RASGRP4
gene geneOn this page
Summary
RASGRP4 (RAS guanyl releasing protein 4, HGNC:18958) is a protein-coding gene on chromosome 19q13.2, encoding RAS guanyl-releasing protein 4 (Q8TDF6). Functions as a cation- and diacylglycerol (DAG)-regulated nucleotide exchange factor activating Ras through the exchange of bound GDP for GTP.
The protein encoded by this gene is a member of the Ras guanyl nucleotide-releasing protein (RasGRP) family of Ras guanine nucleotide exchange factors. It contains a Ras exchange motif, a diacylglycerol-binding domain, and two calcium-binding EF hands. This protein was shown to activate H-Ras in a cation-dependent manner in vitro. Expression of this protein in myeloid cell lines was found to be correlated with elevated level of activated RAS protein, and the RAS activation can be greatly enhanced by phorbol ester treatment, which suggested a role of this protein in diacylglycerol regulated cell signaling pathways. Studies of a mast cell leukemia cell line expressing substantial amounts of abnormal transcripts of this gene indicated that this gene may play an important role in the final stages of mast cell development. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 115727 — RefSeq curated summary.
At a glance
- GWAS associations: 13
- Clinical variants (ClinVar): 106 total
- MANE Select transcript:
NM_170604
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18958 |
| Approved symbol | RASGRP4 |
| Name | RAS guanyl releasing protein 4 |
| Location | 19q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000171777 |
| Ensembl biotype | protein_coding |
| OMIM | 607320 |
| Entrez | 115727 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 8 protein_coding, 6 retained_intron, 2 nonsense_mediated_decay
ENST00000454404, ENST00000586305, ENST00000587287, ENST00000587738, ENST00000587753, ENST00000588404, ENST00000588708, ENST00000589100, ENST00000589358, ENST00000589474, ENST00000592322, ENST00000614135, ENST00000615340, ENST00000615439, ENST00000617966, ENST00000622174
RefSeq mRNA: 7 — MANE Select: NM_170604
NM_001146202, NM_001146203, NM_001146204, NM_001146205, NM_001146206, NM_001146207, NM_170604
CCDS: CCDS46068, CCDS59382, CCDS59383, CCDS59384
Canonical transcript exons
ENST00000615439 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003458725 | 38412672 | 38412816 |
| ENSE00003466129 | 38411115 | 38411249 |
| ENSE00003497835 | 38412931 | 38413049 |
| ENSE00003528456 | 38409058 | 38410096 |
| ENSE00003540931 | 38420131 | 38420262 |
| ENSE00003545161 | 38413193 | 38413297 |
| ENSE00003550654 | 38413394 | 38413474 |
| ENSE00003558223 | 38418391 | 38418564 |
| ENSE00003563032 | 38421969 | 38422153 |
| ENSE00003608772 | 38410886 | 38410998 |
| ENSE00003616989 | 38411345 | 38411381 |
| ENSE00003629996 | 38414848 | 38415123 |
| ENSE00003669772 | 38417052 | 38417168 |
| ENSE00003675378 | 38419860 | 38420013 |
| ENSE00003851095 | 38426069 | 38426219 |
| ENSE00003889067 | 38420908 | 38420970 |
| ENSE00003895406 | 38421095 | 38421200 |
Expression profiles
Bgee: expression breadth ubiquitous, 153 present calls, max score 94.35.
FANTOM5 (CAGE): breadth broad, TPM avg 5.5811 / max 489.2848, expressed in 523 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 180776 | 5.0155 | 510 |
| 180774 | 0.3170 | 88 |
| 180775 | 0.2379 | 79 |
| 180772 | 0.0107 | 4 |
Top tissues by expression
244 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 94.35 | gold quality |
| leukocyte | CL:0000738 | 93.74 | gold quality |
| monocyte | CL:0000576 | 93.70 | gold quality |
| blood | UBERON:0000178 | 91.30 | gold quality |
| spleen | UBERON:0002106 | 86.02 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.46 | gold quality |
| bone marrow cell | CL:0002092 | 84.30 | gold quality |
| right lung | UBERON:0002167 | 81.17 | gold quality |
| vermiform appendix | UBERON:0001154 | 79.75 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 78.16 | gold quality |
| upper lobe of lung | UBERON:0008948 | 76.19 | gold quality |
| bone marrow | UBERON:0002371 | 75.45 | gold quality |
| omental fat pad | UBERON:0010414 | 72.53 | gold quality |
| peritoneum | UBERON:0002358 | 72.45 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 71.85 | gold quality |
| right coronary artery | UBERON:0001625 | 71.79 | gold quality |
| caecum | UBERON:0001153 | 71.29 | gold quality |
| gall bladder | UBERON:0002110 | 71.05 | gold quality |
| bone element | UBERON:0001474 | 70.52 | gold quality |
| apex of heart | UBERON:0002098 | 70.21 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 69.52 | gold quality |
| left uterine tube | UBERON:0001303 | 69.39 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 69.20 | gold quality |
| mucosa of stomach | UBERON:0001199 | 68.81 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 68.42 | gold quality |
| right adrenal gland | UBERON:0001233 | 67.57 | gold quality |
| left coronary artery | UBERON:0001626 | 67.48 | gold quality |
| lung | UBERON:0002048 | 67.36 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 67.08 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 66.97 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9067 | yes | 13.10 |
| E-ANND-3 | yes | 5.64 |
| E-MTAB-5061 | yes | 4.26 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
52 targeting RASGRP4, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-5584-5P | 99.49 | 68.22 | 2814 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-3123 | 99.47 | 67.15 | 2693 |
| HSA-MIR-3915 | 99.45 | 68.49 | 1905 |
| HSA-MIR-4685-5P | 99.25 | 65.99 | 1563 |
Literature-anchored findings (GeneRIF, showing 10)
- RasGRP4 plays a role in myeloid cell signaling growth regulation pathways that are responsive to diacylglycerol levels (PMID:11880369)
- RasGRP4 is a cation-dependent, guanine nucleotide exchange factor and diacylglycerol/phorbol ester receptor that is selectively expressed in mast cells and their progenitors. RasGRP4 regulates the final stages of mast cell development. (PMID:11956218)
- identification of defective variants of this signaling protein in asthma, mastocytosis, and mast cell leukemia patients and demonstration of the importance of RasGRP4 in mast cell development and function (PMID:11956218)
- RasGRP4 regulates the expression of prostaglandin D2 in mast cells (PMID:12493770)
- RasGRP4 translocates to varied intracellular compartments via its DAG/PMA-binding domain to regulate signaling pathways that control gene and protein expression in MCs, including the cell’s ability to respond to IL-13. (PMID:18024961)
- RasGRP4 cooperates with AML1 mutations in T cell leukemogenesis as a class I mutation (PMID:19350351)
- Identification of defective isoforms of hRasGRP4 transcripts in rheumatoid arthritis(RA) patients raises the possibility that dysregulated expression of hRasGRP4 in developing monocytes plays a pathogenic role in this subset of RA patients. (PMID:21933395)
- GPCR activation of Ras and PI3Kc in neutrophils depends on PLCb2/b3 and the RasGEF RasGRP4. (PMID:22728827)
- Ras guanine nucleotide-releasing protein 4 is aberrantly expressed in the fibroblast-like synoviocytes of patients with rheumatoid arthritis and controls their proliferation. (PMID:25330932)
- The findings indicate the oncogenic role of RasGRP4 in diffuse large B cell lymphoma (DLBCL), suggesting it as a prognostic biomarker and potential therapeutic target in DLBCL. (PMID:31409422)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rasgrp4 | ENSDARG00000061796 |
| mus_musculus | Rasgrp4 | ENSMUSG00000030589 |
| rattus_norvegicus | Rasgrp4 | ENSRNOG00000033744 |
Paralogs (24): RASGRF1 (ENSG00000058335), RASGRP2 (ENSG00000068831), RAPGEF3 (ENSG00000079337), RAPGEF4 (ENSG00000091428), SOS2 (ENSG00000100485), RAPGEF1 (ENSG00000107263), RAPGEFL1 (ENSG00000108352), RAPGEF2 (ENSG00000109756), RASGRF2 (ENSG00000113319), SOS1 (ENSG00000115904), RALGPS2 (ENSG00000116191), RAPGEF5 (ENSG00000136237), RALGPS1 (ENSG00000136828), RASGEF1B (ENSG00000138670), RGL1 (ENSG00000143344), RASGEF1C (ENSG00000146090), RASGRP3 (ENSG00000152689), RAPGEF6 (ENSG00000158987), RGL4 (ENSG00000159496), RALGDS (ENSG00000160271), RASGRP1 (ENSG00000172575), RASGEF1A (ENSG00000198915), RGL3 (ENSG00000205517), RGL2 (ENSG00000237441)
Protein
Protein identifiers
RAS guanyl-releasing protein 4 — Q8TDF6 (reviewed: Q8TDF6)
All UniProt accessions (1): Q8TDF6
UniProt curated annotations — full annotation on UniProt →
Function. Functions as a cation- and diacylglycerol (DAG)-regulated nucleotide exchange factor activating Ras through the exchange of bound GDP for GTP. In neutrophils, participates in a phospholipase C-activating N-formyl peptide-activated GPCR (G protein-coupled receptor) signaling pathway by promoting Ras-mediated activation of PIK3CG/PI3Kgamma to promote neutrophil functional responses. In CD117(+) dendritic cells and mast cells, participates in an lipopolysaccharide (LPS)-activated signaling pathway that stimulates the production of interferon-gamma and other pro-inflammatory cytokines by natural killer (NK) cells. May function in mast cell differentiation. Does not appear to be required for the development of B-cells, DC-cells, T-cells, or NK-cells.
Subcellular location. Cytoplasm. Cell membrane.
Tissue specificity. Expressed by mast cells and their progenitors (at protein level). Specifically expressed in mononuclear leukocytes. Highly expressed in myeloid cells compared to lymphoid cells. Also detected in heart, skeletal muscle, spleen, liver, placenta and lung. Not detected in brain. Isoform 1 is the major isoform in normal individuals. Isoform 2 is more significantly expressed in a patient with asthma. Isoform 3 is more significantly expressed in a patient with asthma and a mastocytosis patient.
Domain organisation. The phorbol-ester/DAG-type zinc finger mediates the binding and the functional activation by DAG.
Miscellaneous. Probably inactive. Probably inactive.
Similarity. Belongs to the RASGRP family.
Isoforms (8)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TDF6-1 | 1 | yes |
| Q8TDF6-2 | 2, variant 2 | |
| Q8TDF6-3 | 3, variant 1 | |
| Q8TDF6-5 | 4 | |
| Q8TDF6-6 | 5 | |
| Q8TDF6-7 | 6 | |
| Q8TDF6-8 | 7 | |
| Q8TDF6-9 | 8 |
RefSeq proteins (7): NP_001139674, NP_001139675, NP_001139676, NP_001139677, NP_001139678, NP_001139679, NP_733749* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000651 | Ras-like_Gua-exchang_fac_N | Domain |
| IPR001895 | RASGEF_cat_dom | Domain |
| IPR002048 | EF_hand_dom | Domain |
| IPR002219 | PKC_DAG/PE | Domain |
| IPR008937 | Ras-like_GEF | Family |
| IPR020454 | DAG/PE-bd | Domain |
| IPR023578 | Ras_GEF_dom_sf | Homologous_superfamily |
| IPR036964 | RASGEF_cat_dom_sf | Homologous_superfamily |
| IPR046349 | C1-like_sf | Homologous_superfamily |
Pfam: PF00130, PF00617
UniProt features (51 total): helix 18, splice variant 7, sequence variant 6, sequence conflict 4, region of interest 4, domain 3, compositionally biased region 2, turn 2, strand 2, chain 1, mutagenesis site 1, zinc finger region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6AXG | X-RAY DIFFRACTION | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TDF6-F1 | 76.72 | 0.43 |
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 (1):
| Position | Phenotype |
|---|---|
| 548 | loss of cell membrane targeting. |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-2871837 | FCERI mediated NF-kB activation |
| R-HSA-5673001 | RAF/MAP kinase cascade |
MSigDB gene sets: 149 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, GOBP_MYELOID_CELL_DIFFERENTIATION, TGGTGCT_MIR29A_MIR29B_MIR29C, CREL_01, REACTOME_INNATE_IMMUNE_SYSTEM, KEGG_MAPK_SIGNALING_PATHWAY, ACTGCAG_MIR173P, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_LYMPHOCYTE_MEDIATED_IMMUNITY, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_RAS_PROTEIN_SIGNAL_TRANSDUCTION, GOBP_REGULATION_OF_LYMPHOCYTE_MEDIATED_IMMUNITY
GO Biological Process (7): positive regulation of natural killer cell mediated immunity (GO:0002717), phospholipase C-activating G protein-coupled receptor signaling pathway (GO:0007200), Ras protein signal transduction (GO:0007265), myeloid cell differentiation (GO:0030099), antibacterial innate immune response (GO:0140367), small GTPase-mediated signal transduction (GO:0007264), cell differentiation (GO:0030154)
GO Molecular Function (8): guanyl-nucleotide exchange factor activity (GO:0005085), calcium ion binding (GO:0005509), zinc ion binding (GO:0008270), diacylglycerol binding (GO:0019992), protein binding (GO:0005515), lipid binding (GO:0008289), GTPase regulator activity (GO:0030695), metal ion binding (GO:0046872)
GO Cellular Component (6): nucleoplasm (GO:0005654), cytosol (GO:0005829), plasma membrane (GO:0005886), cytoplasmic side of plasma membrane (GO:0009898), membrane (GO:0016020), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Fc epsilon receptor (FCERI) signaling | 1 |
| MAPK1/MAPK3 signaling | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| binding | 2 |
| natural killer cell mediated immunity | 1 |
| positive regulation of lymphocyte mediated immunity | 1 |
| regulation of natural killer cell mediated immunity | 1 |
| positive regulation of innate immune response | 1 |
| G protein-coupled receptor signaling pathway | 1 |
| phospholipase C activator activity | 1 |
| small GTPase-mediated signal transduction | 1 |
| hemopoiesis | 1 |
| cell differentiation | 1 |
| defense response to bacterium | 1 |
| innate immune response | 1 |
| intracellular signaling cassette | 1 |
| cellular developmental process | 1 |
| GTP binding | 1 |
| GDP binding | 1 |
| GTPase regulator activity | 1 |
| metal ion binding | 1 |
| transition metal ion binding | 1 |
| lipid binding | 1 |
| GTPase activity | 1 |
| nucleoside-triphosphatase regulator activity | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| plasma membrane | 1 |
| cytoplasmic side of membrane | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1082 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RASGRP4 | RASA4 | O43374 | 581 |
| RASGRP4 | HRAS | P01112 | 550 |
| RASGRP4 | PTGDS | P41222 | 510 |
| RASGRP4 | NF1 | P21359 | 495 |
| RASGRP4 | ATP7A | Q04656 | 475 |
| RASGRP4 | MAPKAPK3 | Q16644 | 465 |
| RASGRP4 | RABIF | P47224 | 459 |
| RASGRP4 | CDC25B | P30305 | 457 |
| RASGRP4 | PPM1A | P35813 | 433 |
| RASGRP4 | RASGEF1A | Q8N9B8 | 429 |
| RASGRP4 | RASA1 | P20936 | 426 |
| RASGRP4 | MAPKAPK5 | Q8IW41 | 426 |
| RASGRP4 | CMA1 | P23946 | 424 |
| RASGRP4 | VAV3 | Q9UKW4 | 396 |
| RASGRP4 | TAB1 | Q15750 | 393 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RASGRP4 | HSP90B1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SCRIB | CHD2 | psi-mi:“MI:0914”(association) | 0.350 |
| RASGRP4 | DUSP14 | psi-mi:“MI:0914”(association) | 0.350 |
| RASGRP4 | RAP1A | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (13): RAP1A (Co-localization), DUSP14 (Affinity Capture-MS), DSG4 (Affinity Capture-MS), SELENBP1 (Affinity Capture-MS), RASGRP4 (Two-hybrid), RASGRP4 (Two-hybrid), RASGRP4 (Two-hybrid), RASGRP4 (Two-hybrid), RASGRP4 (Proximity Label-MS), RASGRP4 (Positive Genetic), DUSP14 (Affinity Capture-MS), DSG4 (Affinity Capture-MS), RASGRP4 (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A1IGU3, A1IGU4, A1IGU5, A2VDW6, A6QP75, A7E3N7, B2RUP2, C3VPR6, D3ZI76, Q0VCR8, Q14DK4, Q1LZ97, Q3MIN7, Q3TAA7, Q3UR97, Q4FZD7, Q53B87, Q53B88, Q5D0E6, Q60I26, Q60I27, Q61085, Q641Y9, Q69Z89, Q6NUI2, Q6P5Z2, Q6PFY1, Q6PJN8, Q70J99, Q86UR1, Q86VI1, Q86WN1, Q8BI71, Q8BTM9, Q8C0R7, Q8C190, Q8K045, Q8N1F8, Q8N9H8, Q8R5I4
Diamond homologs: A4IJ06, A6N9I4, A8KBH6, O14795, O45818, O94806, O95267, P04409, P05126, P05128, P05129, P05130, P05696, P05771, P05772, P09215, P09216, P0C643, P10102, P10829, P10830, P13677, P13678, P15882, P16054, P17252, P20444, P23298, P24723, P27715, P28867, P30337, P34578, P34722, P34885, P52757, P63318, P68403, P68404, P83099
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
106 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 92 |
| Likely benign | 5 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2300 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:38411377:CAGAG:C | acceptor_gain | 1.0000 |
| 19:38412670:A:AC | donor_gain | 1.0000 |
| 19:38412671:C:CC | donor_gain | 1.0000 |
| 19:38412929:ACC:A | donor_gain | 1.0000 |
| 19:38412930:CCC:C | donor_gain | 1.0000 |
| 19:38413053:C:CT | acceptor_gain | 1.0000 |
| 19:38413054:A:T | acceptor_gain | 1.0000 |
| 19:38413060:G:GC | acceptor_gain | 1.0000 |
| 19:38413062:G:GC | acceptor_gain | 1.0000 |
| 19:38413293:GGTGG:G | acceptor_gain | 1.0000 |
| 19:38413294:GTGG:G | acceptor_gain | 1.0000 |
| 19:38413295:TGG:T | acceptor_gain | 1.0000 |
| 19:38413296:GG:G | acceptor_gain | 1.0000 |
| 19:38413296:GGCTG:G | acceptor_loss | 1.0000 |
| 19:38413298:C:CC | acceptor_gain | 1.0000 |
| 19:38413304:C:CT | acceptor_gain | 1.0000 |
| 19:38413388:TCTCA:T | donor_loss | 1.0000 |
| 19:38413389:CTCAC:C | donor_loss | 1.0000 |
| 19:38413390:TCACC:T | donor_loss | 1.0000 |
| 19:38413391:CA:C | donor_loss | 1.0000 |
| 19:38413392:A:AC | donor_gain | 1.0000 |
| 19:38413392:ACCAG:A | donor_loss | 1.0000 |
| 19:38413393:C:CC | donor_gain | 1.0000 |
| 19:38413393:C:G | donor_loss | 1.0000 |
| 19:38413393:CCAGG:C | donor_gain | 1.0000 |
| 19:38413470:GAGAG:G | acceptor_gain | 1.0000 |
| 19:38413471:AGAG:A | acceptor_gain | 1.0000 |
| 19:38413472:GAG:G | acceptor_gain | 1.0000 |
| 19:38413473:AG:A | acceptor_gain | 1.0000 |
| 19:38413473:AGC:A | acceptor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000100969 (19:38422152 T>A), RS1000693191 (19:38410890 T>G), RS1000703638 (19:38423569 G>A), RS1000719767 (19:38427732 A>G), RS1000993809 (19:38415983 TG>T), RS1001083743 (19:38410414 CTTTTTTTTTT>C,CTT,CTTT,CTTTTTT,CTTTTTTT,CTTTTTTTT,CTTTTTTTTT,CTTTTTTTTTTT,CTTTTTTTTTTTT,CTTTTTTTTTTTTT,CTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTT), RS1001116076 (19:38423387 G>A,C), RS1001296472 (19:38412131 G>T), RS1001429099 (19:38417204 G>T), RS1001665808 (19:38412382 C>A,G), RS1001880201 (19:38417418 T>C), RS1001893117 (19:38421559 A>G), RS1002119862 (19:38426923 C>CGGT), RS1002201507 (19:38409598 C>T), RS1002383592 (19:38415586 T>A)
Disease associations
OMIM: gene MIM:607320 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
13 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002875_93 | Diisocyanate-induced asthma | 5.000000e-06 |
| GCST004600_108 | Eosinophil percentage of white cells | 1.000000e-09 |
| GCST004606_37 | Eosinophil count | 2.000000e-09 |
| GCST004623_95 | Neutrophil percentage of granulocytes | 2.000000e-09 |
| GCST004624_19 | Sum eosinophil basophil counts | 3.000000e-09 |
| GCST90002379_151 | Basophil count | 7.000000e-57 |
| GCST90002379_152 | Basophil count | 2.000000e-33 |
| GCST90002380_16 | Basophil percentage of white cells | 1.000000e-53 |
| GCST90002380_17 | Basophil percentage of white cells | 3.000000e-31 |
| GCST90002381_341 | Eosinophil count | 7.000000e-17 |
| GCST90002381_342 | Eosinophil count | 7.000000e-10 |
| GCST90002382_464 | Eosinophil percentage of white cells | 7.000000e-16 |
| GCST90002393_659 | Monocyte count | 1.000000e-10 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006995 | response to diisocyanate |
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0004842 | eosinophil count |
| EFO:0007994 | neutrophil percentage of granulocytes |
| EFO:0005090 | basophil count |
| EFO:0007992 | basophil percentage of leukocytes |
| EFO:0005091 | monocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
14 total (human), top 14 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| Nickel | increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Vehicle Emissions | decreases methylation | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Tretinoin | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
| Asbestos, Crocidolite | affects 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.