TWSG1
geneOn this page
Also known as TSG
Summary
TWSG1 (twisted gastrulation BMP signaling modulator 1, HGNC:12429) is a protein-coding gene on chromosome 18p11.22, encoding Twisted gastrulation protein homolog 1 (Q9GZX9). May be involved in dorsoventral axis formation.
Enables transforming growth factor beta binding activity. Involved in negative regulation of CD4-positive, alpha-beta T cell proliferation; negative regulation of cytokine production; and positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway. Predicted to be located in extracellular region. Predicted to be active in extracellular space.
Source: NCBI Gene 57045 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 34 total — 1 pathogenic
- MANE Select transcript:
NM_020648
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12429 |
| Approved symbol | TWSG1 |
| Name | twisted gastrulation BMP signaling modulator 1 |
| Location | 18p11.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TSG |
| Ensembl gene | ENSG00000128791 |
| Ensembl biotype | protein_coding |
| OMIM | 605049 |
| Entrez | 57045 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 7 protein_coding, 1 nonsense_mediated_decay
ENST00000262120, ENST00000581641, ENST00000583147, ENST00000867484, ENST00000867485, ENST00000867486, ENST00000934387, ENST00000951397
RefSeq mRNA: 1 — MANE Select: NM_020648
NM_020648
CCDS: CCDS11844
Canonical transcript exons
ENST00000262120 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001018070 | 9359972 | 9360071 |
| ENSE00001187772 | 9399346 | 9402420 |
| ENSE00001187778 | 9337193 | 9337352 |
| ENSE00003595246 | 9396280 | 9396546 |
| ENSE00003849025 | 9334773 | 9334920 |
Expression profiles
Bgee: expression breadth ubiquitous, 279 present calls, max score 99.08.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.0636 / max 203.0739, expressed in 1805 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 169357 | 15.5153 | 1773 |
| 169356 | 9.6832 | 1745 |
| 169358 | 1.8651 | 870 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| seminal vesicle | UBERON:0000998 | 99.08 | gold quality |
| cartilage tissue | UBERON:0002418 | 98.72 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 98.58 | gold quality |
| caput epididymis | UBERON:0004358 | 98.53 | gold quality |
| tibia | UBERON:0000979 | 97.90 | gold quality |
| corpus epididymis | UBERON:0004359 | 97.90 | gold quality |
| cauda epididymis | UBERON:0004360 | 97.85 | gold quality |
| visceral pleura | UBERON:0002401 | 97.62 | gold quality |
| parietal pleura | UBERON:0002400 | 96.94 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 96.52 | gold quality |
| stromal cell of endometrium | CL:0002255 | 95.94 | gold quality |
| thoracic aorta | UBERON:0001515 | 95.83 | gold quality |
| ascending aorta | UBERON:0001496 | 95.76 | gold quality |
| aorta | UBERON:0000947 | 95.66 | gold quality |
| popliteal artery | UBERON:0002250 | 95.53 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 95.53 | gold quality |
| tibial artery | UBERON:0007610 | 95.52 | gold quality |
| artery | UBERON:0001637 | 95.30 | gold quality |
| right coronary artery | UBERON:0001625 | 95.02 | gold quality |
| pleura | UBERON:0000977 | 94.91 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 94.85 | gold quality |
| superficial temporal artery | UBERON:0001614 | 94.80 | gold quality |
| urethra | UBERON:0000057 | 94.78 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 94.60 | gold quality |
| endometrium | UBERON:0001295 | 94.50 | gold quality |
| skin of hip | UBERON:0001554 | 94.42 | gold quality |
| bronchial epithelial cell | CL:0002328 | 94.35 | gold quality |
| upper leg skin | UBERON:0004262 | 94.28 | gold quality |
| penis | UBERON:0000989 | 94.06 | gold quality |
| gall bladder | UBERON:0002110 | 94.01 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ENAD-27 | yes | 110.41 |
| E-MTAB-8142 | yes | 92.60 |
| E-ANND-3 | yes | 20.37 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): DNMT3A, NFKB, RORA, TXK
miRNA regulators (miRDB)
145 targeting TWSG1, 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-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-3162-3P | 100.00 | 65.37 | 363 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
Literature-anchored findings (GeneRIF, showing 10)
- Tsg functions as an agonist synergizing with TGF-beta to inhibit T-cell activation. (PMID:17164348)
- interferes with BMP-mediated hepcidin expression and may act with GDF15 to dysregulate iron homeostasis in thalassemia syndromes. (PMID:19414861)
- mutations in the twisted gastrulation homolog 1 gene are neither a common direct cause nor a frequent modifying factor for human holoprosencephaly pathologies (PMID:21227728)
- these results suggest that BMPER and Tsg maintain a fine-tuned equilibrium that controls BMP pathway activity and is necessary for vascular cell homeostasis. (PMID:23641068)
- Data suggest CHRD (chordin) cleavage by tolloid-like metalloproteinases is insufficient to regulate BMP(bone morphogenetic protein)/BMPR signaling; CHRD fragments and TSG (twisted gastrulation protein) contribute to inhibition of BMP/BMPR signaling. (PMID:26517884)
- Tsg functions as a BMP-agonist by inducing conformational change in chordin making it more susceptible to tolloid cleavage and as a BMP-antagonist either independently or via a chordin-mediated mechanism. (PMID:26829466)
- Findings indicate that twisted gastrulation homolog 1 (TWSG1) maybe serves as a tumor suppressor gene in gastric cancer and potential biomarker or therapeutic target for the diagnosis and treatment of gastric cancer. (PMID:29756996)
- Internal cleavage and synergy with TWSG1 enhance BMP-4 inhibition by BMPER. (PMID:30125619)
- Twisted gastrulation signaling modulator 1 promotes the ability of glioma cell through activating Akt pathway. (PMID:33534374)
- Multifaceted Functions of TWSG1: From Embryogenesis to Cancer Development. (PMID:36361543)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| ENSDARG00000103580 | ||
| danio_rerio | twsg1a | ENSDARG00000104244 |
| mus_musculus | Twsg1 | ENSMUSG00000024098 |
| rattus_norvegicus | Twsg1 | ENSRNOG00000013340 |
| drosophila_melanogaster | cv | FBGN0000394 |
| drosophila_melanogaster | tsg | FBGN0003865 |
| drosophila_melanogaster | srw | FBGN0261952 |
Protein
Protein identifiers
Twisted gastrulation protein homolog 1 — Q9GZX9 (reviewed: Q9GZX9)
All UniProt accessions (2): Q9GZX9, J3QS03
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in dorsoventral axis formation. Seems to antagonize BMP signaling by forming ternary complexes with CHRD and BMPs, thereby preventing BMPs from binding to their receptors. In addition to the anti-BMP function, also has pro-BMP activity, partly mediated by cleavage and degradation of CHRD, which releases BMPs from ternary complexes. May be an important modulator of BMP-regulated cartilage development and chondrocyte differentiation. May play a role in thymocyte development.
Subunit / interactions. Interacts with CHRD and BMP4. This interaction enhances CHRD/BMP4 complex formation. Interacts with BMP7.
Subcellular location. Secreted.
Domain organisation. The N-terminal domain is sufficient to interact with BMP4.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the twisted gastrulation protein family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9GZX9-1 | 1 | yes |
| Q9GZX9-2 | 2 |
RefSeq proteins (1): NP_065699* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006761 | Tsg | Family |
| IPR057635 | Tsg_N | Domain |
| IPR057726 | Tsg_C | Domain |
Pfam: PF04668, PF23782
UniProt features (22 total): helix 8, strand 7, glycosylation site 2, splice variant 2, signal peptide 1, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
6 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8BWL | X-RAY DIFFRACTION | 1.96 |
| 8BWM | X-RAY DIFFRACTION | 2.5 |
| 8BWN | X-RAY DIFFRACTION | 2.57 |
| 8BWD | X-RAY DIFFRACTION | 2.63 |
| 8BWI | X-RAY DIFFRACTION | 3.4 |
| 8BWA | X-RAY DIFFRACTION | 3.61 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9GZX9-F1 | 79.96 | 0.51 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (2): 52, 81
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 286 (showing top):
GOBP_SMAD_PROTEIN_SIGNAL_TRANSDUCTION, GOBP_REGULATION_OF_CELL_ACTIVATION, BEGUM_TARGETS_OF_PAX3_FOXO1_FUSION_UP, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_GLAND_MORPHOGENESIS, GOBP_REGULATION_OF_ALPHA_BETA_T_CELL_ACTIVATION, GOBP_FORMATION_OF_PRIMARY_GERM_LAYER, GOBP_SALIVARY_GLAND_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_OSTEOBLAST_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION, GOBP_POSITIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA_STIMULUS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_FOREBRAIN_DEVELOPMENT
GO Biological Process (18): ossification (GO:0001503), mesoderm formation (GO:0001707), negative regulation of cytokine production (GO:0001818), chondrocyte differentiation (GO:0002062), salivary gland morphogenesis (GO:0007435), hemopoiesis (GO:0030097), BMP signaling pathway (GO:0030509), regulation of BMP signaling pathway (GO:0030510), positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511), positive regulation of BMP signaling pathway (GO:0030513), negative regulation of BMP signaling pathway (GO:0030514), forebrain development (GO:0030900), camera-type eye development (GO:0043010), negative regulation of osteoblast differentiation (GO:0045668), positive regulation of SMAD protein signal transduction (GO:0060391), negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515), negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562), tissue development (GO:0009888)
GO Molecular Function (3): heparin binding (GO:0008201), transforming growth factor beta binding (GO:0050431), protein binding (GO:0005515)
GO Cellular Component (2): obsolete extracellular space (GO:0005615), extracellular region (GO:0005576)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| BMP signaling pathway | 3 |
| positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 3 |
| regulation of BMP signaling pathway | 2 |
| anatomical structure development | 2 |
| multicellular organismal process | 1 |
| formation of primary germ layer | 1 |
| mesoderm morphogenesis | 1 |
| cytokine production | 1 |
| regulation of cytokine production | 1 |
| negative regulation of gene expression | 1 |
| negative regulation of multicellular organismal process | 1 |
| cell differentiation | 1 |
| cartilage development | 1 |
| salivary gland development | 1 |
| gland morphogenesis | 1 |
| cell development | 1 |
| cellular response to BMP stimulus | 1 |
| transforming growth factor beta receptor superfamily signaling pathway | 1 |
| regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 1 |
| regulation of cellular response to growth factor stimulus | 1 |
| transforming growth factor beta receptor signaling pathway | 1 |
| regulation of transforming growth factor beta receptor signaling pathway | 1 |
| positive regulation of cellular response to transforming growth factor beta stimulus | 1 |
| negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 1 |
| negative regulation of cellular response to growth factor stimulus | 1 |
| brain development | 1 |
| eye development | 1 |
| osteoblast differentiation | 1 |
| negative regulation of cell differentiation | 1 |
| regulation of osteoblast differentiation | 1 |
| regulation of SMAD protein signal transduction | 1 |
| SMAD protein signal transduction | 1 |
| positive regulation of intracellular signal transduction | 1 |
| CD4-positive, alpha-beta T cell activation | 1 |
| negative regulation of alpha-beta T cell activation | 1 |
| regulation of CD4-positive, alpha-beta T cell activation | 1 |
| CD4-positive, alpha-beta T cell proliferation | 1 |
| negative regulation of alpha-beta T cell proliferation | 1 |
| negative regulation of CD4-positive, alpha-beta T cell activation | 1 |
| regulation of CD4-positive, alpha-beta T cell proliferation | 1 |
Protein interactions and networks
STRING
1162 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TWSG1 | CHRD | Q9H2X0 | 945 |
| TWSG1 | CHRDL2 | Q6WN34 | 821 |
| TWSG1 | BMP4 | P12644 | 788 |
| TWSG1 | BMPER | Q8N8U9 | 753 |
| TWSG1 | VWCE | Q96DN2 | 723 |
| TWSG1 | BMP5 | P22003 | 674 |
| TWSG1 | BMP2 | P12643 | 666 |
| TWSG1 | BMP6 | P22004 | 664 |
| TWSG1 | BMP1 | P13497 | 653 |
| TWSG1 | GDF15 | P78360 | 640 |
| TWSG1 | BMP7 | P18075 | 606 |
| TWSG1 | RASSF1 | Q9NS23 | 592 |
| TWSG1 | TFR2 | Q9UP52 | 591 |
| TWSG1 | BMPR1A | P36894 | 548 |
| TWSG1 | BMPR2 | Q13873 | 544 |
| TWSG1 | DSPP | Q9NZW4 | 544 |
IntAct
24 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SGTA | TWSG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TWSG1 | SGTA | psi-mi:“MI:0915”(physical association) | 0.560 |
| TWSG1 | GPRC5D | psi-mi:“MI:0915”(physical association) | 0.560 |
| TWSG1 | GJA8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TWSG1 | LRRC4C | psi-mi:“MI:0915”(physical association) | 0.560 |
| FNDC9 | TWSG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM209A | TWSG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GJA8 | TWSG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLK6 | TWSG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TWSG1 | TNS2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TWSG1 | COL6A1 | psi-mi:“MI:0914”(association) | 0.350 |
| TWSG1 | FAM209A | psi-mi:“MI:0915”(physical association) | 0.000 |
| TWSG1 | FNDC9 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (20): TWSG1 (Two-hybrid), TWSG1 (Affinity Capture-RNA), TWSG1 (Two-hybrid), TWSG1 (Affinity Capture-MS), TWSG1 (Affinity Capture-MS), TWSG1 (Affinity Capture-MS), TWSG1 (Two-hybrid), TWSG1 (Two-hybrid), TWSG1 (Two-hybrid), LRRC4C (Two-hybrid), FNDC9 (Two-hybrid), TWSG1 (Proximity Label-MS), BMP4 (Reconstituted Complex), CHRD (Reconstituted Complex), COL6A1 (Affinity Capture-MS)
ESM2 similar proteins: A0A023FBW4, A0A023FF81, A0A090XA85, A0A090XBH9, A0A090XBL6, A0A090XE98, A0A0K8R374, A0A0K8R4R9, A0A0K8R556, A0A0K8R5I2, A0A0K8R6B3, A0A0K8R726, A0A0K8R7D4, A0A0K8RAI0, A0A0K8RCE3, A0A0K8RCU3, A0A0K8RD51, A0A0K8RDH6, A0A0K8RDJ1, A0A0K8RE99, A0A0K8RG61, A0A0K8RJ67, A0A0K8RK34, A0A0K8RKE4, A0A141SFN4, A0A141SFN5, A0A146B485, A0A158RFT4, A0A7S8RGC8, C0HKG1, G1CWH1, G1CWH5, M5BGS2, M5BGY5, P0C8E8, P82465, P82634, P86899, Q2V304, Q3BER2
Diamond homologs: P54356, Q5RAW4, Q98SR9, Q98T88, Q98T89, Q9DGH0, Q9EP52, Q9GZX9, Q9I8M9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
34 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 24 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 979519 | GRCh37/hg19 18p11.23-11.1(chr18:7598173-15422644)x1 | Pathogenic |
SpliceAI
1829 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:9334918:ATGGT:A | donor_loss | 1.0000 |
| 18:9334919:TGG:T | donor_loss | 1.0000 |
| 18:9334921:GTG:G | donor_loss | 1.0000 |
| 18:9334922:T:A | donor_loss | 1.0000 |
| 18:9337191:A:AG | acceptor_gain | 1.0000 |
| 18:9337192:G:GA | acceptor_gain | 1.0000 |
| 18:9337348:TTCAG:T | donor_loss | 1.0000 |
| 18:9337351:AGGTA:A | donor_loss | 1.0000 |
| 18:9337352:G:GC | donor_loss | 1.0000 |
| 18:9337353:GTAGG:G | donor_loss | 1.0000 |
| 18:9337354:T:A | donor_loss | 1.0000 |
| 18:9359967:TCTA:T | acceptor_loss | 1.0000 |
| 18:9359968:CTA:C | acceptor_loss | 1.0000 |
| 18:9359969:TA:T | acceptor_loss | 1.0000 |
| 18:9359970:A:AG | acceptor_gain | 1.0000 |
| 18:9359970:AG:A | acceptor_gain | 1.0000 |
| 18:9359971:G:GT | acceptor_gain | 1.0000 |
| 18:9359971:GG:G | acceptor_gain | 1.0000 |
| 18:9359971:GGA:G | acceptor_gain | 1.0000 |
| 18:9359971:GGAGC:G | acceptor_gain | 1.0000 |
| 18:9360068:GTTG:G | donor_gain | 1.0000 |
| 18:9360070:TGGT:T | donor_loss | 1.0000 |
| 18:9360071:GGT:G | donor_loss | 1.0000 |
| 18:9360072:G:GC | donor_loss | 1.0000 |
| 18:9360072:G:GG | donor_gain | 1.0000 |
| 18:9360073:T:TC | donor_loss | 1.0000 |
| 18:9334916:GCATG:G | donor_gain | 0.9900 |
| 18:9334919:TG:T | donor_gain | 0.9900 |
| 18:9334920:GG:G | donor_gain | 0.9900 |
| 18:9334921:G:GG | donor_gain | 0.9900 |
AlphaMissense
1495 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:9337320:T:A | C31S | 1.000 |
| 18:9337321:G:C | C31S | 1.000 |
| 18:9337341:T:C | C38R | 1.000 |
| 18:9337345:T:C | L39P | 1.000 |
| 18:9360049:G:C | W67C | 1.000 |
| 18:9360049:G:T | W67C | 1.000 |
| 18:9396367:T:G | F104C | 1.000 |
| 18:9399396:T:A | C181S | 1.000 |
| 18:9399397:G:C | C181S | 1.000 |
| 18:9399409:G:A | C185Y | 1.000 |
| 18:9399410:T:G | C185W | 1.000 |
| 18:9399420:G:A | G189R | 1.000 |
| 18:9399420:G:C | G189R | 1.000 |
| 18:9399421:G:A | G189E | 1.000 |
| 18:9399435:C:A | R194S | 1.000 |
| 18:9399436:G:C | R194P | 1.000 |
| 18:9399438:T:A | W195R | 1.000 |
| 18:9399438:T:C | W195R | 1.000 |
| 18:9399440:G:C | W195C | 1.000 |
| 18:9399440:G:T | W195C | 1.000 |
| 18:9399441:T:C | F196L | 1.000 |
| 18:9399442:T:G | F196C | 1.000 |
| 18:9399443:T:A | F196L | 1.000 |
| 18:9399443:T:G | F196L | 1.000 |
| 18:9337320:T:C | C31R | 0.999 |
| 18:9337321:G:A | C31Y | 0.999 |
| 18:9337322:T:G | C31W | 0.999 |
| 18:9337335:A:C | S36R | 0.999 |
| 18:9337337:C:A | S36R | 0.999 |
| 18:9337337:C:G | S36R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000030508 (18:9364833 T>C), RS1000073747 (18:9334164 C>A,T), RS1000098931 (18:9396531 T>C), RS1000135743 (18:9375793 A>C,G), RS1000155242 (18:9369793 A>G), RS1000192605 (18:9379545 A>G), RS1000248737 (18:9338463 C>A), RS1000249062 (18:9376076 A>T), RS1000336258 (18:9396916 G>A), RS1000425000 (18:9333747 T>C), RS1000478271 (18:9337752 A>G), RS1000493532 (18:9358752 G>A), RS1000498580 (18:9353730 C>T), RS1000499539 (18:9363386 C>T), RS1000511922 (18:9358171 G>A,C)
Disease associations
OMIM: gene MIM:605049 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001713_7 | Dental caries | 4.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, decreases methylation | 2 |
| Acetaminophen | increases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Cyclosporine | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Chelating Agents | affects binding, increases expression | 1 |
| Cisplatin | increases expression | 1 |
| Copper | increases expression, affects binding | 1 |
| Ivermectin | decreases expression | 1 |
| Smoke | decreases expression, increases abundance | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | increases expression | 1 |
| Aflatoxin B1 | affects expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 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): dental caries