CLUH | MSRB1 | psi-mi:“MI:0945”(oxidoreductase activity electron transfer reaction) | 0.440 |
| MSRB1 | E2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MSRB1 | IFT88 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MSRB1 | CYSRT1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MSRB1 | TRIM27 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (18): MSRB1 (Affinity Capture-RNA), MSRB1 (Affinity Capture-MS), CLU (Two-hybrid), CLU (FRET), CLU (Affinity Capture-Western), MSRB1 (Affinity Capture-Western), MSRB1 (Reconstituted Complex), MSRB1 (Affinity Capture-RNA), MSRB1 (Two-hybrid), MSRB1 (Two-hybrid), MSRB1 (Two-hybrid), TRIM27 (Two-hybrid), MSRB1 (Affinity Capture-RNA), MSRB1 (Affinity Capture-RNA), MSRB1 (Two-hybrid)
ESM2 similar proteins: A0K833, A1E952, A5F6R2, A9AJS6, B1JTT6, B1YRN6, B4EBK9, B8GY23, C0M8H8, C0MDV8, C3LNU9, G2TRS2, O49707, P0DC42, P0DC43, P21220, P25566, P34436, P65447, P75129, Q0BEH0, Q1BH71, Q32GC7, Q39FG2, Q3MHL9, Q52KJ8, Q5R869, Q5XCD0, Q65ID2, Q6NW52, Q72EK2, Q7MMC4, Q802G6, Q84JT6, Q8D849, Q8GWF4, Q8P172, Q8VY86, Q92Y46, Q99ZV6
Diamond homologs: A1E952, A2SGN7, A3M4Q3, A4XVB1, B0BYW4, B0VC45, B0VR86, B1HZH4, B2HYT2, B7H3X2, B7I415, B9DNY9, C1DRM1, P14930, P25566, P34436, Q10L32, Q2YY44, Q3MHL9, Q46EH1, Q49XN4, Q4L6D3, Q52KJ8, Q5HPB4, Q5R869, Q6ADJ8, Q6AUK5, Q6FAL8, Q72NN2, Q802G6, Q84JT6, Q8BU85, Q8CSK6, Q8F7W8, Q8PWF5, Q8UGX7, Q9C5C8, Q9CJ17, Q9JLC3, Q9JWM8
SIGNOR signaling
0 interactions.
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 | 25 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
682 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:1940772:GCTCA:G | donor_loss | 1.0000 |
| 16:1940773:CTCA:C | donor_loss | 1.0000 |
| 16:1940774:TCA:T | donor_loss | 1.0000 |
| 16:1940775:CA:C | donor_loss | 1.0000 |
| 16:1940776:A:AT | donor_loss | 1.0000 |
| 16:1940777:CCTT:C | donor_loss | 1.0000 |
| 16:1940890:CAC:C | acceptor_gain | 1.0000 |
| 16:1940892:CCTGG:C | acceptor_loss | 1.0000 |
| 16:1941254:CACCT:C | donor_loss | 1.0000 |
| 16:1941255:A:AC | donor_gain | 1.0000 |
| 16:1941255:AC:A | donor_gain | 1.0000 |
| 16:1941255:ACC:A | donor_loss | 1.0000 |
| 16:1941256:C:CC | donor_gain | 1.0000 |
| 16:1941256:CC:C | donor_gain | 1.0000 |
| 16:1941401:AACGC:A | acceptor_gain | 1.0000 |
| 16:1941402:ACGC:A | acceptor_gain | 1.0000 |
| 16:1941403:CGC:C | acceptor_gain | 1.0000 |
| 16:1941403:CGCC:C | acceptor_gain | 1.0000 |
| 16:1941404:GC:G | acceptor_gain | 1.0000 |
| 16:1941405:CCTG:C | acceptor_gain | 1.0000 |
| 16:1941406:C:A | acceptor_loss | 1.0000 |
| 16:1941406:C:CC | acceptor_gain | 1.0000 |
| 16:1941408:G:C | acceptor_gain | 1.0000 |
| 16:1941408:G:GC | acceptor_gain | 1.0000 |
| 16:1941411:G:C | acceptor_gain | 1.0000 |
| 16:1941411:G:GC | acceptor_gain | 1.0000 |
| 16:1940891:AC:A | acceptor_gain | 0.9900 |
| 16:1940892:CC:C | acceptor_gain | 0.9900 |
| 16:1940893:C:CC | acceptor_gain | 0.9900 |
| 16:1940894:T:C | acceptor_loss | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000252205 (16:1944802 G>T), RS1000935295 (16:1941688 C>T), RS1001244135 (16:1943521 G>C), RS1001317448 (16:1939397 C>A), RS1001327302 (16:1939196 G>C), RS1001608027 (16:1940250 G>A), RS1002045275 (16:1945123 A>C), RS1002058565 (16:1939922 C>A), RS1002344436 (16:1938016 G>A,C), RS1002623251 (16:1942605 C>T), RS1002872371 (16:1944386 GAGCTGACTCAGCGCAAGAAGAC>G), RS1002997510 (16:1940159 C>T), RS1003013946 (16:1941514 G>A), RS1003322713 (16:1944619 C>A,T), RS1003609358 (16:1942681 G>A)
Disease associations
OMIM: gene MIM:606216 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003139_19 | Glomerular filtration rate in chronic kidney disease | 5.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases methylation, affects expression, increases expression | 3 |
| Acetaminophen | decreases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Aflatoxin B1 | affects expression, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| selenomethylselenocysteine | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| uranyl acetate | affects expression | 1 |
| beta-lapachone | increases expression, decreases expression | 1 |
| arsenite | increases reaction, affects binding | 1 |
| sulforaphane | increases expression | 1 |
| cupric chloride | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| K 7174 | decreases expression | 1 |
| abrine | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Estradiol | affects expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Lead | affects expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Nickel | decreases expression | 1 |
| Smoke | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E2CS | HAP1 MSRB1 (-) | Cancer cell line | Male |
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.