TMEM47
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Also known as BCMP1DKFZP761J17121DKFZp564E153VAB-9
Summary
TMEM47 (transmembrane protein 47, HGNC:18515) is a protein-coding gene on chromosome Xp21.1, encoding Transmembrane protein 47 (Q9BQJ4). Regulates cell junction organization in epithelial cells.
This gene encodes a member of the PMP22/EMP/claudin protein family. The encoded protein is localized to the ER and the plasma membrane. In dogs, transcripts of this gene exist at high levels in the brain.
Source: NCBI Gene 83604 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 26 total — 1 pathogenic, 1 likely-pathogenic
- MANE Select transcript:
NM_031442
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18515 |
| Approved symbol | TMEM47 |
| Name | transmembrane protein 47 |
| Location | Xp21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | BCMP1, DKFZP761J17121, DKFZp564E153, VAB-9 |
| Ensembl gene | ENSG00000147027 |
| Ensembl biotype | protein_coding |
| OMIM | 300698 |
| Entrez | 83604 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000275954, ENST00000876538
RefSeq mRNA: 1 — MANE Select: NM_031442
NM_031442
CCDS: CCDS14235
Canonical transcript exons
ENST00000275954 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000978421 | 34639247 | 34639387 |
| ENSE00001163631 | 34627075 | 34630491 |
| ENSE00001321415 | 34656804 | 34657285 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 99.67.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.6822 / max 110.7990, expressed in 1052 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 198867 | 5.3326 | 983 |
| 198865 | 0.3096 | 147 |
| 198866 | 0.3065 | 123 |
| 198864 | 0.2837 | 87 |
| 198869 | 0.2707 | 133 |
| 198868 | 0.1791 | 63 |
Top tissues by expression
300 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| choroid plexus epithelium | UBERON:0003911 | 99.67 | gold quality |
| saphenous vein | UBERON:0007318 | 99.60 | gold quality |
| urethra | UBERON:0000057 | 99.34 | gold quality |
| blood vessel layer | UBERON:0004797 | 99.26 | gold quality |
| vena cava | UBERON:0004087 | 98.74 | gold quality |
| seminal vesicle | UBERON:0000998 | 98.67 | gold quality |
| superficial temporal artery | UBERON:0001614 | 98.46 | gold quality |
| cranial nerve II | UBERON:0000941 | 98.08 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 98.05 | gold quality |
| cauda epididymis | UBERON:0004360 | 97.99 | gold quality |
| diaphragm | UBERON:0001103 | 97.58 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 97.48 | gold quality |
| right coronary artery | UBERON:0001625 | 97.46 | gold quality |
| visceral pleura | UBERON:0002401 | 97.44 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 97.33 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 97.31 | gold quality |
| ascending aorta | UBERON:0001496 | 97.27 | gold quality |
| thoracic aorta | UBERON:0001515 | 97.27 | gold quality |
| cardia of stomach | UBERON:0001162 | 97.19 | gold quality |
| aorta | UBERON:0000947 | 97.16 | gold quality |
| pericardium | UBERON:0002407 | 97.13 | gold quality |
| pylorus | UBERON:0001166 | 97.12 | gold quality |
| pleura | UBERON:0000977 | 97.09 | gold quality |
| popliteal artery | UBERON:0002250 | 97.07 | gold quality |
| parietal pleura | UBERON:0002400 | 97.07 | gold quality |
| tibial artery | UBERON:0007610 | 97.06 | gold quality |
| caput epididymis | UBERON:0004358 | 96.97 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 96.92 | gold quality |
| artery | UBERON:0001637 | 96.83 | gold quality |
| mammary duct | UBERON:0001765 | 96.81 | gold quality |
Single-cell (SCXA)
Detected in 9 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-10 | yes | 35.67 |
| E-GEOD-135922 | yes | 24.68 |
| E-MTAB-7316 | yes | 21.93 |
| E-GEOD-81608 | yes | 8.92 |
| E-HCAD-11 | yes | 7.75 |
| E-ANND-3 | yes | 5.50 |
| E-GEOD-83139 | yes | 4.33 |
| E-GEOD-124858 | no | 513.85 |
| E-ENAD-27 | no | 3.32 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F1, FOXO1
miRNA regulators (miRDB)
271 targeting TMEM47, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1193 | 100.00 | 65.93 | 529 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
Literature-anchored findings (GeneRIF, showing 6)
- A 4-transmembrane protein, related to PMP22/EMPs and the Claudins, localizes to the plasma membrane and the ER. The mRNA is present in high amounts in brain. (PMID:11472633)
- Single nucleotide polymorphisms, but no disease-associated mutations, were identified in X-linked mental retardation patients. (PMID:15345028)
- TM4SF10, possibly through ADAP, may regulate Fyn activity (PMID:21881001)
- TMEM147 interacts with lamin B receptor, regulates its localization and levels, and affects cholesterol homeostasis. (PMID:32694168)
- Clinical significance and functional role of transmembrane protein 47 (TMEM47) in chemoresistance of hepatocellular carcinoma. (PMID:32945373)
- Overexpression of TMEM47 Induces Tamoxifen Resistance in Human Breast Cancer Cells. (PMID:33745390)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmem47 | ENSDARG00000057322 |
| mus_musculus | Tmem47 | ENSMUSG00000025666 |
| rattus_norvegicus | Tmem47 | ENSRNOG00000030418 |
| drosophila_melanogaster | CG45049 | FBGN0266409 |
| caenorhabditis_elegans | WBGENE00006875 |
Paralogs (1): PERP (ENSG00000112378)
Protein
Protein identifiers
Transmembrane protein 47 — Q9BQJ4 (reviewed: Q9BQJ4)
Alternative names: Brain cell membrane protein 1, Transmembrane 4 superfamily member 10
All UniProt accessions (1): Q9BQJ4
UniProt curated annotations — full annotation on UniProt →
Function. Regulates cell junction organization in epithelial cells. May play a role in the transition from adherens junction to tight junction assembly. May regulate F-actin polymerization required for tight junctional localization dynamics and affect the junctional localization of PARD6B. During podocyte differentiation may negatively regulate activity of FYN and subsequently the abundance of nephrin.
Subunit / interactions. Interacts with CTNNB1, CTNNA1, PRKCI, PARD6B, FYB1.
Subcellular location. Membrane. Cell junction. Adherens junction.
Tissue specificity. Expressed in adult brain, fetal brain, cerebellum, heart, lung, prostate and thyroid.
Similarity. Belongs to the TMEM47 family.
RefSeq proteins (1): NP_113630* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004031 | PMP22/EMP/MP20/Claudin | Family |
| IPR015664 | P53_induced | Family |
Pfam: PF00822
UniProt features (7 total): transmembrane region 4, initiator methionine 1, chain 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BQJ4-F1 | 86.19 | 0.60 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 215 (showing top):
TAATAAT_MIR126, MODULE_255, TTTGTAG_MIR520D, MODULE_317, TATTATA_MIR374, USF_C, CCATCCA_MIR432, SRF_Q5_01, EVI1_05, MODULE_66, GOBP_CELL_CELL_ADHESION, DAVICIONI_RHABDOMYOSARCOMA_PAX_FOXO1_FUSION_UP, CAGCAGG_MIR370, SRF_C, WTGAAAT_UNKNOWN
GO Biological Process (1): cell-cell adhesion (GO:0098609)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (5): plasma membrane (GO:0005886), cell-cell junction (GO:0005911), adherens junction (GO:0005912), membrane (GO:0016020), anchoring junction (GO:0070161)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell adhesion | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| anchoring junction | 1 |
| cell-cell junction | 1 |
| cellular anatomical structure | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
984 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMEM47 | AJM1 | C9J069 | 722 |
| TMEM47 | FAM47B | Q8NA70 | 581 |
| TMEM47 | CDH17 | Q12864 | 529 |
| TMEM47 | TMEM94 | Q12767 | 480 |
| TMEM47 | FAM110C | Q1W6H9 | 480 |
| TMEM47 | GJC1 | P36383 | 452 |
| TMEM47 | TMEM178A | Q8NBL3 | 449 |
| TMEM47 | ZNF227 | Q86WZ6 | 447 |
| TMEM47 | CNTN5 | O94779 | 446 |
| TMEM47 | ANXA3 | P12429 | 442 |
| TMEM47 | JTB | O76095 | 441 |
| TMEM47 | GDAP1L1 | Q96MZ0 | 438 |
| TMEM47 | CPXM1 | Q96SM3 | 429 |
| TMEM47 | TMEM183A | Q8IXX5 | 418 |
| TMEM47 | TMEM176A | Q96HP8 | 412 |
IntAct
17 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SUSD3 | TMEM47 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM209A | TMEM47 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM179B | TMEM47 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM47 | SPACA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HTT | TMEM47 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM47 | SYNGR2 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM47 | SUSD3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMEM47 | FAM209A | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMEM47 | TMEM179B | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMEM47 | SPACA1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (9): TMEM47 (Two-hybrid), TMEM47 (Two-hybrid), SUSD3 (Two-hybrid), TMEM179B (Two-hybrid), AGTRAP (Affinity Capture-MS), CLCN7 (Affinity Capture-MS), CD63 (Affinity Capture-MS), SYNGR2 (Affinity Capture-MS), SNX8 (Affinity Capture-MS)
ESM2 similar proteins: A0A8V0ZLT4, B3VSC2, B5X3I6, F7BWT7, O35566, O60636, O60637, O95857, O95858, P21926, P40239, P40240, P40241, P48509, P61170, P61171, Q06AA5, Q1JPA3, Q1RMP9, Q3SZR9, Q3ZBH3, Q3ZBV0, Q4R4I5, Q58CY8, Q5FVL6, Q5RE11, Q5ZML7, Q6DCQ3, Q6GMK6, Q6GR34, Q6IP19, Q6PBE5, Q6PFT6, Q6QRN8, Q6ZVK1, Q7SZ07, Q80WR1, Q8BHH9, Q8C784, Q8IZV2
Diamond homologs: E9QHT9, Q1JPA3, Q6IP19, Q6PBE5, Q6PFT6, Q96FX8, Q9BQJ4, Q9JJG6, Q9JK95, Q9XSV3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
26 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 1 |
| Uncertain significance | 9 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1703583 | GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) | Pathogenic |
| 242889 | NM_031442.4(TMEM47):c.35G>C (p.Arg12Pro) | Likely pathogenic |
SpliceAI
427 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:34630492:C:CC | acceptor_gain | 1.0000 |
| X:34639246:CCTG:C | donor_gain | 1.0000 |
| X:34639388:C:CC | acceptor_gain | 1.0000 |
| X:34640788:T:TA | donor_gain | 1.0000 |
| X:34640789:C:A | donor_gain | 1.0000 |
| X:34630487:AACAA:A | acceptor_gain | 0.9900 |
| X:34630488:ACAA:A | acceptor_gain | 0.9900 |
| X:34630489:CAA:C | acceptor_gain | 0.9900 |
| X:34630489:CAAC:C | acceptor_gain | 0.9900 |
| X:34630490:AA:A | acceptor_gain | 0.9900 |
| X:34639241:GTTTA:G | donor_loss | 0.9900 |
| X:34639242:TTTA:T | donor_loss | 0.9900 |
| X:34639243:TTA:T | donor_loss | 0.9900 |
| X:34639244:TA:T | donor_loss | 0.9900 |
| X:34639245:AC:A | donor_loss | 0.9900 |
| X:34639246:CCT:C | donor_loss | 0.9900 |
| X:34639384:CAAT:C | acceptor_gain | 0.9900 |
| X:34639386:ATC:A | acceptor_loss | 0.9900 |
| X:34639388:C:CG | acceptor_loss | 0.9900 |
| X:34656803:CCG:C | donor_gain | 0.9900 |
| X:34639247:C:A | donor_loss | 0.9800 |
| X:34639385:AAT:A | acceptor_gain | 0.9800 |
| X:34639386:AT:A | acceptor_gain | 0.9800 |
| X:34639386:ATCT:A | acceptor_gain | 0.9800 |
| X:34640785:ACATC:A | donor_gain | 0.9800 |
| X:34640786:CATCC:C | donor_gain | 0.9800 |
| X:34639383:CCAAT:C | acceptor_gain | 0.9700 |
| X:34639384:CAATC:C | acceptor_gain | 0.9700 |
| X:34639385:AATCT:A | acceptor_gain | 0.9700 |
| X:34639387:TCTG:T | acceptor_gain | 0.9700 |
AlphaMissense
1155 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:34630365:C:T | G165E | 1.000 |
| X:34630377:A:T | I161K | 1.000 |
| X:34630387:C:G | G158R | 1.000 |
| X:34630390:A:G | W157R | 1.000 |
| X:34630390:A:T | W157R | 1.000 |
| X:34630405:C:G | G152R | 1.000 |
| X:34630413:A:G | F149S | 1.000 |
| X:34656903:A:G | W43R | 1.000 |
| X:34656903:A:T | W43R | 1.000 |
| X:34630362:C:T | G166D | 0.999 |
| X:34630363:C:G | G166R | 0.999 |
| X:34630366:C:G | G165R | 0.999 |
| X:34630366:C:T | G165R | 0.999 |
| X:34630377:A:C | I161R | 0.999 |
| X:34630386:C:T | G158D | 0.999 |
| X:34630395:A:G | L155P | 0.999 |
| X:34630398:C:T | G154D | 0.999 |
| X:34630399:C:G | G154R | 0.999 |
| X:34630402:A:G | Y153H | 0.999 |
| X:34630404:C:A | G152V | 0.999 |
| X:34630404:C:T | G152D | 0.999 |
| X:34630406:C:A | W151C | 0.999 |
| X:34630406:C:G | W151C | 0.999 |
| X:34630408:A:G | W151R | 0.999 |
| X:34630408:A:T | W151R | 0.999 |
| X:34630412:G:C | F149L | 0.999 |
| X:34630412:G:T | F149L | 0.999 |
| X:34630413:A:C | F149C | 0.999 |
| X:34630414:A:G | F149L | 0.999 |
| X:34630448:G:C | F137L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000157726 (X:34633699 C>G,T), RS1000233202 (X:34642577 C>T), RS1000668717 (X:34642389 A>C), RS1000797007 (X:34634016 C>T), RS1000844074 (X:34654000 GCTGA>G), RS1000884802 (X:34658505 T>A), RS1001001742 (X:34643781 G>A), RS1001146336 (X:34631619 T>C), RS1001339964 (X:34654386 T>G), RS1001516535 (X:34634975 C>T), RS1001588629 (X:34634525 C>T), RS1001623110 (X:34648084 G>T), RS1001958322 (X:34645868 A>T), RS1001997937 (X:34658440 C>A), RS1002009085 (X:34646429 T>C)
Disease associations
OMIM: gene MIM:300698 | disease phenotypes: MIM:220200
GenCC curated gene-disease
Mondo (3): Turner syndrome (MONDO:0019499), attention deficit-hyperactivity disorder (MONDO:0007743), Dandy-Walker syndrome (MONDO:0009072)
Orphanet (2): Turner syndrome (Orphanet:881), Isolated Dandy-Walker malformation (Orphanet:217)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001860_13 | Multiple sclerosis | 9.000000e-07 |
| GCST009391_1071 | Metabolite levels | 8.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010364 | lysophosphatidylcholine 20:5 measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D003616 | Dandy-Walker Syndrome | C10.228.140.252.300; C10.228.140.602.500; C10.500.205; C16.131.666.205 |
| D014424 | Turner Syndrome | C12.050.351.875.253.309.872; C12.050.351.875.253.795.750; C12.200.706.316.309.872; C12.200.706.316.795.750; C12.800.316.309.872; C12.800.316.795.750; C14.240.400.980; C14.280.400.980; C16.131.240.400.970; C16.131.260.830.835.750; C16.131.939.316.309.872; C16.131.939.316.795.750; C16.320.180.830.835.750; C19.391.119.309.872; C19.391.119.795.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | affects cotreatment, decreases expression | 3 |
| Estradiol | affects expression, affects cotreatment, decreases expression | 3 |
| bisphenol A | decreases expression, increases expression, increases methylation | 2 |
| Acetaminophen | increases expression | 2 |
| Nickel | decreases expression | 2 |
| Progesterone | decreases expression, increases expression, affects cotreatment | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression, increases expression | 2 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| diallyl trisulfide | increases expression | 1 |
| perfluorooctane sulfonic acid | decreases 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 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Decitabine | decreases expression, decreases reaction | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Allergens | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation, affects methylation | 1 |
| Camptothecin | increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Etoposide | affects response to substance | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00134745 | PHASE4 | COMPLETED | Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome |
| NCT00256126 | PHASE4 | COMPLETED | Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN® |
| NCT00266656 | PHASE4 | COMPLETED | Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome |
| NCT00837616 | PHASE4 | COMPLETED | Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism |
| NCT01245374 | PHASE4 | COMPLETED | Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents |
| NCT01419249 | PHASE4 | COMPLETED | First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study |
| NCT01518062 | PHASE4 | COMPLETED | Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome |
| NCT01734486 | PHASE4 | COMPLETED | Growth Response in Girls With Turner Syndrome |
| NCT03015909 | PHASE4 | COMPLETED | Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. |
| NCT06544473 | PHASE4 | RECRUITING | Determining Dose Equivalence Between Oral and Transdermal Estrogen Treatment in Women With Turner Syndrome |
| NCT06570460 | PHASE4 | RECRUITING | Long Term Effects of Oral Versus Transdermal Estrogen Replacement Therapy in Turner Syndrome |
| NCT06834594 | PHASE4 | RECRUITING | Bleeding Patterns in Sequential and Continuous Progesterone Supplementation in Adolescents With Turner Syndrome |
| NCT00152750 | PHASE4 | UNKNOWN | Study of Clonidine on Sleep Architecture in Children With Tourette’s Syndrome (TS) and Comorbid ADHD |
| NCT00181571 | PHASE4 | COMPLETED | A Double-Blind Comparison of Concerta and Placebo in Adults With Attention Deficit Hyperactivity Disorder |
| NCT00181675 | PHASE4 | COMPLETED | A Double-Blind Comparison of Galantamine HBr and Placebo in Adults With Attention Deficit Hyperactivity Disorder |
| NCT00181714 | PHASE4 | COMPLETED | Prevention of Cigarette Smoking in Attention Deficit Hyperactivity Disorder (ADHD) Youth With Concerta |
| NCT00181948 | PHASE4 | COMPLETED | Strattera Treatment in Children With ADHD Who Have Poor Response to Stimulant Therapy |
| NCT00181987 | PHASE4 | COMPLETED | Concerta in the Treatment of ADHD in Youth and Adults With Bipolar Disorder |
| NCT00190736 | PHASE4 | COMPLETED | Efficacy and Safety of Once-Daily Atomoxetine Hydrochloride in Adults With ADHD Over an Extended Period of Time (6 Months) |
| NCT00190775 | PHASE4 | COMPLETED | A Randomized, Double-Blind Comparison of Placebo and Atomoxetine Hydrochloride Given Once a Day in Adults With Attention-Deficit/Hyperactivity Disorder (ADHD) |
| NCT00190879 | PHASE4 | COMPLETED | Placebo-Controlled Study of Atomoxetine Hydrochloride in the Treatment of Adults With ADHD and Comorbid Social Anxiety Disorder |
| NCT00190957 | PHASE4 | COMPLETED | Atomoxetine Treatment of Adults With ADHD and Comorbid Alcohol Abuse |
| NCT00191035 | PHASE4 | COMPLETED | Maintenance of Benefit With Atomoxetine Hydrochloride in Adolescents With ADHD |
| NCT00191048 | PHASE4 | COMPLETED | Treatment With Atomoxetine Hydrochloride in Children and Adolescents With ADHD |
| NCT00191633 | PHASE4 | COMPLETED | Study of Atomoxetine in Children With ADHD to Assess Symptomatic and Functional Outcomes |
| NCT00191906 | PHASE4 | COMPLETED | Comparison of Atomoxetine and Placebo in Children With Attention-Deficit/Hyperactivity Disorder (ADHD) and/or Reading Disorder (RD) |
| NCT00216918 | PHASE4 | COMPLETED | Neuropsychological Functioning in Children With Attention-Deficit/Hyperactivity Disorder. |
| NCT00221962 | PHASE4 | COMPLETED | Study of Aripiprazole (Abilify) in Children With ADHD (Attention Deficit Hyperactivity Disorder) |
| NCT00223561 | PHASE4 | COMPLETED | Methylphenidate and Driving Ability in Adult Patients With Attention-Deficit Hyperactivity Disorder |
| NCT00299234 | PHASE4 | TERMINATED | Atomoxetine for Children With Acquired Attentional Disorders Following Completion of Chemotherapy for ALL |
| NCT00302406 | PHASE4 | COMPLETED | Naturalistic Substitution of Concerta in Adult Subject With ADHD Receiving Immediate Release Methylphenidate |
| NCT00305370 | PHASE4 | COMPLETED | Aripiprazole Associated With Methylphenidate in Children and Adolescents With Bipolar Disorder and ADHD |
| NCT00381758 | PHASE4 | COMPLETED | The COMACS Study: A Comparison of Methylphenidates in an Analog Classroom Setting |
| NCT00406354 | PHASE4 | COMPLETED | Comparison of Atomoxetine Versus Placebo in Children and Adolescents With ADHD and Comorbid ODD in Germany |
| NCT00434213 | PHASE4 | COMPLETED | Characterization of Dermal Reactions in Pediatric Patients With ADHD Using DAYTRANA |
| NCT00468143 | PHASE4 | COMPLETED | A Within-Subject Cross-Over Comparison Between Immediate Release and Extended Release Adderall |
| NCT00471354 | PHASE4 | COMPLETED | A Study for Patients With Attention-Deficit/Hyperactivity Disorder Treated With Atomoxetine |
| NCT00483106 | PHASE4 | COMPLETED | Clinical and Pharmacogenetic Study of Attention Deficit With Hyperactivity Disorder (ADHD) |
| NCT00485849 | PHASE4 | COMPLETED | A Study of Atomoxetine for Attention Deficit and Hyperactive/Impulsive Behaviour Problems in Children With ASD |
| NCT00485875 | PHASE4 | COMPLETED | Safety and Efficacy of Switching From a Stimulant Medication to Atomoxetine in Children and Adolescents With ADHD |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Dandy-Walker syndrome, Turner syndrome