TMX3
gene geneOn this page
Also known as FLJ20793KIAA1830PDIA13
Summary
TMX3 (thioredoxin related transmembrane protein 3, HGNC:24718) is a protein-coding gene on chromosome 18q22.1, encoding Protein disulfide-isomerase TMX3 (Q96JJ7). Probable disulfide isomerase, which participates in the folding of proteins containing disulfide bonds.
This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The canonical protein encoded by this gene has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This gene is expressed in many tissues but has its highest expression in heart and skeletal muscle. It is expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye and haploinsufficiency of this gene in humans and zebrafish is associated with microphthalmia. Alternative splicing results in multiple transcript variants encoding distinct isoforms.
Source: NCBI Gene 54495 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 113 total
- MANE Select transcript:
NM_019022
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24718 |
| Approved symbol | TMX3 |
| Name | thioredoxin related transmembrane protein 3 |
| Location | 18q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20793, KIAA1830, PDIA13 |
| Ensembl gene | ENSG00000166479 |
| Ensembl biotype | protein_coding |
| OMIM | 616102 |
| Entrez | 54495 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 9 protein_coding, 5 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined, 3 retained_intron
ENST00000299608, ENST00000443099, ENST00000544714, ENST00000562706, ENST00000564008, ENST00000564631, ENST00000565918, ENST00000566135, ENST00000566887, ENST00000569053, ENST00000569982, ENST00000578765, ENST00000578816, ENST00000580785, ENST00000903506, ENST00000903507, ENST00000915516, ENST00000915517, ENST00000961335, ENST00000961336
RefSeq mRNA: 7 — MANE Select: NM_019022
NM_001350512, NM_001350513, NM_001350514, NM_001350515, NM_001350516, NM_001350517, NM_019022
CCDS: CCDS32840, CCDS86679, CCDS86680
Canonical transcript exons
ENST00000299608 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001103356 | 68711364 | 68711403 |
| ENSE00001103392 | 68710021 | 68710144 |
| ENSE00001289718 | 68673688 | 68677193 |
| ENSE00002613683 | 68714936 | 68715108 |
| ENSE00003502953 | 68682925 | 68682981 |
| ENSE00003512848 | 68679463 | 68679531 |
| ENSE00003526142 | 68680981 | 68681110 |
| ENSE00003537138 | 68687667 | 68687765 |
| ENSE00003550256 | 68701745 | 68701790 |
| ENSE00003577117 | 68700405 | 68700485 |
| ENSE00003595378 | 68713846 | 68713900 |
| ENSE00003603731 | 68684428 | 68684485 |
| ENSE00003607676 | 68697226 | 68697303 |
| ENSE00003620717 | 68684190 | 68684243 |
| ENSE00003667897 | 68697932 | 68698031 |
| ENSE00003686628 | 68691295 | 68691361 |
Expression profiles
Bgee: expression breadth ubiquitous, 262 present calls, max score 98.22.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.2893 / max 358.8404, expressed in 1808 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 172320 | 25.9067 | 1803 |
| 172319 | 4.3296 | 1470 |
| 172318 | 0.0529 | 16 |
Top tissues by expression
262 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 98.22 | gold quality |
| endothelial cell | CL:0000115 | 96.79 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.24 | gold quality |
| stromal cell of endometrium | CL:0002255 | 96.06 | gold quality |
| decidua | UBERON:0002450 | 95.88 | gold quality |
| oviduct epithelium | UBERON:0004804 | 95.88 | gold quality |
| vermiform appendix | UBERON:0001154 | 95.72 | gold quality |
| visceral pleura | UBERON:0002401 | 95.61 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 95.30 | silver quality |
| parietal pleura | UBERON:0002400 | 95.06 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 95.05 | gold quality |
| secondary oocyte | CL:0000655 | 94.72 | gold quality |
| tibia | UBERON:0000979 | 94.57 | gold quality |
| monocyte | CL:0000576 | 94.53 | gold quality |
| rectum | UBERON:0001052 | 94.31 | gold quality |
| lymph node | UBERON:0000029 | 94.30 | gold quality |
| tendon | UBERON:0000043 | 94.12 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 94.05 | gold quality |
| leukocyte | CL:0000738 | 94.03 | gold quality |
| right uterine tube | UBERON:0001302 | 94.03 | gold quality |
| oocyte | CL:0000023 | 93.78 | gold quality |
| caecum | UBERON:0001153 | 93.67 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 93.64 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 93.57 | gold quality |
| adrenal tissue | UBERON:0018303 | 93.38 | gold quality |
| endometrium | UBERON:0001295 | 93.36 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 93.17 | gold quality |
| nerve | UBERON:0001021 | 93.15 | gold quality |
| tibial nerve | UBERON:0001323 | 93.15 | gold quality |
| gall bladder | UBERON:0002110 | 92.94 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.44 |
| E-MTAB-2983 | no | 733.19 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
187 targeting TMX3, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
Literature-anchored findings (GeneRIF, showing 4)
- TMX3 is a thioredoxin-related transmembrane protein of the endoplasmic reticulum (PMID:15623505)
- analysis of TMX3 interdomain stabilization of the N-terminal redox-active domain (PMID:17881353)
- Haploinsufficiency for TMX3 results in a small eye phenotype and represents a novel genetic cause of microphthalmia and coloboma. (PMID:20485507)
- Data show that TMX3 expression is upregulated in melanoma cell lines and patient samples. TMX knockdown altered mitochondrial organization, enhanced bioenergetics, and elevated mitochondrial- and NOX4-derived ROS. The TMX-knockdown-induced oxidative stress suppressed melanoma proliferation, migration, and xenograft tumor growth by inhibiting NFAT1. TMX1 is associated with poor disease outcome. (PMID:31304984)
Cross-species orthologs
12 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmx3a | ENSDARG00000038894 |
| danio_rerio | tmx3b | ENSDARG00000088466 |
| mus_musculus | Tmx3 | ENSMUSG00000024614 |
| rattus_norvegicus | Tmx3 | ENSRNOG00000045740 |
| drosophila_melanogaster | ERp60 | FBGN0033663 |
| drosophila_melanogaster | Tmx3 | FBGN0036579 |
| drosophila_melanogaster | Pdi | FBGN0286818 |
| caenorhabditis_elegans | WBGENE00003962 | |
| caenorhabditis_elegans | WBGENE00003963 | |
| caenorhabditis_elegans | pdi-3 | WBGENE00003964 |
| caenorhabditis_elegans | M04D5.1 | WBGENE00014807 |
| caenorhabditis_elegans | ZK973.11 | WBGENE00022836 |
Paralogs (13): ERP44 (ENSG00000023318), PDIA5 (ENSG00000065485), TMX4 (ENSG00000125827), ERP27 (ENSG00000139055), TMX1 (ENSG00000139921), PDIA6 (ENSG00000143870), TXNDC11 (ENSG00000153066), PDIA4 (ENSG00000155660), PDIA3 (ENSG00000167004), PDILT (ENSG00000169340), PDIA2 (ENSG00000185615), P4HB (ENSG00000185624), TXNDC5 (ENSG00000239264)
Protein
Protein identifiers
Protein disulfide-isomerase TMX3 — Q96JJ7 (reviewed: Q96JJ7)
Alternative names: Thioredoxin domain-containing protein 10, Thioredoxin-related transmembrane protein 3
All UniProt accessions (6): B4DIE3, Q96JJ7, H3BPB3, H3BRY0, H3BT89, H3BVI1
UniProt curated annotations — full annotation on UniProt →
Function. Probable disulfide isomerase, which participates in the folding of proteins containing disulfide bonds. May act as a dithiol oxidase. Acts as a regulator of endoplasmic reticulum-mitochondria contact sites via its ability to regulate redox signals.
Subcellular location. Endoplasmic reticulum membrane.
Tissue specificity. Widely expressed. Expressed in brain, testis, lung, skin, kidney, uterus, bone, stomach, liver, prostate, placenta, eye and muscle.
Post-translational modifications. N-glycosylated.
Domain organisation. The di-lysine motif confers endoplasmic reticulum localization for type I membrane proteins.
Induction. Not up-regulated by unfolded protein response (UPR).
Similarity. Belongs to the protein disulfide isomerase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96JJ7-1 | 1 | yes |
| Q96JJ7-2 | 2 |
RefSeq proteins (7): NP_001337441, NP_001337442, NP_001337443, NP_001337444, NP_001337445, NP_001337446, NP_061895* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013766 | Thioredoxin_domain | Domain |
| IPR017937 | Thioredoxin_CS | Conserved_site |
| IPR036249 | Thioredoxin-like_sf | Homologous_superfamily |
| IPR052250 | PDI_TMX3 | Family |
Pfam: PF00085, PF13848
UniProt features (19 total): sequence variant 3, active site 2, glycosylation site 2, splice variant 2, topological domain 2, signal peptide 1, chain 1, disulfide bond 1, transmembrane region 1, domain 1, region of interest 1, short sequence motif 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96JJ7-F1 | 85.68 | 0.65 |
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 (2): 56 (nucleophile); 53 (nucleophile)
Disulfide bonds (1): 53–56
Glycosylation sites (2): 258, 313
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-114608 | Platelet degranulation |
MSigDB gene sets: 122 (showing top):
GOCC_SECRETORY_GRANULE, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, GOCC_CELL_SURFACE, chr18q22, DURCHDEWALD_SKIN_CARCINOGENESIS_DN, SENESE_HDAC3_TARGETS_DN, GOCC_PLATELET_ALPHA_GRANULE, GOCC_PLATELET_ALPHA_GRANULE_MEMBRANE, GOCC_SECRETORY_VESICLE, NUYTTEN_EZH2_TARGETS_DN, GOCC_SECRETORY_GRANULE_MEMBRANE, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_ORGANELLE_SUBCOMPARTMENT, GOMF_DISULFIDE_OXIDOREDUCTASE_ACTIVITY, GOMF_INTRAMOLECULAR_OXIDOREDUCTASE_ACTIVITY
GO Biological Process (0):
GO Molecular Function (4): protein disulfide isomerase activity (GO:0003756), protein-disulfide reductase activity (GO:0015035), protein binding (GO:0005515), isomerase activity (GO:0016853)
GO Cellular Component (6): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), cell surface (GO:0009986), platelet alpha granule membrane (GO:0031092), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Response to elevated platelet cytosolic Ca2+ | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| catalytic activity, acting on a protein | 2 |
| cellular anatomical structure | 2 |
| intramolecular oxidoreductase activity, transposing S-S bonds | 1 |
| disulfide oxidoreductase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| secretory granule membrane | 1 |
| platelet alpha granule | 1 |
Protein interactions and networks
STRING
1547 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMX3 | UNC50 | Q53HI1 | 677 |
| TMX3 | TMX4 | Q9H1E5 | 661 |
| TMX3 | TMX2 | Q9Y320 | 634 |
| TMX3 | ERP29 | P30040 | 578 |
| TMX3 | RIC3 | Q7Z5B4 | 572 |
| TMX3 | ERP27 | Q96DN0 | 568 |
| TMX3 | DSEL | Q8IZU8 | 542 |
| TMX3 | SCCPDH | Q8NBX0 | 467 |
| TMX3 | TXN | P10599 | 460 |
| TMX3 | EMC6 | Q9BV81 | 455 |
| TMX3 | FAM240B | A0A1B0GVZ2 | 451 |
| TMX3 | AGR3 | Q8TD06 | 450 |
| TMX3 | PCF11 | O94913 | 423 |
| TMX3 | CCT7 | Q99832 | 414 |
| TMX3 | RBM5 | P52756 | 412 |
IntAct
81 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| TMX3 | FHL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FHL3 | TMX3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CANX | TMX3 | psi-mi:“MI:0403”(colocalization) | 0.530 |
| ZW10 | psi-mi:“MI:0914”(association) | 0.350 | |
| psi-mi:“MI:0914”(association) | 0.350 | ||
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| E5 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PGRMC1 | psi-mi:“MI:0914”(association) | 0.350 | |
| HAX1 | psi-mi:“MI:0914”(association) | 0.350 | |
| BVLF1 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| M2 | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPO | psi-mi:“MI:0914”(association) | 0.350 | |
| EHD4 | DNAJA2 | psi-mi:“MI:0914”(association) | 0.350 |
| MS4A4A | MON2 | psi-mi:“MI:0914”(association) | 0.350 |
| P2RY6 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC15A3 | psi-mi:“MI:0914”(association) | 0.350 | |
| UNC93B1 | psi-mi:“MI:0914”(association) | 0.350 | |
| VAMP5 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (150): TMX3 (Two-hybrid), TMX3 (Affinity Capture-MS), TMX3 (Affinity Capture-MS), TMX3 (Proximity Label-MS), TMX3 (Proximity Label-MS), TMX3 (Affinity Capture-MS), TMX3 (Affinity Capture-MS), TMX3 (Affinity Capture-MS), TMX3 (Affinity Capture-MS), TMX3 (Affinity Capture-MS), TMX3 (Affinity Capture-RNA), TMX3 (Affinity Capture-MS), TMX3 (Affinity Capture-MS), TMX3 (Synthetic Lethality), TMX3 (Co-fractionation)
ESM2 similar proteins: A0A8M1N5Y4, F1R520, O09161, O09165, O14958, O18934, P07221, P08003, P12637, P13667, P14211, P15253, P18418, P19204, P19633, P20942, P27797, P28491, P30040, P30101, P31231, P31235, P31415, P38657, P38659, P51868, P52193, P52555, P57759, P81623, P81628, Q01H84, Q14554, Q29RV1, Q2HWU3, Q2KIL5, Q4R6K8, Q4VIT4, Q4VIT5, Q5I0H9
Diamond homologs: A0A8M1N5Y4, A3KPF5, D4B2L8, O13704, O13811, O22022, O22263, O48773, O83889, P05307, P07591, P07887, P08003, P09103, P0A4L1, P0A4L2, P0AGG4, P0AGG5, P0AGG6, P0AGG7, P11598, P12243, P12865, P13667, P17967, P21195, P23400, P27773, P30101, P33791, P34329, P37395, P38657, P38658, P38659, P38660, P38661, P46843, P50254, P50338
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
113 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 39 |
| Likely benign | 6 |
| Benign | 37 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3770 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:68677189:ATAGA:A | acceptor_gain | 1.0000 |
| 18:68677190:TAGA:T | acceptor_gain | 1.0000 |
| 18:68677191:AGA:A | acceptor_gain | 1.0000 |
| 18:68677191:AGACT:A | acceptor_loss | 1.0000 |
| 18:68677192:GA:G | acceptor_gain | 1.0000 |
| 18:68677193:ACTG:A | acceptor_loss | 1.0000 |
| 18:68677194:C:A | acceptor_loss | 1.0000 |
| 18:68677194:C:CC | acceptor_gain | 1.0000 |
| 18:68677195:T:G | acceptor_loss | 1.0000 |
| 18:68679456:AACTT:A | donor_loss | 1.0000 |
| 18:68679457:ACTTA:A | donor_loss | 1.0000 |
| 18:68679458:CTTAC:C | donor_loss | 1.0000 |
| 18:68679459:TTA:T | donor_loss | 1.0000 |
| 18:68679460:TA:T | donor_loss | 1.0000 |
| 18:68679461:A:AC | donor_gain | 1.0000 |
| 18:68679462:C:A | donor_loss | 1.0000 |
| 18:68679462:C:CC | donor_gain | 1.0000 |
| 18:68679462:CCA:C | donor_gain | 1.0000 |
| 18:68679531:CCT:C | acceptor_loss | 1.0000 |
| 18:68679532:C:CA | acceptor_loss | 1.0000 |
| 18:68679532:C:CC | acceptor_gain | 1.0000 |
| 18:68679535:C:CT | acceptor_gain | 1.0000 |
| 18:68679536:A:T | acceptor_gain | 1.0000 |
| 18:68680137:A:C | donor_gain | 1.0000 |
| 18:68680979:A:AC | donor_gain | 1.0000 |
| 18:68680980:C:CC | donor_gain | 1.0000 |
| 18:68680980:CTT:C | donor_gain | 1.0000 |
| 18:68681109:CA:C | acceptor_gain | 1.0000 |
| 18:68682923:A:AC | donor_gain | 1.0000 |
| 18:68682923:ACT:A | donor_gain | 1.0000 |
AlphaMissense
3002 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:68677128:A:C | S390R | 1.000 |
| 18:68677128:A:T | S390R | 1.000 |
| 18:68677130:T:G | S390R | 1.000 |
| 18:68700422:A:C | F125L | 1.000 |
| 18:68700422:A:T | F125L | 1.000 |
| 18:68700424:A:G | F125L | 1.000 |
| 18:68701757:G:T | P100Q | 1.000 |
| 18:68701758:G:A | P100S | 1.000 |
| 18:68677144:G:C | P385R | 0.999 |
| 18:68677150:C:T | G383D | 0.999 |
| 18:68697284:G:T | A171D | 0.999 |
| 18:68700423:A:G | F125S | 0.999 |
| 18:68700460:A:C | Y113D | 0.999 |
| 18:68701745:A:G | L104P | 0.999 |
| 18:68701757:G:A | P100L | 0.999 |
| 18:68701757:G:C | P100R | 0.999 |
| 18:68701758:G:C | P100A | 0.999 |
| 18:68701758:G:T | P100T | 0.999 |
| 18:68701769:A:T | V96D | 0.999 |
| 18:68710056:A:T | V77D | 0.999 |
| 18:68710097:C:A | W63C | 0.999 |
| 18:68710097:C:G | W63C | 0.999 |
| 18:68710099:A:G | W63R | 0.999 |
| 18:68710099:A:T | W63R | 0.999 |
| 18:68710118:A:C | C56W | 0.999 |
| 18:68710119:C:A | C56F | 0.999 |
| 18:68710119:C:G | C56S | 0.999 |
| 18:68710119:C:T | C56Y | 0.999 |
| 18:68710120:A:G | C56R | 0.999 |
| 18:68710120:A:T | C56S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000003885 (18:68701684 T>C), RS1000096842 (18:68702108 C>A,T), RS1000129206 (18:68693333 G>A), RS1000323214 (18:68687452 T>C), RS1000326405 (18:68707669 C>T), RS1000386671 (18:68681558 G>A,C), RS1000417727 (18:68681858 C>A), RS1000455422 (18:68713028 C>T), RS1000465915 (18:68694199 CAAG>C), RS1000475483 (18:68673804 T>A,C), RS1000543499 (18:68688574 C>CTCT), RS1000611697 (18:68687080 C>A), RS1000677162 (18:68707416 T>A), RS1000832082 (18:68713792 A>G,T), RS1000884229 (18:68714035 C>T)
Disease associations
OMIM: gene MIM:616102 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002048_1 | Attention deficit hyperactivity disorder | 3.000000e-06 |
| GCST002699_4 | Suicide in bipolar disorder | 4.000000e-06 |
| GCST003074_20 | Cerebral amyloid deposition in APOEe4 non-carriers (PET imaging) | 8.000000e-08 |
| GCST009391_1934 | Metabolite levels | 8.000000e-07 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004321 | attempted suicide |
| EFO:0007707 | cerebral amyloid deposition measurement |
| EFO:0009766 | asparagine measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, decreases methylation | 5 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| deoxynivalenol | increases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Quercetin | increases expression | 1 |
| Rotenone | increases expression | 1 |
| Testosterone | decreases expression | 1 |
| Dronabinol | increases expression | 1 |
| Theophylline | increases expression | 1 |
| Aflatoxin B1 | affects expression | 1 |
| Cadmium Chloride | increases abundance, increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Particulate Matter | increases abundance, 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.