TMEM18
geneOn this page
Also known as DKFZp434C1714lncND
Summary
TMEM18 (transmembrane protein 18, HGNC:25257) is a protein-coding gene on chromosome 2p25.3, encoding Transmembrane protein 18 (Q96B42). Transcription repressor.
Predicted to enable DNA binding activity. Involved in cell migration. Located in nuclear membrane.
Source: NCBI Gene 129787 — RefSeq curated summary.
At a glance
- GWAS associations: 133
- Clinical variants (ClinVar): 24 total
- MANE Select transcript:
NM_152834
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25257 |
| Approved symbol | TMEM18 |
| Name | transmembrane protein 18 |
| Location | 2p25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp434C1714, lncND |
| Ensembl gene | ENSG00000151353 |
| Ensembl biotype | protein_coding |
| OMIM | 613220 |
| Entrez | 129787 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 8 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000281017, ENST00000355654, ENST00000405941, ENST00000418447, ENST00000432667, ENST00000461640, ENST00000477202, ENST00000497508, ENST00000718109, ENST00000896867, ENST00000896868, ENST00000896869, ENST00000896870, ENST00000933737
RefSeq mRNA: 3 — MANE Select: NM_152834
NM_001352680, NM_001352681, NM_152834
CCDS: CCDS33141, CCDS86815, CCDS86816
Canonical transcript exons
ENST00000281017 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001147514 | 663877 | 669675 |
| ENSE00001647029 | 677289 | 677406 |
| ENSE00003645492 | 669757 | 669850 |
| ENSE00003651190 | 675510 | 675630 |
| ENSE00003656826 | 672808 | 672862 |
Expression profiles
Bgee: expression breadth ubiquitous, 259 present calls, max score 95.83.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.7978 / max 124.8777, expressed in 1805 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 26637 | 20.9733 | 1804 |
| 26638 | 0.8244 | 543 |
Top tissues by expression
260 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 95.83 | gold quality |
| kidney epithelium | UBERON:0004819 | 94.98 | silver quality |
| sural nerve | UBERON:0015488 | 94.63 | gold quality |
| endothelial cell | CL:0000115 | 93.75 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 93.06 | gold quality |
| tendon | UBERON:0000043 | 93.05 | gold quality |
| left ovary | UBERON:0002119 | 93.00 | gold quality |
| ovary | UBERON:0000992 | 92.24 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 91.84 | gold quality |
| right ovary | UBERON:0002118 | 91.73 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 91.61 | gold quality |
| parietal pleura | UBERON:0002400 | 91.57 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.55 | gold quality |
| body of pancreas | UBERON:0001150 | 91.23 | gold quality |
| body of uterus | UBERON:0009853 | 91.22 | gold quality |
| tibialis anterior | UBERON:0001385 | 91.19 | silver quality |
| pigmented layer of retina | UBERON:0001782 | 90.89 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 90.88 | gold quality |
| retina | UBERON:0000966 | 90.87 | gold quality |
| eye | UBERON:0000970 | 90.87 | gold quality |
| deltoid | UBERON:0001476 | 90.86 | gold quality |
| gingival epithelium | UBERON:0001949 | 90.76 | gold quality |
| tibial artery | UBERON:0007610 | 90.43 | gold quality |
| popliteal artery | UBERON:0002250 | 90.42 | gold quality |
| right adrenal gland | UBERON:0001233 | 90.32 | gold quality |
| left adrenal gland | UBERON:0001234 | 90.32 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 90.31 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 90.21 | gold quality |
| metanephros | UBERON:0000081 | 89.98 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 89.90 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.10 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
53 targeting TMEM18, 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-3134 | 100.00 | 66.43 | 777 |
| 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-4697-3P | 99.89 | 67.09 | 1123 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
| HSA-MIR-6745 | 99.74 | 65.33 | 1321 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
| HSA-MIR-5006-3P | 99.71 | 70.26 | 2728 |
| HSA-MIR-518A-5P | 99.70 | 69.01 | 2209 |
| HSA-MIR-527 | 99.70 | 69.01 | 2209 |
| HSA-MIR-6892-3P | 99.68 | 66.40 | 1178 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-6715B-5P | 99.64 | 69.63 | 1420 |
| HSA-MIR-4743-3P | 99.62 | 68.12 | 2095 |
| HSA-MIR-4276 | 99.56 | 67.66 | 2514 |
| HSA-MIR-4269 | 99.55 | 69.89 | 1373 |
| HSA-MIR-302A-5P | 99.39 | 68.21 | 1913 |
| HSA-MIR-584-3P | 99.35 | 67.69 | 1082 |
| HSA-MIR-4652-3P | 99.33 | 70.02 | 2742 |
Literature-anchored findings (GeneRIF, showing 29)
- Overexpression of TMEM18 is associated with glioma (PMID:18559506)
- Data show that SNPs in SEC16B and TMEM18 were significantly associated with obesity, and the SNPs in GNPDA2, BDNF, FAIM2 and MC4R were marginally associated with obesity in Japanese. (PMID:19851340)
- The risk allele TMEM18 rs6548238 was associated with bodym mass index, higher waist circumference and total body fat. (PMID:19910938)
- TMEM18 is involved in both adult and childhood obesity and found in the majority of all brain sites, including the hypothalamus and the brain stem. (PMID:20380707)
- The polymorphisms rs6548238 and rs9935401 showed no association with educational level or income. (PMID:20628085)
- Our data suggest that SNPs in or near the TMEM18 locus contribute to obesity risk in the Greek population. (PMID:21720444)
- Meta-analysis of 4992 subjects revealed seven SNPs near four loci, including NEGR1, TMEM18, SH2B1 /ATP2A1 and MC4R, showing significant association at 0.005 (PMID:21750520)
- We observed a strong positive correlation between TMEM18 expression and body weight in the prefrontal cortex (PFC) (r = 0.5694, P = 0.0003) indicating a potential role for TMEM18 in higher functions related to feeding involving the PFC. (PMID:21952719)
- TMEM18 localises to the nuclear membrane and binds to DNA in a sequence-specific manner: perhaps this closed perinuclear localisation of TMEM18-bound DNA might repress transcription from it. (PMID:21980424)
- Variants of TMEM18 and FTO are associated with obesity indices during puberty in Chinese children. (PMID:22083549)
- By age 7, common variations in FTO, TMEM18 and NRXN3 influence the vulnerability to metabolic complications of sleep deprivation. (PMID:22391885)
- TMEM18rs6548238 associated with risk of diabetes after adjustment for body mass index. (PMID:22466342)
- Results imply a regulatory role for TMEM18, BDNF, MTCH2 and NEGR1 in adipocyte differentiation and biology. In addition, we show a variation of MAF expression during adipogenesis, while NPC1, PTER and SH2B1 were not regulated. (PMID:23229156)
- In summary, moderately rare missense variants within the…TMEM18 genes observed in our study did not confer risk of common childhood obesity in African Americans… (PMID:23505181)
- results add to the evidence that BMI related variants in and near FTO and TMEM18 may increase the risk for T2D not only through secondary effects of obesity (PMID:23860325)
- TMEM18 mRNA expression levels are related to phenotypes of obesity and glucose metabolism. (PMID:24763707)
- rs186019316 and rs7596758 in TMEM18 is associated with body mass index. (PMID:24951660)
- FTO-rs9939609, TMEM18-rs6548238 and PCSK1-rs6234 polymorphisms are significantly associated with body mass index in a southern Chinese population. (PMID:25189249)
- Genetic variants associated with BMI and WHR in adults influence growth patterns and general and abdominal fat development from early childhood onwards. (PMID:25640768)
- Studies indicate association of transmembrane protein 18 (TMEM18) variants within the proximal haplotype block with obesity and body mass. (PMID:26365393)
- Significant associations were identified at 3.5 years old for TMEM18 rs6548238, NEGR1 rs2815752, BDNF rs10767664 and rs6265 (1 year old and 3.5 years old) with anthropometric phenotypes (PMID:27005443)
- TMEM18 gene is a potential biomarker for Acute Myeloid Leukemia (PMID:30199869)
- results suggest that FTO alpha-ketoglutarate dependent dioxygenase, transmembrane protein 18, and fibronectin type III domain containing 5 genetic variants contribute to obesity susceptibility in children and adolescents (PMID:30311592)
- Decreased body weight in overweight/obese children is not significantly influenced by the NYD-SP18 rs6971091 or TMEM18 rs4854344 polymorphisms. (PMID:30341978)
- Genetic variants in long-noncoding RNA AC092159.2 may contribute to gestational diabetes mellitus in a Chinese population by affecting TMEM18 expression. (PMID:31361511)
- Association of the Variant rs7561317 Downstream of the TMEM18 Gene with Overweight/Obesity and Related Anthropometric Traits in a Sample of Pakistani Population. (PMID:31628562)
- Loci near TMEM18 (rs6548238), CDKAL1 (rs7754840), and FAIM2 (rs7138803) may be associated with obesity-related indicators, and loci near TMEM18 (rs6548238) and FAIM2 (rs7138803) may increase susceptibility of concurrent type 2 diabetes associated with obesity. (PMID:32228543)
- The Obesity-Susceptibility Gene TMEM18 Promotes Adipogenesis through Activation of PPARG. (PMID:33086065)
- Drinking Habits and Physical Activity Interact and Attenuate Obesity Predisposition of TMEM18 Polymorphisms Carriers. (PMID:36678137)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmem18 | ENSDARG00000036704 |
| mus_musculus | Tmem18 | ENSMUSG00000043061 |
| rattus_norvegicus | Tmem18 | ENSRNOG00000005144 |
| drosophila_melanogaster | Tmem18 | FBGN0050051 |
Protein
Protein identifiers
Transmembrane protein 18 — Q96B42 (reviewed: Q96B42)
All UniProt accessions (4): B5MBX8, F8WBA6, F8WEA7, Q96B42
UniProt curated annotations — full annotation on UniProt →
Function. Transcription repressor. Sequence-specific ssDNA and dsDNA binding protein, with preference for GCT end CTG repeats. Cell migration modulator which enhances the glioma-specific migration ability of neural stem cells (NSC) and neural precursor cells (NPC).
Subunit / interactions. Forms homooligomers, independently of the DNA-binding domain.
Subcellular location. Cytoplasm. Nucleus membrane.
Similarity. Belongs to the TMEM18 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96B42-1 | 1 | yes |
| Q96B42-2 | 2 |
RefSeq proteins (3): NP_001339609, NP_001339610, NP_690047* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026721 | TMEM18 | Family |
Pfam: PF14770
UniProt features (12 total): topological domain 4, transmembrane region 3, chain 1, short sequence motif 1, splice variant 1, region of interest 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96B42-F1 | 89.83 | 0.73 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 112 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, chr2p25, GOBP_BEHAVIOR, GOBP_EATING_BEHAVIOR, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, GOBP_ENERGY_HOMEOSTASIS, FISCHER_DREAM_TARGETS, GOCC_NUCLEAR_ENVELOPE, GOBP_HOMEOSTATIC_PROCESS, GOBP_FEEDING_BEHAVIOR, GOCC_NUCLEAR_MEMBRANE, TOYOTA_TARGETS_OF_MIR34B_AND_MIR34C, GOCC_ORGANELLE_ENVELOPE, NFE2L2.V2
GO Biological Process (3): cell migration (GO:0016477), eating behavior (GO:0042755), energy homeostasis (GO:0097009)
GO Molecular Function (2): DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (4): cytoplasm (GO:0005737), nuclear membrane (GO:0031965), nucleus (GO:0005634), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cell motility | 1 |
| feeding behavior | 1 |
| multicellular organismal-level homeostasis | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| nucleus | 1 |
| nuclear envelope | 1 |
| organelle membrane | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
652 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMEM18 | GNPDA2 | Q8TDQ7 | 956 |
| TMEM18 | KCTD15 | Q96SI1 | 956 |
| TMEM18 | NEGR1 | Q7Z3B1 | 932 |
| TMEM18 | MC4R | P32245 | 928 |
| TMEM18 | MTCH2 | Q9Y6C9 | 906 |
| TMEM18 | FTO | Q9C0B1 | 905 |
| TMEM18 | SH2B1 | Q9NRF2 | 904 |
| TMEM18 | SEC16B | Q96JE7 | 871 |
| TMEM18 | FAIM2 | Q9BWQ8 | 719 |
| TMEM18 | V9GXZ4 | V9GXZ4 | 665 |
| TMEM18 | TNNI3K | Q59H18 | 660 |
| TMEM18 | TFAP2B | Q92481 | 657 |
| TMEM18 | ETV5 | P41161 | 624 |
| TMEM18 | PTER | Q96BW5 | 616 |
| TMEM18 | DNAJC27 | Q9NZQ0 | 601 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CHRND | TPST2 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM18 | TM9SF2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HPN | TOR1A | psi-mi:“MI:0914”(association) | 0.350 |
| IFNLR1 | AURKA | psi-mi:“MI:0914”(association) | 0.350 |
| CHST5 | SETD1A | psi-mi:“MI:0914”(association) | 0.350 |
| KLRC3 | RNF13 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM18 | GALT | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (14): TMEM18 (Two-hybrid), REEP4 (Two-hybrid), TMEM18 (Affinity Capture-MS), TPK1 (Affinity Capture-MS), TMEM18 (Affinity Capture-MS), TMEM18 (Affinity Capture-MS), GALT (Affinity Capture-MS), MMAB (Affinity Capture-MS), TMEM18 (Affinity Capture-MS), TMEM18 (Affinity Capture-MS), RBM38 (Affinity Capture-MS), TM9SF2 (Affinity Capture-MS), TMEM18 (Affinity Capture-MS), TMEM18 (Affinity Capture-RNA)
ESM2 similar proteins: A0A067DFU5, A0A067E3D8, A0A1E1FFM9, A0A1Y0BRF5, A0A9Y1LNE1, A0A9Y1LQX3, A2AJQ3, A2ARJ3, A9RA88, B6HV37, B6JWP7, F4HW17, O48962, O59802, O64761, O74870, O94673, P0DXH1, P25338, P38312, P47111, P70245, Q06537, Q0V982, Q10255, Q12155, Q28GF5, Q3TUD9, Q4V7N7, Q54VP1, Q55E32, Q5F3W2, Q5F410, Q5R687, Q5R8N9, Q5U3Y7, Q60490, Q641M3, Q66HF2, Q6DCP8
Diamond homologs: Q28GF5, Q3SZ36, Q3TUD9, Q4V7N7, Q5F410, Q641M3, Q6DGF8, Q96B42
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
24 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 15 |
| Likely benign | 4 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
821 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:672860:TGA:T | acceptor_gain | 1.0000 |
| 2:672863:C:CC | acceptor_gain | 1.0000 |
| 2:675628:CTG:C | acceptor_gain | 1.0000 |
| 2:675631:C:CC | acceptor_gain | 1.0000 |
| 2:669755:A:AC | donor_gain | 0.9900 |
| 2:669756:C:CC | donor_gain | 0.9900 |
| 2:669756:CCA:C | donor_gain | 0.9900 |
| 2:669847:TAAT:T | acceptor_gain | 0.9900 |
| 2:669849:ATCT:A | acceptor_loss | 0.9900 |
| 2:669850:TCTG:T | acceptor_loss | 0.9900 |
| 2:669851:C:CC | acceptor_gain | 0.9900 |
| 2:669852:T:C | acceptor_loss | 0.9900 |
| 2:672858:GATGA:G | acceptor_gain | 0.9900 |
| 2:672859:ATGA:A | acceptor_gain | 0.9900 |
| 2:672861:GA:G | acceptor_gain | 0.9900 |
| 2:675504:ACTC:A | donor_loss | 0.9900 |
| 2:675505:CTCA:C | donor_loss | 0.9900 |
| 2:675506:TCA:T | donor_loss | 0.9900 |
| 2:675507:CA:C | donor_loss | 0.9900 |
| 2:675508:A:AC | donor_gain | 0.9900 |
| 2:675509:C:CC | donor_gain | 0.9900 |
| 2:675627:TCTGC:T | acceptor_loss | 0.9900 |
| 2:675628:CTGCT:C | acceptor_loss | 0.9900 |
| 2:675629:TG:T | acceptor_gain | 0.9900 |
| 2:675629:TGCT:T | acceptor_loss | 0.9900 |
| 2:675630:GCTG:G | acceptor_loss | 0.9900 |
| 2:675631:CT:C | acceptor_loss | 0.9900 |
| 2:675632:T:G | acceptor_loss | 0.9900 |
| 2:669677:T:G | acceptor_loss | 0.9800 |
| 2:669855:T:TC | acceptor_gain | 0.9800 |
AlphaMissense
919 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:669826:G:C | F86L | 0.998 |
| 2:669826:G:T | F86L | 0.998 |
| 2:669828:A:G | F86L | 0.998 |
| 2:669808:G:C | F92L | 0.996 |
| 2:669808:G:T | F92L | 0.996 |
| 2:669810:A:G | F92L | 0.996 |
| 2:672823:G:T | A73D | 0.996 |
| 2:669827:A:C | F86C | 0.993 |
| 2:672831:A:C | N70K | 0.993 |
| 2:672831:A:T | N70K | 0.993 |
| 2:669809:A:G | F92S | 0.992 |
| 2:669816:C:G | G90R | 0.992 |
| 2:669816:C:T | G90R | 0.992 |
| 2:669827:A:G | F86S | 0.992 |
| 2:669828:A:T | F86I | 0.992 |
| 2:672832:T:A | N70I | 0.992 |
| 2:669669:A:G | W112R | 0.991 |
| 2:669669:A:T | W112R | 0.991 |
| 2:669815:C:T | G90E | 0.991 |
| 2:669831:A:G | Y85H | 0.991 |
| 2:672824:C:G | A73P | 0.991 |
| 2:669815:C:A | G90V | 0.990 |
| 2:669809:A:C | F92C | 0.989 |
| 2:675609:A:G | W27R | 0.989 |
| 2:675609:A:T | W27R | 0.989 |
| 2:669824:T:A | D87V | 0.988 |
| 2:669816:C:A | G90W | 0.987 |
| 2:669828:A:C | F86V | 0.987 |
| 2:669785:G:C | P100R | 0.986 |
| 2:669785:G:T | P100Q | 0.986 |
dbSNP variants (sampled 300 via entrez): RS1000001533 (2:666297 G>A), RS1000022969 (2:675482 G>T), RS1000150745 (2:673558 G>A), RS1000215867 (2:675811 G>A,C,T), RS1000305451 (2:668056 G>A,C,T), RS1000654482 (2:679344 T>C), RS1000769716 (2:674489 G>A,C,T), RS1001039928 (2:669524 C>A,G,T), RS1001125097 (2:663966 G>A,C), RS1001208871 (2:675133 T>C), RS1001418750 (2:672261 G>A), RS1001453257 (2:664912 G>C), RS1001680066 (2:666911 G>A), RS1001692029 (2:666662 G>A), RS1002317958 (2:677122 G>A)
Disease associations
OMIM: gene MIM:613220 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
133 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000296_8 | Body mass index | 4.000000e-17 |
| GCST000298_1 | Body mass index | 1.000000e-18 |
| GCST000299_17 | Weight | 2.000000e-18 |
| GCST000663_4 | Obesity (early onset extreme) | 2.000000e-07 |
| GCST000830_10 | Body mass index | 3.000000e-49 |
| GCST000880_5 | Menarche (age at onset) | 2.000000e-08 |
| GCST001374_3 | Uric acid levels | 2.000000e-06 |
| GCST001738_9 | Response to fenofibrate (adiponectin levels) | 3.000000e-06 |
| GCST001762_209 | Obesity-related traits | 8.000000e-06 |
| GCST001953_18 | Obesity | 6.000000e-24 |
| GCST001953_44 | Obesity | 3.000000e-40 |
| GCST001953_65 | Obesity | 6.000000e-35 |
| GCST001955_3 | Body mass index | 6.000000e-15 |
| GCST001957_2 | Obesity (early onset extreme) | 2.000000e-13 |
| GCST002021_1 | Body mass index | 3.000000e-17 |
| GCST002227_3 | Body mass index | 1.000000e-07 |
| GCST002349_2 | Response to protease inhibitor treatment in hepatitis c (peak serum total bilirubin levels) | 1.000000e-06 |
| GCST002352_48 | Type 2 diabetes | 2.000000e-07 |
| GCST002461_24 | Body mass index | 2.000000e-12 |
| GCST002541_36 | Menarche (age at onset) | 2.000000e-19 |
| GCST002579_24 | Heschl’s gyrus morphology | 2.000000e-06 |
| GCST002783_23 | Body mass index | 7.000000e-40 |
| GCST002783_373 | Body mass index | 5.000000e-54 |
| GCST002783_506 | Body mass index | 1.000000e-50 |
| GCST002783_98 | Body mass index | 4.000000e-22 |
| GCST003177_27 | Childhood body mass index | 5.000000e-22 |
| GCST003435_23 | Body fat percentage | 6.000000e-08 |
| GCST003435_28 | Body fat percentage | 1.000000e-10 |
| GCST003435_42 | Body fat percentage | 3.000000e-08 |
| GCST003435_45 | Body fat percentage | 3.000000e-09 |
EFO canonical traits (24, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0004338 | body weight |
| EFO:0004703 | age at menarche |
| EFO:0004761 | uric acid measurement |
| EFO:0005116 | urinary metabolite measurement |
| EFO:0004570 | bilirubin measurement |
| EFO:0005657 | response to protease inhibitor |
| EFO:0007800 | body fat percentage |
| EFO:0004318 | smoking behavior |
| EFO:0008002 | physical activity measurement |
| EFO:0006941 | grip strength measurement |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0009270 | heel bone mineral density |
| EFO:0004847 | age at onset |
| EFO:0007041 | obese body mass index status |
| EFO:0005670 | smoking initiation |
| EFO:0004458 | C-reactive protein measurement |
| EFO:0006781 | coffee consumption measurement |
| EFO:0004531 | urate measurement |
| EFO:0000195 | metabolic syndrome |
| EFO:0007796 | parental longevity |
| EFO:0009819 | comparative body size at age 10, self-reported |
| EFO:0009749 | age at first sexual intercourse measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, affects expression, affects cotreatment | 8 |
| Panobinostat | affects cotreatment, decreases expression | 2 |
| Phenylmercuric Acetate | decreases expression, affects cotreatment | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Cyclosporine | increases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | affects expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| butyraldehyde | decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Decitabine | decreases expression, affects reaction | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Carbamazepine | affects expression | 1 |
| Ketoconazole | decreases expression | 1 |
| Ozone | increases abundance, affects expression | 1 |
| Pantothenic Acid | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Tunicamycin | increases expression | 1 |
| Acrylamide | decreases expression | 1 |
| Vitamin K 3 | affects expression | 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): hepatitis C virus infection