MSRB2
gene geneOn this page
Also known as PILBCGI-131CBS1CBS-1
Summary
MSRB2 (methionine sulfoxide reductase B2, HGNC:17061) is a protein-coding gene on chromosome 10p12.2, encoding Methionine-R-sulfoxide reductase B2, mitochondrial (Q9Y3D2). Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine.
Predicted to enable actin binding activity; peptide-methionine (R)-S-oxide reductase activity; and zinc ion binding activity. Predicted to be involved in actin filament polymerization and protein repair. Located in mitochondrion.
Source: NCBI Gene 22921 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 27 total
- Druggable target: yes
- MANE Select transcript:
NM_012228
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17061 |
| Approved symbol | MSRB2 |
| Name | methionine sulfoxide reductase B2 |
| Location | 10p12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PILB, CGI-131, CBS1, CBS-1 |
| Ensembl gene | ENSG00000148450 |
| Ensembl biotype | protein_coding |
| OMIM | 613782 |
| Entrez | 22921 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 3 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000376510, ENST00000468633, ENST00000472663, ENST00000900183, ENST00000900184
RefSeq mRNA: 1 — MANE Select: NM_012228
NM_012228
CCDS: CCDS41495
Canonical transcript exons
ENST00000376510 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000985342 | 23104144 | 23104244 |
| ENSE00000985343 | 23110242 | 23110318 |
| ENSE00001470753 | 23120758 | 23122013 |
| ENSE00001540262 | 23095579 | 23095726 |
| ENSE00003644526 | 23119304 | 23119451 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 98.62.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.2740 / max 197.7805, expressed in 1801 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 104269 | 21.0878 | 1797 |
| 104270 | 0.8430 | 591 |
| 104268 | 0.3432 | 139 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| heart right ventricle | UBERON:0002080 | 98.62 | gold quality |
| apex of heart | UBERON:0002098 | 98.55 | gold quality |
| vena cava | UBERON:0004087 | 97.78 | gold quality |
| cardiac ventricle | UBERON:0002082 | 97.74 | gold quality |
| heart left ventricle | UBERON:0002084 | 97.71 | gold quality |
| right atrium auricular region | UBERON:0006631 | 97.64 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 97.37 | gold quality |
| biceps brachii | UBERON:0001507 | 97.26 | gold quality |
| triceps brachii | UBERON:0001509 | 97.21 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 97.04 | gold quality |
| diaphragm | UBERON:0001103 | 96.93 | gold quality |
| heart | UBERON:0000948 | 96.70 | gold quality |
| saphenous vein | UBERON:0007318 | 96.63 | gold quality |
| body of tongue | UBERON:0011876 | 96.60 | gold quality |
| cardiac atrium | UBERON:0002081 | 96.41 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 96.31 | gold quality |
| nucleus accumbens | UBERON:0001882 | 96.09 | gold quality |
| gluteal muscle | UBERON:0002000 | 96.07 | gold quality |
| cranial nerve II | UBERON:0000941 | 96.04 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 96.03 | gold quality |
| amygdala | UBERON:0001876 | 95.93 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 95.93 | gold quality |
| putamen | UBERON:0001874 | 95.90 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 95.82 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 95.82 | gold quality |
| ventral tegmental area | UBERON:0002691 | 95.74 | gold quality |
| hypothalamus | UBERON:0001898 | 95.73 | gold quality |
| right lobe of liver | UBERON:0001114 | 95.68 | gold quality |
| caudate nucleus | UBERON:0001873 | 95.57 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 95.43 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.92 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
41 targeting MSRB2, 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-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-26A-5P | 99.78 | 73.52 | 2303 |
| HSA-MIR-26B-5P | 99.78 | 73.51 | 2305 |
| HSA-MIR-4465 | 99.71 | 72.56 | 2096 |
| HSA-MIR-6892-3P | 99.68 | 66.40 | 1178 |
| HSA-MIR-1251-3P | 99.64 | 67.21 | 1408 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-6833-5P | 99.50 | 68.93 | 1161 |
| HSA-MIR-203A-3P | 99.49 | 70.56 | 2806 |
| HSA-MIR-4687-3P | 99.48 | 66.41 | 968 |
| HSA-MIR-6882-5P | 99.35 | 71.13 | 1206 |
| HSA-MIR-3606-5P | 99.31 | 69.67 | 1168 |
| HSA-MIR-3064-5P | 99.26 | 66.13 | 1497 |
| HSA-MIR-3085-3P | 99.26 | 66.16 | 1490 |
| HSA-MIR-6504-5P | 99.26 | 65.95 | 1487 |
| HSA-MIR-4727-5P | 99.23 | 67.55 | 1154 |
| HSA-MIR-8065 | 99.19 | 70.38 | 1289 |
| HSA-MIR-4520-2-3P | 99.14 | 69.28 | 1009 |
| HSA-MIR-877-3P | 99.09 | 68.10 | 1637 |
| HSA-MIR-6804-5P | 98.39 | 65.77 | 1084 |
| HSA-MIR-654-3P | 98.38 | 67.61 | 905 |
| HSA-MIR-1262 | 98.17 | 66.52 | 757 |
| HSA-MIR-4701-3P | 98.17 | 66.25 | 788 |
| HSA-MIR-6736-5P | 98.17 | 66.43 | 760 |
| HSA-MIR-7850-5P | 98.12 | 67.28 | 1111 |
Literature-anchored findings (GeneRIF, showing 15)
- CBS1, a methionine sulfoxide reductase of type B, is most abundant in muscle tissues, especially in the heart and thereby shows an expression pattern different to the human methionine sulfoxide reductase A (PMID:12220640)
- MSRB is down-regulated during cell aging. (PMID:14759519)
- hMSRB2 expression was weak in brain, but strong in heart, skeletal muscle, and smooth muscle-containing organs (digestive system, bladder), lung and aorta, while hMSRB1 displayed a higher expression in liver and kidney (PMID:14980072)
- showed the expression and function of both sulfoxide reductases together with thioredoxin reductase in the cytosol as well as in the nucleus of epidermal melanocytes which are especially sensitive to reactive oxygen (PMID:16480945)
- Methionine sulfoxide reductases A and B are seriously affected by hydrogen peroxide accumulation in acute vitiligo. (PMID:17943184)
- upon oxidative stress, the overexpression of methionine sulfoxide reductase B2 leads to the preservation of mitochondrial integrity by decreasing the intracellular reactive oxygen species build-up through its scavenging role (PMID:18424444)
- almost absent catalase and methionine sulfoxide reductase A and B protein expression in human gray/white scalp hair shafts in association with a functional loss of methionine sulfoxide repair in the entire gray hair follicle (PMID:19237503)
- MSR enzymes are differentially expressed in human skin. (PMID:19542914)
- Data show that glutaredoxin acts as a reductant for methionine sulfoxide reductases A and B (MsrA and MsrB) with or without resolving cysteine. (PMID:22634633)
- Silencing the expression of the main Msr elements-MsrA, MsrB1, or MsrB2 exacerbates sensitivity toward oxidative stress. (PMID:23988788)
- the mitochondrial methionine-R-sulfoxide reductase B2 (MSRB2) is a specific interaction partner of LG72. (PMID:25078755)
- this study we have identified, for the first time, compounds structurally related to the natural products fusaricidins that markedly activate recombinant bovine and human MsrA and human MsrB. (PMID:26718410)
- the role for mitochondrial MSRB2 in Alzheimer’s disease pathology is indispensible. (PMID:31078523)
- Release of the enzyme MsrB2 from damaged mitochondria, initiating autophagosome formation, represents a novel regulatory mechanism for oxidative stress-induced mitophagy. (PMID:31282614)
- MSRB2 Ameliorates H2O2-induced Chondrocyte Oxidative Stress and Suppresses Apoptosis in Osteoarthritis. (PMID:38638027)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Msrb2 | ENSMUSG00000023094 |
| rattus_norvegicus | Msrb2 | ENSRNOG00000016873 |
| drosophila_melanogaster | MsrA | FBGN0000565 |
| caenorhabditis_elegans | WBGENE00018393 |
Paralogs (3): MSRB3 (ENSG00000174099), MSRA (ENSG00000175806), MSRB1 (ENSG00000198736)
Protein
Protein identifiers
Methionine-R-sulfoxide reductase B2, mitochondrial — Q9Y3D2 (reviewed: Q9Y3D2)
All UniProt accessions (2): Q9Y3D2, H0YE51
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. Upon oxidative stress, may play a role in the preservation of mitochondrial integrity by decreasing the intracellular reactive oxygen species build-up through its scavenging role, hence contributing to cell survival and protein maintenance.
Subunit / interactions. Interacts with DAOA; the interaction is direct.
Subcellular location. Mitochondrion.
Tissue specificity. Ubiquitous. Detected in retina, ocular ciliary body, skeletal muscle, heart, colon, bone marrow, cerebellum, small intestine, fetal brain, fetal liver, kidney, spinal cord, lung, placenta and prostate.
Cofactor. Binds 1 zinc ion per subunit.
Similarity. Belongs to the MsrB Met sulfoxide reductase family.
RefSeq proteins (1): NP_036360* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002579 | Met_Sox_Rdtase_MsrB_dom | Domain |
| IPR011057 | Mss4-like_sf | Homologous_superfamily |
| IPR028427 | Met_Sox_Rdtase_MsrB | 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)
- EC 1.8.4.B3 — (BRENDA: organisms, substrates, inhibitors, Km, 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 (10 total): binding site 4, transit peptide 1, chain 1, domain 1, active site 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y3D2-F1 | 82.25 | 0.65 |
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): 169 (nucleophile)
Ligand- & substrate-binding residues (4): 90; 93; 146; 149
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: 184 (showing top):
BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOBP_ACTIN_FILAMENT_ORGANIZATION, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, GOMF_ACTIN_BINDING, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, chr10p12, PARENT_MTOR_SIGNALING_UP, CHANDRAN_METASTASIS_TOP50_DN, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_A_SULFUR_GROUP_OF_DONORS_DISULFIDE_AS_ACCEPTOR, GOMF_CYTOSKELETAL_PROTEIN_BINDING, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_DN
GO Biological Process (3): response to oxidative stress (GO:0006979), actin filament polymerization (GO:0030041), protein repair (GO:0030091)
GO Molecular Function (8): 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), oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671), metal ion binding (GO:0046872)
GO Cellular Component (3): cytoplasm (GO:0005737), mitochondrion (GO:0005739), cytosol (GO:0005829)
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 |
| cytoplasm | 2 |
| response to stress | 1 |
| actin polymerization or depolymerization | 1 |
| protein polymerization | 1 |
| protein metabolic process | 1 |
| cytoskeletal protein binding | 1 |
| transition metal ion binding | 1 |
| catalytic activity, acting on a protein | 1 |
| binding | 1 |
| catalytic activity | 1 |
| oxidoreductase activity, acting on a sulfur group of donors | 1 |
| cation binding | 1 |
| intracellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1480 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MSRB2 | MSRA | Q9UJ68 | 916 |
| MSRB2 | TXN | P10599 | 741 |
| MSRB2 | H7C2H4 | H7C2H4 | 719 |
| MSRB2 | P0DN79 | P0DN79 | 715 |
| MSRB2 | TJAP1 | Q5JTD0 | 621 |
| MSRB2 | CNNM2 | Q9H8M5 | 557 |
| MSRB2 | SELENOT | P62341 | 541 |
| MSRB2 | GLRX | P35754 | 519 |
| MSRB2 | SELENOF | O60613 | 518 |
| MSRB2 | CAMP | P49913 | 514 |
| MSRB2 | CLCN1 | P35523 | 512 |
| MSRB2 | SELENOO | Q9BVL4 | 496 |
| MSRB2 | MTRR | Q9UBK8 | 477 |
| MSRB2 | DAOA | P59103 | 470 |
| MSRB2 | SELENOM | Q8WWX9 | 447 |
| MSRB2 | SEPHS2 | Q99611 | 447 |
IntAct
61 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRAF2 | MSRB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MSRB2 | APBB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MSRB2 | APOE | psi-mi:“MI:0915”(physical association) | 0.560 |
| MSRB2 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| ELAVL4 | MSRB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MSRB2 | GFAP | psi-mi:“MI:0915”(physical association) | 0.560 |
| MSRB2 | NDUFV2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MSRB2 | PMP22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MSRB2 | NDRG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PEX26 | MSRB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MSRB2 | JPH3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNCA | MSRB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HTT | MSRB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (65): MSRB2 (Two-hybrid), MSRB2 (Affinity Capture-MS), MSRB2 (Affinity Capture-MS), MSRB2 (Two-hybrid), MSRB2 (Co-fractionation), MSRB2 (Co-fractionation), MSRB2 (Co-fractionation), MSRB2 (Co-fractionation), MSRB2 (Co-fractionation), MSRB2 (Co-fractionation), MSRB2 (Co-fractionation), MSRB2 (Co-fractionation), MSRB2 (Co-fractionation), MSRB2 (Co-fractionation), MSRB2 (Co-fractionation)
ESM2 similar proteins: B4GUZ2, O49707, O64903, O76454, O81263, P00257, P10109, P10606, P24483, P25566, P46656, P54150, P54151, Q01H90, Q05B87, Q08C57, Q0DC89, Q16595, Q1JPN0, Q2GNZ6, Q2HVD6, Q4FZX5, Q4P4Y2, Q5BFH3, Q5NTH3, Q5R930, Q5REG2, Q69SV0, Q6AUK5, Q6EU10, Q6NW52, Q6Z690, Q6ZQ88, Q78J03, Q7XUR2, Q84JT6, Q8BU85, Q8GWF4, Q8INK9, Q8IXL7
Diamond homologs: A0K833, A1JQG8, A1V4U8, A1VNB7, A2SBI6, A2SGN7, A3M4Q3, A4G5V5, A4JEZ1, A4XVB1, A5F6R2, A5GQT3, A5W756, A6T7R0, A6V3R3, A7Z5S1, A8A0X0, A9AJS6, B0BYW4, B0KUQ0, B0VC45, B0VR86, B1IPF3, B1J4W5, B1JTT6, B1YRN6, B2HYT2, B2I8Y4, B3PK10, B4EBK9, B5XS71, B7H3X2, B7I415, B7LQ21, B7M1J2, B7UUZ9, B8GMG5, B8GY23, C1DRM1, C3K735
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
27 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 19 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
922 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:23104250:C:G | donor_gain | 1.0000 |
| 10:23102641:TTA:T | donor_gain | 0.9900 |
| 10:23104140:ACAG:A | acceptor_gain | 0.9900 |
| 10:23104142:AG:A | acceptor_gain | 0.9900 |
| 10:23104143:GG:G | acceptor_gain | 0.9900 |
| 10:23104242:CCGG:C | donor_loss | 0.9900 |
| 10:23104243:CGG:C | donor_loss | 0.9900 |
| 10:23104245:G:GG | donor_gain | 0.9900 |
| 10:23104245:G:GT | donor_loss | 0.9900 |
| 10:23104246:T:TT | donor_loss | 0.9900 |
| 10:23110240:A:AG | acceptor_gain | 0.9900 |
| 10:23110241:G:GA | acceptor_gain | 0.9900 |
| 10:23110315:TCAG:T | donor_loss | 0.9900 |
| 10:23110316:CAG:C | donor_loss | 0.9900 |
| 10:23110316:CAGGT:C | donor_gain | 0.9900 |
| 10:23110317:AGGTA:A | donor_gain | 0.9900 |
| 10:23110318:GG:G | donor_loss | 0.9900 |
| 10:23110318:GGT:G | donor_gain | 0.9900 |
| 10:23110319:G:GC | donor_loss | 0.9900 |
| 10:23110320:T:G | donor_loss | 0.9900 |
| 10:23113728:A:G | acceptor_gain | 0.9900 |
| 10:23119302:A:AG | acceptor_gain | 0.9900 |
| 10:23119303:G:GG | acceptor_gain | 0.9900 |
| 10:23104137:A:AG | acceptor_gain | 0.9800 |
| 10:23104139:TACA:T | acceptor_loss | 0.9800 |
| 10:23104141:CA:C | acceptor_loss | 0.9800 |
| 10:23104142:A:AT | acceptor_loss | 0.9800 |
| 10:23110237:TTCA:T | acceptor_loss | 0.9800 |
| 10:23110238:TCAG:T | acceptor_loss | 0.9800 |
| 10:23110240:A:C | acceptor_loss | 0.9800 |
AlphaMissense
1163 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:23119344:T:C | F113L | 0.998 |
| 10:23119346:T:A | F113L | 0.998 |
| 10:23119346:T:G | F113L | 0.998 |
| 10:23110314:T:C | F98L | 0.997 |
| 10:23110316:C:A | F98L | 0.997 |
| 10:23110316:C:G | F98L | 0.997 |
| 10:23120815:T:C | F168L | 0.996 |
| 10:23120817:T:A | F168L | 0.996 |
| 10:23120817:T:G | F168L | 0.996 |
| 10:23110315:T:C | F98S | 0.995 |
| 10:23120782:T:C | F157L | 0.995 |
| 10:23120784:T:A | F157L | 0.995 |
| 10:23120784:T:G | F157L | 0.995 |
| 10:23104219:T:A | V65D | 0.993 |
| 10:23119335:T:A | W110R | 0.993 |
| 10:23119335:T:C | W110R | 0.993 |
| 10:23119337:G:C | W110C | 0.993 |
| 10:23119337:G:T | W110C | 0.993 |
| 10:23119345:T:C | F113S | 0.993 |
| 10:23120826:C:A | N171K | 0.993 |
| 10:23120826:C:G | N171K | 0.993 |
| 10:23120827:A:C | S172R | 0.993 |
| 10:23120829:T:A | S172R | 0.993 |
| 10:23120829:T:G | S172R | 0.993 |
| 10:23110315:T:G | F98C | 0.992 |
| 10:23119345:T:G | F113C | 0.992 |
| 10:23120813:G:T | R167M | 0.992 |
| 10:23120769:T:A | H152Q | 0.991 |
| 10:23120769:T:G | H152Q | 0.991 |
| 10:23120816:T:C | F168S | 0.991 |
dbSNP variants (sampled 300 via entrez): RS1000286192 (10:23113507 G>A), RS1000391740 (10:23122378 C>A,T), RS1000538041 (10:23093738 A>G), RS1000592923 (10:23117858 T>C), RS1000661711 (10:23110811 A>C), RS1000851281 (10:23095117 A>T), RS1000953926 (10:23098591 G>A,T), RS1000956281 (10:23116326 A>G), RS1001165 (10:23099982 G>A,C,T), RS1001232413 (10:23101881 A>C), RS1001346642 (10:23102147 GAC>G), RS1001476599 (10:23107375 C>A), RS1001776344 (10:23107557 T>C), RS1001778990 (10:23113359 C>A), RS1001833977 (10:23118346 T>TG,TGG)
Disease associations
OMIM: gene MIM:613782 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_687 | Obesity-related traits | 3.000000e-06 |
| GCST002875_43 | Diisocyanate-induced asthma | 2.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004810 | interleukin-6 measurement |
| EFO:0006995 | response to diisocyanate |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3509603 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression | 4 |
| bisphenol A | decreases expression, decreases methylation, affects cotreatment, increases expression | 3 |
| Benzo(a)pyrene | decreases methylation, increases expression | 2 |
| tert-Butylhydroperoxide | decreases expression, decreases reaction, decreases response to substance | 2 |
| GSK-J4 | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| butyraldehyde | decreases expression | 1 |
| salvianolic acid B | decreases reaction, decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | affects cotreatment, 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 | increases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Azacitidine | increases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Curcumin | decreases expression, decreases reaction | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diethylstilbestrol | decreases expression | 1 |
| Dithiothreitol | increases reduction | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 admet
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3528407 | ADMET | Drug metabolism assessed as human MSRB2-mediated reduced product formation | Studies on the metabolism and biological activity of the epimers of sulindac. — Drug Metab Dispos |
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.