MAGI2
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Also known as AIP1ARIP1KIAA0705ACVRIP1MAGI-2
Summary
MAGI2 (membrane associated guanylate kinase, WW and PDZ domain containing 2, HGNC:18957) is a protein-coding gene on chromosome 7q21.11, encoding Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 (Q86UL8). Seems to act as a scaffold molecule at synaptic junctions by assembling neurotransmitter receptors and cell adhesion proteins.
The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family.
Source: NCBI Gene 9863 — RefSeq curated summary.
At a glance
- Gene–disease (curated): nephrotic syndrome 15 (Strong, GenCC) — +3 more curated relationships
- GWAS associations: 40
- Clinical variants (ClinVar): 656 total — 6 pathogenic, 8 likely-pathogenic
- Phenotypes (HPO): 20
- MANE Select transcript:
NM_012301
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18957 |
| Approved symbol | MAGI2 |
| Name | membrane associated guanylate kinase, WW and PDZ domain containing 2 |
| Location | 7q21.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2 |
| Ensembl gene | ENSG00000187391 |
| Ensembl biotype | protein_coding |
| OMIM | 606382 |
| Entrez | 9863 |
Gene structure
Transcript identifiers
Ensembl transcripts: 41 — 19 protein_coding_CDS_not_defined, 18 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay
ENST00000354212, ENST00000419488, ENST00000440555, ENST00000519748, ENST00000520379, ENST00000522342, ENST00000522391, ENST00000524268, ENST00000524316, ENST00000626691, ENST00000628361, ENST00000628781, ENST00000628997, ENST00000629359, ENST00000630991, ENST00000634996, ENST00000635863, ENST00000635961, ENST00000636039, ENST00000636040, ENST00000636178, ENST00000636234, ENST00000636424, ENST00000636593, ENST00000636717, ENST00000636936, ENST00000636989, ENST00000636993, ENST00000637074, ENST00000637136, ENST00000637249, ENST00000637282, ENST00000637441, ENST00000637486, ENST00000637515, ENST00000637585, ENST00000637728, ENST00000637824, ENST00000637879, ENST00000637976, ENST00000676103
RefSeq mRNA: 2 — MANE Select: NM_012301
NM_001301128, NM_012301
CCDS: CCDS5594, CCDS75623
Canonical transcript exons
ENST00000354212 — 22 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001021144 | 78078947 | 78079085 |
| ENSE00001205406 | 78521430 | 78521645 |
| ENSE00001303965 | 79007090 | 79007206 |
| ENSE00001330729 | 78501577 | 78501787 |
| ENSE00001597225 | 79453020 | 79453667 |
| ENSE00003485835 | 78194874 | 78195063 |
| ENSE00003514874 | 78489761 | 78489840 |
| ENSE00003524896 | 78369156 | 78369213 |
| ENSE00003529450 | 78132889 | 78133060 |
| ENSE00003541745 | 78125694 | 78125837 |
| ENSE00003542108 | 78185629 | 78185670 |
| ENSE00003543935 | 78127197 | 78127416 |
| ENSE00003556812 | 78345922 | 78346043 |
| ENSE00003575979 | 78135021 | 78135206 |
| ENSE00003603486 | 78627120 | 78627239 |
| ENSE00003608927 | 78343778 | 78343960 |
| ENSE00003611156 | 78201162 | 78201193 |
| ENSE00003629425 | 78255943 | 78256581 |
| ENSE00003629946 | 78167916 | 78168108 |
| ENSE00003660829 | 78178011 | 78178102 |
| ENSE00003683137 | 78160025 | 78160273 |
| ENSE00003850706 | 78017055 | 78019976 |
Expression profiles
Bgee: expression breadth ubiquitous, 267 present calls, max score 97.59.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.7553 / max 631.5590, expressed in 1188 samples.
FANTOM5 promoters (17 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 84504 | 3.1489 | 826 |
| 84506 | 2.7145 | 766 |
| 84491 | 1.2845 | 212 |
| 84481 | 1.2476 | 161 |
| 84489 | 1.1118 | 170 |
| 84502 | 0.8861 | 305 |
| 84503 | 0.8083 | 345 |
| 84488 | 0.4275 | 97 |
| 84480 | 0.2602 | 88 |
| 84478 | 0.2386 | 88 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 97.59 | gold quality |
| corpus callosum | UBERON:0002336 | 96.88 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.76 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 96.15 | gold quality |
| renal glomerulus | UBERON:0000074 | 95.97 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 95.96 | gold quality |
| adrenal tissue | UBERON:0018303 | 95.20 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 94.38 | gold quality |
| parietal lobe | UBERON:0001872 | 93.94 | gold quality |
| entorhinal cortex | UBERON:0002728 | 93.93 | gold quality |
| postcentral gyrus | UBERON:0002581 | 93.87 | gold quality |
| primary visual cortex | UBERON:0002436 | 93.72 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 93.64 | gold quality |
| occipital lobe | UBERON:0002021 | 93.59 | gold quality |
| sural nerve | UBERON:0015488 | 93.17 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 93.00 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 92.69 | gold quality |
| cranial nerve II | UBERON:0000941 | 92.66 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 92.35 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 92.04 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 91.89 | gold quality |
| medulla oblongata | UBERON:0001896 | 91.80 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 91.65 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 91.65 | gold quality |
| ventricular zone | UBERON:0003053 | 91.61 | gold quality |
| temporal lobe | UBERON:0001871 | 91.37 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 91.12 | gold quality |
| globus pallidus | UBERON:0001875 | 91.05 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 90.64 | gold quality |
| ventral tegmental area | UBERON:0002691 | 90.63 | gold quality |
Single-cell (SCXA)
Detected in 9 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-131882 | yes | 44025.04 |
| E-CURD-119 | yes | 41522.65 |
| E-CURD-135 | yes | 2112.81 |
| E-HCAD-35 | yes | 91.85 |
| E-HCAD-10 | yes | 20.48 |
| E-ANND-3 | yes | 9.91 |
| E-GEOD-93593 | no | 282.88 |
| E-MTAB-7381 | no | 175.87 |
| E-MTAB-7303 | no | 129.63 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ZNF699
miRNA regulators (miRDB)
99 targeting MAGI2, 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-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| 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-9718 | 99.94 | 68.91 | 918 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
Literature-anchored findings (GeneRIF, showing 32)
- PTEN plays a critical role in MAGI-2-induced inhibition of cell migration and proliferation in human hepatocarcinoma cells (PMID:17880912)
- Interstitial deletions that include the MAGI2 gene on chromosome 7q11.23-q.21.11 are associated with IS cases. (PMID:18565486)
- MAGI2 genetic variation is associated with inflammatory bowel disease. (PMID:18720471)
- Data show that AIP1 is a novel GTPase-activating protein for Arf6, a small GTPase regulating cellular PIP(2) production and formation of the TLR4-TIRAP-MyD88 complex. (PMID:19948740)
- analysis of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2 [case report] (PMID:20101691)
- there was no association of MAGI2 and PARD3 with IBD. (PMID:21515326)
- Results presented herein provide further evidence for a role of MAGI2 in bipolar affective disorder and schizophrenia etiology. (PMID:22381734)
- Common variants in MAGI2 gene are associated with increased risk for cognitive impairment in schizophrenic patients. (PMID:22649501)
- MAGI2 enhances the sensitivity of BEL-7404 human hepatocellular carcinoma cells to staurosporine-induced apoptosis by increasing PTEN stability. (PMID:23754155)
- Data show that the miR-134/487b/655 cluster regulates TGF-beta1-induced epithelial-mesenchymal transition and affected the resistance to gefitinib by directly targeting membrane-associated guanylate kinase, WW, and PDZ domain-containing protein 2 (MAGI2). (PMID:24258346)
- In Usher syndrome 1G, mutations in SANS eliminate Magi2 binding and thereby deregulate endocytosis, lead to defective ciliary transport modules and ultimately disrupt photoreceptor cell function inducing retinal degeneration. (PMID:24608321)
- The expression of MAGI2 mRNA was significantly down-regulated in PC3, LNCaP and DU-145 PCa cell lines. (PMID:24985972)
- MAGI2, SERPINE2, and NT5C3B expression levels are associated with airway wall thickening and additionally with bronchial inflammation, emphysema, and lung function, respectively, all features of chronic obstructive pulmonary disease. (PMID:25517131)
- MAGI-2 immunoreactivity is elevated in prostate cancer and high-grade prostatic intraepithelial neoplasia compared with normal tissue, suggesting that MAGI-2 may contribute to prostate carcinogenesis. (PMID:26980016)
- MAGI-2 could represent a useful adjunct for diagnosis of prostatic adenocarcinoma (PMID:27543977)
- Immunohistochemistry in kidney sections from these patients revealed that mutations resulted in lack of or diminished podocyte MAGI2 expression. Our data support the finding that mutations in the MAGI2 gene are causal for congenital steroid-resistant nephrotic syndrome (PMID:27932480)
- MAGI2 expression is reduced during prostate cancer progression and that retention of MAGI2 signal reduces odds of biochemical recurrence. Decreased MAGI2 expression may help predict prostate cancer aggressiveness. (PMID:29542165)
- MAGI2-AS3 plays an important role as a tumour suppressor by targeting Fas and FasL signalling. (PMID:29679339)
- MAGI2 gene polymorphism rs2160322 is associated with Graves’ disease and not with Hashimoto’s thyroiditis. (PMID:30535759)
- Disruption of MAGI2-RapGEF2-Rap1 signaling contributes to podocyte dysfunction in congenital nephrotic syndrome caused by mutations in MAGI2. (PMID:31171376)
- LncRNA MAGI2-AS3 is downregulated in non-small cell lung cancer and may be a sponge of miR-25. (PMID:32138716)
- MAGI-2 downregulation: a potential predictor of tumor progression and early recurrence in Han Chinese patients with prostate cancer. (PMID:32167077)
- HIST1H2BB and MAGI2 Methylation and Somatic Mutations as Precision Medicine Biomarkers for Diagnosis and Prognosis of High-grade Serous Ovarian Cancer. (PMID:32581010)
- MAGI2-AS3 inhibits breast cancer by downregulating DNA methylation of MAGI2. (PMID:32730644)
- Polymorphism in the MAGI2 Gene Modifies the Effect of Amyloid beta on Neurodegeneration. (PMID:33323781)
- Comparative study of immunohistochemical expression of ERG and MAGI2 in prostatic carcinoma. (PMID:33713943)
- Novel insights for lncRNA MAGI2-AS3 in solid tumors. (PMID:33761624)
- GLIDR promotes the progression of glioma by regulating the miR-4677-3p/MAGI2 axis. (PMID:34237299)
- Genetic variants of SDCCAG8 and MAGI2 in mitosis-related pathway genes are independent predictors of cutaneous melanoma-specific survival. (PMID:34375487)
- The TLR4/NF-kappaB/MAGI-2 signaling pathway mediates postoperative delirium. (PMID:35294925)
- LncRNA MAGI2-AS3-Encoded Polypeptide Restrains the Proliferation and Migration of Breast Cancer Cells. (PMID:37358745)
- MAGI2 ameliorates podocyte apoptosis of diabetic kidney disease through communication with TGF-beta-Smad3/nephrin pathway. (PMID:37950637)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | magi2b | ENSDARG00000073769 |
| mus_musculus | Magi2 | ENSMUSG00000040003 |
| rattus_norvegicus | Magi2 | ENSRNOG00000013962 |
Paralogs (6): MAGI3 (ENSG00000081026), GRIP2 (ENSG00000144596), MAGI1 (ENSG00000151276), SAV1 (ENSG00000151748), GRIP1 (ENSG00000155974), MAGIX (ENSG00000269313)
Protein
Protein identifiers
Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 — Q86UL8 (reviewed: Q86UL8)
Alternative names: Atrophin-1-interacting protein 1, Atrophin-1-interacting protein A, Membrane-associated guanylate kinase inverted 2
All UniProt accessions (18): A0A0D9SET0, A0A0D9SEY4, A0A0D9SEZ7, A0A0D9SF86, A0A0D9SFP3, A0A0D9SFY9, A0A0D9SGF2, A0A0D9SGF8, A0A0U1RRH4, A0A1B0GTC0, A0A1B0GTH8, A0A1B0GUF0, A0A1B0GUI9, A0A1B0GUV4, A0A1B0GVS0, A0A1B0GVS6, Q86UL8, E7EWI0
UniProt curated annotations — full annotation on UniProt →
Function. Seems to act as a scaffold molecule at synaptic junctions by assembling neurotransmitter receptors and cell adhesion proteins. Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite outgrowth. May play a role in regulating activin-mediated signaling in neuronal cells. Enhances the ability of PTEN to suppress AKT1 activation. Plays a role in receptor-mediated clathrin-dependent endocytosis which is required for ciliogenesis.
Subunit / interactions. Interacts (via its WW domains) with DRPLA. Interacts (via its second PDZ domain) with PTEN (via unphosphorylated C-terminus); this interaction diminishes the degradation rate of PTEN. Interacts (via guanylate kinase domain) with DLGAP1. Interacts (via the PDZ domains) with GRIN2A, GRID2 and NLGN1. Interacts with CTNND2, CTNNB1, MAGUIN-1, ACVR2A, SMAD2 and SMAD3. Part of a complex consisting of MAGI2/ARIP1, ACVR2A, ACVR1B and SMAD3. May interact with HTR2A. Interacts with IGSF9, RAPGEF2 and HTR4. Identified in a complex with ACTN4, CASK, IQGAP1, NPHS1, SPTAN1 and SPTBN1. Found in a complex, at least composed of KIDINS220, MAGI2, NTRK1 and RAPGEF2; the complex is mainly formed at late endosomes in a NGF-dependent manner. Interacts with RAPGEF2; the interaction occurs before or after nerve growth factor (NGF) stimulation. Interacts (via PDZ domain) with KIDINS220 (via C-terminal domain). Interacts with DDN. Interacts with DLL1. Found in a complex with IGSF9B and NLGN2; the interaction with IGSF9B is mediated via the PDZ 5 and PDZ 6 domains, while the interaction with NLGN2 is mediated via the WW1, WW2 and PDZ2 domains. Interacts (via PDZ 6 domain) with USH1G (via SAM domain); the interaction is triggered by phosphorylation of USH1G by CK2 and negatively regulates MAGI2-mediated endocytosis.
Subcellular location. Cytoplasm. Late endosome. Synapse. Synaptosome. Cell membrane. Cytoskeleton. Microtubule organizing center. Centrosome. Cell projection. Cilium. Centriole. Photoreceptor inner segment. Photoreceptor outer segment.
Tissue specificity. Specifically expressed in brain.
Disease relevance. Nephrotic syndrome 15 (NPHS15) [MIM:617609] A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. NPHS15 is an autosomal recessive form with onset in the first months of life. Disease severity is variable. Some patients show rapid progression to end-stage renal failure. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the MAGUK family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q86UL8-1 | 1 | yes |
| Q86UL8-2 | 2 |
RefSeq proteins (2): NP_001288057, NP_036433* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001202 | WW_dom | Domain |
| IPR001478 | PDZ | Domain |
| IPR008144 | Guanylate_kin-like_dom | Domain |
| IPR008145 | GK/Ca_channel_bsu | Domain |
| IPR020590 | Guanylate_kinase_CS | Conserved_site |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR036020 | WW_dom_sf | Homologous_superfamily |
| IPR036034 | PDZ_sf | Homologous_superfamily |
Pfam: PF00397, PF00595, PF00625, PF16663
UniProt features (87 total): strand 29, sequence conflict 13, compositionally biased region 10, helix 10, domain 9, modified residue 6, region of interest 5, turn 3, chain 1, splice variant 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1UEP | SOLUTION NMR | |
| 1UEQ | SOLUTION NMR | |
| 1UEW | SOLUTION NMR | |
| 1UJV | SOLUTION NMR | |
| 1WFV | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86UL8-F1 | 61.10 | 0.22 |
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 (6): 362, 686, 827, 884, 885, 1014
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-373753 | Nephrin family interactions |
| R-HSA-1500931 | Cell-Cell communication |
MSigDB gene sets: 296 (showing top):
GOBP_SMAD_PROTEIN_SIGNAL_TRANSDUCTION, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, GOBP_EPITHELIAL_CELL_DEVELOPMENT, GOBP_NON_CANONICAL_WNT_SIGNALING_PATHWAY, GOBP_NEUROGENESIS, KEGG_TIGHT_JUNCTION, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_KIDNEY_EPITHELIUM_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_RECEPTOR_MEDIATED_ENDOCYTOSIS, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_UP, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_RESPONSE_TO_NERVE_GROWTH_FACTOR
GO Biological Process (16): positive regulation of receptor internalization (GO:0002092), signal transduction (GO:0007165), nervous system development (GO:0007399), negative regulation of cell population proliferation (GO:0008285), positive regulation of neuron projection development (GO:0010976), negative regulation of cell migration (GO:0030336), negative regulation of activin receptor signaling pathway (GO:0032926), nerve growth factor signaling pathway (GO:0038180), receptor clustering (GO:0043113), negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051898), Wnt signaling pathway, planar cell polarity pathway (GO:0060071), SMAD protein signal transduction (GO:0060395), podocyte development (GO:0072015), clathrin-dependent endocytosis (GO:0072583), cellular response to nerve growth factor stimulus (GO:1990090), endocytosis (GO:0006897)
GO Molecular Function (7): phosphatase binding (GO:0019902), signaling receptor complex adaptor activity (GO:0030159), beta-1 adrenergic receptor binding (GO:0031697), SMAD binding (GO:0046332), type II activin receptor binding (GO:0070699), protein binding (GO:0005515), kinase activity (GO:0016301)
GO Cellular Component (23): photoreceptor outer segment (GO:0001750), photoreceptor inner segment (GO:0001917), nucleus (GO:0005634), cytoplasm (GO:0005737), late endosome (GO:0005770), centrosome (GO:0005813), centriole (GO:0005814), plasma membrane (GO:0005886), cell-cell junction (GO:0005911), bicellular tight junction (GO:0005923), postsynaptic density (GO:0014069), dendrite (GO:0030425), protein-containing complex (GO:0032991), slit diaphragm (GO:0036057), synapse (GO:0045202), perinuclear region of cytoplasm (GO:0048471), ciliary base (GO:0097546), endosome (GO:0005768), cytoskeleton (GO:0005856), cilium (GO:0005929), membrane (GO:0016020), cell projection (GO:0042995), neuron projection (GO:0043005)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Cell-Cell communication | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| microtubule organizing center | 2 |
| intracellular membraneless organelle | 2 |
| regulation of receptor internalization | 1 |
| receptor internalization | 1 |
| positive regulation of receptor-mediated endocytosis | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| system development | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| negative regulation of cellular process | 1 |
| regulation of neuron projection development | 1 |
| neuron projection development | 1 |
| positive regulation of cell projection organization | 1 |
| cell migration | 1 |
| regulation of cell migration | 1 |
| negative regulation of cell motility | 1 |
| activin receptor signaling pathway | 1 |
| regulation of activin receptor signaling pathway | 1 |
| negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 1 |
| neurotrophin signaling pathway | 1 |
| cellular response to nerve growth factor stimulus | 1 |
| plasma membrane | 1 |
| protein localization to membrane | 1 |
| phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 |
| regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 |
| negative regulation of intracellular signal transduction | 1 |
| non-canonical Wnt signaling pathway | 1 |
| cell surface receptor protein serine/threonine kinase signaling pathway | 1 |
| intracellular signaling cassette | 1 |
| podocyte differentiation | 1 |
| glomerular epithelial cell development | 1 |
| receptor-mediated endocytosis | 1 |
| cellular response to growth factor stimulus | 1 |
| response to nerve growth factor | 1 |
| vesicle budding from membrane | 1 |
Protein interactions and networks
STRING
1336 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MAGI2 | PTEN | P60484 | 974 |
| MAGI2 | CACNG2 | Q9Y698 | 912 |
| MAGI2 | NLGN1 | Q8N2Q7 | 877 |
| MAGI2 | RAPGEF2 | Q9Y4G8 | 861 |
| MAGI2 | MAST2 | Q6P0Q8 | 840 |
| MAGI2 | CTNNB1 | P35222 | 809 |
| MAGI2 | NLGN2 | Q8NFZ4 | 800 |
| MAGI2 | TAMALIN | Q7Z6J2 | 769 |
| MAGI2 | MAST1 | Q9Y2H9 | 761 |
| MAGI2 | NLGN3 | Q9NZ94 | 758 |
| MAGI2 | NLGN4X | Q8N0W4 | 731 |
| MAGI2 | NLGN4Y | Q8NFZ3 | 718 |
| MAGI2 | DAG1 | Q14118 | 648 |
| MAGI2 | CTNND2 | Q9UQB3 | 633 |
| MAGI2 | DLGAP1 | P78335 | 625 |
IntAct
1855 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MAGI2 | ADRB1 | psi-mi:“MI:0407”(direct interaction) | 0.830 |
| E | MAGI2 | psi-mi:“MI:0915”(physical association) | 0.710 |
| E | MAGI2 | psi-mi:“MI:0407”(direct interaction) | 0.710 |
| MAGI2 | E | psi-mi:“MI:0915”(physical association) | 0.710 |
| MAGI2 | E | psi-mi:“MI:0407”(direct interaction) | 0.710 |
| TGFA | MAGI2 | psi-mi:“MI:0407”(direct interaction) | 0.620 |
| E6 | MAGI2 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| MAGI2 | E6 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| PTEN | MAGI2 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| MAGI2 | PTEN | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| RPS6KA1 | MAGI2 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| SLC15A5 | MAGI2 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| MAGI2 | SLC15A5 | psi-mi:“MI:0915”(physical association) | 0.610 |
| FZD7 | MAGI2 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| MAGI2 | E6 | psi-mi:“MI:0915”(physical association) | 0.610 |
| MAGI2 | Tax | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| MAGI2 | Tax | psi-mi:“MI:0915”(physical association) | 0.610 |
BioGRID (55): BAI1 (Reconstituted Complex), TTBK1 (Co-fractionation), MAGI2 (Affinity Capture-MS), ERBB4 (Affinity Capture-Western), MAGI2 (Reconstituted Complex), MAGI2 (Affinity Capture-Western), PTEN (Affinity Capture-Western), MAGI2 (Affinity Capture-Western), MAGI2 (Protein-peptide), CRHR1 (Reconstituted Complex), MAGI2 (Two-hybrid), MAGI2 (Two-hybrid), MAGI2 (Two-hybrid), MAGI2 (Two-hybrid), MAGI2 (Two-hybrid)
ESM2 similar proteins: A0A0G2K2P5, A0JNJ1, B1WAP7, G9CGD6, O14640, O75122, O88382, O95049, O97758, P34908, P39447, P51141, P54792, P70175, Q05AS8, Q07157, Q16825, Q5F488, Q5IS48, Q5SGD7, Q5TCQ9, Q5XI81, Q61062, Q62136, Q62728, Q62936, Q6DKE2, Q6P9H4, Q6ZM86, Q812E4, Q86UL8, Q8BMA3, Q8IVH8, Q8JHI3, Q8TDW5, Q920B0, Q924I2, Q925T6, Q92997, Q95168
Diamond homologs: A0A0G2K2P5, A0A8P0N4K0, C5IAW9, F1LW30, O08721, O08722, O08747, O62683, O95049, O95185, O97758, P39447, P57105, Q07157, Q0P5E6, Q13424, Q28626, Q32LE7, Q3T0C9, Q5EBL8, Q5ZIK2, Q61234, Q6NXB2, Q6QA76, Q6R653, Q6UXZ4, Q6ZN44, Q761X5, Q7KRY7, Q7T2Z5, Q80VW5, Q86UL8, Q8IV45, Q8IZJ1, Q8JGT4, Q8K1S2, Q8K1S3, Q8K1S4, Q95168, Q9CZG9
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NLGN2 | “up-regulates activity” | MAGI2 | binding |
| MAGI2 | “up-regulates activity” | DGC | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 123 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Neurexins and neuroligins | 6 | 14.6× | 6e-04 |
| Cardiac conduction | 7 | 9.4× | 8e-04 |
| Neurotransmitter receptors and postsynaptic signal transmission | 7 | 8.7× | 9e-04 |
| Cell-Cell communication | 5 | 8.5× | 1e-02 |
| Muscle contraction | 8 | 7.6× | 8e-04 |
| Transmission across Chemical Synapses | 7 | 6.6× | 4e-03 |
| Neuronal System | 9 | 4.9× | 4e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of synaptic transmission, glutamatergic | 8 | 43.4× | 8e-09 |
| positive regulation of excitatory postsynaptic potential | 5 | 22.9× | 5e-04 |
| learning or memory | 6 | 12.6× | 1e-03 |
| synapse organization | 5 | 12.2× | 5e-03 |
| synapse assembly | 6 | 12.0× | 2e-03 |
| social behavior | 5 | 11.8× | 5e-03 |
| cell-cell adhesion | 11 | 9.7× | 1e-05 |
| calcium ion transmembrane transport | 5 | 9.2× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
656 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 6 |
| Likely pathogenic | 8 |
| Uncertain significance | 363 |
| Likely benign | 144 |
| Benign | 92 |
Top pathogenic / likely-pathogenic (14)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1527367 | GRCh37/hg19 7q11.23-21.11(chr7:77310644-84461089) | Pathogenic |
| 2425793 | NC_000007.13:g.(?77530028)(79082636_?)del | Pathogenic |
| 3011499 | NM_012301.4(MAGI2):c.159_174del (p.Tyr54fs) | Pathogenic |
| 431755 | NM_012301.4(MAGI2):c.3998del (p.Gly1333fs) | Pathogenic |
| 431756 | NM_012301.4(MAGI2):c.64_71del (p.Arg22fs) | Pathogenic |
| 431757 | NM_012301.4(MAGI2):c.3526_3533dup (p.Glu1178fs) | Pathogenic |
| 1683652 | NM_012301.4(MAGI2):c.147del (p.Gly50fs) | Likely pathogenic |
| 253354 | GRCh37/hg19 7q21.11(chr7:77972816-78186999)x1 | Likely pathogenic |
| 253370 | GRCh37/hg19 7q21.11(chr7:77972816-79082129)x1 | Likely pathogenic |
| 3594849 | NM_012301.4(MAGI2):c.2269+2dup | Likely pathogenic |
| 3594897 | NM_012301.4(MAGI2):c.712G>T (p.Glu238Ter) | Likely pathogenic |
| 3594912 | NM_012301.4(MAGI2):c.79C>T (p.Gln27Ter) | Likely pathogenic |
| 4081507 | NM_012301.4(MAGI2):c.1390del (p.Asp464fs) | Likely pathogenic |
| 4847529 | NM_012301.4(MAGI2):c.3567+1G>T | Likely pathogenic |
SpliceAI
5661 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:78078943:GTA:G | donor_loss | 1.0000 |
| 7:78078944:TAC:T | donor_loss | 1.0000 |
| 7:78078945:A:AC | donor_gain | 1.0000 |
| 7:78078946:C:CA | donor_loss | 1.0000 |
| 7:78078946:C:CC | donor_gain | 1.0000 |
| 7:78079082:CTAC:C | acceptor_gain | 1.0000 |
| 7:78079084:ACCT:A | acceptor_loss | 1.0000 |
| 7:78079085:CCTGT:C | acceptor_loss | 1.0000 |
| 7:78079086:C:CA | acceptor_loss | 1.0000 |
| 7:78125837:CCTT:C | acceptor_gain | 1.0000 |
| 7:78125846:T:TC | acceptor_gain | 1.0000 |
| 7:78135019:AC:A | donor_gain | 1.0000 |
| 7:78135019:ACCCT:A | donor_gain | 1.0000 |
| 7:78135020:CC:C | donor_gain | 1.0000 |
| 7:78135020:CCCTC:C | donor_gain | 1.0000 |
| 7:78135062:T:TA | donor_gain | 1.0000 |
| 7:78135202:CACAG:C | acceptor_gain | 1.0000 |
| 7:78135203:ACAG:A | acceptor_gain | 1.0000 |
| 7:78135204:CAG:C | acceptor_gain | 1.0000 |
| 7:78135204:CAGC:C | acceptor_gain | 1.0000 |
| 7:78135207:C:CC | acceptor_gain | 1.0000 |
| 7:78135207:CT:C | acceptor_loss | 1.0000 |
| 7:78160021:TTA:T | donor_loss | 1.0000 |
| 7:78160022:TA:T | donor_loss | 1.0000 |
| 7:78160023:A:AC | donor_gain | 1.0000 |
| 7:78160023:A:C | donor_loss | 1.0000 |
| 7:78160024:C:CT | donor_gain | 1.0000 |
| 7:78160044:AGG:A | donor_gain | 1.0000 |
| 7:78167911:CATA:C | donor_loss | 1.0000 |
| 7:78167912:ATACC:A | donor_loss | 1.0000 |
AlphaMissense
9541 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:78078979:A:G | L1225P | 1.000 |
| 7:78078985:A:G | L1223P | 1.000 |
| 7:78079012:A:T | I1214N | 1.000 |
| 7:78079015:A:G | L1213P | 1.000 |
| 7:78079025:C:G | A1210P | 1.000 |
| 7:78079063:A:C | I1197S | 1.000 |
| 7:78079072:A:C | I1194S | 1.000 |
| 7:78125740:A:G | L1174S | 1.000 |
| 7:78125779:A:T | I1161N | 1.000 |
| 7:78125781:G:C | S1160R | 1.000 |
| 7:78125781:G:T | S1160R | 1.000 |
| 7:78125783:T:G | S1160R | 1.000 |
| 7:78125784:G:C | F1159L | 1.000 |
| 7:78125784:G:T | F1159L | 1.000 |
| 7:78125785:A:G | F1159S | 1.000 |
| 7:78125786:A:G | F1159L | 1.000 |
| 7:78125788:C:T | G1158E | 1.000 |
| 7:78125790:A:C | F1157L | 1.000 |
| 7:78125790:A:T | F1157L | 1.000 |
| 7:78125791:A:G | F1157S | 1.000 |
| 7:78125792:A:G | F1157L | 1.000 |
| 7:78135041:A:G | L1004P | 1.000 |
| 7:78135041:A:T | L1004H | 1.000 |
| 7:78135047:A:T | V1002D | 1.000 |
| 7:78135060:C:G | A998P | 1.000 |
| 7:78135068:A:C | I995S | 1.000 |
| 7:78135068:A:T | I995N | 1.000 |
| 7:78135071:A:G | L994P | 1.000 |
| 7:78135088:G:C | H988Q | 1.000 |
| 7:78135088:G:T | H988Q | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000000249 (7:78713207 C>A), RS1000000520 (7:79281159 C>T), RS1000000780 (7:78154224 A>G), RS1000002077 (7:79026511 G>A,T), RS1000002918 (7:79157293 C>T), RS1000004175 (7:79150779 T>A,G), RS1000004312 (7:78445504 A>T), RS1000006090 (7:78512491 C>A,T), RS1000007627 (7:78413850 G>A,C), RS1000008714 (7:78284394 T>C), RS1000009324 (7:78212120 T>C), RS1000010338 (7:79072052 C>T), RS1000011058 (7:78592653 C>G,T), RS1000011693 (7:78196066 C>T), RS1000012318 (7:78839645 C>T)
Disease associations
OMIM: gene MIM:606382 | disease phenotypes: MIM:617609, MIM:181500
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| nephrotic syndrome 15 | Strong | Autosomal recessive |
| familial idiopathic steroid-resistant nephrotic syndrome | Supportive | Autosomal dominant |
| genetic developmental and epileptic encephalopathy | Limited | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| epilepsy | Refuted | AD |
Mondo (5): nephrotic syndrome 15 (MONDO:0033262), prostate cancer (MONDO:0008315), schizophrenia (MONDO:0005090), familial idiopathic steroid-resistant nephrotic syndrome (MONDO:0019006), genetic developmental and epileptic encephalopathy (MONDO:0100062)
Orphanet (2): Familial prostate cancer (Orphanet:1331), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140)
HPO phenotypes
20 total (21 of 20 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000093 | Proteinuria |
| HP:0000097 | Focal segmental glomerulosclerosis |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000737 | Irritability |
| HP:0000969 | Edema |
| HP:0001945 | Fever |
| HP:0001967 | Diffuse mesangial sclerosis |
| HP:0002027 | Abdominal pain |
| HP:0002315 | Headache |
| HP:0002586 | Peritonitis |
| HP:0003073 | Hypoalbuminemia |
| HP:0003593 | Infantile onset |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0011947 | Respiratory tract infection |
| HP:0012579 | Minimal change glomerulonephritis |
| HP:0012588 | Steroid-resistant nephrotic syndrome |
| HP:0012622 | Chronic kidney disease |
| HP:0031504 | Foamy urine |
| HP:0100539 | Periorbital edema |
| HP:0100753 | Schizophrenia |
GWAS associations
40 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000461_4 | Hippocampal atrophy | 3.000000e-06 |
| GCST001308_7 | Response to anti-depressant treatment in major depressive disorder | 3.000000e-06 |
| GCST001693_8 | Acute lymphoblastic leukemia (childhood) | 5.000000e-06 |
| GCST001762_274 | Obesity-related traits | 3.000000e-06 |
| GCST002104_21 | Bronchopulmonary dysplasia | 6.000000e-06 |
| GCST002667_5 | Mammographic density (dense area) | 2.000000e-06 |
| GCST002783_195 | Body mass index | 2.000000e-06 |
| GCST002783_350 | Body mass index | 2.000000e-07 |
| GCST002794_1 | Airway wall thickness | 6.000000e-07 |
| GCST002794_17 | Airway wall thickness | 2.000000e-06 |
| GCST002794_7 | Airway wall thickness | 1.000000e-06 |
| GCST002831_9 | Lead levels in blood | 4.000000e-06 |
| GCST003542_193 | Night sleep phenotypes | 8.000000e-06 |
| GCST004862_81 | Itch intensity from mosquito bite adjusted by bite size | 3.000000e-06 |
| GCST004904_38 | Body mass index | 8.000000e-10 |
| GCST004946_51 | Schizophrenia | 4.000000e-08 |
| GCST005024_9 | Pursuit maintenance gain | 1.000000e-06 |
| GCST005173_67 | Coronary artery calcified atherosclerotic plaque (130 HU threshold) in type 2 diabetes | 3.000000e-07 |
| GCST005175_55 | Coronary artery calcified atherosclerotic plaque (90 or 130 HU threshold) in type 2 diabetes | 1.000000e-07 |
| GCST006137_14 | Serum folate levels | 9.000000e-06 |
| GCST006151_2 | Memory dysfunction in frontotemporal lobe dementia | 5.000000e-06 |
| GCST007201_11 | Schizophrenia | 3.000000e-06 |
| GCST007325_13 | General risk tolerance (MTAG) | 8.000000e-09 |
| GCST007576_177 | Chronotype | 9.000000e-09 |
| GCST008473_45 | Visceral fat | 6.000000e-06 |
| GCST008521_26 | Bitter beverage consumption | 6.000000e-07 |
| GCST009028_54 | Adverse response to drug | 8.000000e-08 |
| GCST009359_1 | LDL cholesterol levels x short total sleep time interaction (1df test) | 2.000000e-06 |
| GCST009365_3 | LDL cholesterol levels x short total sleep time interaction (2df test) | 3.000000e-09 |
| GCST009365_7 | LDL cholesterol levels x short total sleep time interaction (2df test) | 3.000000e-11 |
EFO canonical traits (20, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005039 | hippocampal atrophy |
| EFO:0006322 | antidepressant-induced sexual dysfunction |
| EFO:0003940 | physical activity |
| EFO:0005941 | mammographic density measurement |
| EFO:0006503 | dense area measurement |
| EFO:0004340 | body mass index |
| EFO:0006898 | airway wall thickness measurement |
| EFO:0008377 | mosquito bite reaction itch intensity measurement |
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0008433 | pursuit maintenance gain measurement |
| EFO:0004723 | coronary artery calcification |
| EFO:0001072 | memory impairment |
| EFO:0008579 | risk-taking behaviour |
| EFO:0008328 | chronotype measurement |
| EFO:0010089 | bitter beverage consumption measurement |
| EFO:0009658 | adverse effect |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0010368 | lysophosphatidylethanolamine 18:1 measurement |
| EFO:0009819 | comparative body size at age 10, self-reported |
| EFO:0004574 | total cholesterol measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| 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 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases methylation | 8 |
| Benzo(a)pyrene | increases mutagenesis, affects methylation, decreases expression, decreases methylation | 5 |
| Aflatoxin B1 | decreases expression, decreases methylation, increases methylation | 4 |
| bisphenol A | decreases methylation, increases expression, affects methylation, affects cotreatment | 2 |
| belinostat | increases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Nickel | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| bisphenol F | affects cotreatment, decreases methylation | 1 |
| tungsten carbide | affects binding, decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| arsenite | increases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | affects methylation | 1 |
| cobaltous chloride | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| didecyldimethylammonium | increases expression | 1 |
| N-acetyl-4-benzoquinoneimine | affects response to substance | 1 |
| aflatoxin B2 | increases methylation | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D9IZ | Ubigene HEK293 MAGI2 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
312 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| 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 |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
- Associated diseases: nephrotic syndrome 15, familial idiopathic steroid-resistant nephrotic syndrome, genetic developmental and epileptic encephalopathy, epilepsy
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): acute lymphoblastic leukemia, bronchopulmonary dysplasia, familial idiopathic steroid-resistant nephrotic syndrome, genetic developmental and epileptic encephalopathy, nephrotic syndrome 15, nicotine dependence, vision disorder