LY6E
gene geneOn this page
Also known as TSA-1RIG-ESCA-2
Summary
LY6E (lymphocyte antigen 6 family member E, HGNC:6727) is a protein-coding gene on chromosome 8q24.3, encoding Lymphocyte antigen 6E (Q16553). GPI-anchored cell surface protein that regulates T-lymphocytes proliferation, differentiation, and activation.
This gene belongs to the human Ly6 gene family and encodes a glycosylphosphatidyl-inositol (GPI)-anchored cell surface protein. The protein plays an important role in T cell physiology, oncogenesis and immunological regulation. The protein is also involved in modulation of viral infection by coronaviruses, SARS-CoV, MERS-CoV and SARS-CoV-2.
Source: NCBI Gene 4061 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 38 total
- Druggable target: yes
- MANE Select transcript:
NM_002346
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6727 |
| Approved symbol | LY6E |
| Name | lymphocyte antigen 6 family member E |
| Location | 8q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TSA-1, RIG-E, SCA-2 |
| Ensembl gene | ENSG00000160932 |
| Ensembl biotype | protein_coding |
| OMIM | 601384 |
| Entrez | 4061 |
Gene structure
Transcript identifiers
Ensembl transcripts: 50 — 49 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000292494, ENST00000429120, ENST00000517503, ENST00000519546, ENST00000519611, ENST00000519615, ENST00000520466, ENST00000520531, ENST00000521003, ENST00000521182, ENST00000521699, ENST00000522024, ENST00000522528, ENST00000522971, ENST00000523847, ENST00000891132, ENST00000891133, ENST00000891134, ENST00000891135, ENST00000891136, ENST00000891137, ENST00000891138, ENST00000891139, ENST00000891140, ENST00000891141, ENST00000891142, ENST00000891143, ENST00000891144, ENST00000891145, ENST00000891146, ENST00000891147, ENST00000891148, ENST00000891149, ENST00000891150, ENST00000891151, ENST00000891152, ENST00000891153, ENST00000891154, ENST00000891155, ENST00000891156, ENST00000891157, ENST00000891158, ENST00000891159, ENST00000891160, ENST00000891161, ENST00000891162, ENST00000891163, ENST00000964930, ENST00000964931, ENST00000964932
RefSeq mRNA: 2 — MANE Select: NM_002346
NM_001127213, NM_002346
CCDS: CCDS6394
Canonical transcript exons
ENST00000292494 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001141198 | 143020883 | 143020991 |
| ENSE00002101953 | 143018529 | 143018586 |
| ENSE00003469314 | 143021314 | 143021433 |
| ENSE00003603930 | 143021566 | 143022409 |
Expression profiles
Bgee: expression breadth ubiquitous, 145 present calls, max score 99.16.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 181.7059 / max 2217.2817, expressed in 1817 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 91372 | 146.4860 | 1808 |
| 91371 | 32.1694 | 1798 |
| 91375 | 1.6558 | 889 |
| 91374 | 1.2860 | 718 |
| 91370 | 0.1087 | 36 |
Top tissues by expression
145 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 99.16 | gold quality |
| granulocyte | CL:0000094 | 99.04 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 98.95 | gold quality |
| liver | UBERON:0002107 | 98.83 | gold quality |
| stromal cell of endometrium | CL:0002255 | 98.81 | gold quality |
| placenta | UBERON:0001987 | 98.78 | gold quality |
| right ovary | UBERON:0002118 | 98.70 | gold quality |
| right lung | UBERON:0002167 | 98.66 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 98.66 | gold quality |
| Ammon’s horn | UBERON:0001954 | 98.63 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.63 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.61 | gold quality |
| endocervix | UBERON:0000458 | 98.60 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.58 | gold quality |
| apex of heart | UBERON:0002098 | 98.55 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.52 | gold quality |
| nucleus accumbens | UBERON:0001882 | 98.51 | gold quality |
| frontal cortex | UBERON:0001870 | 98.50 | gold quality |
| putamen | UBERON:0001874 | 98.50 | gold quality |
| ectocervix | UBERON:0012249 | 98.50 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.49 | gold quality |
| right uterine tube | UBERON:0001302 | 98.46 | gold quality |
| prefrontal cortex | UBERON:0000451 | 98.45 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 98.44 | gold quality |
| spleen | UBERON:0002106 | 98.42 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 98.41 | gold quality |
| left uterine tube | UBERON:0001303 | 98.37 | gold quality |
| caudate nucleus | UBERON:0001873 | 98.37 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 98.37 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.34 | gold quality |
Single-cell (SCXA)
Detected in 13 experiment(s), a significant marker in 11.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10287 | yes | 108.44 |
| E-HCAD-4 | yes | 58.47 |
| E-GEOD-134144 | yes | 48.65 |
| E-CURD-112 | yes | 22.63 |
| E-HCAD-6 | yes | 20.51 |
| E-ANND-3 | yes | 17.07 |
| E-MTAB-9388 | yes | 14.40 |
| E-MTAB-8142 | yes | 14.34 |
| E-CURD-46 | yes | 13.62 |
| E-HCAD-1 | yes | 12.17 |
| E-MTAB-8498 | yes | 9.88 |
| E-HCAD-13 | no | 1241.67 |
| E-MTAB-10283 | no | 269.38 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): HMGA1, HMGA2, POU2F1, POU2F2
miRNA regulators (miRDB)
27 targeting LY6E, 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-4713-3P | 100.00 | 65.92 | 505 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-1200 | 99.71 | 70.42 | 1838 |
| HSA-MIR-6715B-5P | 99.64 | 69.63 | 1420 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-9851-3P | 99.63 | 69.68 | 1110 |
| HSA-MIR-4269 | 99.55 | 69.89 | 1373 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-593-5P | 99.34 | 69.50 | 965 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
| HSA-MIR-5787 | 99.22 | 67.86 | 2628 |
| HSA-MIR-1909-3P | 99.03 | 66.56 | 1662 |
| HSA-MIR-1304-5P | 98.90 | 68.58 | 1054 |
| HSA-MIR-4260 | 98.78 | 65.37 | 848 |
| HSA-MIR-4742-3P | 98.73 | 69.82 | 1803 |
| HSA-MIR-1227-5P | 98.65 | 65.32 | 1549 |
| HSA-MIR-637 | 97.91 | 64.05 | 1517 |
| HSA-MIR-3652 | 97.71 | 65.43 | 1890 |
| HSA-MIR-4430 | 97.47 | 65.61 | 1813 |
Literature-anchored findings (GeneRIF, showing 18)
- Increased expression of the type I interferon-inducible gene, lymphocyte antigen 6 complex locus E, in peripheral blood cells is predictive of lupus activity in a large cohort of Chinese lupus patients. (PMID:18755862)
- Two SCA3 and one SCA2 cases have been identified which show autosomal dominant inheritance in Parkinson disease. (PMID:18990604)
- This study suggested that a mutation in SCA2 or SCA3/MJD may be one of the genetic causes of Parkinson’s disease in china. (PMID:19672991)
- the LY6E pathway in monocytes represents one of negative feedback mechanisms that counterbalance monocyte activation which may serve as a potential target for immune intervention. (PMID:25225669)
- LY6E level of gene expression may serve as good biomarkers for systemic lupus erythematosus diagnosis. (PMID:25344775)
- LY6E overexpression is associated with Breast Cancer Progression, Immune Escape, and Drug Resistance. (PMID:27197181)
- High LY6E expression is associated with breast cancer. (PMID:27589564)
- LY6E is a positive modulator of HIV-1 infection in primary human peripheral blood mononuclear cells, immortalized CD4+ T lymphoid cells, and macrophages. HIV Long Terminal Repeat-driven HIV-1 gene expression is also enhanced by LY6E, suggesting additional roles of LY6E in HIV-1 replication. (PMID:28130445)
- LY6E knockdown by targeted-siRNA inhibited gastric cancer cell survival and proliferation and induced G1-S cell cycle arrest and apoptosis in gastric cancer cells (PMID:29448250)
- LY6E belongs to a growing class of interferon-inducible factors that broadly enhance viral infectivity in an interferon-independent manner. (PMID:30190477)
- LY6E downregulates the cell surface receptor CD4. (PMID:30674630)
- A Phase I Study of DLYE5953A, an Anti-LY6E Antibody Covalently Linked to Monomethyl Auristatin E, in Patients with Refractory Solid Tumors. (PMID:32694157)
- Protein LY6E as a candidate for mediating transport of adeno-associated virus across the human blood-brain barrier. (PMID:32839948)
- alpha5-nAChR associated with Ly6E modulates cell migration via TGF-beta1/Smad signaling in non-small cell lung cancer. (PMID:34994389)
- Multidimension Analysis of the Prognostic Value, Immune Regulatory Function, and ceRNA Network of LY6E in Individuals with Colorectal Cancer. (PMID:35310607)
- LY6E protein facilitates adeno-associated virus crossing in a biomimetic chip model of the human blood-brain barrier. (PMID:36165190)
- Innovative biomarkers TCN2 and LY6E can significantly inhibit respiratory syncytial virus infection. (PMID:39313785)
- Exploring Molecular Drivers of PARPi Resistance in BRCA1-Deficient Ovarian Cancer: The Role of LY6E and Immunomodulation. (PMID:39408764)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Ly6e | ENSMUSG00000022587 |
| rattus_norvegicus | Ly6e | ENSRNOG00000007091 |
Paralogs (2): PSCA (ENSG00000167653), GPIHBP1 (ENSG00000277494)
Protein
Protein identifiers
Lymphocyte antigen 6E — Q16553 (reviewed: Q16553)
Alternative names: Retinoic acid-induced gene E protein, Stem cell antigen 2, Thymic shared antigen 1
All UniProt accessions (6): Q16553, E5RGI6, E5RI33, E5RI58, E5RIQ1, E7EWF8
UniProt curated annotations — full annotation on UniProt →
Function. GPI-anchored cell surface protein that regulates T-lymphocytes proliferation, differentiation, and activation. Regulates the T-cell receptor (TCR) signaling by interacting with component CD3Z/CD247 at the plasma membrane, leading to CD3Z/CD247 phosphorylation modulation. Restricts the entry of human coronaviruses, including SARS-CoV, MERS-CoV and SARS-CoV-2, by interfering with spike protein-mediated membrane fusion. Also plays an essential role in placenta formation by acting as the main receptor for syncytin-A (SynA). Therefore, participates in the normal fusion of syncytiotrophoblast layer I (SynT-I) and in the proper morphogenesis of both fetal and maternal vasculatures within the placenta. May also act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. (Microbial infection) Promotes entry, likely through an enhanced virus-cell fusion process, of various viruses including HIV-1, West Nile virus, dengue virus and Zika virus. In contrast, the paramyxovirus PIV5, which enters at the plasma membrane, does not require LY6E. Mechanistically, adopts a microtubule-like organization upon viral infection and enhances viral uncoating after endosomal escape.
Subunit / interactions. Interacts with CHRNA4.
Subcellular location. Cell membrane.
Tissue specificity. Widely expressed, predominantly in liver, kidney, ovary, spleen and peripheral blood Leukocytes.
Induction. By retinoic acid; in promyelocytic leukemia NB4 and in myeloblast HL-60 cell lines. Activated by IFN-alpha in monocytic cell line U-937 and in peripheral blood monocyte cells.
RefSeq proteins (2): NP_001120685, NP_002337* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR016054 | LY6_UPA_recep-like | Domain |
| IPR035076 | Toxin/TOLIP | Domain |
| IPR045860 | Snake_toxin-like_sf | Homologous_superfamily |
| IPR051110 | Ly-6/neurotoxin-like_GPI-ap | Family |
Pfam: PF00087
UniProt features (14 total): disulfide bond 5, mutagenesis site 3, signal peptide 1, chain 1, propeptide 1, domain 1, lipid moiety-binding region 1, glycosylation site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q16553-F1 | 77.97 | 0.32 |
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 (1): 101
Disulfide bonds (5): 93–98, 23–48, 26–35, 41–71, 75–92
Glycosylation sites (1): 99
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 36 | complete loss of viral entry enhancement. abolishes inhibition of human coronaviruses entry. |
| 57 | about 50% loss of viral entry enhancement. |
| 99 | abolishes inhibition of human coronaviruses entry. |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-163125 | Post-translational modification: synthesis of GPI-anchored proteins |
| R-HSA-9918485 | Dengue Virus Attachment and Entry |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-597592 | Post-translational protein modification |
MSigDB gene sets: 342 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_UP, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, YAGI_AML_WITH_INV_16_TRANSLOCATION, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, ENK_UV_RESPONSE_KERATINOCYTE_UP, MODULE_64, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_PAPILLOMA_RISK_LOW_UP, GOBP_MODULATION_OF_PROCESS_OF_ANOTHER_ORGANISM, DARWICHE_PAPILLOMA_RISK_HIGH_UP, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP
GO Biological Process (3): cell surface receptor signaling pathway (GO:0007166), host-mediated suppression of symbiont invasion (GO:0046597), acetylcholine receptor signaling pathway (GO:0095500)
GO Molecular Function (3): acetylcholine receptor inhibitor activity (GO:0030550), acetylcholine receptor binding (GO:0033130), protein binding (GO:0005515)
GO Cellular Component (5): extracellular region (GO:0005576), plasma membrane (GO:0005886), synapse (GO:0045202), side of membrane (GO:0098552), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
| Dengue Virus Infection | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| acetylcholine receptor activity | 2 |
| membrane | 2 |
| signal transduction | 1 |
| innate immune response | 1 |
| host-mediated perturbation of symbiont process | 1 |
| postsynaptic signal transduction | 1 |
| cellular response to acetylcholine | 1 |
| signaling receptor inhibitor activity | 1 |
| acetylcholine receptor regulator activity | 1 |
| signaling receptor binding | 1 |
| binding | 1 |
| cell periphery | 1 |
| cell junction | 1 |
| leaflet of membrane bilayer | 1 |
Protein interactions and networks
STRING
820 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LY6E | PSCA | O43653 | 896 |
| LY6E | IFI44L | Q53G44 | 710 |
| LY6E | IFI6 | P09912 | 686 |
| LY6E | OAS1 | P00973 | 673 |
| LY6E | RSPH1 | Q8WYR4 | 656 |
| LY6E | MX1 | P20591 | 607 |
| LY6E | EPSTI1 | Q96J88 | 592 |
| LY6E | IFI44 | Q8TCB0 | 582 |
| LY6E | ISG15 | P05161 | 580 |
| LY6E | IFIT3 | O14879 | 574 |
| LY6E | CD59 | P13987 | 561 |
| LY6E | RSAD2 | Q8WXG1 | 541 |
| LY6E | IFITM3 | Q01628 | 530 |
| LY6E | IFIT1 | P09914 | 524 |
| LY6E | ERVW-1 | Q9UQF0 | 522 |
IntAct
17 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TUSC5 | LY6E | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM19 | LY6E | psi-mi:“MI:0915”(physical association) | 0.560 |
| LY6E | TMEM19 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LY6E | MFSD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LY6E | TMEM140 | psi-mi:“MI:0915”(physical association) | 0.560 |
| rep | LY6E | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC22A1 | FNDC10 | psi-mi:“MI:0914”(association) | 0.350 |
| MFSD6 | LY6E | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMEM140 | LY6E | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (22): CD247 (Affinity Capture-Western), LY6E (Affinity Capture-RNA), LY6E (Two-hybrid), LY6E (Two-hybrid), LY6E (Two-hybrid), TUSC5 (Two-hybrid), LY6E (Affinity Capture-RNA), LY6E (Two-hybrid), PHB (Affinity Capture-MS), HSP90AA1 (Affinity Capture-MS), HSP90AB1 (Affinity Capture-MS), EEF1G (Affinity Capture-MS), EIF4A1 (Affinity Capture-MS), PHB (Affinity Capture-Western), HSP90AA1 (Affinity Capture-Western)
ESM2 similar proteins: B3MFC2, B3NSF6, B4QBL6, B5A5T4, B5E022, D3ZTT2, D4A6L0, H3BQJ8, O43653, P12645, P19438, P22444, P23352, P46657, P49002, P50555, P57096, P58658, P58659, Q16553, Q1RMB5, Q28216, Q32LD3, Q505J3, Q568T5, Q5R510, Q5T848, Q66IA6, Q68US5, Q6UWL2, Q6UWN0, Q6UX15, Q6WN34, Q80XH4, Q86Y78, Q8BHE5, Q8BPP5, Q8BVP6, Q8C351, Q8C419
Diamond homologs: A0JNB3, O94772, P0DTL4, Q16553, Q4R5M8, Q63317, Q90986, Q9WU67, Q9WUC3, O43653, P0DP58, P57096, Q6UXB3, H3BJG9, P05533, P0CW02, P0CW03, P35460, P35461, Q64253, A0A346CIB2, Q9DD23, P55000, Q9Z0K7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
38 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 19 |
| Likely benign | 2 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
998 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:143020989:GAGGT:G | donor_loss | 1.0000 |
| 8:143020991:GG:G | donor_loss | 1.0000 |
| 8:143020992:G:GC | donor_loss | 1.0000 |
| 8:143021309:C:A | acceptor_gain | 1.0000 |
| 8:143021312:A:AG | acceptor_gain | 1.0000 |
| 8:143021313:G:GA | acceptor_gain | 1.0000 |
| 8:143021313:GCC:G | acceptor_gain | 1.0000 |
| 8:143021313:GCCA:G | acceptor_gain | 1.0000 |
| 8:143021431:TTG:T | donor_gain | 1.0000 |
| 8:143021431:TTGGT:T | donor_loss | 1.0000 |
| 8:143021432:TG:T | donor_gain | 1.0000 |
| 8:143021432:TGG:T | donor_loss | 1.0000 |
| 8:143021433:GG:G | donor_gain | 1.0000 |
| 8:143021434:G:GA | donor_loss | 1.0000 |
| 8:143021434:G:GG | donor_gain | 1.0000 |
| 8:143021435:TGAG:T | donor_loss | 1.0000 |
| 8:143018696:G:GT | donor_gain | 0.9900 |
| 8:143018974:G:T | donor_gain | 0.9900 |
| 8:143020881:A:AG | acceptor_gain | 0.9900 |
| 8:143020882:G:GG | acceptor_gain | 0.9900 |
| 8:143020882:G:T | acceptor_gain | 0.9900 |
| 8:143020882:GA:G | acceptor_gain | 0.9900 |
| 8:143020882:GAGCA:G | acceptor_gain | 0.9900 |
| 8:143020987:GCGAG:G | donor_gain | 0.9900 |
| 8:143021308:CCGCA:C | acceptor_loss | 0.9900 |
| 8:143021309:CGCAG:C | acceptor_loss | 0.9900 |
| 8:143021310:GCAG:G | acceptor_loss | 0.9900 |
| 8:143021311:CAGC:C | acceptor_loss | 0.9900 |
| 8:143021312:AG:A | acceptor_loss | 0.9900 |
| 8:143021313:GC:G | acceptor_gain | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000146671 (8:143016732 T>A,C), RS1001490623 (8:143017043 G>A), RS1002229761 (8:143018122 C>T), RS1002353141 (8:143020526 A>T), RS1002899792 (8:143017956 C>A,G), RS1003257317 (8:143020803 C>T), RS1003624371 (8:143019405 G>T), RS1003638150 (8:143019716 A>T), RS1004060446 (8:143019659 G>A,C), RS1004845844 (8:143022257 G>A), RS1005066347 (8:143016623 T>C), RS1005153751 (8:143020491 C>A), RS1005169132 (8:143016675 A>C), RS1005444732 (8:143017033 G>C), RS1006070634 (8:143017826 G>A)
Disease associations
OMIM: gene MIM:601384 | 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: yes
ChEMBL targets (1): CHEMBL4523584 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
60 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tretinoin | decreases reaction, affects cotreatment, increases expression, increases reaction | 6 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 5 |
| Cyclosporine | increases expression, decreases expression | 3 |
| Arsenic Trioxide | decreases reaction, increases expression, affects cotreatment | 2 |
| Estradiol | affects cotreatment, decreases expression, increases expression | 2 |
| Plant Extracts | decreases expression, affects cotreatment | 2 |
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| bisphenol A | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| 2-bromopalmitate | increases expression, increases reaction | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| potassium chromate(VI) | increases expression | 1 |
| hydroquinone | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| tamibarotene | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| (+)-JQ1 compound | decreases 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 | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 1 spontaneously immortalized cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E6R4 | Genomeditech CHO-K1 H_LY6E | Spontaneously immortalized cell line | Female |
| CVCL_E6UH | Genomeditech HEK-293 H_LY6E | Transformed 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.