GTSE1
gene geneOn this page
Also known as GTSE-1B99Lnc_bc060912
Summary
GTSE1 (G2 and S-phase expressed 1, HGNC:13698) is a protein-coding gene on chromosome 22q13.31, encoding G2 and S phase-expressed protein 1 (Q9NYZ3). May be involved in p53-induced cell cycle arrest in G2/M phase by interfering with microtubule rearrangements that are required to enter mitosis. It is a selective cancer dependency (DepMap: 16.1% of cell lines).
The protein encoded by this gene is only expressed in the S and G2 phases of the cell cycle, where it colocalizes with cytoplasmic tubulin and microtubules. In response to DNA damage, the encoded protein accumulates in the nucleus and binds the tumor suppressor protein p53, shuttling it out of the nucleus and repressing its ability to induce apoptosis.
Source: NCBI Gene 51512 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 164 total — 1 pathogenic
- Cancer dependency (DepMap): dependent in 16.1% of screened cell lines
- MANE Select transcript:
NM_016426
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13698 |
| Approved symbol | GTSE1 |
| Name | G2 and S-phase expressed 1 |
| Location | 22q13.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GTSE-1, B99, Lnc_bc060912 |
| Ensembl gene | ENSG00000075218 |
| Ensembl biotype | protein_coding |
| OMIM | 607477 |
| Entrez | 51512 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 5 protein_coding, 3 retained_intron
ENST00000454366, ENST00000466510, ENST00000479645, ENST00000491863, ENST00000905433, ENST00000926490, ENST00000926491, ENST00000926492
RefSeq mRNA: 1 — MANE Select: NM_016426
NM_016426
CCDS: CCDS14074
Canonical transcript exons
ENST00000454366 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000657293 | 46308319 | 46308943 |
| ENSE00000657295 | 46312141 | 46312305 |
| ENSE00000657296 | 46313890 | 46314013 |
| ENSE00000657297 | 46316032 | 46316412 |
| ENSE00000657299 | 46328688 | 46328889 |
| ENSE00000657300 | 46329358 | 46329567 |
| ENSE00000880795 | 46308150 | 46308207 |
| ENSE00001627638 | 46296870 | 46296931 |
| ENSE00001736507 | 46330047 | 46330810 |
| ENSE00002692897 | 46297380 | 46297479 |
| ENSE00003545305 | 46326436 | 46326654 |
| ENSE00003599035 | 46323190 | 46323262 |
Expression profiles
Bgee: expression breadth ubiquitous, 277 present calls, max score 97.54.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.1307 / max 75.9628, expressed in 1210 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 192807 | 5.2261 | 1147 |
| 192808 | 0.4563 | 310 |
| 192806 | 0.4328 | 213 |
| 192809 | 0.0155 | 3 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| trabecular bone tissue | UBERON:0002483 | 97.54 | gold quality |
| buccal mucosa cell | CL:0002336 | 96.67 | gold quality |
| pancreatic ductal cell | CL:0002079 | 96.41 | gold quality |
| periodontal ligament | UBERON:0008266 | 96.38 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 96.07 | gold quality |
| sperm | CL:0000019 | 94.82 | gold quality |
| cardia of stomach | UBERON:0001162 | 94.72 | gold quality |
| male germ cell | CL:0000015 | 94.54 | silver quality |
| ventricular zone | UBERON:0003053 | 94.29 | gold quality |
| endothelial cell | CL:0000115 | 94.13 | gold quality |
| pylorus | UBERON:0001166 | 94.01 | gold quality |
| nipple | UBERON:0002030 | 93.91 | gold quality |
| vena cava | UBERON:0004087 | 93.75 | gold quality |
| secondary oocyte | CL:0000655 | 93.41 | gold quality |
| renal medulla | UBERON:0000362 | 93.26 | gold quality |
| ventral tegmental area | UBERON:0002691 | 93.12 | silver quality |
| oocyte | CL:0000023 | 93.00 | gold quality |
| superior surface of tongue | UBERON:0007371 | 92.73 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 92.57 | silver quality |
| inferior vagus X ganglion | UBERON:0005363 | 92.21 | silver quality |
| trachea | UBERON:0003126 | 92.18 | silver quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 92.15 | silver quality |
| pericardium | UBERON:0002407 | 91.88 | silver quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 91.72 | silver quality |
| pons | UBERON:0000988 | 91.71 | silver quality |
| trigeminal ganglion | UBERON:0001675 | 91.68 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 91.67 | gold quality |
| embryo | UBERON:0000922 | 91.46 | gold quality |
| tongue | UBERON:0001723 | 91.42 | silver quality |
| superior vestibular nucleus | UBERON:0007227 | 91.42 | silver quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10485 | yes | 525.98 |
| E-MTAB-8271 | yes | 270.87 |
| E-HCAD-10 | yes | 24.78 |
| E-CURD-88 | yes | 5.17 |
| E-ANND-3 | yes | 3.42 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
29 targeting GTSE1, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-7845-5P | 99.88 | 64.88 | 771 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-6512-3P | 99.65 | 66.07 | 1468 |
| HSA-MIR-6720-5P | 99.65 | 66.22 | 1459 |
| HSA-MIR-543 | 99.52 | 69.03 | 2595 |
| HSA-MIR-4437 | 99.52 | 65.29 | 1266 |
| HSA-MIR-766-3P | 99.47 | 65.24 | 1811 |
| HSA-MIR-939-3P | 98.97 | 65.07 | 2347 |
| HSA-MIR-135A-2-3P | 98.40 | 66.74 | 442 |
| HSA-MIR-135B-3P | 98.40 | 67.35 | 426 |
| HSA-MIR-3977 | 98.00 | 68.17 | 1500 |
| HSA-MIR-4446-3P | 97.91 | 64.29 | 991 |
| HSA-MIR-1255B-2-3P | 97.80 | 67.04 | 880 |
| HSA-MIR-6849-3P | 97.25 | 64.57 | 1371 |
| HSA-MIR-4690-3P | 97.02 | 64.72 | 981 |
| HSA-MIR-5685 | 97.02 | 64.34 | 1004 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 16.1% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 24)
- GTSE-1 controls DNA damage-induced apoptosis by affecting p53 function (PMID:12750368)
- requires an intact nuclear export signal and functional Mdm2 for the regulation of p53 (PMID:14707141)
- hGTSE-1 mediated-p21(CIP1/WAF1) stabilization is clearly involved in the ability of cells to counteract cytotoxicity induced by the microtubule poison paclitaxel. (PMID:20018861)
- Data show that G2 and S-phase-expressed 1 (GTSE1) protein, a negative regulator of p53, is required for G2 checkpoint recovery and that Plk1 phosphorylation of GTSE1 promotes its nuclear localization. (PMID:20577264)
- GTSE1 is overexpressed dramatically in lung cancer patients’ tissues. (PMID:22292647)
- GTSE1 is a microtubule plus-end tracking protein that regulates EB1-dependent cell migration. (PMID:23236459)
- Study identifies GTSE1 as a biomarker for cisplatin resistance in gastric cancer cells and suggests its repressive role in cisplatin induced apoptosis making it a potential therapeutic target for better clinical management of gastric cancer patients. (PMID:26209226)
- Results indicated for the first time that overexpression of GTSE1 was involved in the progress of HCC, enhancing proliferation and promoting cell invasion in HCC cells. (PMID:27240802)
- GTSE1 inhibition of MCAK activity regulates the balance of MT stability that determines the fidelity of chromosome alignment, segregation, and chromosomal stability. (PMID:27881713)
- High expression of GTSE1 is commonly noted in hepatocellular carcinoma (HCC) and is closely correlated with migration and invasion by epithelial-to-mesenchymal transition modulation. Activated GTSE1 significantly interferes with chemotherapy efficacy and influences the probability of survival of patients with HCC. (PMID:28698581)
- GTSE1 is expressed exclusively in late G2 and M phase. From nuclear envelope breakdown until anaphase onset, GTSE1 binds preferentially to the most stable mitotic spindle microtubules and promotes their turnover. (PMID:28821562)
- G2 and S-phase expressed 1 (GTSE1) expression promotes AM progression and correlates with clinical outcomes of patients with acral melanoma (AM), and may represent a promising therapeutic target to suppress AM progression. (PMID:29660787)
- Knockdown of GTSE1 obviously suppressed the proliferation, migration, and invasion capacity whereas increasing GTSE1 led to the opposite trend, which suggested that GTSE1 could serve as a potential therapeutic target for bladder cancer. GTSE1 overexpression in bladder cancer might participate in the regulation of FoxM1/CCNB1 expression via the induction of the transfer of p53 to cytoplasm (PMID:30414902)
- Authors found that GTSE1 could regulate the p53 function to alter the cell cycle distribution dependent on the mutation state of p53. Results reveal that GTSE1 played a key role in the progression of breast cancer. (PMID:30961661)
- GTSE1, together with CDC20, PCNA, and MCM6, may synergistically promote adverse prognosis in hepatocellular carcinoma by activating cell cycle. (PMID:32082966)
- GTSE1 promotes prostate cancer cell proliferation via the SP1/FOXM1 signaling pathway. (PMID:33328578)
- Destabilization of Long Astral Microtubules via Cdk1-Dependent Removal of GTSE1 from Their Plus Ends Facilitates Prometaphase Spindle Orientation. (PMID:33333009)
- GTSE1 promotes SNAIL1 degradation by facilitating its nuclear export in hepatocellular carcin oma cells. (PMID:33880590)
- G2 and S phase-expressed-1 acts as a putative tumor promoter in cervical cancer by enhancing Wnt/beta-catenin signaling via modulation of GSK-3beta. (PMID:33974332)
- GTSE1 Facilitates the Malignant Phenotype of Lung Cancer Cells via Activating AKT/mTOR Signaling. (PMID:34007784)
- MiR-509-3-5p inhibits colon cancer malignancy by suppressing GTSE1. (PMID:34284144)
- Downregulation of GTSE1 leads to the inhibition of proliferation, migration, and Warburg effect in cervical cancer by blocking LHDA expression. (PMID:34482592)
- GTSE1 is possibly involved in the DNA damage repair and cisplatin resistance in osteosarcoma. (PMID:34876170)
- GTSE1: A potential prognostic and diagnostic biomarker in various tumors including lung adenocarcinoma. (PMID:38715380)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gtse1 | ENSDARG00000013719 |
| mus_musculus | Gtse1 | ENSMUSG00000022385 |
| rattus_norvegicus | Gtse1 | ENSRNOG00000016148 |
Paralogs (1): PSRC1 (ENSG00000134222)
Protein
Protein identifiers
G2 and S phase-expressed protein 1 — Q9NYZ3 (reviewed: Q9NYZ3)
Alternative names: Protein B99 homolog
All UniProt accessions (1): Q9NYZ3
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in p53-induced cell cycle arrest in G2/M phase by interfering with microtubule rearrangements that are required to enter mitosis. Overexpression delays G2/M phase progression.
Subcellular location. Cytoplasm. Cytoskeleton.
Post-translational modifications. Phosphorylated in mitosis.
RefSeq proteins (1): NP_057510* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026657 | DDA3/GTSE-1 | Family |
| IPR032768 | GTSE1_N | Domain |
Pfam: PF15259
UniProt features (59 total): modified residue 28, compositionally biased region 12, sequence variant 9, sequence conflict 5, region of interest 4, chain 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6QNN | X-RAY DIFFRACTION | 2.03 |
| 6QNP | X-RAY DIFFRACTION | 2.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NYZ3-F1 | 51.66 | 0.02 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (28): 91, 157, 159, 171, 187, 208, 247, 262, 331, 480, 485, 496, 499, 514, 520, 523, 528, 532, 535, 555 …
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-69481 | G2/M Checkpoints |
| R-HSA-8852276 | The role of GTSE1 in G2/M progression after G2 checkpoint |
MSigDB gene sets: 230 (showing top):
MODULE_52, MULLIGHAN_NPM1_SIGNATURE_3_UP, HORIUCHI_WTAP_TARGETS_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, MORF_MSH3, MORF_BRCA1, MORF_ATRX, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, MODULE_16, XU_HGF_SIGNALING_NOT_VIA_AKT1_48HR_DN, SHEPARD_BMYB_MORPHOLINO_DN, GOLDRATH_ANTIGEN_RESPONSE, PUJANA_CHEK2_PCC_NETWORK, MODULE_118
GO Biological Process (2): microtubule-based process (GO:0007017), DNA damage response, signal transduction by p53 class mediator (GO:0030330)
GO Molecular Function (2): microtubule binding (GO:0008017), protein binding (GO:0005515)
GO Cellular Component (8): nucleoplasm (GO:0005654), cytosol (GO:0005829), cytoplasmic microtubule (GO:0005881), microtubule cytoskeleton (GO:0015630), membrane (GO:0016020), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), microtubule (GO:0005874)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Cell Cycle Checkpoints | 1 |
| G2/M Transition | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| cytoplasm | 2 |
| cellular process | 1 |
| signal transduction in response to DNA damage | 1 |
| signal transduction by p53 class mediator | 1 |
| tubulin binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| microtubule | 1 |
| cytoskeleton | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| microtubule cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
Protein interactions and networks
STRING
1936 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GTSE1 | TP53 | P04637 | 779 |
| GTSE1 | MELK | Q14680 | 534 |
| GTSE1 | BIRC5 | O15392 | 514 |
| GTSE1 | HJURP | Q8NCD3 | 505 |
| GTSE1 | DLGAP5 | Q15398 | 502 |
| GTSE1 | CDCA2 | Q69YH5 | 496 |
| GTSE1 | UBE2C | O00762 | 460 |
| GTSE1 | CCNB2 | O95067 | 447 |
| GTSE1 | KIF2C | Q99661 | 434 |
| GTSE1 | CDC25C | P30307 | 414 |
| GTSE1 | FKBP5 | Q13451 | 410 |
| GTSE1 | H1-8 | Q8IZA3 | 406 |
| GTSE1 | TOPORS | Q9NS56 | 403 |
| GTSE1 | TOP2A | P11388 | 403 |
| GTSE1 | TACC3 | Q9Y6A5 | 401 |
IntAct
118 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GGA1 | IGF2R | psi-mi:“MI:0915”(physical association) | 0.830 |
| KBTBD7 | METTL15 | psi-mi:“MI:0914”(association) | 0.730 |
| STAMBP | PIK3C2A | psi-mi:“MI:0914”(association) | 0.730 |
| PPP2R3A | WTIP | psi-mi:“MI:0914”(association) | 0.640 |
| STAMBPL1 | PIK3C2A | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAG | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAE | PIK3C2A | psi-mi:“MI:0914”(association) | 0.570 |
| YWHAH | BLTP3B | psi-mi:“MI:0914”(association) | 0.570 |
| PLK1 | GTSE1 | psi-mi:“MI:0403”(colocalization) | 0.570 |
| PLK1 | GTSE1 | psi-mi:“MI:0915”(physical association) | 0.570 |
| GTSE1 | PLK1 | psi-mi:“MI:0915”(physical association) | 0.570 |
| PLK1 | GTSE1 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.570 |
| CLTC | psi-mi:“MI:0915”(physical association) | 0.540 | |
| GGA1 | GTSE1 | psi-mi:“MI:0407”(direct interaction) | 0.540 |
| KPTN | EIF4G3 | psi-mi:“MI:0914”(association) | 0.530 |
| GTSE1 | GAST | psi-mi:“MI:0914”(association) | 0.530 |
| PICALM | PIK3C2A | psi-mi:“MI:0914”(association) | 0.530 |
| BCAR3 | GAST | psi-mi:“MI:0914”(association) | 0.530 |
| PNMA2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.530 |
| KIAA0753 | OFD1 | psi-mi:“MI:2364”(proximity) | 0.480 |
| DDX21 | MED19 | psi-mi:“MI:2364”(proximity) | 0.480 |
| ECE1 | GTSE1 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (260): GTSE1 (Affinity Capture-MS), GTSE1 (Affinity Capture-MS), GTSE1 (Proximity Label-MS), GTSE1 (Proximity Label-MS), GTSE1 (Proximity Label-MS), GTSE1 (Proximity Label-MS), GTSE1 (Proximity Label-MS), GTSE1 (Proximity Label-MS), GTSE1 (Proximity Label-MS), GTSE1 (Proximity Label-MS), GTSE1 (Proximity Label-MS), GTSE1 (Affinity Capture-MS), AP2A1 (Affinity Capture-MS), AP2A2 (Affinity Capture-MS), AP1B1 (Affinity Capture-MS)
ESM2 similar proteins: A0A8I5ZM56, A2AG50, A2AI08, A2AJI0, A5D7K1, D4A4L4, E1C2Q8, F1LR10, O00515, O14529, O75128, O88573, O88735, P51825, P57016, Q14244, Q32LQ1, Q3KQU3, Q3U2K0, Q5JTD0, Q5NBX1, Q5PR69, Q5R7F9, Q5XHX2, Q5ZIA2, Q5ZJJ1, Q68DK7, Q6IPM2, Q6NV74, Q6NZF1, Q6PDH0, Q6PDM1, Q6PG95, Q6ZU35, Q86UU1, Q8CCJ4, Q8K124, Q8N7J2, Q8TD55, Q96PV7
Diamond homologs: Q8R080, Q9NYZ3
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PLK1 | up-regulates | GTSE1 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 146 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| RHO GTPases activate PKNs | 6 | 19.8× | 3e-05 |
| Golgi Associated Vesicle Biogenesis | 8 | 16.7× | 2e-06 |
| Signaling by ALK fusions and activated point mutants | 10 | 15.7× | 4e-07 |
| Loss of Nlp from mitotic centrosomes | 9 | 14.9× | 2e-06 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 9 | 14.9× | 2e-06 |
| AURKA Activation by TPX2 | 9 | 14.3× | 2e-06 |
| Recruitment of mitotic centrosome proteins and complexes | 9 | 12.8× | 3e-06 |
| Regulation of PLK1 Activity at G2/M Transition | 9 | 11.9× | 4e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| clathrin coat assembly | 6 | 42.2× | 4e-06 |
| clathrin-dependent endocytosis | 5 | 23.1× | 1e-03 |
| mitotic spindle organization | 6 | 12.9× | 2e-03 |
| actin filament organization | 8 | 7.5× | 2e-03 |
| intracellular protein localization | 9 | 7.5× | 1e-03 |
| endocytosis | 8 | 6.0× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
164 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 120 |
| Likely benign | 24 |
| Benign | 9 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2684939 | GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3 | Pathogenic |
SpliceAI
1758 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:46296930:GG:G | donor_gain | 1.0000 |
| 22:46296931:GG:G | donor_gain | 1.0000 |
| 22:46296932:G:GG | donor_gain | 1.0000 |
| 22:46296932:GTA:G | donor_loss | 1.0000 |
| 22:46297476:G:GT | donor_gain | 1.0000 |
| 22:46297516:G:GT | donor_gain | 1.0000 |
| 22:46308313:A:AG | acceptor_gain | 1.0000 |
| 22:46308314:A:G | acceptor_gain | 1.0000 |
| 22:46308317:A:AG | acceptor_gain | 1.0000 |
| 22:46308317:AGT:A | acceptor_gain | 1.0000 |
| 22:46308318:G:GA | acceptor_gain | 1.0000 |
| 22:46308318:GT:G | acceptor_gain | 1.0000 |
| 22:46308318:GTG:G | acceptor_gain | 1.0000 |
| 22:46308318:GTGC:G | acceptor_gain | 1.0000 |
| 22:46308318:GTGCA:G | acceptor_gain | 1.0000 |
| 22:46312139:A:AG | acceptor_gain | 1.0000 |
| 22:46312139:AGC:A | acceptor_loss | 1.0000 |
| 22:46312140:G:GA | acceptor_loss | 1.0000 |
| 22:46312140:G:GG | acceptor_gain | 1.0000 |
| 22:46312302:CAAGG:C | donor_loss | 1.0000 |
| 22:46312304:AGGTG:A | donor_loss | 1.0000 |
| 22:46312305:GGT:G | donor_loss | 1.0000 |
| 22:46312306:G:C | donor_loss | 1.0000 |
| 22:46312307:T:A | donor_loss | 1.0000 |
| 22:46313876:A:AG | acceptor_gain | 1.0000 |
| 22:46313877:C:G | acceptor_gain | 1.0000 |
| 22:46313878:A:AG | acceptor_gain | 1.0000 |
| 22:46313878:ATTTT:A | acceptor_gain | 1.0000 |
| 22:46313879:T:G | acceptor_gain | 1.0000 |
| 22:46313882:T:TA | acceptor_gain | 1.0000 |
AlphaMissense
4766 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000139163 (22:46315868 C>G,T), RS1000143121 (22:46310166 C>T), RS1000209156 (22:46311470 A>G), RS1000228756 (22:46324623 T>A), RS1000277612 (22:46294877 C>T), RS1000328704 (22:46298756 G>A), RS1000384712 (22:46329946 G>A,T), RS1000396332 (22:46325938 C>T), RS1000431603 (22:46309931 C>G,T), RS1000463821 (22:46324464 T>A), RS1000472131 (22:46320976 C>G,T), RS1000498002 (22:46299106 T>C), RS1000544279 (22:46314764 T>C,G), RS1000554260 (22:46315164 T>A), RS1000635283 (22:46299351 C>T)
Disease associations
OMIM: gene MIM:607477 | 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
91 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects expression, decreases expression, affects cotreatment, increases abundance, increases expression | 5 |
| Cyclosporine | decreases expression | 4 |
| methylmercuric chloride | increases expression, affects cotreatment | 3 |
| Arsenic | affects cotreatment, decreases expression, increases abundance, increases expression, increases methylation | 3 |
| bisphenol A | decreases expression, affects cotreatment | 2 |
| cobaltous chloride | decreases expression | 2 |
| Resveratrol | affects cotreatment, increases expression, decreases expression | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| Copper | affects binding, decreases expression | 2 |
| Coumestrol | affects cotreatment, increases expression, affects reaction | 2 |
| Dexamethasone | increases expression, affects cotreatment, decreases expression | 2 |
| Doxorubicin | decreases expression, affects response to substance | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Tretinoin | decreases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| Aflatoxin B1 | decreases expression, increases methylation | 2 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| trichostatin A | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| rutecarpine | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.