APOM
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Also known as G3aNG20Apo-M
Summary
APOM (apolipoprotein M, HGNC:13916) is a protein-coding gene on chromosome 6p21.33, encoding Apolipoprotein M (O95445). Probably involved in lipid transport.
The protein encoded by this gene is an apolipoprotein and member of the lipocalin protein family. It is found associated with high density lipoproteins and to a lesser extent with low density lipoproteins and triglyceride-rich lipoproteins. The encoded protein is secreted through the plasma membrane but remains membrane-bound, where it is involved in lipid transport. Alternate splicing results in both coding and non-coding variants of this gene.
Source: NCBI Gene 55937 — RefSeq curated summary.
At a glance
- GWAS associations: 31
- Clinical variants (ClinVar): 21 total
- MANE Select transcript:
NM_019101
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13916 |
| Approved symbol | APOM |
| Name | apolipoprotein M |
| Location | 6p21.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | G3a, NG20, Apo-M |
| Ensembl gene | ENSG00000204444 |
| Ensembl biotype | protein_coding |
| OMIM | 606907 |
| Entrez | 55937 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000375916, ENST00000375918, ENST00000375920
RefSeq mRNA: 2 — MANE Select: NM_019101
NM_001256169, NM_019101
CCDS: CCDS4710, CCDS59004
Canonical transcript exons
ENST00000375916 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001629159 | 31657225 | 31657298 |
| ENSE00001694738 | 31657625 | 31657723 |
| ENSE00001747435 | 31657380 | 31657478 |
| ENSE00001773377 | 31658064 | 31658210 |
| ENSE00001834054 | 31655894 | 31656080 |
| ENSE00003491289 | 31656472 | 31656626 |
Expression profiles
Bgee: expression breadth ubiquitous, 132 present calls, max score 99.05.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.2708 / max 163.3578, expressed in 1565 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 67003 | 2.4994 | 1278 |
| 67002 | 1.4634 | 855 |
| 67006 | 0.6137 | 69 |
| 67007 | 0.4448 | 61 |
| 67008 | 0.1185 | 46 |
| 67004 | 0.1026 | 34 |
| 203946 | 0.0283 | 17 |
Top tissues by expression
133 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 99.05 | gold quality |
| liver | UBERON:0002107 | 98.56 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 95.52 | gold quality |
| kidney | UBERON:0002113 | 91.95 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.21 | gold quality |
| cortex of kidney | UBERON:0001225 | 85.70 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.69 | gold quality |
| metanephros cortex | UBERON:0010533 | 83.47 | gold quality |
| left testis | UBERON:0004533 | 82.67 | gold quality |
| testis | UBERON:0000473 | 82.31 | gold quality |
| right testis | UBERON:0004534 | 82.29 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 78.96 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 78.65 | gold quality |
| small intestine | UBERON:0002108 | 77.93 | gold quality |
| gastrocnemius | UBERON:0001388 | 77.70 | gold quality |
| muscle of leg | UBERON:0001383 | 77.52 | gold quality |
| bone marrow | UBERON:0002371 | 77.35 | gold quality |
| ganglionic eminence | UBERON:0004023 | 77.29 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 77.11 | gold quality |
| blood | UBERON:0000178 | 76.86 | gold quality |
| ventricular zone | UBERON:0003053 | 76.72 | gold quality |
| monocyte | CL:0000576 | 76.42 | gold quality |
| leukocyte | CL:0000738 | 76.42 | gold quality |
| body of pancreas | UBERON:0001150 | 76.05 | gold quality |
| right adrenal gland | UBERON:0001233 | 76.00 | gold quality |
| substantia nigra | UBERON:0002038 | 75.92 | gold quality |
| granulocyte | CL:0000094 | 75.81 | gold quality |
| left adrenal gland | UBERON:0001234 | 75.60 | gold quality |
| skin of leg | UBERON:0001511 | 75.60 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 75.57 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9388 | yes | 11.71 |
| E-MTAB-6058 | no | 21.51 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AP1, FOXA2, FOXC1, HNF1A, HNF4A, JUN, JUNB, NR0B2, NR4A2, NR5A2, PPARD, PPARG, SPI1
miRNA regulators (miRDB)
15 targeting APOM, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-4700-5P | 98.63 | 67.43 | 1915 |
| HSA-MIR-8089 | 97.74 | 66.21 | 1698 |
| HSA-MIR-4667-5P | 97.61 | 66.67 | 1683 |
| HSA-MIR-6736-3P | 96.98 | 65.22 | 1342 |
| HSA-MIR-4652-5P | 96.46 | 64.22 | 553 |
| HSA-MIR-920 | 95.97 | 63.95 | 811 |
| HSA-MIR-6726-5P | 95.97 | 63.72 | 841 |
| HSA-MIR-4300 | 95.85 | 64.56 | 1003 |
| HSA-MIR-5591-5P | 95.85 | 64.76 | 1002 |
| HSA-MIR-365A-5P | 94.91 | 63.72 | 471 |
| HSA-MIR-365B-5P | 94.91 | 63.79 | 470 |
Literature-anchored findings (GeneRIF, showing 40)
- HNF-1alpha is required for apoM expression in vivo, and heterozygous HNF-1alpha mutations lead to HNF-1alpha-dependent impairment of apoM expression. (PMID:14633861)
- During human embryogenesis, apoM was mainly expressed in liver and kidney and little was found in small intestine (PMID:15147633)
- we excluded APOM as a genetic determinant of Alzheimer disease in our large French case control population. (PMID:15172102)
- results show that Apolipoprotein M (apoM) is positively related to leptin and negatively related to cholesterol in humans (PMID:15542348)
- Results show that leptin does not significantly influence the expression of apolipoproteins AI, B and E in HepG2 cells, suggesting that leptin has a specific regulatory effect on hepatic apoM transcription and secretion in vitro. (PMID:15904876)
- study provided the first evidence that SNP T-778C in the proximal promoter region of apoM was associated with the levels of plasma cholesterol & fasting plasma glucose & also conferred risk in development of type 2 diabetes in Han Chinese (PMID:16572495)
- Results suggest that apoM is associated with a small heterogeneous subpopulation of HDL particles. (PMID:16682745)
- We demonstrated the presence of five isoforms of apo M in LDL: three that are both N-glycosylated and sialylated, one that is N-glycosylated but not sialylated, and one that is neither N-glycosylated nor sialylated. (PMID:17022639)
- Hepatic apoM expression is significantly influenced by the acute phase of hepatic ischemia-reperfusion injury. (PMID:17112825)
- the binding of retinol and retinoic acid supports the hypothesis that apoM is a lipocalin. (PMID:17525477)
- The apoM gene is a risk factor for genetic susceptibility to coronary artery disease and is also associated with total cholesterol levels in Han Chinese. (PMID:17674965)
- results of the present study suggest that the APOM T-855C polymorphism carries an increased risk for coronary artery disease in this Chinese population (PMID:17973931)
- APOM transcription is regulated by LRH-1 (PMID:17977826)
- In the setting of low density lipoprotein receptor deficiency, apoM-Tg mice with approximately 2-fold increased plasma apoM concentrations developed smaller atherosclerotic lesions than controls. (PMID:18006500)
- Apolipoprotein M is a negative acute response protein that decreases during infection and inflammation (PMID:18054359)
- This strongly indicates that the signal peptide is indeed necessary for apoM’s ability to associate with lipid. (PMID:18279674)
- Foxa2 activity increases plasma high density lipoprotein levels by regulating apolipoprotein M (PMID:18381283)
- The signal peptide anchors apolipoprotein M in plasma lipoproteins and prevents rapid clearance of apolipoprotein M from plasma (PMID:18460466)
- In conditional logistic regression analyses, apoM was not a predictor of CHD events. (PMID:18490703)
- plasma apoM levels in hepatocellular carcinoma patients were significantly increased than those in the normal subjects, but lower than those in the chronic hepatitis and cirrhosis patients (PMID:18652652)
- Data show that Allele C of SNP T-778C in Apolipoprotein M promoter may increase promoter activity and confer the risk susceptibility to the development of T1D. (PMID:19007767)
- The findings suggest that ApoM could not be an independent risk factor but a biomarker of coronary artery disease. (PMID:19100249)
- ApoM plays a part in lipoprotein metabolism; however, the biological impact of apoM in humans remains to be determined. (PMID:19200746)
- Plasma apoM is reduced in metabolic syndrome (PMID:19539616)
- Results describe the crystal structure of recombinant human apoM and show that apoM, although refolded from inclusion bodies, was in complex with fatty acids containing 14, 16 or 18 carbon atoms. (PMID:19733574)
- ApoM may function catalytically at an intracellular site to transfer lipid onto pre beta HDL during or after their formation by ABCA1. (PMID:19767535)
- hepatocellular carcinoma tissues had a reduced capacity to produce apoM than the adjacent non-tumor tissues (PMID:19796793)
- ApoA-I, apoB and apoM levels were significantly lower in patients with abdominal aortic aneurysm than in the control individuals. (PMID:19932694)
- In subjects with critical limb ischemia (CLI), plasma concentrations of apoA-I, apoB and apoM were significantly lower than in control individuals, but only apoA-I was independently associated to CLI. (PMID:20080084)
- Regulation of human apolipoprotein m gene expression by orphan and ligand-dependent nuclear receptors. (PMID:20660599)
- ApoM metabolism is to a considerable extent independent of statin- and fibrate-affected pathways involved in cholesterol homeostasis (PMID:20828695)
- ApoM is expressed in human colorectal tissues: comparison of expression in normal tissue/mucosa, adenocarcinoma (w/ or w/o lymphatic metastasis), polyps, and inflammatory mucosa. (PMID:20846402)
- Data demonstrate that ApoM T-778 C and C-1065A single-nucleotide polymorphisms were associated with increased risk of ischemic stroke in a Han Chinese population. (PMID:20872094)
- The PCSK9 pathway may contribute to plasma apoM regulation in humans. The influence of PCSK9 on circulating apoM appears to be modified by adiposity. (PMID:21122852)
- Apolipoprotein M gene (APOM) polymorphism modifies metabolic and disease traits in type 2 diabetes. (PMID:21390319)
- the human apolipoprotein M gene is regulated in opposite ways by hepatocyte nuclear factor 1 and Jun transcription factors (PMID:21454713)
- Results show that apoM, by delivering S1P to the S1P(1) receptor on endothelial cells, is a vasculoprotective constituent of HDL. (PMID:21606363)
- Single Nucleotide Polymorphism at the promoter region of the APOM gene is associated with rheumatoid arthritis. (PMID:21844665)
- Raised ApoM levels in hepatitis B virus (HBV) infection may in turn suppress HBV replication (PMID:21875437)
- Report plasma levels of sphingosine-1-phosphate and apolipoprotein M in patients with monogenic disorders of HDL metabolism. (PMID:21944699)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Apom | ENSMUSG00000024391 |
| rattus_norvegicus | Apom | ENSRNOG00000000850 |
Protein
Protein identifiers
Apolipoprotein M — O95445 (reviewed: O95445)
Alternative names: Protein G3a
All UniProt accessions (3): A0A1U9X793, O95445, Q5SRP5
UniProt curated annotations — full annotation on UniProt →
Function. Probably involved in lipid transport. Can bind sphingosine-1-phosphate, myristic acid, palmitic acid and stearic acid, retinol, all-trans-retinoic acid and 9-cis-retinoic acid.
Subunit / interactions. Interacts with LRP2; LRP2 mediates APOM renal uptake and subsequent lysosomal degradation.
Subcellular location. Secreted.
Tissue specificity. Plasma protein. Expressed in liver and kidney.
Similarity. Belongs to the calycin superfamily. Lipocalin family. Highly divergent.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O95445-1 | 1 | yes |
| O95445-2 | 2 |
RefSeq proteins (2): NP_001243098, NP_061974* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR012674 | Calycin | Homologous_superfamily |
| IPR022734 | ApoM | Family |
Pfam: PF11032
UniProt features (27 total): strand 9, helix 4, mutagenesis site 3, disulfide bond 3, sequence conflict 2, binding site 2, chain 1, signal peptide 1, glycosylation site 1, splice variant 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2YG2 | X-RAY DIFFRACTION | 1.7 |
| 2WEW | X-RAY DIFFRACTION | 1.95 |
| 2WEX | X-RAY DIFFRACTION | 2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95445-F1 | 89.61 | 0.68 |
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 (2): 136; 143
Disulfide bonds (3): 23–167, 95–183, 128–157
Glycosylation sites (1): 135
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 135 | loss of glycosylation. |
| 148 | no loss of glycosylation. |
| 22 | introduces a signal cleavage site. abolishes interaction with lipoprotein particles. leads to rapid elimination from pla |
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-975634 | Retinoid metabolism and transport |
| R-HSA-1430728 | Metabolism |
| R-HSA-196854 | Metabolism of vitamins and cofactors |
| R-HSA-2187338 | Visual phototransduction |
| R-HSA-6806667 | Metabolism of fat-soluble vitamins |
| R-HSA-9709957 | Sensory Perception |
MSigDB gene sets: 144 (showing top):
GOBP_STEROL_HOMEOSTASIS, GOBP_LIPOPROTEIN_METABOLIC_PROCESS, MODULE_45, HNF1_Q6, GOBP_PROTEIN_LIPID_COMPLEX_ASSEMBLY, COUP_01, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_LIPID_HOMEOSTASIS, GOBP_CHOLESTEROL_EFFLUX, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_PLASMA_LIPOPROTEIN_PARTICLE_CLEARANCE, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_UP, GOBP_CELLULAR_RESPONSE_TO_TOXIC_SUBSTANCE, RGTTAMWNATT_HNF1_01
GO Biological Process (10): cholesterol efflux (GO:0033344), high-density lipoprotein particle remodeling (GO:0034375), high-density lipoprotein particle assembly (GO:0034380), high-density lipoprotein particle clearance (GO:0034384), negative regulation of plasma lipoprotein oxidation (GO:0034445), lipoprotein metabolic process (GO:0042157), cholesterol homeostasis (GO:0042632), reverse cholesterol transport (GO:0043691), lipid transport (GO:0006869), cellular oxidant detoxification (GO:0098869)
GO Molecular Function (3): lipid carrier activity (GO:0005319), phospholipid binding (GO:0005543), antioxidant activity (GO:0016209)
GO Cellular Component (7): extracellular region (GO:0005576), very-low-density lipoprotein particle (GO:0034361), low-density lipoprotein particle (GO:0034362), high-density lipoprotein particle (GO:0034364), discoidal high-density lipoprotein particle (GO:0034365), spherical high-density lipoprotein particle (GO:0034366), obsolete extracellular space (GO:0005615)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Visual phototransduction | 1 |
| Metabolism of fat-soluble vitamins | 1 |
| Metabolism | 1 |
| Sensory Perception | 1 |
| Metabolism of vitamins and cofactors | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cholesterol transport | 2 |
| plasma lipoprotein particle | 2 |
| high-density lipoprotein particle | 2 |
| plasma lipoprotein particle remodeling | 1 |
| plasma lipoprotein particle assembly | 1 |
| plasma lipoprotein particle clearance | 1 |
| plasma lipoprotein particle oxidation | 1 |
| regulation of plasma lipoprotein oxidation | 1 |
| negative regulation of cellular component organization | 1 |
| negative regulation of multicellular organismal process | 1 |
| protein metabolic process | 1 |
| sterol homeostasis | 1 |
| transport | 1 |
| lipid localization | 1 |
| cellular detoxification | 1 |
| molecular carrier activity | 1 |
| lipid binding | 1 |
| molecular_function | 1 |
| cellular oxidant detoxification | 1 |
| cellular anatomical structure | 1 |
| triglyceride-rich plasma lipoprotein particle | 1 |
Protein interactions and networks
STRING
1088 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| APOM | GPANK1 | O95872 | 967 |
| APOM | APOA2 | P02652 | 856 |
| APOM | S1PR2 | O95136 | 853 |
| APOM | APOA4 | P06727 | 824 |
| APOM | APOA1 | P02647 | 819 |
| APOM | APOE | P02649 | 797 |
| APOM | APOD | P05090 | 785 |
| APOM | APOC1 | P02654 | 776 |
| APOM | APOA5 | Q6Q788 | 773 |
| APOM | APOC3 | P02656 | 768 |
| APOM | APOC2 | P02655 | 766 |
| APOM | APOF | Q13790 | 765 |
| APOM | CLU | P10909 | 751 |
| APOM | APOL1 | O14791 | 740 |
| APOM | APOH | P02749 | 721 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SEC11C | APOM | psi-mi:“MI:0914”(association) | 0.530 |
| APOM | HLA-A | psi-mi:“MI:0914”(association) | 0.350 |
| APOM | CT45A8 | psi-mi:“MI:0914”(association) | 0.350 |
| APOM | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| APOM | DST | psi-mi:“MI:0914”(association) | 0.350 |
| GPC3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| psi-mi:“MI:0914”(association) | 0.350 | ||
| KLF6 | APOM | psi-mi:“MI:0915”(physical association) | 0.000 |
| C8orf30A | APOM | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (48): CT45A2 (Affinity Capture-MS), USP16 (Affinity Capture-MS), APOM (Affinity Capture-MS), CNTNAP3 (Affinity Capture-MS), CDYL (Affinity Capture-MS), APOM (Two-hybrid), APOM (Two-hybrid), APOM (Affinity Capture-MS), USP16 (Affinity Capture-MS), CT45A2 (Affinity Capture-MS), ADAM21 (Affinity Capture-MS), CLSTN3 (Affinity Capture-MS), GPX8 (Affinity Capture-MS), CNNM3 (Affinity Capture-MS), HS6ST1 (Affinity Capture-MS)
ESM2 similar proteins: A2AEP0, A2AJB7, M5AXY1, O18874, O95445, P00978, P02753, P02763, P02764, P04916, P04939, P06910, P06911, P06912, P07361, P09465, P11944, P14630, P19652, P21350, P21352, P21760, P27485, P35578, P36992, P41263, P61641, P81608, Q00724, Q07456, Q28369, Q28388, Q29147, Q29614, Q2LE37, Q3SZR3, Q5R894, Q5VFH6, Q60559, Q60590
Diamond homologs: O95445, P14630, Q2LE37, Q5R894, Q9Z1R3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
21 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 10 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
702 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:31656631:GTG:G | donor_gain | 1.0000 |
| 6:31657475:TACA:T | donor_gain | 1.0000 |
| 6:31657477:CA:C | donor_gain | 1.0000 |
| 6:31657479:G:GG | donor_gain | 1.0000 |
| 6:31657483:G:GG | donor_gain | 1.0000 |
| 6:31657622:CAGA:C | acceptor_loss | 1.0000 |
| 6:31657623:A:AG | acceptor_gain | 1.0000 |
| 6:31657624:G:GG | acceptor_gain | 1.0000 |
| 6:31657624:GATC:G | acceptor_gain | 1.0000 |
| 6:31656470:A:AG | acceptor_gain | 0.9900 |
| 6:31656471:G:GG | acceptor_gain | 0.9900 |
| 6:31656623:GCAT:G | donor_gain | 0.9900 |
| 6:31656627:G:GG | donor_gain | 0.9900 |
| 6:31656629:GAGTG:G | donor_gain | 0.9900 |
| 6:31657205:T:TA | acceptor_gain | 0.9900 |
| 6:31657209:A:AG | acceptor_gain | 0.9900 |
| 6:31657210:C:G | acceptor_gain | 0.9900 |
| 6:31657212:A:AG | acceptor_gain | 0.9900 |
| 6:31657213:C:G | acceptor_gain | 0.9900 |
| 6:31657215:A:AG | acceptor_gain | 0.9900 |
| 6:31657216:C:G | acceptor_gain | 0.9900 |
| 6:31657220:TGCA:T | acceptor_loss | 0.9900 |
| 6:31657221:GCA:G | acceptor_loss | 0.9900 |
| 6:31657223:A:AT | acceptor_loss | 0.9900 |
| 6:31657224:G:A | acceptor_loss | 0.9900 |
| 6:31657224:GGAAA:G | acceptor_gain | 0.9900 |
| 6:31657275:G:GT | donor_gain | 0.9900 |
| 6:31657376:ACAGG:A | acceptor_loss | 0.9900 |
| 6:31657377:CAGGC:C | acceptor_loss | 0.9900 |
| 6:31657378:A:AG | acceptor_gain | 0.9900 |
AlphaMissense
1239 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:31657255:G:C | W100C | 0.994 |
| 6:31657255:G:T | W100C | 0.994 |
| 6:31656496:T:A | W47R | 0.990 |
| 6:31656496:T:C | W47R | 0.990 |
| 6:31657253:T:A | W100R | 0.990 |
| 6:31657253:T:C | W100R | 0.990 |
| 6:31656498:G:C | W47C | 0.985 |
| 6:31656498:G:T | W47C | 0.985 |
| 6:31656508:G:C | A51P | 0.984 |
| 6:31656545:T:G | F63C | 0.983 |
| 6:31657287:T:C | L111P | 0.983 |
| 6:31656544:T:C | F63L | 0.982 |
| 6:31656546:T:A | F63L | 0.982 |
| 6:31656546:T:G | F63L | 0.982 |
| 6:31656502:T:C | F49L | 0.981 |
| 6:31656504:T:A | F49L | 0.981 |
| 6:31656504:T:G | F49L | 0.981 |
| 6:31657437:T:C | L134P | 0.981 |
| 6:31656568:T:C | F71L | 0.980 |
| 6:31656570:C:A | F71L | 0.980 |
| 6:31656570:C:G | F71L | 0.980 |
| 6:31657470:T:C | L145P | 0.979 |
| 6:31657663:T:C | F161L | 0.979 |
| 6:31657664:T:C | F161S | 0.979 |
| 6:31657665:C:A | F161L | 0.979 |
| 6:31657665:C:G | F161L | 0.979 |
| 6:31656514:G:C | A53P | 0.978 |
| 6:31657475:T:G | Y147D | 0.978 |
| 6:31656503:T:C | F49S | 0.977 |
| 6:31656623:G:C | R89P | 0.977 |
dbSNP variants (sampled 300 via entrez): RS1000107232 (6:31653962 T>G), RS1001164231 (6:31652319 A>C), RS1001492417 (6:31652661 C>A), RS1001781736 (6:31655079 C>T), RS1002778502 (6:31654294 T>C), RS1002863890 (6:31656183 G>C), RS1003240910 (6:31654581 T>C), RS1003454247 (6:31656934 C>G,T), RS1003739612 (6:31650479 C>A,G,T), RS1003806338 (6:31656885 G>A), RS1003859566 (6:31657993 C>G,T), RS1004403111 (6:31650438 G>A,C), RS1005075513 (6:31654748 A>G), RS1005421656 (6:31650922 A>G), RS1005477810 (6:31658629 C>T)
Disease associations
OMIM: gene MIM:606907 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
31 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000506_1 | Lung adenocarcinoma | 5.000000e-12 |
| GCST001203_1 | Rheumatoid arthritis | 3.000000e-10 |
| GCST004131_25 | Inflammatory bowel disease | 2.000000e-31 |
| GCST004133_79 | Ulcerative colitis | 5.000000e-65 |
| GCST004521_114 | Autism spectrum disorder or schizophrenia | 3.000000e-17 |
| GCST004521_117 | Autism spectrum disorder or schizophrenia | 3.000000e-15 |
| GCST004521_126 | Autism spectrum disorder or schizophrenia | 2.000000e-10 |
| GCST004521_154 | Autism spectrum disorder or schizophrenia | 3.000000e-08 |
| GCST004521_17 | Autism spectrum disorder or schizophrenia | 2.000000e-12 |
| GCST004521_209 | Autism spectrum disorder or schizophrenia | 5.000000e-16 |
| GCST004521_211 | Autism spectrum disorder or schizophrenia | 5.000000e-15 |
| GCST004521_213 | Autism spectrum disorder or schizophrenia | 5.000000e-13 |
| GCST004521_224 | Autism spectrum disorder or schizophrenia | 5.000000e-10 |
| GCST004521_227 | Autism spectrum disorder or schizophrenia | 4.000000e-12 |
| GCST004521_265 | Autism spectrum disorder or schizophrenia | 7.000000e-14 |
| GCST004521_281 | Autism spectrum disorder or schizophrenia | 5.000000e-09 |
| GCST004521_45 | Autism spectrum disorder or schizophrenia | 2.000000e-16 |
| GCST004521_70 | Autism spectrum disorder or schizophrenia | 8.000000e-20 |
| GCST004521_81 | Autism spectrum disorder or schizophrenia | 1.000000e-14 |
| GCST004748_109 | Lung cancer | 9.000000e-19 |
| GCST004749_5 | Lung cancer in ever smokers | 4.000000e-14 |
| GCST004750_57 | Squamous cell lung carcinoma | 8.000000e-18 |
| GCST005541_17 | Sarcoidosis (Lofgren’s syndrome vs non-Lofgren’s syndrome) | 1.000000e-30 |
| GCST006585_631 | Blood protein levels | 3.000000e-06 |
| GCST008916_111 | Asthma | 2.000000e-14 |
| GCST008916_114 | Asthma | 1.000000e-09 |
| GCST008916_30 | Asthma | 1.000000e-09 |
| GCST008917_2 | Asthma (childhood onset) | 4.000000e-07 |
| GCST008921_1 | Asthma and major depressive disorder | 2.000000e-16 |
| GCST010725_43 | Malaria | 5.000000e-07 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression | 4 |
| bisphenol A | increases expression, decreases reaction, increases abundance, affects expression, affects cotreatment (+1 more) | 3 |
| Benzo(a)pyrene | affects methylation, decreases expression | 2 |
| Dimethyl Sulfoxide | affects expression, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Quercetin | affects cotreatment, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Simvastatin | decreases expression, increases expression, decreases reaction | 2 |
| ginger extract | increases expression, decreases reaction, increases abundance | 1 |
| urushiol | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| decabromobiphenyl ether | affects expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| tanshinone | increases expression | 1 |
| benazol P | affects expression | 1 |
| ciglitazone | affects binding, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| corosolic acid | increases expression | 1 |
| T0901317 | decreases reaction, increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| 2,3,5-trichloro-6-phenyl-(1,4)benzoquinone | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): childhood onset asthma, lung adenocarcinoma, lung carcinoma, malaria, rheumatoid arthritis, sarcoidosis, squamous cell lung carcinoma, ulcerative colitis