GLRX2
gene geneOn this page
Also known as GRX2bA101E13.1
Summary
GLRX2 (glutaredoxin 2, HGNC:16065) is a protein-coding gene on chromosome 1q31.2, encoding Glutaredoxin-2, mitochondrial (Q9NS18). Glutathione-dependent oxidoreductase that facilitates the maintenance of mitochondrial redox homeostasis upon induction of apoptosis by oxidative stress.
The protein encoded by this gene is a member of the glutaredoxin family of proteins, which maintain cellular thiol homeostasis. These proteins are thiol-disulfide oxidoreductases that use a glutathione-binding site and one or two active cysteines in their active site. This gene undergoes alternative splicing to produce multiple isoforms, one of which is ubiquitously expressed and localizes to mitochondria, where it functions in mitochondrial redox homeostasis and is important for the protection against and recovery from oxidative stress. Other isoforms, which have more restrictive expression patterns, show cytosolic and nuclear localization, and are thought to function in cellular differentiation and transformation, possibly with a role in tumor progression.
Source: NCBI Gene 51022 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 25 total
- MANE Select transcript:
NM_197962
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16065 |
| Approved symbol | GLRX2 |
| Name | glutaredoxin 2 |
| Location | 1q31.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GRX2, bA101E13.1 |
| Ensembl gene | ENSG00000023572 |
| Ensembl biotype | protein_coding |
| OMIM | 606820 |
| Entrez | 51022 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 2 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000367439, ENST00000367440, ENST00000472197, ENST00000608166
RefSeq mRNA: 3 — MANE Select: NM_197962
NM_001243399, NM_016066, NM_197962
CCDS: CCDS1380, CCDS1381
Canonical transcript exons
ENST00000367439 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001444503 | 193105264 | 193105414 |
| ENSE00003574589 | 193101141 | 193101204 |
| ENSE00003691498 | 193097584 | 193097760 |
| ENSE00003901270 | 193096470 | 193096759 |
Expression profiles
Bgee: expression breadth ubiquitous, 287 present calls, max score 98.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.4971 / max 253.1374, expressed in 1821 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 16452 | 31.4495 | 1821 |
| 16454 | 0.0440 | 5 |
| 16453 | 0.0036 | 2 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 98.25 | gold quality |
| male germ cell | CL:0000015 | 96.37 | gold quality |
| left testis | UBERON:0004533 | 94.56 | gold quality |
| right testis | UBERON:0004534 | 94.42 | gold quality |
| oocyte | CL:0000023 | 93.80 | gold quality |
| adult organism | UBERON:0007023 | 93.67 | gold quality |
| endothelial cell | CL:0000115 | 93.41 | gold quality |
| testis | UBERON:0000473 | 92.95 | gold quality |
| pons | UBERON:0000988 | 92.83 | gold quality |
| heart right ventricle | UBERON:0002080 | 92.61 | gold quality |
| heart left ventricle | UBERON:0002084 | 92.57 | gold quality |
| cardiac ventricle | UBERON:0002082 | 92.52 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 92.38 | gold quality |
| secondary oocyte | CL:0000655 | 92.17 | gold quality |
| adrenal tissue | UBERON:0018303 | 91.84 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 91.66 | gold quality |
| gastrocnemius | UBERON:0001388 | 91.54 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 91.16 | gold quality |
| primary visual cortex | UBERON:0002436 | 91.09 | gold quality |
| muscle of leg | UBERON:0001383 | 91.06 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 90.80 | gold quality |
| muscle organ | UBERON:0001630 | 90.69 | gold quality |
| heart | UBERON:0000948 | 90.64 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 90.33 | gold quality |
| cartilage tissue | UBERON:0002418 | 90.31 | gold quality |
| biceps brachii | UBERON:0001507 | 90.29 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 90.24 | gold quality |
| right adrenal gland | UBERON:0001233 | 90.04 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 89.94 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 89.93 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.87 |
| E-MTAB-4850 | no | 234.44 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
8 targeting GLRX2, 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-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-3617-5P | 99.75 | 69.41 | 1968 |
| HSA-MIR-641 | 99.75 | 69.35 | 1975 |
| HSA-MIR-4666B | 99.64 | 68.69 | 1282 |
| HSA-MIR-6853-3P | 99.36 | 70.79 | 1558 |
| HSA-MIR-371A-5P | 99.08 | 66.51 | 1914 |
| HSA-MIR-1255B-2-3P | 97.80 | 67.04 | 880 |
| HSA-MIR-5196-3P | 97.57 | 65.98 | 979 |
Literature-anchored findings (GeneRIF, showing 22)
- results suggest an important role for glutaredoxin 2 in protection and recovery from oxidative stress (PMID:14676218)
- Grx1 and Grx2 were present in placenta extracts and in cell lysates prepared from tumor cell lines; however, the levels of Grx1 were at least 20 times higher than those of Grx2; Grx2 was not detected in plasma from healthy blood donors (PMID:15184054)
- Lung cells can synthesize Grx2 mRNA and protein. (PMID:15297967)
- characterization of Grx2 as an iron-sulfur center-containing member of the thioredoxin fold protein family (PMID:15917333)
- Grx2 has a novel function as a peroxidase, accepting electrons both from GSH and TR. This unique property may play a role in protecting the mitochondria from oxidative damage. (PMID:17065220)
- The iron-sulfur cluster is complexed by the two N-terminal active site thiols of two Grx2 monomers and two molecules of glutathione that are bound noncovalently to the proteins and in equilibrium with glutathione in solution. (PMID:17115894)
- Eficence of an iron-sulfur cluster in which binding of the cluster inactivates the protein by sequestering active site residues and where loss of the cluster through changes in subcellular redox status creates a catalytically active protein. (PMID:17121859)
- Human Grx2 is found to be a conserved feature within the deuterostomes and appears to be the only additional conserved intramolecular disulfide within the glutaredoxins. (PMID:17546662)
- Grx2 is constitutively expressed in both neuron and glia in mouse and human brain including the neurons in human substantia nigra. (PMID:17961515)
- Grx1 and Grx2 exhibit key catalytic similarities, including selectivity for protein-SSG substrates and a nucleophilic, double-displacement, monothiol mechanism exhibiting a strong commitment to catalysis. (PMID:18816065)
- cluster signal of Grx2 is stable at positive potentials up to 0.5 V but that cluster destruction occurs readily when oxidative pulses in excess of this value are applied (PMID:19292455)
- Studies indicate that the mechanism of Grx2 protection against H(2)O(2)-induced apoptosis is likely associated with its ability to preserve complex I. (PMID:20547138)
- Both thioredoxin 2 and glutaredoxin 2 contribute to the reduction of the mitochondrial 2-Cys peroxiredoxin Prx3. (PMID:20929858)
- Exchange of [2Fe-2S] centers between glutaredoxin 2 and the cluster scaffold protein ISU, supports a direct link for glutaredoxin 2 and glutathione involvement in ISU promoted Fe-S cluster biosynthesis. (PMID:21437321)
- These results suggest that Grx2a plays proliferative and anti-apoptotic roles under serum deprivation. (PMID:21735102)
- Grx2 thiol redox regulation is essential for vertebrate embryonic development (PMID:22139372)
- The Grx2 system could help to keep Trx2/1 reduced during an oxidative stress, thereby contributing to the anti-apoptotic signaling. (PMID:24295294)
- Grx2 and Trx1 contribute significantly to neuronal integrity and could be clinically relevant in neuronal damage following perinatal asphyxia and other neuronal disorders. (PMID:25735211)
- Study shows that Grx2 detoxifies *NO in mature oligodendrocytes and oligodendroglial precursor cellsvia the formation of dinitrosyl-iron-complexes, inhibiting the formation of harmful peroxynitrite and reducing subsequent oligodendroglial damage. Findings link inorganic biochemistry to neuroinflammation and identify glutaredoxin 2 as a protective factor against neuroinflammation-mediated myelin damage. (PMID:28618115)
- GRX2 is important in the control of cardiac mitochondrial structure and function, and protects against human cardiac pathologies. (PMID:29101900)
- By sensing the overall cellular redox conditions, mitochondrial Grx2 dimers become active monomers upon oxidative stress induced by sodium selenite with the consequent release of the iron-sulfur cluster, leading to activation of the intrinsic apoptotic pathway. (PMID:31168542)
- Glutaredoxin 2 Protein (Grx2) as an Independent Prognostic Factor Associated with the Survival of Colon Adenocarcinoma Patients. (PMID:38256132)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | glrx2 | ENSDARG00000100944 |
| rattus_norvegicus | Glrx2 | ENSRNOG00000003385 |
| drosophila_melanogaster | Grx1t | FBGN0034658 |
| drosophila_melanogaster | Grx1 | FBGN0036820 |
| caenorhabditis_elegans | WBGENE00017340 |
Paralogs (2): GRXCR2 (ENSG00000204928), GRXCR1 (ENSG00000215203)
Protein
Protein identifiers
Glutaredoxin-2, mitochondrial — Q9NS18 (reviewed: Q9NS18)
All UniProt accessions (1): Q9NS18
UniProt curated annotations — full annotation on UniProt →
Function. Glutathione-dependent oxidoreductase that facilitates the maintenance of mitochondrial redox homeostasis upon induction of apoptosis by oxidative stress. Involved in response to hydrogen peroxide and regulation of apoptosis caused by oxidative stress. Acts as a very efficient catalyst of monothiol reactions because of its high affinity for protein glutathione-mixed disulfides. Can receive electrons not only from glutathione (GSH), but also from thioredoxin reductase supporting both monothiol and dithiol reactions. Efficiently catalyzes both glutathionylation and deglutathionylation of mitochondrial complex I, which in turn regulates the superoxide production by the complex. Overexpression decreases the susceptibility to apoptosis and prevents loss of cardiolipin and cytochrome c release.
Subunit / interactions. Monomer; active form. Homodimer; inactive form. The homodimer is probably linked by 1 2Fe-2S cluster.
Subcellular location. Mitochondrion Nucleus.
Tissue specificity. Widely expressed. Expressed in brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, small intestine, placenta and lung. Not expressed in peripheral blood leukocytes.
Activity regulation. The 2Fe-2S present in the homodimer leads to inactivation of the enzyme. The 2Fe-2S may serve as a redox sensor: the presence of one-electron oxidants or reductants leading to the loss of the 2Fe-2S cluster, subsequent monomerization and activation of the enzyme. Unlike other glutaredoxins, it is not inhibited by oxidation of structural Cys residues.
Miscellaneous. The absence of GLRX2 dramatically sensitizes cells to cell death induced by doxorubicin/adriamycin and phenylarsine oxide.
Similarity. Belongs to the glutaredoxin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NS18-1 | 1, Grx2a | yes |
| Q9NS18-2 | 2, Grx2b |
RefSeq proteins (3): NP_001230328, NP_057150, NP_932066* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002109 | Glutaredoxin | Domain |
| IPR011899 | Glutaredoxin_euk/vir | Domain |
| IPR014025 | Glutaredoxin_subgr | Domain |
| IPR036249 | Thioredoxin-like_sf | Homologous_superfamily |
Pfam: PF00462
UniProt features (30 total): helix 7, strand 5, binding site 5, mutagenesis site 4, sequence variant 2, modified residue 2, transit peptide 1, chain 1, disulfide bond 1, splice variant 1, domain 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2HT9 | X-RAY DIFFRACTION | 1.9 |
| 2FLS | X-RAY DIFFRACTION | 2.05 |
| 2CQ9 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NS18-F1 | 83.48 | 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.
Ligand- & substrate-binding residues (5): 68 (in inactive form); 74; 109; 121; 153 (in inactive form)
Post-translational modifications (2): 20, 77
Disulfide bonds (1): 77–80
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 68 | abolishes absorption at 320 nm and 420 nm suggesting the loss of 2fe-2s-binding. |
| 78 | specifically increases the specific activity but decreases affinity for glutathionylated substrates. |
| 80 | strongly impairs enzymatic activity. |
| 153 | abolishes absorption at 320 nm and 420 nm suggesting the loss of 2fe-2s-binding. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 129 (showing top):
RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, WEI_MYCN_TARGETS_WITH_E_BOX, JAZAG_TGFB1_SIGNALING_DN, ONKEN_UVEAL_MELANOMA_UP, GOBP_CELL_REDOX_HOMEOSTASIS, GOBP_AMIDE_METABOLIC_PROCESS, JAZAG_TGFB1_SIGNALING_VIA_SMAD4_UP, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_GLUTATHIONE_METABOLIC_PROCESS, BASAKI_YBX1_TARGETS_UP, CUI_TCF21_TARGETS_2_DN, GOBP_MODIFIED_AMINO_ACID_METABOLIC_PROCESS, GOBP_RESPONSE_TO_REDOX_STATE, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_UP, GOBP_HOMEOSTATIC_PROCESS
GO Biological Process (9): regulation of DNA-templated transcription (GO:0006355), glutathione metabolic process (GO:0006749), apoptotic process (GO:0006915), response to temperature stimulus (GO:0009266), regulation of signal transduction (GO:0009966), cell differentiation (GO:0030154), DNA protection (GO:0042262), cell redox homeostasis (GO:0045454), response to redox state (GO:0051775)
GO Molecular Function (9): protein disulfide isomerase activity (GO:0003756), arsenate reductase (glutaredoxin) activity (GO:0008794), electron transfer activity (GO:0009055), protein-disulfide reductase activity (GO:0015035), glutathione disulfide oxidoreductase activity (GO:0015038), metal ion binding (GO:0046872), 2 iron, 2 sulfur cluster binding (GO:0051537), protein binding (GO:0005515), iron-sulfur cluster binding (GO:0051536)
GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), mitochondrion (GO:0005739)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| catalytic activity, acting on a protein | 2 |
| disulfide oxidoreductase activity | 2 |
| intracellular membrane-bounded organelle | 2 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| modified amino acid metabolic process | 1 |
| sulfur compound metabolic process | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| response to abiotic stimulus | 1 |
| signal transduction | 1 |
| regulation of cell communication | 1 |
| regulation of signaling | 1 |
| regulation of response to stimulus | 1 |
| cellular developmental process | 1 |
| DNA metabolic process | 1 |
| cellular response to stress | 1 |
| cellular homeostasis | 1 |
| response to stimulus | 1 |
| intramolecular oxidoreductase activity, transposing S-S bonds | 1 |
| oxidoreductase activity, acting on phosphorus or arsenic in donors, disulfide as acceptor | 1 |
| molecular_function | 1 |
| cation binding | 1 |
| iron-sulfur cluster binding | 1 |
| binding | 1 |
| metal cluster binding | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
2157 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GLRX2 | GLRX3 | O76003 | 844 |
| GLRX2 | TXN | P10599 | 769 |
| GLRX2 | GLRX5 | Q86SX6 | 766 |
| GLRX2 | TXN2 | Q99757 | 743 |
| GLRX2 | TXNRD2 | Q9NNW7 | 688 |
| GLRX2 | GSR | P00390 | 649 |
| GLRX2 | PRDX3 | P30048 | 642 |
| GLRX2 | PRDX5 | P30044 | 604 |
| GLRX2 | GPX4 | P36969 | 547 |
| GLRX2 | ISCU | Q9H1K1 | 537 |
| GLRX2 | SOD1 | P00441 | 528 |
| GLRX2 | PRDX4 | Q13162 | 526 |
| GLRX2 | GPX2 | P18283 | 519 |
| GLRX2 | GPX3 | P22352 | 517 |
| GLRX2 | F5H3C5 | F5H3C5 | 511 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DCXR | GLRX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GLRX2 | ELF5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SFXN1 | HAX1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| GLRX2 | DCXR | psi-mi:“MI:0915”(physical association) | 0.000 |
| GLRX2 | ELF5 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (15): GLRX2 (Co-fractionation), GLRX2 (Co-fractionation), MDH2 (Co-fractionation), PITPNB (Co-fractionation), GLRX2 (Biochemical Activity), GLRX2 (Biochemical Activity), GLRX2 (Proximity Label-MS), ELF5 (Two-hybrid), DCXR (Two-hybrid), GLRX2 (Affinity Capture-MS), GLRX2 (Co-fractionation), GLRX2 (Co-fractionation), GLRX2 (Co-fractionation), GLRX2 (Co-fractionation), GLRX2 (Affinity Capture-Luminescence)
ESM2 similar proteins: A2ZVG7, A8J353, B4H303, B4NE93, B5DKJ8, F4KF14, O22993, O23403, O48529, O49078, O49196, O49292, O64903, O81027, O81263, P13272, P24493, P27626, P54150, P54151, P60315, Q00497, Q10BX9, Q38853, Q42805, Q42836, Q5NTH3, Q5NTH4, Q5RC53, Q5VRL3, Q6H6R9, Q7X7H9, Q8GY88, Q8SY96, Q8VXV7, Q8W4D6, Q944S1, Q94JS0, Q94LA4, Q9AT00
Diamond homologs: A0A7H0DN48, O36032, P0DOQ9, P0DOR0, P10575, P12309, P12864, P35754, P38068, P68690, P68691, P68692, P79764, Q32L67, Q5RC53, Q6AXW1, Q6RZN3, Q76ZV3, Q775X4, Q77TL9, Q80E01, Q8JLF5, Q8QMY9, Q8V2V1, Q923X4, Q9ESH6, Q9FVX1, Q9JVU9, Q9JY15, Q9NS18, Q9QUH0, Q9UTI2, B7ZFT1, O05957, O23417, O23419, O23420, O23421, O81187, O82255
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
25 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
607 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:193096760:CTGTT:C | acceptor_loss | 1.0000 |
| 1:193096761:T:A | acceptor_loss | 1.0000 |
| 1:193097580:TCA:T | donor_loss | 1.0000 |
| 1:193097581:CA:C | donor_loss | 1.0000 |
| 1:193097582:A:AC | donor_gain | 1.0000 |
| 1:193097582:ACAGT:A | donor_loss | 1.0000 |
| 1:193097583:C:CG | donor_gain | 1.0000 |
| 1:193097583:CA:C | donor_gain | 1.0000 |
| 1:193097583:CAG:C | donor_gain | 1.0000 |
| 1:193097583:CAGT:C | donor_gain | 1.0000 |
| 1:193097583:CAGTT:C | donor_gain | 1.0000 |
| 1:193097756:GTTTC:G | acceptor_gain | 1.0000 |
| 1:193097757:TTTC:T | acceptor_gain | 1.0000 |
| 1:193097759:TC:T | acceptor_gain | 1.0000 |
| 1:193097759:TCC:T | acceptor_loss | 1.0000 |
| 1:193097760:CC:C | acceptor_gain | 1.0000 |
| 1:193097760:CCT:C | acceptor_loss | 1.0000 |
| 1:193097761:C:CC | acceptor_gain | 1.0000 |
| 1:193097761:CTGAA:C | acceptor_loss | 1.0000 |
| 1:193097762:T:A | acceptor_loss | 1.0000 |
| 1:193101131:CATCA:C | donor_gain | 1.0000 |
| 1:193101135:A:AC | donor_gain | 1.0000 |
| 1:193101136:C:CC | donor_gain | 1.0000 |
| 1:193101136:CTCA:C | donor_gain | 1.0000 |
| 1:193101137:TCA:T | donor_loss | 1.0000 |
| 1:193101138:CAC:C | donor_loss | 1.0000 |
| 1:193101139:A:AC | donor_gain | 1.0000 |
| 1:193101139:A:T | donor_loss | 1.0000 |
| 1:193101140:C:CT | donor_gain | 1.0000 |
| 1:193101140:CT:C | donor_gain | 1.0000 |
AlphaMissense
1068 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:193096743:A:T | V126D | 0.993 |
| 1:193096745:A:C | F125L | 0.993 |
| 1:193096745:A:T | F125L | 0.993 |
| 1:193096747:A:G | F125L | 0.993 |
| 1:193096749:A:T | I124K | 0.993 |
| 1:193096758:A:T | V121D | 0.992 |
| 1:193096683:A:G | L146S | 0.991 |
| 1:193097727:A:G | S73P | 0.990 |
| 1:193096749:A:C | I124R | 0.988 |
| 1:193097704:A:C | C80W | 0.988 |
| 1:193097728:G:C | F72L | 0.987 |
| 1:193097728:G:T | F72L | 0.987 |
| 1:193097730:A:G | F72L | 0.987 |
| 1:193096755:G:T | P122Q | 0.985 |
| 1:193097729:A:G | F72S | 0.985 |
| 1:193096746:A:G | F125S | 0.984 |
| 1:193097723:T:A | K74I | 0.984 |
| 1:193096725:C:T | G132E | 0.983 |
| 1:193097738:A:T | V69E | 0.982 |
| 1:193096746:A:C | F125C | 0.980 |
| 1:193096755:G:C | P122R | 0.980 |
| 1:193097648:A:G | L99P | 0.980 |
| 1:193097684:A:G | F87S | 0.979 |
| 1:193097715:A:G | C77R | 0.979 |
| 1:193096756:G:A | P122S | 0.978 |
| 1:193097609:A:G | L112P | 0.978 |
| 1:193097609:A:T | L112H | 0.977 |
| 1:193097705:C:T | C80Y | 0.977 |
| 1:193097732:A:T | I71N | 0.977 |
| 1:193096701:A:G | L140P | 0.976 |
dbSNP variants (sampled 300 via entrez): RS1000203072 (1:193107624 C>A,G,T), RS1000217073 (1:193101683 G>A), RS1000660422 (1:193096335 T>C), RS1000776735 (1:193103496 T>A,C), RS1000956560 (1:193103152 C>A,T), RS1001312213 (1:193107576 A>G), RS1001518021 (1:193102992 T>C,G), RS1001649998 (1:193096001 T>A,G), RS1002248546 (1:193101483 A>G), RS1002259628 (1:193106756 A>C,G), RS1002336274 (1:193098235 T>A,C), RS1002452439 (1:193097998 A>C), RS1002581982 (1:193104420 A>G), RS1002589853 (1:193105519 C>A,T), RS1002621029 (1:193099232 T>C)
Disease associations
OMIM: gene MIM:606820 | 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
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 7 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| methylmercuric chloride | increases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Benzo(a)pyrene | increases expression, increases methylation | 2 |
| Cisplatin | decreases expression, affects response to substance | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol A | increases expression | 1 |
| potassium perchlorate | decreases expression | 1 |
| mono-(2-ethylhexyl)phthalate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| cupric chloride | increases expression | 1 |
| dibenzo(a,l)pyrene | decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| K 7174 | 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 | increases expression | 1 |
| dorsomorphin | 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 |
| 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 |
| Resveratrol | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Aerosols | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Cannabidiol | increases 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_B1SY | Abcam HeLa GLRX2 KO | Cancer cell line | Female |
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.