LCN1
gene geneOn this page
Also known as VEGPTPPMFAMGC71975TLC
Summary
LCN1 (lipocalin 1, HGNC:6525) is a protein-coding gene on chromosome 9q34.3, encoding Lipocalin-1 (P31025). Could play a role in taste reception.
This gene encodes a member of the lipocalin family of small secretory proteins. Lipocalins are extracellular transport proteins that bind to a variety of hydrophobic ligands. The encoded protein is the primary lipid binding protein in tears and is overproduced in response to multiple stimuli including infection and stress. The encoded protein may be a marker for chromosome aneuploidy as well as an autoantigen in Sjogren’s syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and two pseudogenes of this gene are also located on the long arm of chromosome 9.
Source: NCBI Gene 3933 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 46 total
- MANE Select transcript:
NM_002297
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6525 |
| Approved symbol | LCN1 |
| Name | lipocalin 1 |
| Location | 9q34.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | VEGP, TP, PMFA, MGC71975, TLC |
| Ensembl gene | ENSG00000160349 |
| Ensembl biotype | protein_coding |
| OMIM | 151675 |
| Entrez | 3933 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000263598, ENST00000371781
RefSeq mRNA: 4 — MANE Select: NM_002297
NM_001252617, NM_001252618, NM_001252619, NM_002297
CCDS: CCDS6991
Canonical transcript exons
ENST00000371781 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000828353 | 135525132 | 135525158 |
| ENSE00000828356 | 135523232 | 135523302 |
| ENSE00001347956 | 135526344 | 135526540 |
| ENSE00001456083 | 135521440 | 135521587 |
| ENSE00002339178 | 135524830 | 135524931 |
| ENSE00002369877 | 135522047 | 135522177 |
| ENSE00002380392 | 135523880 | 135523990 |
Expression profiles
Bgee: expression breadth broad, 90 present calls, max score 96.88.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 34.3130 / max 54044.1745, expressed in 39 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 99446 | 34.3130 | 39 |
Top tissues by expression
263 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lacrimal gland | UBERON:0001817 | 96.88 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 90.54 | silver quality |
| buccal mucosa cell | CL:0002336 | 79.49 | silver quality |
| tongue | UBERON:0001723 | 77.41 | gold quality |
| body of tongue | UBERON:0011876 | 77.08 | gold quality |
| endometrium epithelium | UBERON:0004811 | 75.15 | gold quality |
| paraflocculus | UBERON:0005351 | 72.87 | gold quality |
| triceps brachii | UBERON:0001509 | 72.79 | gold quality |
| frontal pole | UBERON:0002795 | 72.51 | gold quality |
| gluteal muscle | UBERON:0002000 | 72.42 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 71.89 | silver quality |
| superior surface of tongue | UBERON:0007371 | 69.69 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 67.65 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 65.28 | gold quality |
| parotid gland | UBERON:0001831 | 65.24 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 62.37 | gold quality |
| cerebellar vermis | UBERON:0004720 | 62.37 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 62.17 | gold quality |
| heart right ventricle | UBERON:0002080 | 61.92 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 61.37 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 60.89 | gold quality |
| deltoid | UBERON:0001476 | 60.46 | gold quality |
| quadriceps femoris | UBERON:0001377 | 60.15 | gold quality |
| biceps brachii | UBERON:0001507 | 59.00 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 59.00 | gold quality |
| vastus lateralis | UBERON:0001379 | 58.94 | gold quality |
| decidua | UBERON:0002450 | 58.24 | gold quality |
| diaphragm | UBERON:0001103 | 58.03 | gold quality |
| myocardium | UBERON:0002349 | 57.95 | gold quality |
| vena cava | UBERON:0004087 | 56.45 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
23 targeting LCN1, 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-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-6132 | 99.60 | 65.83 | 1554 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-7160-5P | 99.11 | 67.17 | 2207 |
| HSA-MIR-4651 | 99.06 | 67.57 | 2002 |
| HSA-MIR-5001-5P | 99.05 | 66.76 | 1972 |
| HSA-MIR-1909-3P | 99.03 | 66.56 | 1662 |
| HSA-MIR-1257 | 98.97 | 68.02 | 1133 |
| HSA-MIR-608 | 98.93 | 67.83 | 2013 |
| HSA-MIR-6829-5P | 98.86 | 65.12 | 1480 |
| HSA-MIR-4656 | 98.79 | 66.22 | 1306 |
| HSA-MIR-3928-5P | 98.50 | 67.48 | 980 |
| HSA-MIR-6806-3P | 98.50 | 67.31 | 980 |
| HSA-MIR-93-3P | 98.15 | 66.65 | 1309 |
| HSA-MIR-146B-3P | 97.83 | 65.29 | 782 |
| HSA-MIR-4675 | 97.69 | 64.82 | 774 |
| HSA-MIR-4741 | 97.69 | 64.14 | 883 |
| HSA-MIR-939-5P | 97.10 | 65.80 | 1579 |
| HSA-MIR-1343-5P | 96.48 | 66.06 | 1506 |
| HSA-MIR-4471 | 95.11 | 66.84 | 755 |
Literature-anchored findings (GeneRIF, showing 26)
- The N-terminal part of recombinant human tear lipocalin/von Ebner’s gland protein confers cysteine proteinase inhibition depending on the presence of the entire cystatin-like sequence motifs. (PMID:11727836)
- Lcn-1 is specifically produced by corticotrophs (PMID:11850445)
- LIMR mediating internalization of lipocalin-1 (Lcn-1) in NT2 cells, leading to its degradation. (PMID:12591932)
- structure, function, and mechanism of action [review] (PMID:12613960)
- Tear lipocalin is probable protein carrier for vitamin E tears and is candidate to specifically deliver vitamin E as antioxidant to corneal epithelium. (PMID:12613961)
- Tear surface tension depends partly on presence of tear lipocalin/lipid complex. Tear proteins and lipid-free tear lipocalin lower surface tension. (PMID:12613963)
- pH-driven ligand release involves ionization changes in several titratable residues associated with CD and EF loop apposition and occlusion of the calyx (PMID:15461462)
- structural analysis sheds new light on the ligand binding activity of this functionally obscure but abundant human lipocalin (PMID:15489503)
- Lipocalin is a novel autoantigen target in Sjogren’s syndrome. (PMID:16249071)
- Hydrodynamic and solution properties of lipocalin from human tears show that the protein size and topology are the major determinants of rotational correlation time and a reason for deviation from the Stokes-Einstein relationship. (PMID:17869594)
- Selective displacement of ANS molecules from the ANS-apoTL complex by stearic acid discriminates the internal and external binding sites. (PMID:17945179)
- Tear lipocalin is the principal endonuclease in human tear fluid. (PMID:18334931)
- Results suggest that the excited protein states in tear lipocalin are not unique but consist of many substates. (PMID:19586017)
- Tear lipocalin with the bound artificial ligand 1,4-butanediol has been crystallized in space group P2(1) with four protein molecules in the asymmetric unit and its X-ray structure has been solved at 2.6 A resolution. (PMID:19770509)
- Study has identified the first protein, lipocalin-1, in the secretome of human blastocysts that is associated with chromosome aneuploidy. (PMID:21324447)
- The conserved disulfide bond of human tear lipocalin modulates conformation and lipid binding in a ligand selective manner.( (PMID:21466861)
- Tear lipocalin (TLC) is a major protein in tears and has a large ligand-binding cavity that allows the lipocalin to bind an extensive and diverse set of lipophilic molecules. (PMID:21791187)
- Serum concentrations of LCN1 and LCN2 were both elevated in patients with COPD. (PMID:24920892)
- Tear lysozyme, lactoferrin and lipocalin concentrations were determined via electrophoresis and the results for patients with or without eyelid tumors were compared. (PMID:25914748)
- Human neutrophil lipocalin (HNL) concentrations in serum or whole blood activated by formyl-methionine-leucine-phenylalanine (fMLP) were shown to distinguish acute infections of bacterial or viral cause with high accuracy. (PMID:26135974)
- the crosstalk of dendritic cells with lipocalins alone has the potential to direct the type of immune response to these particular antigens. (PMID:26218644)
- the possible relationship between ocular symptomatology, tear volume and tear break-up time (TBUT) and lipocalin, lactoferrin and lysozyme concentrations in the tear film were explored in a group of symptomatic dry-eyed postmenopausal (PM) women. (PMID:26366224)
- At the relatively small concentrations in tears, all ceramides were complexed to tear lipocalin. (PMID:29331331)
- The expression of LCN1 increased gradually from stage 1 to stage 4 in breast cancer patients. (PMID:31424267)
- Lipocalin-1 is the acceptor protein for phospholipid transfer protein in tears. (PMID:33631671)
- Targeted proteomics using parallel reaction monitoring confirms salivary proteins indicative of metastatic triple-negative breast cancer. (PMID:35995384)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| rattus_norvegicus | ENSRNOG00000074004 | |
| rattus_norvegicus | ENSRNOG00000085594 |
Paralogs (12): PTGDS (ENSG00000107317), PAEP (ENSG00000122133), OBP2A (ENSG00000122136), LCN2 (ENSG00000148346), LCN9 (ENSG00000148386), OBP2B (ENSG00000171102), LCN15 (ENSG00000177984), LCN12 (ENSG00000184925), LCN10 (ENSG00000187922), LCN8 (ENSG00000204001), LCNL1 (ENSG00000214402), LCN6 (ENSG00000267206)
Protein
Protein identifiers
Lipocalin-1 — P31025 (reviewed: P31025)
Alternative names: Tear lipocalin, Tear prealbumin, von Ebner gland protein
All UniProt accessions (1): P31025
UniProt curated annotations — full annotation on UniProt →
Function. Could play a role in taste reception. Could be necessary for the concentration and delivery of sapid molecules in the gustatory system. Can bind various ligands, with chemical structures ranging from lipids and retinoids to the macrocyclic antibiotic rifampicin and even to microbial siderophores. Exhibits an extremely wide ligand pocket.
Subunit / interactions. Predominantly monomer. May form homodimer. Interacts with LMBR1L; this interaction mediates the endocytosis of LCN1.
Subcellular location. Secreted.
Tissue specificity. Mainly expressed in lachrymal and salivary glands. Also expressed in the prostate.
Similarity. Belongs to the calycin superfamily. Lipocalin family.
RefSeq proteins (4): NP_001239546, NP_001239547, NP_001239548, NP_002288* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000566 | Lipocln_cytosolic_FA-bd_dom | Domain |
| IPR002345 | Lipocalin | Family |
| IPR002450 | von_Ebner_gland | Family |
| IPR012674 | Calycin | Homologous_superfamily |
Pfam: PF00061
UniProt features (20 total): strand 14, helix 2, signal peptide 1, chain 1, disulfide bond 1, turn 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1XKI | X-RAY DIFFRACTION | 1.8 |
| 4QAF | X-RAY DIFFRACTION | 1.8 |
| 3EYC | X-RAY DIFFRACTION | 2.6 |
| 5T43 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P31025-F1 | 88.76 | 0.72 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (1): 79–171
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-804914 | Transport of fatty acids |
| R-HSA-382551 | Transport of small molecules |
| R-HSA-425397 | Transport of vitamins, nucleosides, and related molecules |
| R-HSA-425407 | SLC-mediated transmembrane transport |
MSigDB gene sets: 46 (showing top):
GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_SENSORY_PERCEPTION_OF_TASTE, GOBP_SENSORY_PERCEPTION, GOMF_SIGNALING_RECEPTOR_BINDING, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_PROTEOLYSIS, GOMF_PEPTIDASE_REGULATOR_ACTIVITY, GOMF_ENZYME_INHIBITOR_ACTIVITY, GOMF_ENZYME_REGULATOR_ACTIVITY, GOMF_CYSTEINE_TYPE_ENDOPEPTIDASE_INHIBITOR_ACTIVITY, GOMF_CHLORIDE_ION_BINDING, GOMF_ENDOPEPTIDASE_REGULATOR_ACTIVITY, REACTOME_TRANSPORT_OF_SMALL_MOLECULES, CTIP_DN.V1_DN, REACTOME_TRANSPORT_OF_FATTY_ACIDS
GO Biological Process (2): proteolysis (GO:0006508), sensory perception of taste (GO:0050909)
GO Molecular Function (6): cysteine-type endopeptidase inhibitor activity (GO:0004869), signaling receptor binding (GO:0005102), zinc ion binding (GO:0008270), chloride ion binding (GO:0031404), protein binding (GO:0005515), small molecule binding (GO:0036094)
GO Cellular Component (2): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Transport of vitamins, nucleosides, and related molecules | 1 |
| SLC-mediated transmembrane transport | 1 |
| Transport of small molecules | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| protein metabolic process | 1 |
| sensory perception of chemical stimulus | 1 |
| cysteine-type endopeptidase activity | 1 |
| endopeptidase inhibitor activity | 1 |
| protein binding | 1 |
| transition metal ion binding | 1 |
| anion binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
738 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LCN1 | LMBR1L | Q6UX01 | 946 |
| LCN1 | LTF | P02788 | 922 |
| LCN1 | CST4 | P01036 | 891 |
| LCN1 | LCN2 | P30150 | 858 |
| LCN1 | LACRT | Q9GZZ8 | 851 |
| LCN1 | APOD | P05090 | 851 |
| LCN1 | PAEP | P09466 | 839 |
| LCN1 | C8G | P07360 | 794 |
| LCN1 | WNT8B | Q93098 | 794 |
| LCN1 | LYZL1 | Q6UWQ5 | 787 |
| LCN1 | KIF22 | Q14807 | 780 |
| LCN1 | PTGDS | P41222 | 764 |
| LCN1 | LYZ | P00695 | 715 |
| LCN1 | RBP4 | P02753 | 692 |
| LCN1 | ORM1 | P02763 | 668 |
IntAct
78 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| Cdca5 | RAD21 | psi-mi:“MI:0915”(physical association) | 0.670 |
| NKAP | NOS1AP | psi-mi:“MI:0914”(association) | 0.660 |
| KLHL22 | METTL15 | psi-mi:“MI:0914”(association) | 0.640 |
| NPHP4 | BAG2 | psi-mi:“MI:0914”(association) | 0.610 |
| LCN1 | PDYN | psi-mi:“MI:0915”(physical association) | 0.590 |
| RECK | LCN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LCN1 | UBQLN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM25C | LCN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ALOX5 | LCN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LCN1 | RECK | psi-mi:“MI:0915”(physical association) | 0.560 |
| DARS2 | GAPDHS | psi-mi:“MI:0914”(association) | 0.560 |
| DDX31 | IGLL5 | psi-mi:“MI:0914”(association) | 0.530 |
| HBM | SCGB2A1 | psi-mi:“MI:0914”(association) | 0.530 |
| DNAJB8 | SCGB2A1 | psi-mi:“MI:0914”(association) | 0.530 |
| PECR | LCN1 | psi-mi:“MI:0914”(association) | 0.530 |
| ARMC6 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.530 |
| KISS1R | ERLIN1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SPATA4 | LCN1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ALKBH2 | LCN1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| STK4 | ANXA2P2 | psi-mi:“MI:0914”(association) | 0.350 |
| UBE3A | TXNL1 | psi-mi:“MI:0914”(association) | 0.350 |
| UBE3A | IGLC7 | psi-mi:“MI:0914”(association) | 0.350 |
| SNX27 | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| TDRKH | GGCT | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (117): LCN1 (Affinity Capture-MS), PDYN (Affinity Capture-MS), LCN1 (Affinity Capture-MS), LCN1 (Affinity Capture-MS), LCN1 (Affinity Capture-MS), PDYN (Affinity Capture-MS), LCN1 (Affinity Capture-MS), LCN1 (Affinity Capture-MS), LCN1 (Affinity Capture-MS), LCN1 (Affinity Capture-MS), LCN1 (Affinity Capture-MS), LCN1 (Affinity Capture-MS), LCN1 (Affinity Capture-MS), LCN1 (Affinity Capture-MS), LCN1 (Affinity Capture-MS)
ESM2 similar proteins: B3EY83, B5X0G2, H2B3G5, O02853, O09114, O18873, O97921, P02758, P02761, P04119, P07380, P09466, P11588, P11672, P13613, P19647, P20289, P22057, P30152, P31025, P33685, P33686, P33687, P33688, P41222, P41244, P53715, P62502, P62503, P80188, Q28388, Q29095, Q29487, Q29562, Q5VSP4, Q6JVE6, Q6JVL5, Q6UWW0, Q810Z1, Q8K1H9
Diamond homologs: O18873, P20289, P20462, P31025, P41244, P53715, Q29144, Q5VSP4, Q62471, Q62472, Q8K1H9, Q8SQ30, Q9NPH6, Q9NY56, P02755, P02756, Q8WX39, P07380
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
46 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 3 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1199 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:135521584:GGAT:G | donor_gain | 1.0000 |
| 9:135521585:G:GT | donor_gain | 1.0000 |
| 9:135521585:GAT:G | donor_gain | 1.0000 |
| 9:135521588:G:GG | donor_gain | 1.0000 |
| 9:135521603:G:GT | donor_gain | 1.0000 |
| 9:135521603:G:T | donor_gain | 1.0000 |
| 9:135522158:G:GT | donor_gain | 1.0000 |
| 9:135522174:TGCT:T | donor_gain | 1.0000 |
| 9:135522175:GCT:G | donor_gain | 1.0000 |
| 9:135522175:GCTG:G | donor_gain | 1.0000 |
| 9:135522176:CTG:C | donor_loss | 1.0000 |
| 9:135522177:TGT:T | donor_loss | 1.0000 |
| 9:135522178:G:C | donor_loss | 1.0000 |
| 9:135522178:G:GG | donor_gain | 1.0000 |
| 9:135522179:TGAG:T | donor_loss | 1.0000 |
| 9:135523298:GGCCG:G | donor_gain | 1.0000 |
| 9:135523299:GCCG:G | donor_gain | 1.0000 |
| 9:135523299:GCCGG:G | donor_gain | 1.0000 |
| 9:135523300:CCGGT:C | donor_loss | 1.0000 |
| 9:135523301:CGGTG:C | donor_loss | 1.0000 |
| 9:135523302:GGTGA:G | donor_loss | 1.0000 |
| 9:135523303:G:GG | donor_gain | 1.0000 |
| 9:135523303:G:T | donor_loss | 1.0000 |
| 9:135523304:T:A | donor_loss | 1.0000 |
| 9:135523878:A:AG | acceptor_gain | 1.0000 |
| 9:135523878:AGAC:A | acceptor_gain | 1.0000 |
| 9:135523879:G:GA | acceptor_gain | 1.0000 |
| 9:135523879:GAC:G | acceptor_gain | 1.0000 |
| 9:135523879:GACG:G | acceptor_gain | 1.0000 |
| 9:135523962:G:GT | donor_gain | 1.0000 |
AlphaMissense
1142 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:135522071:G:C | A39P | 0.913 |
| 9:135522059:T:A | W35R | 0.909 |
| 9:135522059:T:C | W35R | 0.909 |
| 9:135524868:T:C | F148L | 0.897 |
| 9:135524870:T:A | F148L | 0.897 |
| 9:135524870:T:G | F148L | 0.897 |
| 9:135523293:T:G | Y95D | 0.883 |
| 9:135522061:G:C | W35C | 0.882 |
| 9:135522061:G:T | W35C | 0.882 |
| 9:135523294:A:C | Y95S | 0.871 |
| 9:135523990:G:C | G135R | 0.869 |
| 9:135523985:T:A | L133H | 0.855 |
| 9:135522156:T:C | L67P | 0.829 |
| 9:135523245:T:A | C79S | 0.829 |
| 9:135523246:G:C | C79S | 0.829 |
| 9:135524830:G:A | G135D | 0.824 |
| 9:135523985:T:C | L133P | 0.822 |
| 9:135523293:T:C | Y95H | 0.818 |
| 9:135522161:G:C | A69P | 0.813 |
| 9:135524830:G:T | G135V | 0.803 |
| 9:135521522:A:C | S9R | 0.799 |
| 9:135521524:C:A | S9R | 0.799 |
| 9:135521524:C:G | S9R | 0.799 |
| 9:135522070:G:C | K38N | 0.798 |
| 9:135522070:G:T | K38N | 0.798 |
| 9:135522132:T:C | L59P | 0.790 |
| 9:135524869:T:G | F148C | 0.790 |
| 9:135523245:T:C | C79R | 0.788 |
| 9:135525139:C:G | C171W | 0.782 |
| 9:135524869:T:C | F148S | 0.772 |
dbSNP variants (sampled 300 via entrez): RS1000097919 (9:133317280 C>T), RS1000349069 (9:135526261 C>T), RS1000403103 (9:135525813 C>G,T), RS1001531238 (9:135525567 G>C), RS1002532162 (9:135524705 G>A,T), RS1002722501 (9:133317531 G>A), RS1003106095 (9:135519975 A>G), RS1003523105 (9:133316883 G>A), RS1003852504 (9:135521432 A>G), RS1004247127 (9:135519887 A>G,T), RS1004439353 (9:135524020 A>C), RS1004505833 (9:135526931 G>C,T), RS1004614769 (9:135521048 G>C,T), RS1004845289 (9:133318402 C>T), RS1005388323 (9:135523384 C>A,G,T)
Disease associations
OMIM: gene MIM:151675 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005091_4 | Subcutaneous adipose tissue | 1.000000e-06 |
| GCST005092_1 | Subcutaneous adipose tissue (sex interaction) | 1.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008343 | sex interaction measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| deoxynivalenol | increases expression | 1 |
| potassium persulfate | increases expression | 1 |
| terbufos | increases methylation | 1 |
| 1-anilino-8-naphthalenesulfonate | affects binding | 1 |
| 11-(dansylamino)undecanoic acid | affects binding | 1 |
| tebuconazole | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Cadmium | increases expression | 1 |
| Clozapine | decreases expression | 1 |
| Fonofos | increases methylation | 1 |
| Parathion | increases methylation | 1 |
| Tretinoin | affects binding | 1 |
| Triclosan | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.