GMEB1
gene geneOn this page
Also known as P96PIFPIF96
Summary
GMEB1 (glucocorticoid modulatory element binding protein 1, HGNC:4370) is a protein-coding gene on chromosome 1p35.3, encoding Glucocorticoid modulatory element-binding protein 1 (Q9Y692). Acts as a DNA-binding transcriptional regulator involved in modulating the expression of genes responsive to glucocorticoid signaling.
This gene encodes a member of KDWK gene family which associates with GMEB2 protein. The GMEB1-GMEB2 complex is essential for parvovirus DNA replication. Studies in rat for a similar gene suggest that this gene’s role is to modulate the transactivation of the glucocorticoid receptor when it is bound to glucocorticoid response elements. Three alternative spliced transcript variants encoding different isoforms exist.
Source: NCBI Gene 10691 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 66 total
- MANE Select transcript:
NM_001319674
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4370 |
| Approved symbol | GMEB1 |
| Name | glucocorticoid modulatory element binding protein 1 |
| Location | 1p35.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | P96PIF, PIF96 |
| Ensembl gene | ENSG00000162419 |
| Ensembl biotype | protein_coding |
| OMIM | 604409 |
| Entrez | 10691 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 25 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000294409, ENST00000361872, ENST00000373816, ENST00000480454, ENST00000853890, ENST00000853891, ENST00000853892, ENST00000853893, ENST00000853894, ENST00000853895, ENST00000853896, ENST00000853897, ENST00000853898, ENST00000853899, ENST00000940222, ENST00000940223, ENST00000940224, ENST00000940225, ENST00000940226, ENST00000940227, ENST00000940228, ENST00000941581, ENST00000941582, ENST00000941583, ENST00000941584, ENST00000941585
RefSeq mRNA: 3 — MANE Select: NM_001319674
NM_001319674, NM_006582, NM_024482
CCDS: CCDS327, CCDS328
Canonical transcript exons
ENST00000373816 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001204758 | 28668784 | 28668839 |
| ENSE00001204768 | 28683583 | 28683740 |
| ENSE00001436096 | 28690104 | 28690186 |
| ENSE00001461655 | 28714073 | 28719353 |
| ENSE00003468817 | 28710520 | 28710642 |
| ENSE00003580428 | 28704192 | 28704329 |
| ENSE00003615771 | 28692942 | 28693045 |
| ENSE00003627684 | 28702438 | 28702569 |
| ENSE00003664454 | 28691585 | 28691709 |
| ENSE00003671890 | 28696927 | 28697084 |
Expression profiles
Bgee: expression breadth ubiquitous, 257 present calls, max score 86.44.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.5088 / max 71.7681, expressed in 1772 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 1827 | 7.4163 | 1755 |
| 1826 | 1.0925 | 731 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 86.44 | gold quality |
| secondary oocyte | CL:0000655 | 85.72 | gold quality |
| buccal mucosa cell | CL:0002336 | 84.86 | silver quality |
| cortical plate | UBERON:0005343 | 84.72 | gold quality |
| tibia | UBERON:0000979 | 83.84 | gold quality |
| visceral pleura | UBERON:0002401 | 82.89 | gold quality |
| ganglionic eminence | UBERON:0004023 | 82.46 | gold quality |
| monocyte | CL:0000576 | 82.37 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.29 | gold quality |
| leukocyte | CL:0000738 | 82.25 | gold quality |
| mononuclear cell | CL:0000842 | 82.21 | gold quality |
| parietal pleura | UBERON:0002400 | 82.19 | gold quality |
| amniotic fluid | UBERON:0000173 | 82.11 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 82.09 | gold quality |
| blood | UBERON:0000178 | 81.56 | gold quality |
| calcaneal tendon | UBERON:0003701 | 81.55 | gold quality |
| pleura | UBERON:0000977 | 81.07 | gold quality |
| tendon | UBERON:0000043 | 80.34 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 80.11 | gold quality |
| oocyte | CL:0000023 | 79.88 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 79.77 | gold quality |
| stromal cell of endometrium | CL:0002255 | 79.63 | gold quality |
| islet of Langerhans | UBERON:0000006 | 79.05 | gold quality |
| ventricular zone | UBERON:0003053 | 78.98 | gold quality |
| gingival epithelium | UBERON:0001949 | 78.85 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 78.69 | gold quality |
| nasopharynx | UBERON:0001728 | 78.68 | gold quality |
| eye | UBERON:0000970 | 78.65 | gold quality |
| bone marrow | UBERON:0002371 | 77.95 | gold quality |
| triceps brachii | UBERON:0001509 | 77.42 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6058 | no | 262.22 |
| E-ANND-3 | no | 4.76 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| PER2 | |
| TAT |
miRNA regulators (miRDB)
43 targeting GMEB1, 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-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-3912-5P | 99.95 | 66.11 | 925 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-4648 | 99.91 | 67.00 | 710 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-5093 | 99.67 | 69.26 | 2291 |
| HSA-MIR-6832-3P | 99.52 | 70.44 | 1726 |
| HSA-MIR-6833-5P | 99.50 | 68.93 | 1161 |
| HSA-MIR-520A-5P | 99.35 | 66.72 | 1632 |
| HSA-MIR-525-5P | 99.35 | 66.85 | 1615 |
| HSA-MIR-504-3P | 99.30 | 67.18 | 1745 |
| HSA-MIR-6878-3P | 99.24 | 64.23 | 920 |
| HSA-MIR-4426 | 99.17 | 66.74 | 1949 |
| HSA-MIR-6734-3P | 99.15 | 66.27 | 1627 |
| HSA-MIR-935 | 98.82 | 69.36 | 1072 |
Literature-anchored findings (GeneRIF, showing 6)
- consensus DNA recognition motif for two KDWK transcription factors identifies flexible-length, CpG-methylation sensitive cognate binding sites in the majority of human promoters (PMID:11743720)
- 1.55 A resolution crystal structure of a central portion of GMEB1, encompassing its SAND domain (PMID:12702733)
- GMEB1 is capable of binding to the prodomain of caspase-2; findings indicated that GMEB1 might be an endogenous inhibitory protein that selectively interacts with prodomain of caspase-2 to disrupt the autoactivation (PMID:15555560)
- GMEB1 is an endogenous regulator that selectively binds to initiator procaspases and inhibits caspase-induced apoptosis (PMID:16497673)
- GMEB1 effectively attenuated caspase activation and apoptosis caused by these stresses in human neuroblastoma SK-N-MC cells, indicating that it functions as a potent inhibitor of caspase activation and apoptosis in response to oxidative stress. (PMID:18455874)
- Our findings show the de-ubiquitinase USP40 regulates the ubiquitination and degradation of CFLARL; and GMEB1 acts as a bridge protein for USP40 and CFLARL. Mechanistically, we found GMEB1 inhibits the activation of CASP8 by modulating ubiquitination and degradation of CFLARL (PMID:31046799)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gmeb1 | ENSDARG00000062060 |
| mus_musculus | Gmeb1 | ENSMUSG00000028901 |
| rattus_norvegicus | Gmeb1 | ENSRNOG00000010910 |
| caenorhabditis_elegans | WBGENE00007732 | |
| caenorhabditis_elegans | WBGENE00008092 | |
| caenorhabditis_elegans | WBGENE00010010 | |
| caenorhabditis_elegans | WBGENE00015285 |
Paralogs (1): GMEB2 (ENSG00000101216)
Protein
Protein identifiers
Glucocorticoid modulatory element-binding protein 1 — Q9Y692 (reviewed: Q9Y692)
Alternative names: DNA-binding protein p96PIF, Parvovirus initiation factor p96
All UniProt accessions (2): B1AT47, Q9Y692
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a DNA-binding transcriptional regulator involved in modulating the expression of genes responsive to glucocorticoid signaling. Specifically binds AT-rich DNA motifs known as glucocorticoid modulatory elements (GMEs), repressing or enhancing transcription depending on cellular context. Forms heterodimeric complexes with GMEB2, which enhances its DNA-binding specificity and transcriptional activity. This complex plays a critical role in the repression of glucocorticoid receptor (GR/NR3C1) transcriptional activity, acting as a negative modulator of glucocorticoid signaling. Regulates dopamine-enriched midbrain genes, including tyrosine hydroxylase/TH and the dopamine transporter SLC6A3, essential for dopamine signaling. Also binds the transferrin receptor promoter. In the cytoplasm, inhibits caspase activation and neuronal apoptosis by stabilizing CFLARL and blocking pro-caspase 8 activation.
Subunit / interactions. Homodimer, and heterodimer with GMEB2. GMEB1 and GMEB2 form the parvovirus initiator complex (PIF). Interacts with the glucocorticoid receptor (NR3C1) and NCOA2/TIF2. May interact with HSP27 and CREB-binding protein (CBP). Interacts with USP40 and CFLAR; these interactions allow USP40-mediated CFLAR deubiquitination. Interacts with TRAF3; this interaction enhances the anti-apoptotic activity of GMEB1.
Subcellular location. Nucleus. Cytoplasm.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y692-1 | 1 | yes |
| Q9Y692-2 | 2 |
RefSeq proteins (3): NP_001306603, NP_006573, NP_077808 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000770 | SAND_dom | Domain |
| IPR010919 | SAND-like_dom_sf | Homologous_superfamily |
| IPR059099 | GMEB1/2/Spe-44_dom | Domain |
Pfam: PF01342, PF25892
UniProt features (30 total): binding site 8, strand 5, helix 5, sequence conflict 3, initiator methionine 1, chain 1, modified residue 1, splice variant 1, sequence variant 1, domain 1, turn 1, region of interest 1, coiled-coil region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1OQJ | X-RAY DIFFRACTION | 1.55 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y692-F1 | 57.89 | 0.26 |
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 (8): 170; 174; 178; 113; 139; 143; 146; 157
Post-translational modifications (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 126 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, chr1p35, GOMF_HEAT_SHOCK_PROTEIN_BINDING, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, WANG_RESPONSE_TO_GSK3_INHIBITOR_SB216763_DN, GOBP_POSITIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOMF_DNA_BINDING_TRANSCRIPTION_ACTIVATOR_ACTIVITY, ATF2_S_UP.V1_DN, IWANAGA_CARCINOGENESIS_BY_KRAS_PTEN_UP, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, ATF5_TARGET_GENES, CBX7_TARGET_GENES, E2F2_TARGET_GENES, GLI3_TARGET_GENES, NFE2L1_TARGET_GENES
GO Biological Process (3): regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of apoptotic process (GO:0043066), positive regulation of transcription by RNA polymerase II (GO:0045944)
GO Molecular Function (12): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), protein-macromolecule adaptor activity (GO:0030674), identical protein binding (GO:0042802), metal ion binding (GO:0046872), Hsp27 protein binding (GO:0051008), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565)
GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| cellular anatomical structure | 3 |
| regulation of DNA-templated transcription | 2 |
| transcription by RNA polymerase II | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| protein binding | 2 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| negative regulation of programmed cell death | 1 |
| positive regulation of DNA-templated transcription | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| molecular adaptor activity | 1 |
| cation binding | 1 |
| heat shock protein binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| binding | 1 |
| DNA binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
790 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GMEB1 | TFRC | P02786 | 647 |
| GMEB1 | HSPB2 | Q16082 | 605 |
| GMEB1 | HSPB1 | P04792 | 557 |
| GMEB1 | HSPB3 | Q12988 | 553 |
| GMEB1 | AIRE | O43918 | 462 |
| GMEB1 | NRIP1 | P48552 | 460 |
| GMEB1 | YIPF1 | Q9Y548 | 450 |
| GMEB1 | TAT | P17735 | 415 |
| GMEB1 | TRIM54 | Q9BYV2 | 394 |
| GMEB1 | HIBADH | P31937 | 379 |
| GMEB1 | ITGB5 | P18084 | 375 |
| GMEB1 | NR3C1 | P04150 | 358 |
| GMEB1 | SF3A2 | Q15428 | 347 |
| GMEB1 | UBE2I | P50550 | 347 |
| GMEB1 | ZBTB11 | O95625 | 343 |
IntAct
48 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SDC2 | PDPK1 | psi-mi:“MI:0914”(association) | 0.640 |
| SSRP1 | H3C1 | psi-mi:“MI:0914”(association) | 0.610 |
| CD44 | PDPK1 | psi-mi:“MI:0914”(association) | 0.530 |
| TRAF3 | GMEB1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| GMEB1 | GMEB2 | psi-mi:“MI:0915”(physical association) | 0.500 |
| GPC1 | SNAP23 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GPC1 | GANAB | psi-mi:“MI:0915”(physical association) | 0.400 |
| GMEB1 | NS | psi-mi:“MI:0915”(physical association) | 0.370 |
| NS1 | GMEB1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NS2 | GMEB1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NS | GMEB1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| GMEB1 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| GMEB1 | UBE2I | psi-mi:“MI:0915”(physical association) | 0.370 |
| IFNA14 | GMEB1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| GMEB1 | SMAD3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ATF7IP | GMEB1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SMAD1 | GMEB1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| GMEB1 | SNIP1 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (61): GMEB1 (Two-hybrid), GMEB1 (Two-hybrid), GMEB1 (Two-hybrid), GMEB1 (Reconstituted Complex), GMEB1 (Affinity Capture-Western), GMEB2 (Affinity Capture-MS), GMEB1 (Affinity Capture-MS), GMEB1 (Affinity Capture-MS), MATN4 (Affinity Capture-MS), DHRS2 (Affinity Capture-MS), WDR54 (Affinity Capture-MS), GMEB1 (Affinity Capture-MS), GMEB1 (Affinity Capture-MS), GMEB1 (Two-hybrid), GMEB1 (Affinity Capture-Western)
ESM2 similar proteins: A0JMF8, B1WAV2, F2Z3T4, O02818, O77627, O88873, O93602, P05411, P05412, P05627, P12981, P15336, P16951, P17325, P18870, P22415, P31367, P48381, P54864, P56432, P58929, P79703, Q00969, Q04073, Q07956, Q07957, Q0V989, Q0V9K5, Q16656, Q24312, Q2HJ87, Q2TAL8, Q32NR3, Q4R3I8, Q4V872, Q502P7, Q58A65, Q5EAP5, Q5FWL0, Q61069
Diamond homologs: O75398, O77562, O88450, O88873, P58929, Q18171, Q24180, Q2HJ87, Q3KRF1, Q8BVK9, Q921C6, Q9JL60, Q9QUZ8, Q9UKD1, Q9Y692, Q9Z1T5, P23497, Q13342, A9CPT4, Q09415, Q9BXT4, Q9H930, Q9N1Q5, Q9VU41, Q9HB58, Q99388, A2A8L1, D3ZD32, F4KBP5, O15164, O16102, O43918, O96028, O97159, Q09698, Q12830, Q14839, Q5SPL2, Q64127, Q6E2N3
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 48 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 |
|---|---|---|---|
| Diseases associated with glycosaminoglycan metabolism | 5 | 119.0× | 5e-08 |
| Attachment and Entry | 5 | 93.9× | 1e-07 |
| Defective B4GALT7 causes EDS, progeroid type | 5 | 89.2× | 1e-07 |
| Defective B3GAT3 causes JDSSDHD | 5 | 89.2× | 1e-07 |
| Defective B3GALT6 causes EDSP2 and SEMDJL1 | 5 | 89.2× | 1e-07 |
| HS-GAG degradation | 5 | 77.6× | 2e-07 |
| Respiratory syncytial virus (RSV) attachment and entry | 5 | 77.6× | 2e-07 |
| Initiation of coagulation cascade | 5 | 74.3× | 2e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cell migration | 6 | 9.0× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
66 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 55 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1422 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:28668836:GACG:G | donor_gain | 1.0000 |
| 1:28668838:CGG:C | donor_loss | 1.0000 |
| 1:28668840:G:GG | donor_gain | 1.0000 |
| 1:28683582:GCA:G | acceptor_gain | 1.0000 |
| 1:28690072:A:AG | acceptor_gain | 1.0000 |
| 1:28690073:G:GG | acceptor_gain | 1.0000 |
| 1:28690073:GTTT:G | acceptor_gain | 1.0000 |
| 1:28691576:T:A | acceptor_gain | 1.0000 |
| 1:28691583:A:AG | acceptor_gain | 1.0000 |
| 1:28691584:G:GC | acceptor_gain | 1.0000 |
| 1:28691584:GA:G | acceptor_gain | 1.0000 |
| 1:28691584:GAT:G | acceptor_gain | 1.0000 |
| 1:28691584:GATA:G | acceptor_gain | 1.0000 |
| 1:28691584:GATAC:G | acceptor_gain | 1.0000 |
| 1:28691709:GGTAA:G | donor_loss | 1.0000 |
| 1:28691710:GTA:G | donor_loss | 1.0000 |
| 1:28691711:T:A | donor_loss | 1.0000 |
| 1:28692934:A:AG | acceptor_gain | 1.0000 |
| 1:28692935:C:G | acceptor_gain | 1.0000 |
| 1:28692938:TTA:T | acceptor_loss | 1.0000 |
| 1:28692939:TA:T | acceptor_loss | 1.0000 |
| 1:28692940:A:AG | acceptor_gain | 1.0000 |
| 1:28692941:G:GG | acceptor_gain | 1.0000 |
| 1:28692941:GT:G | acceptor_gain | 1.0000 |
| 1:28692941:GTT:G | acceptor_gain | 1.0000 |
| 1:28692941:GTTC:G | acceptor_gain | 1.0000 |
| 1:28692941:GTTCA:G | acceptor_gain | 1.0000 |
| 1:28693042:TCAGG:T | donor_loss | 1.0000 |
| 1:28693043:CAGG:C | donor_loss | 1.0000 |
| 1:28693046:G:GA | donor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000005795 (1:28668261 A>T), RS1000015565 (1:28705882 C>T), RS1000079220 (1:28706217 G>A,C,T), RS1000137848 (1:28715138 C>G), RS1000154731 (1:28673366 C>T), RS1000241276 (1:28686476 A>C,G), RS1000243431 (1:28673121 C>G,T), RS1000260096 (1:28690953 C>A,G,T), RS1000283385 (1:28693135 T>C), RS1000297301 (1:28699629 C>G), RS1000417269 (1:28668901 C>A,G,T), RS1000469180 (1:28667920 G>T), RS1000511847 (1:28715416 G>A), RS1000519712 (1:28704007 C>G,T), RS1000604722 (1:28668085 T>C)
Disease associations
OMIM: gene MIM:604409 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90002379_3 | Basophil count | 4.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005090 | basophil count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 3 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases stability | 2 |
| Tretinoin | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| manganese chloride | increases abundance, affects cotreatment, decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| monomethylarsonous acid | decreases expression | 1 |
| abrine | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Doxorubicin | decreases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Methapyrilene | decreases methylation | 1 |
| Rotenone | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tunicamycin | decreases expression | 1 |
| Urethane | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Cadmium Chloride | decreases expression | 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.