CLC
gene geneOn this page
Also known as LGALS10MGC149659Gal-10
Summary
CLC (Charcot-Leyden crystal galectin, HGNC:2014) is a protein-coding gene on chromosome 19q13.2, encoding Galectin-10 (Q05315). Regulates immune responses through the recognition of cell-surface glycans.
Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias.
Source: NCBI Gene 1178 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 16 total
- MANE Select transcript:
NM_001828
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2014 |
| Approved symbol | CLC |
| Name | Charcot-Leyden crystal galectin |
| Location | 19q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | LGALS10, MGC149659, Gal-10 |
| Ensembl gene | ENSG00000105205 |
| Ensembl biotype | protein_coding |
| OMIM | 153310 |
| Entrez | 1178 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000221804
RefSeq mRNA: 1 — MANE Select: NM_001828
NM_001828
CCDS: CCDS33025
Canonical transcript exons
ENST00000221804 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000706193 | 39734283 | 39734493 |
| ENSE00000877644 | 39734997 | 39735073 |
| ENSE00000877645 | 39731255 | 39731505 |
| ENSE00001477760 | 39737938 | 39738029 |
Expression profiles
Bgee: expression breadth ubiquitous, 157 present calls, max score 99.74.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 6.1167 / max 2053.0092, expressed in 106 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 180898 | 3.3783 | 72 |
| 180899 | 2.7384 | 79 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| trabecular bone tissue | UBERON:0002483 | 99.74 | gold quality |
| bone marrow | UBERON:0002371 | 98.48 | gold quality |
| bone marrow cell | CL:0002092 | 96.47 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 96.08 | gold quality |
| monocyte | CL:0000576 | 95.79 | gold quality |
| mononuclear cell | CL:0000842 | 95.52 | gold quality |
| bone element | UBERON:0001474 | 95.45 | gold quality |
| blood | UBERON:0000178 | 94.75 | gold quality |
| leukocyte | CL:0000738 | 94.56 | gold quality |
| gall bladder | UBERON:0002110 | 85.51 | gold quality |
| vermiform appendix | UBERON:0001154 | 81.98 | gold quality |
| caecum | UBERON:0001153 | 78.06 | gold quality |
| granulocyte | CL:0000094 | 75.63 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 74.50 | gold quality |
| spleen | UBERON:0002106 | 74.14 | gold quality |
| ileal mucosa | UBERON:0000331 | 73.52 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 72.73 | gold quality |
| rectum | UBERON:0001052 | 70.27 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 70.21 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 67.32 | gold quality |
| jejunal mucosa | UBERON:0000399 | 66.59 | gold quality |
| amniotic fluid | UBERON:0000173 | 62.28 | gold quality |
| duodenum | UBERON:0002114 | 62.11 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 61.17 | silver quality |
| right lung | UBERON:0002167 | 60.06 | gold quality |
| parietal pleura | UBERON:0002400 | 59.73 | gold quality |
| frontal pole | UBERON:0002795 | 59.60 | gold quality |
| paraflocculus | UBERON:0005351 | 59.59 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 59.48 | gold quality |
| thymus | UBERON:0002370 | 59.27 | silver quality |
Single-cell (SCXA)
Detected in 13 experiment(s), a significant marker in 12.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 57049.25 |
| E-MTAB-10432 | yes | 39737.35 |
| E-MTAB-9801 | yes | 32965.83 |
| E-MTAB-9067 | yes | 14722.05 |
| E-MTAB-6505 | yes | 13673.34 |
| E-CURD-6 | yes | 3354.27 |
| E-CURD-55 | yes | 3009.74 |
| E-CURD-77 | yes | 539.50 |
| E-MTAB-8207 | yes | 300.07 |
| E-MTAB-7249 | yes | 11.12 |
| E-HCAD-10 | yes | 7.93 |
| E-ANND-3 | yes | 3.49 |
| E-MTAB-6678 | no | 3.51 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR1H2, PAX1, POLR2B, PRDM16, RUNX2, SMARCA1, STAT1, TBP, YY1
miRNA regulators (miRDB)
9 targeting CLC, 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-3616-5P | 99.55 | 67.02 | 989 |
| HSA-MIR-573 | 99.55 | 67.44 | 955 |
| HSA-MIR-5580-5P | 99.38 | 66.96 | 1139 |
| HSA-MIR-196A-3P | 99.19 | 67.34 | 1204 |
| HSA-MIR-6814-5P | 99.03 | 66.68 | 1273 |
| HSA-MIR-4722-5P | 98.46 | 66.34 | 1611 |
| HSA-MIR-541-5P | 98.24 | 67.77 | 1181 |
| HSA-MIR-4433A-3P | 97.75 | 62.82 | 1435 |
| HSA-MIR-212-5P | 96.83 | 67.43 | 950 |
Literature-anchored findings (GeneRIF, showing 23)
- downregulated significantly in acute myeloid leukemia patients whose white blood cell count was higher than 100 x 10(9)/L cells (PMID:12031912)
- Changes in the expressions of galectin-10 are potentially important for myeloid cell differentiation into specific lineages. (PMID:12714580)
- The five genes, and three of the encoded proteins, were shown differentially expressed between a group of keratoconus patients and a reference group using different techniques (PMID:16015083)
- Downregulated in whole blood of infants hospitalised with respiratory syncytial virus (RSV), subtype B, bronchiolitis. (PMID:17166282)
- expressed in human T lymphocytes, galectin-10 is essential for the functional properties of CD25(+) Treg cells. (PMID:17502455)
- Genetic variation in Charcot-Leyden crystal protein was found to be associated with allergic rhinitis (PMID:19650845)
- Data show that galectin-10 expression was related to the histological grade and with the number of eosinophils in the lesion. (PMID:19758173)
- DK-PGD-induced CLC/Gal-10 mRNA level can serve as a potential marker for monitoring pharmacodynamic effects of blood exposure to CRTH2 modulating agents (PMID:20858065)
- CLC and IFNAR1 were identified to be overall differentially expressed between early- and late-onset CRC, and are important in the development of early-onset CRC. (PMID:21716316)
- The results support the potential for galectin-10 to be used as a surrogate biomarker of eosinophilic airway inflammation. (PMID:22880030)
- findings show that galectin-10 functions as a T cell-suppressive molecule in eosinophils (PMID:28515279)
- Because Trp72 is the highly conserved in the ligand binding sites of galectins, we used EGFP-tagged W72A to show that Gal-10 could not be transported into the nucleus, indicating that Trp72 is crucial for Gal-10 transport into that organelle. (PMID:30239701)
- Increased CLC/Gal-10 and MBP-1 levels in the sputum were strongly correlated with sputum eosinophils in patients with asthma. CLC/Gal-10 and MBP-1 may be useful biomarkers for differentiation of eosinophilic airway inflammation in asthma. (PMID:31157540)
- CLC mRNA levels based on the qRT-PCR may serve as a reliable and alternative method for the identification of eosinophilic chronic rhinosinusitis with nasal polyps (PMID:31269798)
- Galectin-10, the protein that forms Charcot-Leyden crystals, is not stored in granules but resides in the peripheral cytoplasm of human eosinophils. (PMID:32108369)
- [Expression and pathological role of galectin-10 in different types of nasal polyps]. (PMID:32911886)
- Identification of galectin10 as a biomarker for periodontitis based on proteomic analysis of gingival crevicular fluid. (PMID:33300083)
- Chronic rhinosinusitis with nasal polyposis (CRSwNP): the correlation between expression of Galectin-10 and Clinical-Cytological Grading (CCG). (PMID:34647485)
- Crystalline State Determines the Potency of Galectin-10 Protein Assembly to Induce Inflammation. (PMID:35274950)
- Galectin-10 as a Potential Biomarker for Eosinophilic Diseases. (PMID:36291593)
- Glutathione disrupts galectin-10 Charcot-Leyden crystal formation to possibly ameliorate eosinophil-based diseases such as asthma. (PMID:36988350)
- Behcet syndrome: The disturbed balance between anti- (CLEC12A, CLC) and proinflammatory (IFI27) gene expressions. (PMID:37102643)
- Eosinophil-derived galectin-10 upregulates matrix metalloproteinase expression in bullous pemphigoid blisters. (PMID:37640566)
Cross-species orthologs
23 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lgals3b | ENSDARG00000044001 |
| danio_rerio | si:ch211-10a23.2 | ENSDARG00000060656 |
| danio_rerio | si:dkey-95h12.2 | ENSDARG00000092923 |
| drosophila_melanogaster | galectin | FBGN0031213 |
| drosophila_melanogaster | CG11374 | FBGN0031214 |
| drosophila_melanogaster | CG13950 | FBGN0031289 |
| caenorhabditis_elegans | WBGENE00002264 | |
| caenorhabditis_elegans | WBGENE00002266 | |
| caenorhabditis_elegans | WBGENE00002269 | |
| caenorhabditis_elegans | WBGENE00002270 | |
| caenorhabditis_elegans | WBGENE00002271 | |
| caenorhabditis_elegans | WBGENE00004165 | |
| caenorhabditis_elegans | C27C7.5 | WBGENE00007768 |
| caenorhabditis_elegans | F46A8.3 | WBGENE00009746 |
| caenorhabditis_elegans | F46A8.4 | WBGENE00009747 |
| caenorhabditis_elegans | F46A8.5 | WBGENE00009748 |
| caenorhabditis_elegans | F46A8.8 | WBGENE00009751 |
| caenorhabditis_elegans | WBGENE00017080 | |
| caenorhabditis_elegans | WBGENE00018255 | |
| caenorhabditis_elegans | WBGENE00018649 | |
| caenorhabditis_elegans | WBGENE00018650 | |
| caenorhabditis_elegans | WBGENE00018651 | |
| caenorhabditis_elegans | WBGENE00235368 |
Paralogs (16): LGALS14 (ENSG00000006659), LGALS2 (ENSG00000100079), LGALS1 (ENSG00000100097), LGALS13 (ENSG00000105198), LGALS8 (ENSG00000116977), LGALSL (ENSG00000119862), LGALS3 (ENSG00000131981), LGALS12 (ENSG00000133317), LGALS9 (ENSG00000168961), LGALS9B (ENSG00000170298), LGALS4 (ENSG00000171747), LGALS9C (ENSG00000171916), LGALS7B (ENSG00000178934), LGALS7 (ENSG00000205076), LGALS16 (ENSG00000249861), GRIFIN (ENSG00000275572)
Protein
Protein identifiers
Galectin-10 — Q05315 (reviewed: Q05315)
Alternative names: Charcot-Leyden crystal protein, Eosinophil lysophospholipase, Lysolecithin acylhydrolase
All UniProt accessions (1): Q05315
UniProt curated annotations — full annotation on UniProt →
Function. Regulates immune responses through the recognition of cell-surface glycans. Essential for the anergy and suppressive function of CD25-positive regulatory T-cells (Treg).
Subunit / interactions. Interacts with CEL.
Subcellular location. Cytoplasm. Cytosol. Cytoplasmic granule.
Tissue specificity. Expressed abundantly in the bone marrow. Expressed exclusively by eosinophils and basophils. Not detected in monocytes and neutrophils. Expressed in CD25-positive regulatory T-cells (Treg) (at protein level). Found in intestinal tissue from patients with Celiac disease, expression is directly related to the histological grade of mucosal damage and to the number of eosinophils found in the duodenal lesion (at protein level). Found in sputum of patients with eosinophilic inflammatory diseases such as asthma (at protein level).
Miscellaneous. Forms hexagonal bipyramidal crystals, known as Charcot-Leyden crystals, in tissues and secretions from sites of eosinophil-associated inflammation and some myeloid leukemias.
RefSeq proteins (1): NP_001819* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001079 | Galectin_CRD | Domain |
| IPR013320 | ConA-like_dom_sf | Homologous_superfamily |
| IPR044156 | Galectin-like | Family |
Pfam: PF00337
Enzyme classification (BRENDA):
- EC 3.1.1.5 — lysophospholipase (BRENDA: 46 organisms, 226 substrates, 153 inhibitors, 43 Km, 4 kcat entries)
Substrate kinetics (BRENDA)
35 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| LYSOPHOSPHATIDYLCHOLINE | 0.022–0.26 | 5 |
| 1-OLEOYL-2-LYSOPHOSPHATIDYLCHOLINE | 0.306–0.75 | 2 |
| 1-PALMITOYL LYSOPHOSPHATIDYLCHOLINE | 0.0273–0.19 | 2 |
| 1-PALMITOYL-SN-GLYCERO-3-PHOSPHOCHOLINE | 0.0606–0.17 | 2 |
| PHOSPHATIDYLCHOLINE | 0.18–0.63 | 2 |
| 1,2-DIDECANOYL-SN-GLYCERO-3-PHOSPHOCHOLINE | 1 | 1 |
| 1,2-DIDECANOYLPHOSPHATIDYLCHOLINE | 1.1 | 1 |
| 1,2-DIOCTANOYL-SN-GLYCERO-3-PHOSPHOCHOLINE | 2.9 | 1 |
| 1,2-DIPALMITOYL-SN-GLYCERO-3-PHOSPHOCHOLINE | 0.82 | 1 |
| 1,2-DIPALMITOYLPHOSPHATIDYLCHOLINE | 0.19 | 1 |
| 1-(4Z,7Z,10Z,13Z,16Z,19Z)-DOCOSAHEXAENOYL-2-LYSO | 0.045 | 1 |
| 1-ACYL-2-OLEOYL-PHOSPHATIDYLCHOLINE | 1.6 | 1 |
| 1-ARACHIDONOYL-2-LYSOPHOSPHATIDYLCHOLINE | 0.0676 | 1 |
| 1-DOCOSAHEXAENOYL LYSOPHOSPHATIDYLCHOLINE | 0.045 | 1 |
| 1-HEXANOYL LYSOPHOSPHATIDYLCHOLINE | 0.0992 | 1 |
UniProt features (19 total): strand 10, helix 2, initiator methionine 1, chain 1, turn 1, domain 1, site 1, modified residue 1, sequence variant 1
Structure
Experimental structures (PDB)
47 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6GKS | X-RAY DIFFRACTION | 1.38 |
| 6QRN | X-RAY DIFFRACTION | 1.4 |
| 5XRG | X-RAY DIFFRACTION | 1.55 |
| 5XRH | X-RAY DIFFRACTION | 1.55 |
| 9UWN | X-RAY DIFFRACTION | 1.57 |
| 9UWP | X-RAY DIFFRACTION | 1.57 |
| 5XRN | X-RAY DIFFRACTION | 1.6 |
| 5XRO | X-RAY DIFFRACTION | 1.6 |
| 9UWK | X-RAY DIFFRACTION | 1.6 |
| 6A1U | X-RAY DIFFRACTION | 1.62 |
| 8JAE | X-RAY DIFFRACTION | 1.62 |
| 6A1S | X-RAY DIFFRACTION | 1.63 |
| 6A1Y | X-RAY DIFFRACTION | 1.63 |
| 9UWO | X-RAY DIFFRACTION | 1.64 |
| 5XRI | X-RAY DIFFRACTION | 1.68 |
| 5XRK | X-RAY DIFFRACTION | 1.7 |
| 6L6C | X-RAY DIFFRACTION | 1.77 |
| 9UWS | X-RAY DIFFRACTION | 1.78 |
| 1G86 | X-RAY DIFFRACTION | 1.8 |
| 1HDK | X-RAY DIFFRACTION | 1.8 |
| 1LCL | X-RAY DIFFRACTION | 1.8 |
| 1QKQ | X-RAY DIFFRACTION | 1.8 |
| 6L6B | X-RAY DIFFRACTION | 1.8 |
| 6L6A | X-RAY DIFFRACTION | 1.81 |
| 5XRJ | X-RAY DIFFRACTION | 1.9 |
| 6GLW | X-RAY DIFFRACTION | 1.9 |
| 6GKU | X-RAY DIFFRACTION | 1.91 |
| 6L68 | X-RAY DIFFRACTION | 1.92 |
| 8YQC | X-RAY DIFFRACTION | 1.92 |
| 6L6D | X-RAY DIFFRACTION | 1.93 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q05315-F1 | 96.95 | 0.96 |
Antibody-complex structures (SAbDab): 3 — 6GKU, 6GLW, 6GLX
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 136 (not glycosylated)
Post-translational modifications (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 163 (showing top):
GOBP_REGULATION_OF_CELL_ACTIVATION, FXR_IR1_Q6, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, MYOGENIN_Q6, GOBP_TOLERANCE_INDUCTION, GOBP_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GCANCTGNY_MYOD_Q6, TGACCTY_ERR1_Q2, HNF1_Q6, GOBP_REGULATION_OF_TOLERANCE_INDUCTION, GGGTGGRR_PAX4_03, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, AACWWCAANK_UNKNOWN, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_DN, GOBP_REGULATION_OF_IMMUNE_RESPONSE
GO Biological Process (4): regulation of T cell anergy (GO:0002667), regulation of T cell cytokine production (GO:0002724), regulation of activated T cell proliferation (GO:0046006), T cell apoptotic process (GO:0070231)
GO Molecular Function (3): carbohydrate binding (GO:0030246), identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (3): cytosol (GO:0005829), extracellular matrix (GO:0031012), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| cellular anatomical structure | 2 |
| regulation of T cell tolerance induction | 1 |
| T cell anergy | 1 |
| regulation of lymphocyte anergy | 1 |
| T cell cytokine production | 1 |
| regulation of T cell mediated immunity | 1 |
| regulation of cytokine production involved in immune response | 1 |
| regulation of T cell proliferation | 1 |
| activated T cell proliferation | 1 |
| lymphocyte apoptotic process | 1 |
| protein binding | 1 |
| cytoplasm | 1 |
| external encapsulating structure | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
650 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CLC | GALE | Q14376 | 932 |
| CLC | LGALS2 | P05162 | 699 |
| CLC | LGALS12 | Q96DT0 | 608 |
| CLC | CHD7 | Q9P2D1 | 601 |
| CLC | RNASE2 | P10153 | 581 |
| CLC | LGALS3 | P17931 | 576 |
| CLC | EPX | P11678 | 571 |
| CLC | GALK1 | P51570 | 571 |
| CLC | RNASE3 | P12724 | 570 |
| CLC | ISYNA1 | Q9NPH2 | 540 |
| CLC | ADH1A | P07327 | 517 |
| CLC | HDAC3 | O15379 | 510 |
| CLC | PAICS | P22234 | 507 |
| CLC | HDAC8 | Q9BY41 | 492 |
| CLC | PRG2 | P13727 | 480 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CLC | CLC | psi-mi:“MI:0915”(physical association) | 0.670 |
| CLC | CLC | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (2): CLC (Two-hybrid), CLC (Two-hybrid)
ESM2 similar proteins: A0A3Q1N1R0, A4D1Z8, A8MUM7, D3ZGS3, O00214, O08573, O14727, O23547, O44126, O54891, O88644, O88879, P07583, P08520, P11762, P23668, P26788, P36573, P38552, P47967, P56180, P56217, P56470, P79238, P97400, P97840, Q01968, Q05315, Q09581, Q09605, Q29058, Q3MHZ8, Q62665, Q6DGJ1, Q6NVF0, Q801X7, Q8C726, Q8K419, Q8LEV3, Q8TCE9
Diamond homologs: A8MUM7, O00182, O08573, O54891, P38486, P38552, P47929, P79238, P97400, P97840, Q05315, Q29058, Q3B8N2, Q3MHZ8, Q3T0D6, Q6DKI2, Q8K419, Q8TCE9, Q9UHV8, A8N3G7, C0HJQ1, C0HJR3, O44126, O54974, P08520, P08699, P09382, P11116, P16110, P17931, P36573, P47845, P47953, P47967, P56470, P81184, P97590, Q09581, Q1ECW6, Q206Z5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
16 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 11 |
| Likely benign | 0 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
937 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:39734319:A:C | F89L | 0.951 |
| 19:39734319:A:T | F89L | 0.951 |
| 19:39734321:A:G | F89L | 0.951 |
| 19:39731473:A:C | F112L | 0.939 |
| 19:39731473:A:T | F112L | 0.939 |
| 19:39731475:A:G | F112L | 0.939 |
| 19:39734412:A:C | F58L | 0.913 |
| 19:39734412:A:T | F58L | 0.913 |
| 19:39734414:A:G | F58L | 0.913 |
| 19:39734337:A:C | F83L | 0.911 |
| 19:39734337:A:T | F83L | 0.911 |
| 19:39734339:A:G | F83L | 0.911 |
| 19:39734430:G:C | F52L | 0.895 |
| 19:39734430:G:T | F52L | 0.895 |
| 19:39734432:A:G | F52L | 0.895 |
| 19:39734466:G:C | F40L | 0.892 |
| 19:39734466:G:T | F40L | 0.892 |
| 19:39734468:A:G | F40L | 0.892 |
| 19:39734287:T:G | Y100S | 0.878 |
| 19:39734999:G:C | F30L | 0.866 |
| 19:39734999:G:T | F30L | 0.866 |
| 19:39735001:A:G | F30L | 0.866 |
| 19:39734370:C:A | W72C | 0.860 |
| 19:39734370:C:G | W72C | 0.860 |
| 19:39734386:C:G | R67P | 0.858 |
| 19:39734467:A:G | F40S | 0.849 |
| 19:39734372:A:G | W72R | 0.848 |
| 19:39734372:A:T | W72R | 0.848 |
| 19:39734308:A:G | I93T | 0.847 |
| 19:39734288:A:G | Y100H | 0.838 |
dbSNP variants (sampled 300 via entrez): RS1000900444 (19:39736792 A>T), RS1001076151 (19:39737083 C>G,T), RS1001641615 (19:39737890 T>C,G), RS1001874840 (19:39734039 A>G), RS1002019444 (19:39731969 G>A,C), RS1002910765 (19:39739148 T>C), RS1002956488 (19:39738092 TCA>T), RS1003020204 (19:39733850 T>A,C), RS1003370739 (19:39735080 G>A,C), RS1003549246 (19:39735356 T>C), RS1003886458 (19:39733557 A>C,G), RS1003938946 (19:39733760 T>A), RS1004446928 (19:39738408 C>T), RS1004584434 (19:39732235 C>T), RS1005068796 (19:39738946 A>C)
Disease associations
OMIM: gene MIM:153310 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001851_5 | Schizophrenia | 2.000000e-06 |
| GCST004600_109 | Eosinophil percentage of white cells | 4.000000e-53 |
| GCST004606_38 | Eosinophil count | 6.000000e-58 |
| GCST004617_36 | Eosinophil percentage of granulocytes | 2.000000e-47 |
| GCST004623_96 | Neutrophil percentage of granulocytes | 2.000000e-33 |
| GCST005975_3 | Eosinophil count | 1.000000e-12 |
| GCST90002379_153 | Basophil count | 4.000000e-13 |
| GCST90002380_18 | Basophil percentage of white cells | 4.000000e-18 |
| GCST90002380_19 | Basophil percentage of white cells | 3.000000e-11 |
| GCST90002381_343 | Eosinophil count | 9.000000e-134 |
| GCST90002382_465 | Eosinophil percentage of white cells | 3.000000e-129 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0004842 | eosinophil count |
| EFO:0007996 | eosinophil percentage of granulocytes |
| EFO:0007994 | neutrophil percentage of granulocytes |
| EFO:0005090 | basophil count |
| EFO:0007992 | basophil percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
15 total (human), top 15 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Arsenic Trioxide | increases expression | 2 |
| bisphenol F | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| pentanal | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Aspirin | affects response to substance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Iron | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Tretinoin | increases 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.