TMEM68
gene geneOn this page
Also known as FLJ32370DIESL
Summary
TMEM68 (transmembrane protein 68, HGNC:26510) is a protein-coding gene on chromosome 8q12.1, encoding DGAT1/2-independent enzyme synthesizing storage lipids (Q96MH6). Catalytic subunit of the alternative triglyceride biosynthesis pathway, which mediates formation of triacylglycerol from diacylglycerol and membrane phospholipids.
Enables phospholipid:diacylglycerol acyltransferase activity. Involved in triglyceride biosynthetic process. Is active in endoplasmic reticulum membrane.
Source: NCBI Gene 137695 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 39 total
- MANE Select transcript:
NM_001286657
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26510 |
| Approved symbol | TMEM68 |
| Name | transmembrane protein 68 |
| Location | 8q12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ32370, DIESL |
| Ensembl gene | ENSG00000167904 |
| Ensembl biotype | protein_coding |
| Entrez | 137695 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 19 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron
ENST00000334667, ENST00000434581, ENST00000517576, ENST00000519460, ENST00000519780, ENST00000519784, ENST00000520061, ENST00000520414, ENST00000521229, ENST00000522030, ENST00000522090, ENST00000522470, ENST00000522576, ENST00000523073, ENST00000523180, ENST00000523423, ENST00000524121, ENST00000617782, ENST00000881274, ENST00000881275, ENST00000881276, ENST00000881277, ENST00000939843, ENST00000939844
RefSeq mRNA: 6 — MANE Select: NM_001286657
NM_001286657, NM_001286660, NM_001286661, NM_001363176, NM_001363177, NM_152417
CCDS: CCDS6161, CCDS75740, CCDS75741, CCDS75742
Canonical transcript exons
ENST00000434581 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001118197 | 55763936 | 55763980 |
| ENSE00001118199 | 55762635 | 55763028 |
| ENSE00001599954 | 55745061 | 55745121 |
| ENSE00002097354 | 55773269 | 55773378 |
| ENSE00003552974 | 55756244 | 55756411 |
| ENSE00003628598 | 55738758 | 55740218 |
| ENSE00003655667 | 55750964 | 55751157 |
| ENSE00003786721 | 55743481 | 55743620 |
Expression profiles
Bgee: expression breadth ubiquitous, 239 present calls, max score 91.18.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.6292 / max 227.7270, expressed in 1774 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 93105 | 12.2038 | 1762 |
| 93106 | 1.0254 | 740 |
| 93103 | 0.2143 | 64 |
| 93107 | 0.1857 | 51 |
Top tissues by expression
251 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 91.18 | gold quality |
| bronchial epithelial cell | CL:0002328 | 90.80 | gold quality |
| bronchus | UBERON:0002185 | 89.56 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 89.07 | gold quality |
| islet of Langerhans | UBERON:0000006 | 89.04 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 88.60 | gold quality |
| calcaneal tendon | UBERON:0003701 | 88.41 | gold quality |
| ventricular zone | UBERON:0003053 | 88.25 | gold quality |
| ganglionic eminence | UBERON:0004023 | 88.23 | gold quality |
| oviduct epithelium | UBERON:0004804 | 86.57 | gold quality |
| rectum | UBERON:0001052 | 86.18 | gold quality |
| adrenal tissue | UBERON:0018303 | 85.97 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.52 | gold quality |
| cortical plate | UBERON:0005343 | 85.35 | gold quality |
| stromal cell of endometrium | CL:0002255 | 85.31 | gold quality |
| fallopian tube | UBERON:0003889 | 85.21 | gold quality |
| secondary oocyte | CL:0000655 | 84.87 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.41 | gold quality |
| pancreas | UBERON:0001264 | 83.62 | gold quality |
| skin of abdomen | UBERON:0001416 | 83.45 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 83.21 | gold quality |
| colonic epithelium | UBERON:0000397 | 82.81 | gold quality |
| right adrenal gland | UBERON:0001233 | 82.78 | gold quality |
| gall bladder | UBERON:0002110 | 82.63 | gold quality |
| left adrenal gland | UBERON:0001234 | 82.62 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 82.54 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 82.37 | gold quality |
| adrenal gland | UBERON:0002369 | 82.34 | gold quality |
| bone marrow cell | CL:0002092 | 82.33 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 82.12 | 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)
88 targeting TMEM68, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-659-3P | 99.85 | 70.69 | 1620 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
Literature-anchored findings (GeneRIF, showing 2)
- Transmembrane Protein 68 Functions as an MGAT and DGAT Enzyme for Triacylglycerol Biosynthesis. (PMID:36768334)
- Identification of an alternative triglyceride biosynthesis pathway. (PMID:37648867)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmem68 | ENSDARG00000086737 |
| mus_musculus | Tmem68 | ENSMUSG00000028232 |
| rattus_norvegicus | Tmem68 | ENSRNOG00000008872 |
| drosophila_melanogaster | CG34348 | FBGN0085377 |
| caenorhabditis_elegans | WBGENE00021394 |
Protein
Protein identifiers
DGAT1/2-independent enzyme synthesizing storage lipids — Q96MH6 (reviewed: Q96MH6)
Alternative names: 2-acylglycerol/1,2-diacylglycerol O-acyltransferase, Monoacylglycerol/Diacylglycerol O-acyltransferase, Transmembrane protein 68
All UniProt accessions (11): E5RGT2, E5RHI6, E5RHU1, E5RHZ2, E5RJ96, E5RJI9, E5RJN2, Q96MH6, H0YAX4, H0YAY9, H0YC64
UniProt curated annotations — full annotation on UniProt →
Function. Catalytic subunit of the alternative triglyceride biosynthesis pathway, which mediates formation of triacylglycerol from diacylglycerol and membrane phospholipids. Synthesizes triacylglycerol at the expense of membrane phospholipids, such as phosphatidylcholine (PC) and its ether-linked form (ePC), thereby altering the composition of membranes. The alternative triglyceride biosynthesis pathway is probably required to provide the energy required for rapid growth when fuel sources are limiting. It maintains mitochondrial function during periods of extracellular lipid starvation. Can also use acyl-CoA as donor: acts as a acyl-CoA:monoacylglycerol acyltransferase (MGAT), but also shows acyl-CoA:diacylglycerol acyltransferase (DGAT) activity.
Subcellular location. Endoplasmic reticulum membrane.
Activity regulation. Acyltransferase activity is specifically inhibited by TMX1 at the endoplasmic reticulum, restricting accumulation of triacylglycerol.
Similarity. Belongs to the diacylglycerol acyltransferase family. Highly divergent.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96MH6-1 | 1 | yes |
| Q96MH6-2 | 2 | |
| Q96MH6-3 | 3 |
RefSeq proteins (6): NP_001273586, NP_001273589, NP_001273590, NP_001350105, NP_001350106, NP_689630 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002123 | Plipid/glycerol_acylTrfase | Domain |
Pfam: PF01553
Catalyzed reactions (Rhea), 6 shown:
- an acyl-CoA + a 1,2-diacyl-sn-glycerol = a triacyl-sn-glycerol + CoA (RHEA:10868)
- a 2-acylglycerol + an acyl-CoA = a 1,2-diacylglycerol + CoA (RHEA:16741)
- 1,2-di-(9Z-octadecenoyl)-sn-glycerol + (9Z)-octadecenoyl-CoA = 1,2,3-tri-(9Z-octadecenoyl)-glycerol + CoA (RHEA:38219)
- 2-(9Z-octadecenoyl)-glycerol + (9Z)-octadecenoyl-CoA = 1,2-di-(9Z-octadecenoyl)-glycerol + CoA (RHEA:39951)
- a 1,2-diacylglycerol + a 1,2-diacyl-sn-glycero-3-phosphocholine = a triacylglycerol + a 1-acyl-sn-glycero-3-phosphocholine (RHEA:77743)
- a 1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + a 1,2-diacylglycerol = a 1-O-alkyl-sn-glycero-3-phosphocholine + a triacylglycerol (RHEA:77759)
UniProt features (12 total): topological domain 3, splice variant 3, transmembrane region 2, chain 1, mutagenesis site 1, active site 1, glycosylation site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96MH6-F1 | 88.03 | 0.61 |
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): 130
Glycosylation sites (1): 5
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 130 | abolished acyltransferase activity. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 152 (showing top):
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, BURTON_ADIPOGENESIS_12, AP2_Q6_01, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, SCGGAAGY_ELK1_02, GOCC_ORGANELLE_SUBCOMPARTMENT, GOMF_ACYLGLYCEROL_O_ACYLTRANSFERASE_ACTIVITY, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_O_ACYLTRANSFERASE_ACTIVITY, VECCHI_GASTRIC_CANCER_EARLY_UP
GO Biological Process (2): triglyceride biosynthetic process (GO:0019432), lipid metabolic process (GO:0006629)
GO Molecular Function (5): 2-acylglycerol O-acyltransferase activity (GO:0003846), diacylglycerol O-acyltransferase activity (GO:0004144), phospholipid:diacylglycerol acyltransferase activity (GO:0046027), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)
GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), endoplasmic reticulum (GO:0005783)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| acylglycerol O-acyltransferase activity | 2 |
| triglyceride metabolic process | 1 |
| acylglycerol biosynthetic process | 1 |
| primary metabolic process | 1 |
| acyltransferase activity, transferring groups other than amino-acyl groups | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1366 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMEM68 | XKR4 | Q5GH76 | 790 |
| TMEM68 | CHCHD7 | Q9BUK0 | 686 |
| TMEM68 | SDR16C5 | Q8N3Y7 | 662 |
| TMEM68 | FAM110B | Q8TC76 | 619 |
| TMEM68 | PLAG1 | Q6DJT9 | 593 |
| TMEM68 | SMIM17 | P0DL12 | 558 |
| TMEM68 | RPUSD4 | Q96CM3 | 474 |
| TMEM68 | RPS20 | P17075 | 474 |
| TMEM68 | LYPLA1 | O75608 | 473 |
| TMEM68 | KCNJ14 | Q9UNX9 | 472 |
| TMEM68 | NUDCD3 | Q8IVD9 | 453 |
| TMEM68 | BPNT2 | Q9NX62 | 425 |
| TMEM68 | TPM3 | P06753 | 424 |
| TMEM68 | KLHL38 | Q2WGJ6 | 414 |
| TMEM68 | SLC68A1 | Q14CX5 | 390 |
IntAct
42 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| C3AR1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| ADGRG5 | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRF4 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| LYPD6 | PLXNB2 | psi-mi:“MI:0914”(association) | 0.530 |
| REEP5 | SCAMP1 | psi-mi:“MI:0914”(association) | 0.530 |
| CD63 | LGALS8 | psi-mi:“MI:0914”(association) | 0.530 |
| REEP5 | PLSCR1 | psi-mi:“MI:0914”(association) | 0.530 |
| CLEC2D | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| PACC1 | DEGS1 | psi-mi:“MI:0914”(association) | 0.350 |
| RTN4 | SCAMP1 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM223 | psi-mi:“MI:0914”(association) | 0.350 | |
| IGHM | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| TTMP | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| TTYH1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN15 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| CMTM5 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| TNFSF18 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| CD53 | RAP1BL | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM169 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| GCGR | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| OR6T1 | PSMD11 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN8 | TP53I11 | psi-mi:“MI:0914”(association) | 0.350 |
| PACC1 | TNPO2 | psi-mi:“MI:0914”(association) | 0.350 |
| OR2M7 | MARCHF6 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM154 | VPS26A | psi-mi:“MI:0914”(association) | 0.350 |
| FUNDC2 | ALDH1A1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (51): TMEM68 (Affinity Capture-MS), TMEM68 (Affinity Capture-MS), TMEM68 (Affinity Capture-MS), TMEM68 (Affinity Capture-MS), TMEM68 (Affinity Capture-MS), TMEM68 (Affinity Capture-MS), TMEM68 (Affinity Capture-MS), TMEM68 (Affinity Capture-MS), TMEM68 (Affinity Capture-MS), TMEM68 (Affinity Capture-MS), TMEM68 (Proximity Label-MS), TMEM68 (Negative Genetic), TMEM68 (Affinity Capture-MS), TMEM68 (Affinity Capture-MS), TMEM68 (Affinity Capture-MS)
ESM2 similar proteins: A0A0M4FCN7, A7M6E7, A7M6E8, B4G0F3, B8BKI7, C6JS30, E0CTF3, F4JJJ3, K7K424, K7PEY4, O23617, O48780, O80437, O80738, Q0VCR6, Q0WUI9, Q1LWG4, Q2R483, Q4V9F0, Q5FVP8, Q5XF03, Q5ZJD8, Q6P342, Q6PAZ3, Q70VZ8, Q7L5N7, Q8BYI6, Q8K3K7, Q8L7M0, Q8S8S2, Q94A08, Q94AH8, Q96MH6, Q96PD7, Q9ASU1, Q9C6L5, Q9CAY3, Q9D1E8, Q9D850, Q9DCV3
Diamond homologs: Q0VCR6, Q5ZJD8, Q96MH6, Q9D850
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
39 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 29 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1154 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:55740216:CGT:C | acceptor_gain | 1.0000 |
| 8:55740219:C:CC | acceptor_gain | 1.0000 |
| 8:55743476:TTTA:T | donor_loss | 1.0000 |
| 8:55743477:TTA:T | donor_loss | 1.0000 |
| 8:55743478:TAC:T | donor_loss | 1.0000 |
| 8:55743479:A:T | donor_loss | 1.0000 |
| 8:55743616:TAACC:T | acceptor_gain | 1.0000 |
| 8:55745059:A:AC | donor_gain | 1.0000 |
| 8:55745060:C:CC | donor_gain | 1.0000 |
| 8:55745118:TGGG:T | acceptor_gain | 1.0000 |
| 8:55745122:C:CC | acceptor_gain | 1.0000 |
| 8:55750957:AACTC:A | donor_loss | 1.0000 |
| 8:55750958:ACT:A | donor_loss | 1.0000 |
| 8:55750959:CTCAC:C | donor_loss | 1.0000 |
| 8:55750960:TCA:T | donor_loss | 1.0000 |
| 8:55750961:CAC:C | donor_loss | 1.0000 |
| 8:55750963:C:CG | donor_loss | 1.0000 |
| 8:55750963:CCA:C | donor_gain | 1.0000 |
| 8:55751156:CC:C | acceptor_gain | 1.0000 |
| 8:55751157:CC:C | acceptor_gain | 1.0000 |
| 8:55740218:TC:T | acceptor_loss | 0.9900 |
| 8:55740219:C:CG | acceptor_loss | 0.9900 |
| 8:55740220:T:A | acceptor_loss | 0.9900 |
| 8:55740222:T:TC | acceptor_gain | 0.9900 |
| 8:55743479:A:AC | donor_gain | 0.9900 |
| 8:55743480:C:CC | donor_gain | 0.9900 |
| 8:55743617:AACC:A | acceptor_gain | 0.9900 |
| 8:55743618:ACC:A | acceptor_gain | 0.9900 |
| 8:55743619:CC:C | acceptor_gain | 0.9900 |
| 8:55743619:CCC:C | acceptor_gain | 0.9900 |
AlphaMissense
2130 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:55743566:C:T | G268E | 0.999 |
| 8:55745104:A:C | F235L | 0.999 |
| 8:55745104:A:T | F235L | 0.999 |
| 8:55745106:A:G | F235L | 0.999 |
| 8:55750991:A:C | F220L | 0.999 |
| 8:55750991:A:T | F220L | 0.999 |
| 8:55750993:A:G | F220L | 0.999 |
| 8:55762662:A:G | W100R | 0.999 |
| 8:55762662:A:T | W100R | 0.999 |
| 8:55745096:T:A | N238I | 0.998 |
| 8:55750980:G:T | A224E | 0.998 |
| 8:55750989:G:T | A221D | 0.998 |
| 8:55751009:C:A | W214C | 0.998 |
| 8:55751009:C:G | W214C | 0.998 |
| 8:55751011:A:G | W214R | 0.998 |
| 8:55751011:A:T | W214R | 0.998 |
| 8:55751044:C:G | A203P | 0.998 |
| 8:55751058:C:T | G198D | 0.998 |
| 8:55751061:G:T | P197Q | 0.998 |
| 8:55751091:A:G | L187P | 0.998 |
| 8:55756267:T:A | D157V | 0.998 |
| 8:55756330:T:A | D136V | 0.998 |
| 8:55756345:C:T | G131E | 0.998 |
| 8:55762641:A:G | W107R | 0.998 |
| 8:55762641:A:T | W107R | 0.998 |
| 8:55762671:C:G | A97P | 0.998 |
| 8:55745095:A:C | N238K | 0.997 |
| 8:55745095:A:T | N238K | 0.997 |
| 8:55750972:C:G | A227P | 0.997 |
| 8:55750992:A:G | F220S | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000108739 (8:55743947 C>A,T), RS1000156856 (8:55774536 T>A), RS1000233448 (8:55755701 A>G), RS1000282849 (8:55756979 T>C), RS1000608617 (8:55753801 T>A), RS1000667405 (8:55755470 C>G,T), RS1000691141 (8:55763028 A>G), RS1000703839 (8:55762535 T>C), RS1000884636 (8:55755500 G>A), RS1000884883 (8:55767582 A>G), RS1000974180 (8:55754137 T>C), RS1000990714 (8:55769956 C>A,T), RS1000998422 (8:55760489 T>A,C), RS1001126636 (8:55742179 T>C), RS1001187137 (8:55751446 A>C,T)
Disease associations
OMIM: gene `` | 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 |
|---|---|---|
| GCST002458_1 | Serum thyroid-stimulating hormone levels | 2.000000e-10 |
| GCST004136_29 | Methadone dose in opioid dependence | 6.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007907 | methadone dose measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 5 |
| Benzo(a)pyrene | increases expression, increases mutagenesis | 3 |
| sodium arsenite | increases expression, affects cotreatment, increases abundance | 2 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Aflatoxin B1 | increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| jinfukang | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Amiodarone | increases expression | 1 |
| Arsenic | increases abundance, increases expression, affects cotreatment | 1 |
| Cisplatin | increases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Quercetin | increases expression | 1 |
| Testosterone | decreases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases 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.