G0S2
gene geneOn this page
Summary
G0S2 (G0/G1 switch 2, HGNC:30229) is a protein-coding gene on chromosome 1q32.2, encoding G0/G1 switch protein 2 (P27469). Promotes apoptosis by binding to BCL2, hence preventing the formation of protective BCL2-BAX heterodimers.
Involved in extrinsic apoptotic signaling pathway and positive regulation of extrinsic apoptotic signaling pathway. Located in mitochondrion.
Source: NCBI Gene 50486 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 11 total
- MANE Select transcript:
NM_015714
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30229 |
| Approved symbol | G0S2 |
| Name | G0/G1 switch 2 |
| Location | 1q32.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000123689 |
| Ensembl biotype | protein_coding |
| OMIM | 614447 |
| Entrez | 50486 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000367029, ENST00000891678, ENST00000891679, ENST00000959384
RefSeq mRNA: 1 — MANE Select: NM_015714
NM_015714
CCDS: CCDS1488
Canonical transcript exons
ENST00000367029 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001010307 | 209675412 | 209675549 |
| ENSE00001443289 | 209675653 | 209676390 |
Expression profiles
Bgee: expression breadth ubiquitous, 277 present calls, max score 99.65.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 232.9790 / max 39342.2718, expressed in 1294 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 8338 | 227.6198 | 1288 |
| 8342 | 1.6548 | 290 |
| 8344 | 1.0139 | 220 |
| 8345 | 0.7462 | 201 |
| 8343 | 0.6853 | 172 |
| 8340 | 0.6311 | 175 |
| 8341 | 0.3472 | 129 |
| 8339 | 0.2808 | 104 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| vena cava | UBERON:0004087 | 99.65 | gold quality |
| synovial joint | UBERON:0002217 | 99.53 | gold quality |
| periodontal ligament | UBERON:0008266 | 99.53 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 99.22 | gold quality |
| adipose tissue | UBERON:0001013 | 99.12 | gold quality |
| pericardium | UBERON:0002407 | 99.11 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 99.04 | gold quality |
| omental fat pad | UBERON:0010414 | 98.99 | gold quality |
| peritoneum | UBERON:0002358 | 98.96 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 98.87 | gold quality |
| cartilage tissue | UBERON:0002418 | 98.84 | gold quality |
| apex of heart | UBERON:0002098 | 98.68 | gold quality |
| connective tissue | UBERON:0002384 | 98.65 | gold quality |
| right lobe of liver | UBERON:0001114 | 98.21 | gold quality |
| triceps brachii | UBERON:0001509 | 98.11 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 98.09 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.03 | gold quality |
| vastus lateralis | UBERON:0001379 | 97.99 | gold quality |
| left adrenal gland | UBERON:0001234 | 97.91 | gold quality |
| renal medulla | UBERON:0000362 | 97.75 | gold quality |
| diaphragm | UBERON:0001103 | 97.72 | gold quality |
| adrenal cortex | UBERON:0001235 | 97.72 | gold quality |
| quadriceps femoris | UBERON:0001377 | 97.40 | gold quality |
| biceps brachii | UBERON:0001507 | 97.29 | gold quality |
| right adrenal gland | UBERON:0001233 | 97.24 | gold quality |
| body of tongue | UBERON:0011876 | 97.24 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 97.12 | gold quality |
| cardiac atrium | UBERON:0002081 | 96.95 | gold quality |
| right atrium auricular region | UBERON:0006631 | 96.93 | gold quality |
| heart left ventricle | UBERON:0002084 | 96.86 | gold quality |
Single-cell (SCXA)
Detected in 15 experiment(s), a significant marker in 13.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6678 | yes | 10391.48 |
| E-MTAB-9221 | yes | 9362.11 |
| E-MTAB-9801 | yes | 8544.06 |
| E-HCAD-4 | yes | 198.40 |
| E-MTAB-8142 | yes | 89.74 |
| E-HCAD-1 | yes | 85.26 |
| E-MTAB-9467 | yes | 37.45 |
| E-CURD-46 | yes | 31.86 |
| E-HCAD-10 | yes | 22.50 |
| E-CURD-114 | yes | 20.20 |
| E-MTAB-6701 | yes | 19.01 |
| E-MTAB-10553 | yes | 5.31 |
| E-MTAB-8559 | no | 1739.29 |
| E-MTAB-7381 | no | 1104.09 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NCOR1, NFKB, PPARA, RARA, RELA
miRNA regulators (miRDB)
51 targeting G0S2, 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-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-3666 | 99.90 | 73.24 | 1833 |
| HSA-MIR-130A-3P | 99.90 | 73.31 | 1861 |
| HSA-MIR-130B-3P | 99.90 | 73.27 | 1850 |
| HSA-MIR-301A-3P | 99.90 | 73.15 | 1839 |
| HSA-MIR-301B-3P | 99.90 | 73.19 | 1836 |
| HSA-MIR-4295 | 99.90 | 73.11 | 1838 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
Literature-anchored findings (GeneRIF, showing 27)
- A novel putative target gene of PPARalpha, G0S2 (G0/G1 switch gene 2) was identified and characterized. (PMID:16086669)
- G0S2 is an all-trans-retinoic acid target gene (PMID:18636162)
- G0S2 encodes a mitochondrial protein that specifically interacts with Bcl-2 and promotes apoptosis by preventing the formation of protective Bcl-2/Bax heterodimers (PMID:19706769)
- DNA methylation of G0S2 can be an important biomarker for squamous lung cancer. (PMID:19816938)
- mRNA expression of G0S2 was regulated mainly by DNA methylation in squamous lung cancer cell lines. (PMID:19878646)
- findings are compatible with the notion that the ATGL-G0S2 complex is an important long-term regulator of lipolysis under physiological conditions such as fasting in humans (PMID:21613358)
- Reduced mRNA and protein content of Plin and G0S2 and borderline increased ATGL protein in sc adipose tissue from poorly controlled type 2 diabetic subjects. (PMID:22535977)
- Gene expression profiles showed that G0/G1 switch 2 was up-regulated in epidermolysis bullosa subtypes. (PMID:22716248)
- Data indicate that downregulation of G0S2 in adipose tissue could represent one of the underlying causes leading to increased lipolysis in the insulin-resistant state. (PMID:22891293)
- This linked G0S2 subcellular localization to G0S2 transcriptional repression. The potential mechanisms responsible for this G0S2 repression are examined. (PMID:23546556)
- reelin expression is altered by Abeta leading to impaired reelin signaling. (PMID:23951308)
- A new mechanism that controls proliferation in K562 cells, suggesting a possible tumor suppressor function for G0S2 in leukemia cells. (PMID:24183236)
- Data indicate that the peptide corresponding to residues Lys-20 to Ala-52 from G0S2 Inhibits ATGL in the nanomolar range. (PMID:25258314)
- Results indicate that G0S2 acts as a prosurvival molecule in endothelial cells. (PMID:25588877)
- Data indicate that a tumor suppressor mechanism by which G0/G1 switch gene 2 product (G0S2) directly inhibits activity of a key intracellular adipose triglyceride lipase (ATGL). (PMID:26318046)
- differences in G0S2 expression may explain depot-specific and obesity-associated differences in lipolysis on the molecular level (PMID:26707160)
- PML/RARalpha synergizes with C/EBPepsilon to reactivate the C/EBPepsilon target G0S2, thereby contributing to All-trans retinoic acid -mediated acute promyelocytic leukemia differentiation and potentially, clinical remission. (PMID:27605212)
- G0S2 functions as a master regulator of tissue-specific balance of TG storage vs. mobilization, partitioning of metabolic fuels between adipose and liver, and the whole-body adaptive energy response. (PMID:28645852)
- ER+ breast cancer cells with restored G0S2 expression had a relative increased sensitivity to tamoxifen (PMID:28910567)
- Palmitate can induce lipid accumulation in HepG2 cells by activating C/EBPbeta-mediated G0S2 expression. (PMID:29209111)
- G0S2 hypermethylation is a hallmark of rapidly recurrent or fatal ACC, amenable to targeted assessment using routine molecular diagnostics. Assessing G0S2 methylation is straightforward, feasible for clinical decision-making, and will enable the direction of efficacious adjuvant therapies for patients with aggressive ACC. (PMID:30770352)
- In addition to its role as a lipolytic inhibitor, G0S2 is capable of directly promoting TG synthesis by acting as a lipid-synthesizing enzyme. (PMID:30802154)
- We conclude that the RNF126/BAG6 complex contributes to G0S2 degradation and that interventions to prevent G0S2 degradation may offer a therapeutic strategy for managing ischemic diseases. (PMID:31371451)
- An epigenome-wide association study of posttraumatic stress disorder in US veterans implicates several new DNA methylation loci. (PMID:32171335)
- Low G0S2 gene expression levels in peripheral blood may be a genetic marker of acute myocardial infarction in patients with stable coronary atherosclerotic disease: A retrospective clinical study. (PMID:33545927)
- Gastric Cancer Growth Modulated by circSNTB2/miR-6938-5p/G0S2 and PDCD4. (PMID:36366842)
- Loss of G0/G1 switch gene 2 (G0S2) promotes disease progression and drug resistance in chronic myeloid leukaemia (CML) by disrupting glycerophospholipid metabolism. (PMID:36536477)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | g0s2 | ENSDARG00000078859 |
| mus_musculus | G0s2 | ENSMUSG00000009633 |
| rattus_norvegicus | G0s2 | ENSRNOG00000006019 |
Protein
Protein identifiers
G0/G1 switch protein 2 — P27469 (reviewed: P27469)
Alternative names: G0/G1 switch regulatory protein 2, Putative lymphocyte G0/G1 switch gene
All UniProt accessions (1): P27469
UniProt curated annotations — full annotation on UniProt →
Function. Promotes apoptosis by binding to BCL2, hence preventing the formation of protective BCL2-BAX heterodimers.
Subunit / interactions. Directly interacts with BCL2; this interaction prevents the formation of the anti-apoptotic BAX-BCL2 complex.
Subcellular location. Mitochondrion.
Tissue specificity. Widely expressed with highest levels in peripheral blood, skeletal muscle and heart, followed by kidney and liver.
Induction. Induced by TNF through the activation of the NFKB pathway.
RefSeq proteins (1): NP_056529* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR016821 | G0S2 | Family |
Pfam: PF15103
UniProt features (16 total): mutagenesis site 14, chain 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P27469-F1 | 76.60 | 0.23 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (14):
| Position | Phenotype |
|---|---|
| 50 | reduced bcl2-binding; when associated with a-51. |
| 51 | reduced bcl2-binding; when associated with a-50. |
| 54 | reduced bcl2-binding; when associated with a-55. |
| 55 | reduced bcl2-binding; when associated with a-54. |
| 57 | reduced bcl2-binding and reduced pro-apoptotic activity; when associated with a-58. no effect on mitochondrial localizat |
| 58 | reduced bcl2-binding and reduced pro-apoptotic activity; when associated with a-57. no effect on mitochondrial localizat |
| 35 | no effect on bcl2-binding; when associated with a-36. |
| 36 | no effect on bcl2-binding; when associated with a-35. |
| 38 | no effect on bcl2-binding; when associated with a-39. |
| 39 | no effect on bcl2-binding; when associated with a-38. |
| 43 | no effect on bcl2-binding; when associated with a-44. |
| 44 | no effect on bcl2-binding; when associated with a-43. |
| 45 | no effect on bcl2-binding; when associated with a-46. |
| 46 | no effect on bcl2-binding; when associated with a-45. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-1989781 | PPARA activates gene expression |
MSigDB gene sets: 361 (showing top):
TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, TSUNODA_CISPLATIN_RESISTANCE_UP, MCLACHLAN_DENTAL_CARIES_UP, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, MCBRYAN_PUBERTAL_TGFB1_TARGETS_UP, GOBP_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, TGACCTY_ERR1_Q2, KANNAN_TP53_TARGETS_DN, ZHAN_MULTIPLE_MYELOMA_CD1_UP, COUP_01, BILD_HRAS_ONCOGENIC_SIGNATURE, CEBP_Q2, GOBP_APOPTOTIC_SIGNALING_PATHWAY, RHEIN_ALL_GLUCOCORTICOID_THERAPY_UP, GOBP_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY
GO Biological Process (4): extrinsic apoptotic signaling pathway (GO:0097191), positive regulation of cold-induced thermogenesis (GO:0120162), positive regulation of extrinsic apoptotic signaling pathway (GO:2001238), apoptotic process (GO:0006915)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (2): mitochondrion (GO:0005739), lipid droplet (GO:0005811)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Regulation of lipid metabolism by PPARalpha | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| apoptotic signaling pathway | 2 |
| cell surface receptor signaling pathway | 1 |
| positive regulation of multicellular organismal process | 1 |
| cold-induced thermogenesis | 1 |
| regulation of cold-induced thermogenesis | 1 |
| extrinsic apoptotic signaling pathway | 1 |
| positive regulation of apoptotic signaling pathway | 1 |
| regulation of extrinsic apoptotic signaling pathway | 1 |
| programmed cell death | 1 |
| execution phase of apoptosis | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1082 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| G0S2 | PNPLA2 | Q96AD5 | 886 |
| G0S2 | ABHD5 | Q8WTS1 | 736 |
| G0S2 | BCL2 | P10415 | 732 |
| G0S2 | LIPE | Q05469 | 589 |
| G0S2 | CIDEC | Q96AQ7 | 531 |
| G0S2 | PLIN1 | O60240 | 529 |
| G0S2 | HILPDA | Q9Y5L2 | 525 |
| G0S2 | MGLL | Q99685 | 487 |
| G0S2 | NUCLEOLIN | P19338 | 449 |
| G0S2 | PLIN2 | Q99541 | 443 |
| G0S2 | GADD45G | O95257 | 436 |
| G0S2 | FITM1 | A5D6W6 | 419 |
| G0S2 | VNN1 | O95497 | 414 |
| G0S2 | LY6D | Q14210 | 409 |
| G0S2 | PCTP | Q9UKL6 | 408 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BCL2L2 | G0S2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BCL2L1 | G0S2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| G0S2 | BCL2L2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| G0S2 | BCL2L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| G0S2 | RPL30 | psi-mi:“MI:0915”(physical association) | 0.370 |
| G0S2 | OIP5 | psi-mi:“MI:0914”(association) | 0.350 |
| G0S2 | UGT8 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (22): PNPLA2 (Affinity Capture-Western), BCL2L2 (Two-hybrid), BCL2L1 (Two-hybrid), G0S2 (Phenotypic Suppression), G0S2 (Biochemical Activity), MTHFR (Affinity Capture-MS), OIP5 (Affinity Capture-MS), RNF20 (Affinity Capture-MS), SUSD1 (Affinity Capture-MS), PNPLA2 (Affinity Capture-MS), MIS18A (Affinity Capture-MS), USP16 (Affinity Capture-MS), FERMT2 (Affinity Capture-MS), NEBL (Affinity Capture-MS), ANKRD54 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GUI7, A0A1D8PTI7, A0A1L8H579, A0A1L8HCK2, A0A1W2PPG7, A1DL98, A1X8D9, A6NF36, P0DMK0, P0DUP1, P20290, P24051, P27469, P31790, P33716, P36826, P55833, P57076, P68968, P68969, P82014, Q28GG3, Q28HY7, Q2U6N1, Q3KPU7, Q3T0B7, Q4V853, Q58CS6, Q5RA87, Q5RGZ1, Q5U3Z0, Q5XIC3, Q5YKI7, Q63603, Q64152, Q66KZ1, Q6AX78, Q6DRC3, Q6PK57, Q6ZWY3
Diamond homologs: P27469, Q5M840, Q61585
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
11 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 9 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
70 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:209675545:CTAAG:C | donor_loss | 1.0000 |
| 1:209675546:TAAGG:T | donor_loss | 1.0000 |
| 1:209675548:AGG:A | donor_loss | 1.0000 |
| 1:209675549:GGTAG:G | donor_loss | 1.0000 |
| 1:209675648:TGCA:T | acceptor_loss | 1.0000 |
| 1:209675649:GCA:G | acceptor_loss | 1.0000 |
| 1:209675651:A:AG | acceptor_gain | 1.0000 |
| 1:209675651:A:AT | acceptor_loss | 1.0000 |
| 1:209675652:G:GG | acceptor_gain | 1.0000 |
| 1:209675652:G:GT | acceptor_loss | 1.0000 |
| 1:209675652:GGTC:G | acceptor_gain | 1.0000 |
| 1:209675550:GT:G | donor_loss | 0.9900 |
| 1:209675651:AG:A | acceptor_gain | 0.9900 |
| 1:209675652:GG:G | acceptor_gain | 0.9900 |
| 1:209675652:GGT:G | acceptor_gain | 0.9900 |
| 1:209675652:GGTCA:G | acceptor_gain | 0.9900 |
| 1:209675550:G:T | donor_gain | 0.9800 |
| 1:209675648:T:A | acceptor_gain | 0.9800 |
| 1:209675639:T:A | acceptor_gain | 0.9700 |
| 1:209675545:C:CG | donor_gain | 0.9500 |
| 1:209675550:G:GG | donor_gain | 0.9100 |
| 1:209675545:C:G | donor_gain | 0.8600 |
| 1:209675475:C:A | donor_gain | 0.8000 |
| 1:209675541:GCCAC:G | donor_gain | 0.7500 |
| 1:209675548:AG:A | donor_gain | 0.7300 |
| 1:209675549:GG:G | donor_gain | 0.7300 |
| 1:209675636:T:A | acceptor_gain | 0.6900 |
| 1:209675759:GCT:G | donor_gain | 0.6200 |
| 1:209675648:TGCAG:T | acceptor_gain | 0.5900 |
| 1:209675649:GCAGG:G | acceptor_gain | 0.5900 |
AlphaMissense
653 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:209675775:A:C | S31R | 0.983 |
| 1:209675777:C:A | S31R | 0.983 |
| 1:209675777:C:G | S31R | 0.983 |
| 1:209675794:G:A | G37D | 0.964 |
| 1:209675772:G:C | G30R | 0.955 |
| 1:209675773:G:A | G30D | 0.950 |
| 1:209675785:C:A | A34D | 0.949 |
| 1:209675793:G:C | G37R | 0.946 |
| 1:209675782:T:G | L33R | 0.896 |
| 1:209675763:T:G | Y27D | 0.882 |
| 1:209675716:C:A | A11D | 0.879 |
| 1:209675809:T:C | L42P | 0.861 |
| 1:209675788:T:G | L35R | 0.848 |
| 1:209675707:T:C | I8T | 0.835 |
| 1:209675767:T:A | V28E | 0.831 |
| 1:209675782:T:A | L33Q | 0.831 |
| 1:209675809:T:G | L42R | 0.831 |
| 1:209675788:T:A | L35H | 0.823 |
| 1:209675805:G:C | G41R | 0.823 |
| 1:209675779:T:A | V32E | 0.784 |
| 1:209675704:T:C | L7P | 0.782 |
| 1:209675823:T:C | C47R | 0.781 |
| 1:209675797:T:A | V38E | 0.770 |
| 1:209675763:T:A | Y27N | 0.765 |
| 1:209675803:T:A | L40H | 0.762 |
| 1:209675800:T:A | V39E | 0.759 |
| 1:209675809:T:A | L42Q | 0.759 |
| 1:209675776:G:A | S31N | 0.751 |
| 1:209675821:T:A | V46E | 0.751 |
| 1:209675759:G:C | K25N | 0.742 |
dbSNP variants (sampled 300 via entrez): RS1000897849 (1:209674777 A>G), RS1001206405 (1:209676423 G>A), RS1001703605 (1:209676732 C>A,T), RS1001861463 (1:209674961 C>T), RS1002313207 (1:209675450 G>T), RS1002503624 (1:209674702 TCTCTCTCTCA>T), RS1002667384 (1:209675326 G>A), RS1005097335 (1:209676835 G>A), RS1005935004 (1:209673871 G>C,T), RS1005971284 (1:209673814 T>C), RS1006400046 (1:209674127 C>T), RS1007168529 (1:209674737 C>A,T), RS1007614218 (1:209675520 G>A), RS1008779613 (1:209675502 C>T), RS1008832034 (1:209675739 C>G,T)
Disease associations
OMIM: gene MIM:614447 | 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
114 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression, increases expression | 6 |
| Valproic Acid | affects cotreatment, increases expression, decreases expression | 6 |
| Air Pollutants | affects expression, increases abundance, increases expression, decreases expression | 5 |
| Benzo(a)pyrene | increases expression, increases methylation, decreases expression | 4 |
| Estradiol | affects cotreatment, decreases expression, increases expression | 4 |
| Tretinoin | increases expression | 4 |
| Particulate Matter | decreases expression, affects cotreatment, increases abundance, increases expression | 4 |
| arsenite | increases reaction, decreases expression, increases methylation, affects binding | 3 |
| sodium arsenite | decreases expression, increases expression, affects acetylation, affects methylation | 3 |
| monomethylarsonous acid | affects acetylation, affects methylation, decreases expression, increases methylation | 3 |
| Cadmium | increases expression, increases methylation, decreases expression | 3 |
| Diethylstilbestrol | increases expression, decreases expression | 3 |
| Formaldehyde | decreases expression, increases expression | 3 |
| Progesterone | increases expression, affects cotreatment, decreases expression, affects expression, decreases reaction | 3 |
| Silicon Dioxide | increases expression | 3 |
| Smoke | increases abundance, increases expression, decreases expression | 3 |
| Cyclosporine | decreases expression, increases expression | 3 |
| Aflatoxin B1 | affects expression, decreases expression | 3 |
| Genistein | affects expression, increases expression | 3 |
| perfluorooctanoic acid | affects expression, decreases reaction, increases expression | 2 |
| perfluorooctane sulfonic acid | decreases expression, increases expression | 2 |
| bisphenol S | increases expression | 2 |
| Rosiglitazone | decreases expression, increases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Calcitriol | increases expression | 2 |
| Dexamethasone | increases expression, affects cotreatment | 2 |
| Lipopolysaccharides | affects response to substance, increases expression | 2 |
| Oxygen | decreases expression, decreases reaction | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tamoxifen | affects cotreatment, affects reaction, increases expression, affects expression | 2 |
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.