MYRF
geneOn this page
Also known as Ndt80pqn-47MRF
Summary
MYRF (myelin regulatory factor, HGNC:1181) is a protein-coding gene on chromosome 11q12.2, encoding Myelin regulatory factor (Q9Y2G1). Constitutes a precursor of the transcription factor.
This gene encodes a transcription factor that is required for central nervous system myelination and may regulate oligodendrocyte differentiation. It is thought to act by increasing the expression of genes that effect myelin production but may also directly promote myelin gene expression. Loss of a similar gene in mouse models results in severe demyelination. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 745 — RefSeq curated summary.
At a glance
- Gene–disease (curated): cardiac-urogenital syndrome (Definitive, ClinGen) — +2 more curated relationships
- GWAS associations: 142
- Clinical variants (ClinVar): 363 total — 35 pathogenic, 33 likely-pathogenic
- Phenotypes (HPO): 44
- Transcription factor: yes — 12 downstream targets (CollecTRI)
- MANE Select transcript:
NM_001127392
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1181 |
| Approved symbol | MYRF |
| Name | myelin regulatory factor |
| Location | 11q12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Ndt80, pqn-47, MRF |
| Ensembl gene | ENSG00000124920 |
| Ensembl biotype | protein_coding |
| OMIM | 608329 |
| Entrez | 745 |
Gene structure
Transcript identifiers
Ensembl transcripts: 29 — 21 protein_coding, 6 retained_intron, 2 nonsense_mediated_decay
ENST00000265460, ENST00000278836, ENST00000389602, ENST00000536352, ENST00000537318, ENST00000537766, ENST00000539361, ENST00000546247, ENST00000675319, ENST00000675345, ENST00000675792, ENST00000856798, ENST00000856799, ENST00000856800, ENST00000856801, ENST00000856802, ENST00000856803, ENST00000856804, ENST00000856805, ENST00000856806, ENST00000856807, ENST00000856808, ENST00000856809, ENST00000856810, ENST00000856811, ENST00000856812, ENST00000856813, ENST00000918478, ENST00000918479
RefSeq mRNA: 2 — MANE Select: NM_001127392
NM_001127392, NM_013279
CCDS: CCDS31579, CCDS44622
Canonical transcript exons
ENST00000278836 — 27 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000851667 | 61770246 | 61770525 |
| ENSE00000851668 | 61769260 | 61769321 |
| ENSE00000851669 | 61765958 | 61766221 |
| ENSE00000916469 | 61777734 | 61777845 |
| ENSE00000916471 | 61777264 | 61777464 |
| ENSE00000916474 | 61776787 | 61776877 |
| ENSE00000916486 | 61771829 | 61771952 |
| ENSE00000916488 | 61771500 | 61771750 |
| ENSE00001140120 | 61776322 | 61776432 |
| ENSE00001196708 | 61752636 | 61752790 |
| ENSE00001228603 | 61783498 | 61783600 |
| ENSE00001324593 | 61765625 | 61765712 |
| ENSE00001357447 | 61776056 | 61776132 |
| ENSE00001506342 | 61773967 | 61774162 |
| ENSE00001726169 | 61784280 | 61784385 |
| ENSE00001757101 | 61785800 | 61785874 |
| ENSE00001803334 | 61783851 | 61783925 |
| ENSE00001806276 | 61779263 | 61779423 |
| ENSE00002268635 | 61786063 | 61788518 |
| ENSE00002319261 | 61778380 | 61778489 |
| ENSE00003462587 | 61780712 | 61780792 |
| ENSE00003502350 | 61780222 | 61780290 |
| ENSE00003506782 | 61781138 | 61781329 |
| ENSE00003526766 | 61779498 | 61779570 |
| ENSE00003529284 | 61781573 | 61781824 |
| ENSE00003568414 | 61779842 | 61779930 |
| ENSE00003642612 | 61780960 | 61781045 |
Expression profiles
Bgee: expression breadth ubiquitous, 223 present calls, max score 99.20.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.4766 / max 1290.5938, expressed in 1002 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 114597 | 22.8323 | 1000 |
| 114600 | 0.3329 | 152 |
| 114599 | 0.1994 | 54 |
| 114601 | 0.1016 | 54 |
| 114598 | 0.0103 | 4 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| middle frontal gyrus | UBERON:0002702 | 99.20 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 98.81 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 98.71 | gold quality |
| spinal cord | UBERON:0002240 | 98.64 | gold quality |
| inferior olivary complex | UBERON:0002127 | 98.45 | gold quality |
| medulla oblongata | UBERON:0001896 | 97.31 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 97.23 | gold quality |
| ventral tegmental area | UBERON:0002691 | 96.86 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 96.80 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 96.25 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 96.22 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 96.20 | gold quality |
| midbrain | UBERON:0001891 | 96.19 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 96.17 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 96.14 | gold quality |
| substantia nigra | UBERON:0002038 | 96.09 | gold quality |
| corpus callosum | UBERON:0002336 | 95.79 | gold quality |
| putamen | UBERON:0001874 | 95.78 | gold quality |
| pylorus | UBERON:0001166 | 95.44 | gold quality |
| gall bladder | UBERON:0002110 | 95.24 | gold quality |
| globus pallidus | UBERON:0001875 | 94.82 | gold quality |
| cranial nerve II | UBERON:0000941 | 94.76 | gold quality |
| Ammon’s horn | UBERON:0001954 | 94.64 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 94.50 | gold quality |
| amygdala | UBERON:0001876 | 94.27 | gold quality |
| medial globus pallidus | UBERON:0002477 | 94.20 | gold quality |
| right lung | UBERON:0002167 | 94.16 | gold quality |
| body of pancreas | UBERON:0001150 | 94.04 | gold quality |
| caudate nucleus | UBERON:0001873 | 94.01 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 93.64 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6108 | yes | 122.62 |
| E-GEOD-84465 | yes | 12.51 |
| E-ANND-3 | yes | 4.33 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
12 targets.
| Target | Regulation |
|---|---|
| ABCB1 | |
| ADAM2 | |
| CDR2 | |
| COL5A2 | |
| EIF3K | |
| FGF2 | |
| MIR499A | |
| MYF6 | |
| MYH7B | |
| MYOG | |
| SMARCA4 | |
| STAB1 |
miRNA regulators (miRDB)
142 targeting MYRF, 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-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-302A-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302B-3P | 99.89 | 71.23 | 1777 |
Literature-anchored findings (GeneRIF, showing 21)
- A Bacteriophage tailspike domain promotes self-cleavage of a human membrane-bound transcription factor, the myelin regulatory factor MYRF. (PMID:23966832)
- molecular mechanisms underlying the homo-trimerization of Myrf N-terminal fragments and the homo-trimeric DNA binding of Myrf N-terminal fragments (PMID:28160598)
- The relative scarcity of oligodendrocyte lineage cells expressing MYRF in demyelinated MS lesions demonstrates, for the first time, that chronic lesions lack oligodendrocytes that express this necessary transcription factor for remyelination and supports the notion that a failure to fully differentiate underlies remyelination failure. (PMID:28631093)
- Functional defects of MYRF are likely to be causally associated with encephalopathy with extensive myelin vacuolization (PMID:29265453)
- Heterozygous variants in MYRF should be considered in patients with variants of Scimitar syndrome and urogenital anomalies. (PMID:29446546)
- We identified four unrelated individuals with congenital diaphragmatic hernia with damaging de novo variants in MYRF (P = 5.3x10(-8)), including one likely gene-disrupting (LGD) and three deleterious missense (D-mis) variants. Eight additional individuals with de novo LGD or missense variants were identified from our other genetic studies or from the literature. (PMID:30532227)
- The results suggest that MYRF is a novel causative gene of 46,XY and 46,XX disorders of sex development and MYRF is a transcription factor regulating coelomic epithelium and/or coelomic epithelium derived cells proliferation and migration, which is essential for development of multiple organs. (PMID:30985895)
- Identified a canonical splice site alteration upstream of the last exon of the gene encoding myelin regulatory factor (MYRF c.3376-1G>A), which produced a stable RNA transcript, leading to a frameshift mutation p.Gly1126Valfs*31 in the C-terminus of the protein. (PMID:31048900)
- results underline the importance of including SLC18A3 sequencing in the differential diagnostics of fetuses with arthrogryposis, FADS, or LMPS of unknown etiology (PMID:31069960)
- These evidence all support that truncation mutations in the C-terminal region of MYRF are responsible for autosomal dominant high hyperopia in these families. (PMID:31172260)
- This is the first trio-based whole-genome sequencing (WGS), study for nanophthalmos, revealing the potential role of de novo mutations (DNMs) in MYRF and rare inherited genetic variants in PRSS56 and MFRP. (PMID:31266062)
- C-terminal variants in MYRF, which are expected to escape nonsense-mediated decay, represent a rare cause of autosomal dominant nanophthalmos with or without dextrocardia or congenital diaphragmatic hernia. (PMID:31700225)
- Functional mechanism and pathogenic potential of MYRF ICA domain mutations implicated in birth defects. (PMID:31964908)
- The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort. (PMID:32052405)
- Pancreatic Cancer Cells Require the Transcription Factor MYRF to Maintain ER Homeostasis. (PMID:32997974)
- Common Myelin Regulatory Factor Gene Variants Predisposing to Excellence in Sports. (PMID:33670313)
- Functional mechanisms of MYRF DNA-binding domain mutations implicated in birth defects. (PMID:33798553)
- MYRF: A Mysterious Membrane-Bound Transcription Factor Involved in Myelin Development and Human Diseases. (PMID:33864620)
- Evaluation of MYRF as a candidate gene for primary angle closure glaucoma. (PMID:35136345)
- Truncation mutations in MYRF underlie primary angle closure glaucoma. (PMID:36129575)
- Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism? (PMID:36695166)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | myrf | ENSDARG00000078676 |
| mus_musculus | Myrf | ENSMUSG00000036098 |
| rattus_norvegicus | Myrf | ENSRNOG00000028274 |
| drosophila_melanogaster | CG3328 | FBGN0034985 |
| caenorhabditis_elegans | WBGENE00004134 | |
| caenorhabditis_elegans | WBGENE00008999 |
Paralogs (1): MYRFL (ENSG00000166268)
Protein
Protein identifiers
Myelin regulatory factor — Q9Y2G1 (reviewed: Q9Y2G1)
Alternative names: Myelin gene regulatory factor
All UniProt accessions (4): Q9Y2G1, A0A6Q8PFL7, A0A6Q8PFY9, A0A6Q8PHM1
UniProt curated annotations — full annotation on UniProt →
Function. Constitutes a precursor of the transcription factor. Mediates the autocatalytic cleavage that releases the Myelin regulatory factor, N-terminal component that specifically activates transcription of central nervous system (CNS) myelin genes. Membrane-bound part that has no transcription factor activity and remains attached to the endoplasmic reticulum membrane following cleavage. Transcription factor that specifically activates expression of myelin genes such as MBP, MOG, MAG, DUSP15 and PLP1 during oligodendrocyte (OL) maturation, thereby playing a central role in oligodendrocyte maturation and CNS myelination. Specifically recognizes and binds DNA sequence 5’-CTGGYAC-3’ in the regulatory regions of myelin-specific genes and directly activates their expression. Not only required during oligodendrocyte differentiation but is also required on an ongoing basis for the maintenance of expression of myelin genes and for the maintenance of a mature, viable oligodendrocyte phenotype.
Subunit / interactions. Homotrimer. Interacts (via C-terminal region) with TMEM98; the interaction inhibits MYRF self-cleavage.
Subcellular location. Endoplasmic reticulum membrane Nucleus. Cytoplasm Endoplasmic reticulum membrane.
Tissue specificity. Expressed in lung, brainstem, uterus and, to a lesser extent, in basal ganglion and liver. Weakly expressed in cerebellum. High expression detected in the retinal pigment epithelium, choroid, and optic nerve.
Post-translational modifications. Glycosylated. Follows autocatalytic cleavage via the peptidase S74 domain. Autoprocessing is apparently constitutive and is essential for transcriptional activity. Autocatalytic cleavage is inhibited by interaction with TMEM98.
Disease relevance. Encephalitis/encephalopathy, mild, with reversible myelin vacuolization (MMERV) [MIM:618113] An autosomal dominant disease characterized by episodes of acute encephalitis associated with impaired consciousness, delirious behavior, seizures, and reversible splenial lesions observed on diffusion magnetic resonance imaging. Most patients completely recover and there are no neurologic sequelae. MMERV occurs in children and is frequently associated with a trigger, such as a febrile illness. The disease may be caused by variants affecting the gene represented in this entry. Cardiac-urogenital syndrome (CUGS) [MIM:618280] An autosomal dominant syndrome characterized by partial anomalous pulmonary venous return, tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism. The disease is caused by variants affecting the gene represented in this entry. Nanophthalmos 1 (NNO1) [MIM:600165] A form of nanophthalmos, a disorder of eye development characterized by extreme hyperopia and small functional eyes. The cornea and lens are normal in size and shape. Hyperopia occurs because insufficient growth along the visual axis places these lensing components too close to the retina. Nanophthalmic eyes show considerable thickening of both the choroidal vascular bed and scleral coat, which provide nutritive and structural support for the retina. NNO1 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.
Domain organisation. The nuclear localization signals mediate translocation to the nucleus. The peptidase S74 domain, also named Intramolecular Chaperone Auto-processed (ICA) domain or Intramolecular Chaperone Domain (ICD), has protease activity and mediates autocatalytic processing of the protein to generate the Myelin regulatory factor, N-terminal active transcription factor and the Myelin regulatory factor, C-terminal components.
Similarity. Belongs to the MRF family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y2G1-1 | 1 | yes |
| Q9Y2G1-2 | 2 |
RefSeq proteins (2): NP_001120864, NP_037411 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008967 | p53-like_TF_DNA-bd_sf | Homologous_superfamily |
| IPR024061 | NDT80_DNA-bd_dom | Domain |
| IPR025719 | MYRF_C2 | Domain |
| IPR026932 | MYRF_ICA | Domain |
| IPR030392 | S74_ICA | Domain |
| IPR037141 | NDT80_DNA-bd_dom_sf | Homologous_superfamily |
| IPR051577 | MRF-like | Family |
Pfam: PF05224, PF13884, PF13887, PF13888
UniProt features (73 total): strand 18, mutagenesis site 10, sequence variant 9, region of interest 5, compositionally biased region 5, glycosylation site 4, chain 3, splice variant 3, sequence conflict 3, short sequence motif 2, topological domain 2, turn 2, coiled-coil region 1, site 1, modified residue 1, transmembrane region 1, helix 1, domain 1, DNA-binding region 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5YHU | X-RAY DIFFRACTION | 1.85 |
| 5ZHU | X-RAY DIFFRACTION | 2.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y2G1-F1 | 61.76 | 0.29 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 586–587 (cleavage; by autolysis)
Post-translational modifications (1): 123
Glycosylation sites (4): 919, 1043, 1065, 1129
Mutagenesis-validated functional residues (10):
| Position | Phenotype |
|---|---|
| 454 | decreased affinity for dna. |
| 478 | decreased affinity for dna. |
| 530 | decreased affinity for dna. |
| 587 | prevents autocatalytic cleavage and generation of myelin regulatory factor, n-terminal part. |
| 588 | reduces autocatalytic cleavage and generation of myelin regulatory factor, n-terminal part. |
| 592 | prevents autocatalytic cleavage and generation of myelin regulatory factor, n-terminal part. |
| 608 | does not affect autocatalytic cleavage. |
| 635 | reduces autocatalytic cleavage and generation of myelin regulatory factor, n-terminal part. |
| 688 | does not affect autocatalytic cleavage. |
| 699 | prevents autocatalytic cleavage and generation of myelin regulatory factor, n-terminal part. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 341 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_DN, RNGTGGGC_UNKNOWN, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_RESPONSE_TO_COCAINE, GOBP_RESPONSE_TO_IMMOBILIZATION_STRESS, TGCACTT_MIR519C_MIR519B_MIR519A, CROONQUIST_NRAS_SIGNALING_DN, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GOBP_POSITIVE_REGULATION_OF_GLIAL_CELL_DIFFERENTIATION, GOBP_PLASMA_MEMBRANE_ORGANIZATION, GOBP_GLIAL_CELL_DEVELOPMENT, FRASOR_RESPONSE_TO_SERM_OR_FULVESTRANT_DN, GOBP_NEUROGENESIS, CREBP1_Q2
GO Biological Process (14): oligodendrocyte development (GO:0014003), protein autoprocessing (GO:0016540), central nervous system myelination (GO:0022010), positive regulation of myelination (GO:0031643), central nervous system myelin maintenance (GO:0032286), response to immobilization stress (GO:0035902), response to cocaine (GO:0042220), positive regulation of DNA-templated transcription (GO:0045893), oligodendrocyte differentiation (GO:0048709), positive regulation of oligodendrocyte differentiation (GO:0048714), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), proteolysis (GO:0006508), cell differentiation (GO:0030154)
GO Molecular Function (7): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription factor activity (GO:0003700), peptidase activity (GO:0008233), identical protein binding (GO:0042802), sequence-specific DNA binding (GO:0043565), DNA binding (GO:0003677), hydrolase activity (GO:0016787)
GO Cellular Component (9): nucleus (GO:0005634), nucleoplasm (GO:0005654), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), cytosol (GO:0005829), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), endomembrane system (GO:0012505), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| regulation of DNA-templated transcription | 3 |
| intracellular membrane-bounded organelle | 3 |
| cytoplasm | 3 |
| oligodendrocyte differentiation | 2 |
| myelination | 2 |
| DNA-templated transcription | 2 |
| endomembrane system | 2 |
| glial cell development | 1 |
| protein processing | 1 |
| oligodendrocyte development | 1 |
| axon ensheathment in central nervous system | 1 |
| regulation of myelination | 1 |
| positive regulation of nervous system process | 1 |
| positive regulation of cellular process | 1 |
| central nervous system myelination | 1 |
| myelin maintenance | 1 |
| response to stress | 1 |
| response to alkaloid | 1 |
| response to oxygen-containing compound | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| central nervous system development | 1 |
| glial cell differentiation | 1 |
| positive regulation of glial cell differentiation | 1 |
| regulation of oligodendrocyte differentiation | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| transcription by RNA polymerase II | 1 |
| protein metabolic process | 1 |
| cellular developmental process | 1 |
| chromatin | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| protein binding | 1 |
| DNA binding | 1 |
Protein interactions and networks
STRING
930 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MYRF | BEST1 | O76090 | 832 |
| MYRF | SOX10 | P56693 | 787 |
| MYRF | FEN1 | P39748 | 774 |
| MYRF | TMEM98 | Q9Y2Y6 | 757 |
| MYRF | PLP1 | P04400 | 741 |
| MYRF | SPO11 | Q9Y5K1 | 703 |
| MYRF | OLIG1 | Q8TAK6 | 693 |
| MYRF | OLIG2 | Q13516 | 683 |
| MYRF | MBP | P02686 | 613 |
| MYRF | NKX2-2 | O95096 | 609 |
| MYRF | RFFL | Q8WZ73 | 597 |
| MYRF | REC8 | O95072 | 578 |
| MYRF | MOBP | Q13875 | 565 |
| MYRF | FA2H | Q7L5A8 | 551 |
| MYRF | ENPP6 | Q6UWR7 | 546 |
IntAct
24 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PDGFRB | PIK3R2 | psi-mi:“MI:0914”(association) | 0.610 |
| GRAMD2B | EFCAB14 | psi-mi:“MI:0914”(association) | 0.530 |
| CTLA4 | B4GALT5 | psi-mi:“MI:0914”(association) | 0.530 |
| KCNE3 | RIOK3 | psi-mi:“MI:0914”(association) | 0.530 |
| NS3 | C15orf61 | psi-mi:“MI:0914”(association) | 0.350 |
| SHTN1 | psi-mi:“MI:0914”(association) | 0.350 | |
| TMEM223 | psi-mi:“MI:0914”(association) | 0.350 | |
| TNFRSF10A | psi-mi:“MI:0914”(association) | 0.350 | |
| PCDHB3 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| KCNE3 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| GPRC5B | TNFRSF10A | psi-mi:“MI:0914”(association) | 0.350 |
| ACKR3 | PDE2A | psi-mi:“MI:0914”(association) | 0.350 |
| CHRNB1 | CLGN | psi-mi:“MI:0914”(association) | 0.350 |
| DLK1 | PLPP3 | psi-mi:“MI:0914”(association) | 0.350 |
| FYN | MYCBP2 | psi-mi:“MI:0914”(association) | 0.350 |
| MICB | LGALS8 | psi-mi:“MI:0914”(association) | 0.350 |
| OSTM1 | ASMTL | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHGA5 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRMT2 | DIAPH2 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM98 | PDGFRB | psi-mi:“MI:0914”(association) | 0.350 |
| TNFSF13 | FADS1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZDHHC11 | NRP1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (25): MYRF (Proximity Label-MS), MYRF (Affinity Capture-MS), MYRF (Affinity Capture-MS), MYRF (Affinity Capture-MS), MYRF (Affinity Capture-MS), MYRF (Affinity Capture-MS), MYRF (Proximity Label-MS), MYRF (Proximity Label-MS), MYRF (Proximity Label-MS), MYRF (Proximity Label-MS), MYRF (Proximity Label-MS), MYRF (Proximity Label-MS), MYRF (Proximity Label-MS), MYRF (Proximity Label-MS), MYRF (Affinity Capture-MS)
ESM2 similar proteins: A1YFY6, A2T6X9, A6H7I8, B2RUJ5, F1M5F3, F1N2W9, O35430, O35431, O95487, O95628, O95644, P0C6S7, P14316, P17863, P22681, P22682, P23798, P23906, P35227, P81133, P98084, Q02410, Q0IHY4, Q13469, Q14190, Q14432, Q1L994, Q3UR85, Q52L14, Q5CD77, Q5RD33, Q60591, Q61045, Q61079, Q66JB6, Q69ZT9, Q6NRE7, Q6QB00, Q8BIZ1, Q8BT14
Diamond homologs: D9PTN5, G5EFI7, Q1ZXA9, Q3UN70, Q3UR85, Q54B29, Q66IV1, Q9Y2G1, F1N4M2, Q54PT9, Q96LU7, B0FIH7
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MAP2K1 | “down-regulates activity” | MYRF | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
363 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 35 |
| Likely pathogenic | 33 |
| Uncertain significance | 186 |
| Likely benign | 43 |
| Benign | 31 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1013323 | NM_001127392.3(MYRF):c.1705G>T (p.Glu569Ter) | Pathogenic |
| 1176284 | NM_001127392.3(MYRF):c.350del (p.Gly117fs) | Pathogenic |
| 1180013 | NM_001127392.3(MYRF):c.1072C>T (p.Gln358Ter) | Pathogenic |
| 1698932 | NM_001127392.3(MYRF):c.648C>A (p.Tyr216Ter) | Pathogenic |
| 1710281 | NM_001127392.3(MYRF):c.428del (p.Gly143fs) | Pathogenic |
| 2307379 | NM_001127392.3(MYRF):c.1207C>T (p.Gln403Ter) | Pathogenic |
| 2441925 | NM_001127392.3(MYRF):c.1543C>T (p.Gln515Ter) | Pathogenic |
| 2582895 | NM_001127392.3(MYRF):c.871C>T (p.Arg291Ter) | Pathogenic |
| 2584483 | NM_001127392.3(MYRF):c.2956C>T (p.Arg986Ter) | Pathogenic |
| 2633042 | NM_001127392.3(MYRF):c.492_493del (p.Glu164fs) | Pathogenic |
| 3030545 | NM_001127392.3(MYRF):c.1208A>T (p.Gln403Leu) | Pathogenic |
| 3235908 | NM_001127392.3(MYRF):c.135-119_1062del | Pathogenic |
| 3346708 | NM_001127392.3(MYRF):c.1948A>T (p.Lys650Ter) | Pathogenic |
| 3772320 | NM_001127392.3(MYRF):c.148_152del (p.Ile50fs) | Pathogenic |
| 3777343 | NM_001127392.3(MYRF):c.1116-3C>G | Pathogenic |
| 3894587 | NM_001127392.3(MYRF):c.3376-1G>A | Pathogenic |
| 3894588 | MYRF, 1-BP DUP, 769C | Pathogenic |
| 3894589 | MYRF, 1-BP DEL, 789C (rs769274302) | Pathogenic |
| 3894590 | MYRF, 1-BP DUP, 789C (rs769274302) | Pathogenic |
| 3894591 | MYRF, ARG478PRO | Pathogenic |
| 3894592 | MYRF, ARG986TER | Pathogenic |
| 4072342 | NM_001127392.3(MYRF):c.3091del (p.Gln1031fs) | Pathogenic |
| 4536237 | NM_001127392.3(MYRF):c.278del (p.Pro93fs) | Pathogenic |
| 4537406 | NM_001127392.3(MYRF):c.1134_1135del (p.Val379fs) | Pathogenic |
| 560883 | NM_001127392.3(MYRF):c.1208A>G (p.Gln403Arg) | Pathogenic |
| 599372 | NM_001127392.3(MYRF):c.2518C>T (p.Arg840Ter) | Pathogenic |
| 599373 | NM_001127392.3(MYRF):c.1254_1255dup (p.Thr419fs) | Pathogenic |
| 620313 | NM_001127392.3(MYRF):c.2817G>A (p.Trp939Ter) | Pathogenic |
| 635185 | NM_001127392.3(MYRF):c.3361del (p.Arg1121fs) | Pathogenic |
| 635274 | NM_001127392.3(MYRF):c.3118A>G (p.Arg1040Gly) | Pathogenic |
SpliceAI
5119 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:61765620:TGCA:T | acceptor_loss | 1.0000 |
| 11:61765622:CAGGC:C | acceptor_loss | 1.0000 |
| 11:61765623:A:AG | acceptor_gain | 1.0000 |
| 11:61765624:G:GA | acceptor_gain | 1.0000 |
| 11:61765624:GGC:G | acceptor_gain | 1.0000 |
| 11:61765624:GGCC:G | acceptor_gain | 1.0000 |
| 11:61765696:G:GT | donor_gain | 1.0000 |
| 11:61765699:G:GT | donor_gain | 1.0000 |
| 11:61765708:GACCT:G | donor_gain | 1.0000 |
| 11:61765709:ACCT:A | donor_gain | 1.0000 |
| 11:61765710:CCT:C | donor_gain | 1.0000 |
| 11:61765711:CT:C | donor_gain | 1.0000 |
| 11:61765711:CTGT:C | donor_loss | 1.0000 |
| 11:61765712:TGTG:T | donor_loss | 1.0000 |
| 11:61765713:G:GG | donor_gain | 1.0000 |
| 11:61765714:T:A | donor_loss | 1.0000 |
| 11:61765715:G:GC | donor_loss | 1.0000 |
| 11:61770518:GGAGC:G | donor_gain | 1.0000 |
| 11:61770519:GAGC:G | donor_gain | 1.0000 |
| 11:61770521:GC:G | donor_gain | 1.0000 |
| 11:61770521:GCTGA:G | donor_gain | 1.0000 |
| 11:61770522:C:G | donor_gain | 1.0000 |
| 11:61770524:GA:G | donor_gain | 1.0000 |
| 11:61770526:G:GG | donor_gain | 1.0000 |
| 11:61770530:GAC:G | donor_gain | 1.0000 |
| 11:61771827:AG:A | acceptor_gain | 1.0000 |
| 11:61771828:GG:G | acceptor_gain | 1.0000 |
| 11:61771828:GGCC:G | acceptor_gain | 1.0000 |
| 11:61771948:GAGCT:G | donor_gain | 1.0000 |
| 11:61771950:GCT:G | donor_gain | 1.0000 |
AlphaMissense
7511 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:61771889:T:A | I351N | 1.000 |
| 11:61771894:T:A | W353R | 1.000 |
| 11:61771894:T:C | W353R | 1.000 |
| 11:61771895:G:C | W353S | 1.000 |
| 11:61771896:G:C | W353C | 1.000 |
| 11:61771896:G:T | W353C | 1.000 |
| 11:61771918:T:A | W361R | 1.000 |
| 11:61771918:T:C | W361R | 1.000 |
| 11:61773980:T:G | Y377D | 1.000 |
| 11:61773987:T:A | V379E | 1.000 |
| 11:61773993:C:A | A381E | 1.000 |
| 11:61773995:G:C | D382H | 1.000 |
| 11:61773996:A:T | D382V | 1.000 |
| 11:61773998:A:C | K383Q | 1.000 |
| 11:61773998:A:G | K383E | 1.000 |
| 11:61773999:A:C | K383T | 1.000 |
| 11:61773999:A:T | K383M | 1.000 |
| 11:61774000:G:C | K383N | 1.000 |
| 11:61774000:G:T | K383N | 1.000 |
| 11:61774001:G:A | G384S | 1.000 |
| 11:61774001:G:C | G384R | 1.000 |
| 11:61774001:G:T | G384C | 1.000 |
| 11:61774002:G:A | G384D | 1.000 |
| 11:61774002:G:T | G384V | 1.000 |
| 11:61774004:T:C | F385L | 1.000 |
| 11:61774005:T:C | F385S | 1.000 |
| 11:61774005:T:G | F385C | 1.000 |
| 11:61774006:C:A | F385L | 1.000 |
| 11:61774006:C:G | F385L | 1.000 |
| 11:61774010:T:C | F387L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000172133 (11:61763613 C>T), RS1000224871 (11:61764357 A>G), RS1000238769 (11:61760489 G>T), RS1000401284 (11:61776361 G>A,C,T), RS1000478188 (11:61775184 G>A), RS1000557222 (11:61763386 C>T), RS1000636503 (11:61782241 C>A,T), RS1000736421 (11:61774877 C>T), RS1000754972 (11:61789019 T>A,C), RS1000955626 (11:61754068 G>A), RS1000987448 (11:61782644 G>A,T), RS1001069074 (11:61760191 A>C), RS1001207069 (11:61759586 C>T), RS1001280833 (11:61759913 T>C), RS1001445514 (11:61764130 G>C,T)
Disease associations
OMIM: gene MIM:608329 | disease phenotypes: MIM:618113, MIM:618280, MIM:600165, MIM:142340, MIM:236750
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| cardiac-urogenital syndrome | Strong | Autosomal dominant |
| hyperopia | Strong | Autosomal dominant |
| encephalitis/encephalopathy, mild, with reversible myelin vacuolization | Limited | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| cardiac-urogenital syndrome | Definitive | AD |
Mondo (12): encephalitis/encephalopathy, mild, with reversible myelin vacuolization (MONDO:0020853), cardiac-urogenital syndrome (MONDO:0032653), disorder of sexual differentiation (MONDO:0002145), scimitar syndrome (MONDO:0015987), prostate cancer (MONDO:0008315), neurodevelopmental disorder (MONDO:0700092), nanophthalmos 1 (MONDO:0010836), congenital diaphragmatic hernia (MONDO:0005711), urogenital tract malformation (MONDO:0019356), non-immune hydrops fetalis (MONDO:0009369), dextrocardia (MONDO:0015661), hyperopia (MONDO:0004891)
Orphanet (9): Cardiac-urogenital syndrome (Orphanet:647811), Difference of sex development (Orphanet:90771), Scimitar syndrome (Orphanet:185), Familial prostate cancer (Orphanet:1331), Nanophthalmos (Orphanet:35612), Congenital diaphragmatic hernia (Orphanet:2140), Urogenital tract malformation (Orphanet:83001), Non-immune hydrops fetalis (Orphanet:363999), Dextrocardia (Orphanet:1666)
HPO phenotypes
44 total (30 of 44 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000048 | Bifid scrotum |
| HP:0000054 | Micropenis |
| HP:0000062 | Ambiguous genitalia |
| HP:0000105 | Enlarged kidney |
| HP:0000151 | Aplasia of the uterus |
| HP:0000431 | Wide nasal bridge |
| HP:0000776 | Congenital diaphragmatic hernia |
| HP:0000808 | Penoscrotal hypospadias |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001270 | Motor delay |
| HP:0001629 | Ventricular septal defect |
| HP:0001631 | Atrial septal defect |
| HP:0001636 | Tetralogy of Fallot |
| HP:0001643 | Patent ductus arteriosus |
| HP:0001649 | Tachycardia |
| HP:0001651 | Dextrocardia |
| HP:0001698 | Pericardial effusion |
| HP:0001747 | Accessory spleen |
| HP:0002089 | Pulmonary hypoplasia |
| HP:0002566 | Intestinal malrotation |
| HP:0002779 | Tracheomalacia |
| HP:0002780 | Bronchomalacia |
| HP:0003010 | Prolonged bleeding time |
| HP:0003621 | Juvenile onset |
| HP:0004383 | Hypoplastic left ventricle |
| HP:0004691 | 2-3 toe syndactyly |
| HP:0006846 | Acute encephalopathy |
GWAS associations
142 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001178_6 | Plasma omega-3 polyunsaturated fatty acid level (eicosapentaenoic acid) | 6.000000e-58 |
| GCST001179_1 | Plasma omega-3 polyunsaturated fatty acid levels (docosapentaenoic acid) | 1.000000e-151 |
| GCST001180_3 | Plasma omega-3 polyunsaturated fatty acid levels (alphalinolenic acid) | 1.000000e-63 |
| GCST001725_11 | Inflammatory bowel disease | 2.000000e-15 |
| GCST001834_5 | Oleic acid (18:1n-9) levels | 2.000000e-32 |
| GCST001841_1 | Palmitoleic acid (16:1n-7) levels | 7.000000e-13 |
| GCST002444_5 | Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid) | 5.000000e-168 |
| GCST002446_1 | Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid) | 4.000000e-274 |
| GCST002446_7 | Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid) | 3.000000e-21 |
| GCST002448_6 | Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid) | 4.000000e-140 |
| GCST002449_6 | Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid) | 0.000000e+00 |
| GCST002449_8 | Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid) | 7.000000e-147 |
| GCST002450_8 | Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) | 2.000000e-72 |
| GCST002454_8 | Colorectal cancer | 9.000000e-21 |
| GCST002457_3 | P wave duration | 3.000000e-08 |
| GCST002712_12 | Red blood cell fatty acid levels | 2.000000e-12 |
| GCST002712_2 | Red blood cell fatty acid levels | 8.000000e-90 |
| GCST002712_3 | Red blood cell fatty acid levels | 1.000000e-09 |
| GCST002712_4 | Red blood cell fatty acid levels | 3.000000e-305 |
| GCST002712_7 | Red blood cell fatty acid levels | 3.000000e-19 |
| GCST002712_8 | Red blood cell fatty acid levels | 2.000000e-10 |
| GCST002712_9 | Red blood cell fatty acid levels | 6.000000e-43 |
| GCST003818_34 | Resting heart rate | 2.000000e-30 |
| GCST004132_88 | Crohn’s disease | 9.000000e-07 |
| GCST004139_2 | Bipolar disorder | 1.000000e-10 |
| GCST004139_22 | Bipolar disorder | 6.000000e-09 |
| GCST004571_28 | Iron status biomarkers (total iron binding capacity) | 5.000000e-08 |
| GCST004572_9 | Iron status biomarkers (transferrin saturation) | 5.000000e-08 |
| GCST004601_157 | Red blood cell count | 4.000000e-21 |
| GCST004602_195 | Mean corpuscular volume | 7.000000e-11 |
EFO canonical traits (31, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007760 | eicosapentaenoic acid measurement |
| EFO:0006809 | docosapentaenoic acid measurement |
| EFO:0007759 | alpha-linolenic acid measurement |
| EFO:0005680 | omega-6 polyunsaturated fatty acid measurement |
| EFO:0005094 | P wave duration |
| EFO:0006810 | oleic acid measurement |
| EFO:0006808 | arachidonic acid measurement |
| EFO:0006807 | linoleic acid measurement |
| EFO:0006811 | linolenic acid measurement |
| EFO:0006334 | total iron binding capacity |
| EFO:0004305 | erythrocyte count |
| EFO:0004348 | hematocrit |
| EFO:0004509 | hemoglobin measurement |
| EFO:0007986 | reticulocyte count |
| EFO:0007764 | delta-5 desaturase measurement |
| EFO:0009131 | response to polyunsaturated fatty acid supplementation |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0009594 | irritability measurement |
| EFO:0009270 | heel bone mineral density |
| EFO:0003924 | hair color |
| EFO:1002011 | adult onset asthma |
| EFO:0009963 | bipolar I disorder |
| EFO:0004469 | HOMA-B |
| EFO:0010382 | phosphatidylcholine 36:4 measurement |
| EFO:0010118 | sphingomyelin measurement |
| EFO:0005059 | acylcarnitine measurement |
| EFO:0006944 | systolic blood pressure change measurement |
| EFO:0010119 | omega-3 polyunsaturated fatty acid measurement |
| EFO:0004346 | neuroimaging measurement |
MeSH disease descriptors (8)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D003914 | Dextrocardia | C14.240.400.280; C14.280.400.280; C16.131.240.400.280; C16.131.810.250 |
| D012734 | Disorders of Sex Development | C12.050.351.875.253; C12.200.706.316; C12.800.316; C16.131.939.316; C19.391.119 |
| D065630 | Hernias, Diaphragmatic, Congenital | C16.131.433; C23.300.707.960.500.116 |
| D006956 | Hyperopia | C11.744.479 |
| D065886 | Neurodevelopmental Disorders | F03.625 |
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
| D012587 | Scimitar Syndrome | C08.381.844; C08.695.815; C14.240.850.968; C14.907.780; C16.131.240.850.937; C16.131.740.815 |
| C563983 | Nanophthalmos 1 (supp.) |
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 |
|---|---|---|
| Acetaminophen | decreases expression | 2 |
| Benzo(a)pyrene | increases methylation, increases expression | 2 |
| Cisplatin | increases expression, affects response to substance, affects cotreatment | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| FR900359 | decreases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| methyleugenol | increases expression | 1 |
| bisphenol A | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Capecitabine | increases response to substance | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Lead | affects methylation | 1 |
| Methapyrilene | increases methylation | 1 |
| Niclosamide | increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Triclosan | increases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Vitamin K 3 | affects expression | 1 |
| Particulate Matter | increases abundance, increases expression | 1 |
Clinical trials (associated diseases)
422 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00347204 | PHASE4 | COMPLETED | Comparison of Acular LS Versus Nevanac for Pain Control in Eyes Undergoing PRK |
| NCT00455455 | PHASE4 | COMPLETED | Corneal and Conjunctival Sensitivity and Staining Study |
| NCT00937105 | PHASE4 | COMPLETED | Daily Wear Corneal Infiltrative Event Study |
| NCT01387360 | PHASE4 | COMPLETED | Presbyopic Supracor Treatment for Near Myopic/Hyperopic Pseudophakic Eyes |
| NCT01977807 | PHASE4 | UNKNOWN | A Prospective Safety and Effectiveness Study of the 500 Hz Technolas Perfect Vision Excimer Laser in Asian Eyes Using LASIK |
| NCT02071576 | PHASE4 | UNKNOWN | A Prospective Safety and Effectiveness Study of the 500 Hz Technolas Perfect Vision Excimer Laser Using LASIK |
| NCT02112968 | PHASE4 | UNKNOWN | A Prospective Safety and Effectiveness Study of a New High Repetition Rate Excimer Laser Using LASIK for the Correction of Ammetropia and Presbyopia |
| NCT03881670 | PHASE4 | COMPLETED | On-Eye Optical Quality of Lotrafilcon B Lenses Over 12 Hours |
| NCT04208750 | PHASE4 | COMPLETED | Clinical Investigation of the Vision-R800 Device. |
| NCT04283331 | PHASE4 | UNKNOWN | Anesthetic Impregnated Bandage Soft Contact Lens (BSCL) in Pain Management After Photorefractive Keratectomy (PRK) |
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
Related Atlas pages
- Associated diseases: encephalitis/encephalopathy, mild, with reversible myelin vacuolization, cardiac-urogenital syndrome, hyperopia
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): alopecia, ankylosing spondylitis, cardiac-urogenital syndrome, colorectal adenoma, congenital diaphragmatic hernia, Crohn disease, dextrocardia, disorder of sexual differentiation, encephalitis/encephalopathy, mild, with reversible myelin vacuolization, hyperopia, inflammatory bowel disease, nanophthalmos 1, nasal cavity polyp, non-immune hydrops fetalis, prostate cancer, psoriasis, scimitar syndrome, sclerosing cholangitis, ulcerative colitis, urogenital tract malformation