AWAT2
gene geneOn this page
Also known as MFAT
Summary
AWAT2 (acyl-CoA wax alcohol acyltransferase 2, HGNC:23251) is a protein-coding gene on chromosome Xq13.1, encoding Acyl-CoA wax alcohol acyltransferase 2 (Q6E213). Acyltransferase that catalyzes the formation of ester bonds between fatty alcohols and fatty acyl-CoAs to form wax monoesters.
This gene encodes an enzyme belonging to the diacylglycerol acyltransferase family. This enzyme produces wax esters by the esterification of long chain (or wax) alcohols with acyl-CoA-derived fatty acids. It functions in lipid metabolism in the skin, mostly in undifferentiated peripheral sebocytes. This enzyme may also have acyl-CoA:retinol acyltransferase activities, where it catalyzes the synthesis of diacylglycerols and retinyl esters.
Source: NCBI Gene 158835 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 33 total — 1 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_001002254
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23251 |
| Approved symbol | AWAT2 |
| Name | acyl-CoA wax alcohol acyltransferase 2 |
| Location | Xq13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MFAT |
| Ensembl gene | ENSG00000147160 |
| Ensembl biotype | protein_coding |
| OMIM | 300925 |
| Entrez | 158835 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 2 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000276101, ENST00000440401, ENST00000443056, ENST00000949827
RefSeq mRNA: 1 — MANE Select: NM_001002254
NM_001002254
CCDS: CCDS35320
Canonical transcript exons
ENST00000276101 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000979015 | 70043926 | 70043996 |
| ENSE00001163136 | 70044352 | 70044462 |
| ENSE00001418270 | 70040542 | 70041622 |
| ENSE00001463789 | 70049848 | 70049938 |
| ENSE00001711291 | 70043069 | 70043243 |
| ENSE00001796297 | 70042187 | 70042386 |
| ENSE00003520941 | 70041773 | 70041962 |
| ENSE00003642001 | 70043478 | 70043682 |
Expression profiles
Bgee: expression breadth broad, 28 present calls, max score 83.04.
Top tissues by expression
112 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| quadriceps femoris | UBERON:0001377 | 83.04 | gold quality |
| cerebellar vermis | UBERON:0004720 | 82.54 | gold quality |
| thymus | UBERON:0002370 | 82.10 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 70.80 | gold quality |
| skin of abdomen | UBERON:0001416 | 60.98 | gold quality |
| zone of skin | UBERON:0000014 | 56.51 | gold quality |
| skin of leg | UBERON:0001511 | 53.13 | gold quality |
| right testis | UBERON:0004534 | 49.60 | gold quality |
| left testis | UBERON:0004533 | 47.41 | gold quality |
| testis | UBERON:0000473 | 46.98 | gold quality |
| sural nerve | UBERON:0015488 | 43.75 | gold quality |
| right lung | UBERON:0002167 | 42.34 | gold quality |
| ventricular zone | UBERON:0003053 | 40.62 | silver quality |
| upper lobe of left lung | UBERON:0008952 | 38.80 | gold quality |
| calcaneal tendon | UBERON:0003701 | 38.19 | gold quality |
| bone marrow cell | CL:0002092 | 38.10 | gold quality |
| lung | UBERON:0002048 | 37.89 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 37.56 | gold quality |
| ganglionic eminence | UBERON:0004023 | 37.54 | silver quality |
| muscle tissue | UBERON:0002385 | 37.34 | silver quality |
| colonic epithelium | UBERON:0000397 | 37.20 | gold quality |
| cortical plate | UBERON:0005343 | 36.47 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 35.28 | gold quality |
| granulocyte | CL:0000094 | 34.93 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 34.90 | silver quality |
| vermiform appendix | UBERON:0001154 | 34.74 | gold quality |
| bone marrow | UBERON:0002371 | 34.27 | silver quality |
| adrenal tissue | UBERON:0018303 | 33.36 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 32.15 | gold quality |
| tonsil | UBERON:0002372 | 32.13 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.13 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
61 targeting AWAT2, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-6762-3P | 99.66 | 66.94 | 1188 |
| HSA-MIR-6512-3P | 99.65 | 66.07 | 1468 |
| HSA-MIR-6720-5P | 99.65 | 66.22 | 1459 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-9851-3P | 99.63 | 69.68 | 1110 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-6716-5P | 99.56 | 68.62 | 1244 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-889-5P | 99.41 | 68.75 | 1025 |
| HSA-MIR-4316 | 99.37 | 65.75 | 1360 |
| HSA-MIR-593-5P | 99.34 | 69.50 | 965 |
| HSA-MIR-4506 | 99.34 | 67.47 | 526 |
| HSA-MIR-4721 | 99.26 | 66.05 | 818 |
| HSA-MIR-5584-3P | 99.23 | 68.79 | 1351 |
| HSA-MIR-1253 | 99.12 | 67.08 | 1688 |
| HSA-MIR-4434 | 99.10 | 67.01 | 1984 |
| HSA-MIR-5703 | 99.10 | 67.09 | 2053 |
| HSA-MIR-4705 | 99.10 | 69.10 | 1091 |
| HSA-MIR-371A-5P | 99.08 | 66.51 | 1914 |
| HSA-MIR-4717-3P | 99.06 | 66.34 | 1072 |
| HSA-MIR-670-3P | 99.03 | 68.88 | 2404 |
| HSA-MIR-922 | 99.02 | 67.23 | 1838 |
Literature-anchored findings (GeneRIF, showing 3)
- analysis of AWAT1 and AWAT2 substrate specificity and differentiation-specific expression pattern (PMID:15671038)
- MFAT is a multifunctional acyltransferase that likely plays an important role in lipid metabolism in human skin. (PMID:16106050)
- Expression of Acyl-CoA wax-alcohol acyltransferase 2 (AWAT2) by human and rabbit meibomian glands and meibocytes. (PMID:34838721)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Awat2 | ENSMUSG00000031220 |
| rattus_norvegicus | Awat2 | ENSRNOG00000003030 |
| drosophila_melanogaster | CG1941 | FBGN0033214 |
| drosophila_melanogaster | Dgat2 | FBGN0033215 |
| drosophila_melanogaster | CG1946 | FBGN0033216 |
| caenorhabditis_elegans | WBGENE00010296 | |
| caenorhabditis_elegans | WBGENE00019464 | |
| caenorhabditis_elegans | WBGENE00020910 | |
| caenorhabditis_elegans | WBGENE00021818 |
Paralogs (6): DGAT2 (ENSG00000062282), MOGAT3 (ENSG00000106384), MOGAT1 (ENSG00000124003), MOGAT2 (ENSG00000166391), DGAT2L6 (ENSG00000184210), AWAT1 (ENSG00000204195)
Protein
Protein identifiers
Acyl-CoA wax alcohol acyltransferase 2 — Q6E213 (reviewed: Q6E213)
Alternative names: 11-cis-specific retinyl-ester synthase, Acyl-CoA retinol O-fatty-acyltransferase, Diacylglycerol O-acyltransferase 2-like protein 4, Diacylglycerol O-acyltransferase candidate 4, Long-chain-alcohol O-fatty-acyltransferase 2, Multifunctional O-acyltransferase, Wax synthase
All UniProt accessions (2): Q6E213, H0YAL0
UniProt curated annotations — full annotation on UniProt →
Function. Acyltransferase that catalyzes the formation of ester bonds between fatty alcohols and fatty acyl-CoAs to form wax monoesters. Shows a preference for medium chain acyl-CoAs from C12 to C16 in length and fatty alcohols shorter than C20, as the acyl donors and acceptors, respectively. Also possesses acyl-CoA retinol acyltransferase (ARAT) activity that preferentially esterifies 11-cis-retinol, a chromophore precursor of bleached opsin pigments in cone cells. Shows higher catalytic efficiency toward 11-cis-retinol versus 9-cis-retinol, 13-cis-retinol, and all-trans-retinol substrates.
Subunit / interactions. Monomer.
Subcellular location. Endoplasmic reticulum membrane.
Tissue specificity. Highly expressed in skin, where it is primarily restricted to undifferentiated peripheral sebocytes. Also expressed at lower level in other tissues except pancreas.
Activity regulation. 11-cis retinoids act as allosteric modulators of acyl-CoA retinol O-fatty-acyltransferase (ARAT) activity by suppressing esterification of 9-cis, 13-cis, or all-trans retinols concurrently increasing the enzyme specificity toward 11-cis isomer.
Similarity. Belongs to the diacylglycerol acyltransferase family.
RefSeq proteins (1): NP_001002254* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007130 | DAGAT | Family |
Pfam: PF03982
Enzyme classification (BRENDA):
- EC 2.3.1.75 — long-chain-alcohol O-fatty-acyltransferase (BRENDA: 24 organisms, 473 substrates, 10 inhibitors, 48 Km, 37 kcat entries)
Substrate kinetics (BRENDA)
17 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| PALMITOYL-COA | 0.0031–0.029 | 6 |
| ARACHIDONOYL-COA | 0.2263–0.2972 | 4 |
| DECANOYL-COA | 0.001–0.0176 | 4 |
| EICOSAPENTAENOYL-COA | 0.1016–0.1312 | 4 |
| LAUROYL-COA | 0.0001–0.0259 | 4 |
| MYRISTOYL-COA | 0.0039–0.0185 | 4 |
| OCTADECATRIENOYL-COA | 0.2809–0.2847 | 4 |
| OCTANOYL-COA | 0.0123–0.0299 | 4 |
| STEAROYL-COA | 0.0192–0.0759 | 4 |
| 11-CIS-RETINOL | 0.0262 | 1 |
| 13-CIS-RETINOL | 0.0352 | 1 |
| 9-CIS-RETINOL | 0.0238 | 1 |
| ALL-TRANS-RETINOL | 0.0236 | 1 |
| HEXADECANOL | 0.044 | 1 |
| HEXAN-1-OL | 2.4 | 1 |
Catalyzed reactions (Rhea), 12 shown:
- an acyl-CoA + a 1,2-diacyl-sn-glycerol = a triacyl-sn-glycerol + CoA (RHEA:10868)
- all-trans-retinol + an acyl-CoA = an all-trans-retinyl ester + CoA (RHEA:11488)
- a 2-acylglycerol + an acyl-CoA = a 1,2-diacyl-sn-glycerol + CoA (RHEA:32947)
- 1-(9Z-octadecenoyl)-glycerol + (9Z)-octadecenoyl-CoA = 1,2-di-(9Z-octadecenoyl)-glycerol + CoA (RHEA:37915)
- 2-(9Z-octadecenoyl)-glycerol + hexadecanoyl-CoA = 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycerol + CoA (RHEA:38071)
- 1,2-di-(9Z-octadecenoyl)-sn-glycerol + hexadecanoyl-CoA = 1,2-di-(9Z)-octadecenoyl-3-hexadecanoyl-sn-glycerol + CoA (RHEA:38163)
- hexadecan-1-ol + hexadecanoyl-CoA = hexadecyl hexadecanoate + CoA (RHEA:38167)
- hexadecane-1,2-diol + hexadecanoyl-CoA = 2-hydroxyhexadecyl hexadecanoate + CoA (RHEA:38171)
- all-trans-retinol + hexadecanoyl-CoA = all-trans-retinyl hexadecanoate + CoA (RHEA:38175)
- 1,2-di-(9Z-octadecenoyl)-sn-glycerol + (9Z)-octadecenoyl-CoA = 1,2,3-tri-(9Z-octadecenoyl)-glycerol + CoA (RHEA:38219)
- hexadecan-1-ol + (9Z)-octadecenoyl-CoA = hexadecyl (9Z)-octadecenoate + CoA (RHEA:38227)
- (9Z)-hexadecen-1-ol + (9Z)-octadecenoyl-CoA = 1-O-(9Z)-hexadecenyl (9Z)-octadecenoate + CoA (RHEA:38231)
UniProt features (4 total): transmembrane region 3, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6E213-F1 | 94.34 | 0.86 |
Function
Pathways and Gene Ontology
Reactome pathways
10 pathways
| ID | Pathway |
|---|---|
| R-HSA-1482883 | Acyl chain remodeling of DAG and TAG |
| R-HSA-2187335 | The retinoid cycle in cones (daylight vision) |
| R-HSA-9640463 | Wax biosynthesis |
| R-HSA-1430728 | Metabolism |
| R-HSA-1483206 | Glycerophospholipid biosynthesis |
| R-HSA-1483257 | Phospholipid metabolism |
| R-HSA-2187338 | Visual phototransduction |
| R-HSA-556833 | Metabolism of lipids |
| R-HSA-8848584 | Wax and plasmalogen biosynthesis |
| R-HSA-9709957 | Sensory Perception |
MSigDB gene sets: 50 (showing top):
GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_RETINOL_METABOLIC_PROCESS, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_GLYCEROLIPID_BIOSYNTHETIC_PROCESS, GOBP_NEUTRAL_LIPID_BIOSYNTHETIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_NEUTRAL_LIPID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, GOBP_FATTY_ACID_DERIVATIVE_BIOSYNTHETIC_PROCESS, KEGG_GLYCEROLIPID_METABOLISM, GOBP_FATTY_ACID_DERIVATIVE_METABOLIC_PROCESS, GOBP_ISOPRENOID_METABOLIC_PROCESS, GOBP_PRIMARY_ALCOHOL_METABOLIC_PROCESS, GOBP_ALCOHOL_METABOLIC_PROCESS
GO Biological Process (6): retinoid metabolic process (GO:0001523), lipid metabolic process (GO:0006629), monoacylglycerol biosynthetic process (GO:0006640), wax biosynthetic process (GO:0010025), acylglycerol acyl-chain remodeling (GO:0036155), retinol metabolic process (GO:0042572)
GO Molecular Function (7): 2-acylglycerol O-acyltransferase activity (GO:0003846), diacylglycerol O-acyltransferase activity (GO:0004144), long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196), retinol O-fatty-acyltransferase activity (GO:0050252), obsolete O-acyltransferase activity (GO:0008374), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)
GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| Metabolism of lipids | 2 |
| Glycerophospholipid biosynthesis | 1 |
| Visual phototransduction | 1 |
| Wax and plasmalogen biosynthesis | 1 |
| Phospholipid metabolism | 1 |
| Sensory Perception | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| acylglycerol O-acyltransferase activity | 2 |
| acyltransferase activity, transferring groups other than amino-acyl groups | 2 |
| diterpenoid metabolic process | 1 |
| primary metabolic process | 1 |
| monoacylglycerol metabolic process | 1 |
| acylglycerol biosynthetic process | 1 |
| wax metabolic process | 1 |
| fatty acid derivative biosynthetic process | 1 |
| acylglycerol metabolic process | 1 |
| retinoid metabolic process | 1 |
| primary alcohol metabolic process | 1 |
| hormone metabolic process | 1 |
| olefinic compound metabolic process | 1 |
| retinol metabolic process | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
590 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| AWAT2 | ICAM1 | P05362 | 892 |
| AWAT2 | ENY2 | Q9NPA8 | 821 |
| AWAT2 | ZDHHC4 | Q9NPG8 | 802 |
| AWAT2 | NSL1 | Q96IY1 | 727 |
| AWAT2 | CMC2 | Q9NRP2 | 666 |
| AWAT2 | PROCR | Q9UNN8 | 634 |
| AWAT2 | NXT2 | Q9NPJ8 | 542 |
| AWAT2 | CD36 | P16671 | 531 |
| AWAT2 | SCARB2 | Q14108 | 528 |
| AWAT2 | SCARB1 | Q8WTV0 | 524 |
| AWAT2 | FBXO8 | Q9NRD0 | 523 |
| AWAT2 | FAM162A | Q96A26 | 507 |
| AWAT2 | ALB | P02768 | 458 |
| AWAT2 | FAR2 | Q96K12 | 458 |
| AWAT2 | PECAM1 | P16284 | 457 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| AWAT2 | HPCAL1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (4): AWAT2 (Positive Genetic), UBE3A (Affinity Capture-MS), HERC3 (Affinity Capture-MS), HPCAL1 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GVX0, A2ADU8, A2ADU9, A2Y075, A6QP72, O82232, P34655, P55017, P55018, P56508, P59158, P68178, P68179, Q0DKW8, Q0VBW2, Q22701, Q3ZCB2, Q53GD3, Q54RZ2, Q5REK4, Q5RJI2, Q5TYP8, Q66I68, Q6DK93, Q6DK99, Q6E1M8, Q6E213, Q6GMG8, Q6GZQ0, Q6NUC1, Q6P828, Q6PCW6, Q6ZPD8, Q8H5T6, Q8NG11, Q8QZY6, Q8S5M8, Q91VA1, Q9ARD5, Q9BYD5
Diamond homologs: A2ADU8, A2ADU9, A6QP72, K7K424, O74850, Q08650, Q28C88, Q2KHS5, Q3KPP4, Q3SYC2, Q4V9F0, Q54GC1, Q58HT5, Q5FVP8, Q5M7F4, Q5M8H5, Q6E1M8, Q6E213, Q6P342, Q6PAZ3, Q6ZPD8, Q70VZ7, Q70VZ8, Q75BY0, Q80W94, Q86VF5, Q91ZV4, Q96PD6, Q96PD7, Q96UY1, Q96UY2, Q9ASU1, Q9DCV3, A1A442, Q9ZVN2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
33 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 25 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1526803 | GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671) | Pathogenic |
SpliceAI
1124 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:70041959:CCGA:C | acceptor_gain | 1.0000 |
| X:70041960:CGAC:C | acceptor_gain | 1.0000 |
| X:70041963:C:CC | acceptor_gain | 1.0000 |
| X:70041967:C:CT | acceptor_gain | 1.0000 |
| X:70041968:A:T | acceptor_gain | 1.0000 |
| X:70041976:CAG:C | acceptor_gain | 1.0000 |
| X:70041977:A:T | acceptor_gain | 1.0000 |
| X:70041978:G:C | acceptor_gain | 1.0000 |
| X:70041978:G:GC | acceptor_gain | 1.0000 |
| X:70042181:ACTC:A | donor_loss | 1.0000 |
| X:70042182:CT:C | donor_loss | 1.0000 |
| X:70042183:TCAC:T | donor_loss | 1.0000 |
| X:70042184:CACC:C | donor_loss | 1.0000 |
| X:70042185:A:AC | donor_gain | 1.0000 |
| X:70042186:C:CC | donor_gain | 1.0000 |
| X:70042186:C:CG | donor_loss | 1.0000 |
| X:70042319:C:CT | acceptor_gain | 1.0000 |
| X:70042358:C:CT | acceptor_gain | 1.0000 |
| X:70042358:C:T | acceptor_gain | 1.0000 |
| X:70042383:CACC:C | acceptor_gain | 1.0000 |
| X:70042385:CC:C | acceptor_gain | 1.0000 |
| X:70042386:CC:C | acceptor_gain | 1.0000 |
| X:70042387:C:CC | acceptor_gain | 1.0000 |
| X:70043241:CCC:C | acceptor_gain | 1.0000 |
| X:70043242:CCC:C | acceptor_gain | 1.0000 |
| X:70043683:C:CC | acceptor_gain | 1.0000 |
| X:70044346:GCTTA:G | donor_loss | 1.0000 |
| X:70044347:CTTAC:C | donor_loss | 1.0000 |
| X:70044348:TTA:T | donor_loss | 1.0000 |
| X:70044349:TACC:T | donor_loss | 1.0000 |
AlphaMissense
2180 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:70041865:A:C | F315L | 0.972 |
| X:70041865:A:T | F315L | 0.972 |
| X:70041867:A:G | F315L | 0.972 |
| X:70042359:A:C | F225L | 0.970 |
| X:70042359:A:T | F225L | 0.970 |
| X:70042361:A:G | F225L | 0.970 |
| X:70043092:A:C | F208L | 0.969 |
| X:70043092:A:T | F208L | 0.969 |
| X:70043094:A:G | F208L | 0.969 |
| X:70041853:C:A | K319N | 0.963 |
| X:70041853:C:G | K319N | 0.963 |
| X:70043498:C:A | R151I | 0.961 |
| X:70043935:G:C | F86L | 0.956 |
| X:70043935:G:T | F86L | 0.956 |
| X:70043937:A:G | F86L | 0.956 |
| X:70043497:T:A | R151S | 0.953 |
| X:70043497:T:G | R151S | 0.953 |
| X:70041962:A:T | V283D | 0.947 |
| X:70043557:A:C | F131L | 0.941 |
| X:70043557:A:T | F131L | 0.941 |
| X:70043559:A:G | F131L | 0.941 |
| X:70043569:G:C | F127L | 0.941 |
| X:70043569:G:T | F127L | 0.941 |
| X:70043571:A:G | F127L | 0.941 |
| X:70042213:G:T | P274H | 0.940 |
| X:70044385:A:G | W55R | 0.940 |
| X:70044385:A:T | W55R | 0.940 |
| X:70041878:A:G | L311P | 0.938 |
| X:70043498:C:G | R151T | 0.938 |
| X:70042367:A:C | Y223D | 0.937 |
dbSNP variants (sampled 300 via entrez): RS1000110599 (X:70051476 A>AC), RS1000279198 (X:70041475 C>T), RS1000405795 (X:70050187 G>A), RS1000797425 (X:70041131 G>A), RS1001570251 (X:70048407 T>G), RS1001786052 (X:70042237 G>A), RS1001957712 (X:70050728 C>T), RS1002308976 (X:70045492 G>A), RS1002915408 (X:70043862 C>A), RS1002961269 (X:70046742 T>G), RS1003213524 (X:70044249 C>A), RS1003777779 (X:70042756 G>A), RS1004189924 (X:70040149 A>G,T), RS1004244049 (X:70040667 G>A), RS1004370168 (X:70048818 G>A)
Disease associations
OMIM: gene MIM:300925 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2375204 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
9 total (human), top 9 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases methylation | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation, increases methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Endosulfan | decreases expression | 1 |
| Phthalic Acids | decreases expression | 1 |
| Smoke | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL2378804 | Binding | Inhibition of human recombinant AWAT2 expressed in insect cell membrane using cetyl alcohol and [14C]oleoyl coenzyme A as substrate after 10 to 15 mins by liquid scintillation counting | Identification and design of a novel series of MGAT2 inhibitors. — Bioorg Med Chem Lett |
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.