| Tbio | E3 ubiquitin-protein ligase PDZRN3 |
E3 ubiquitin-protein ligase. Plays an important role in regulating the surface level of MUSK on myotubes. Mediates the ubiquitination of MUSK, promoting its endocytosis and lysosomal degradation. Might contribute to terminal myogenic differentiation (By similarity).
This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted for degradation by the human papilloma virus E6 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted for degradation by the human papilloma virus E6 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Comments
| Disease | Target Count |
|---|---|
| Schizophrenia, Childhood | 16 |
| Disease | Target Count | P-value |
|---|---|---|
| breast carcinoma | 1614 | 8.6e-21 |
| malignant mesothelioma | 3163 | 8.4e-08 |
| lung adenocarcinoma | 2714 | 2.6e-07 |
| group 4 medulloblastoma | 1875 | 5.8e-06 |
| psoriasis | 6685 | 6.1e-05 |
| ovarian cancer | 8491 | 6.6e-05 |
| lung cancer | 4473 | 1.8e-04 |
| Atopic dermatitis | 944 | 4.0e-04 |
| pituitary cancer | 1972 | 4.1e-04 |
| intraductal papillary-mucinous adenoma (IPMA) | 2956 | 4.5e-04 |
| invasive ductal carcinoma | 2950 | 4.7e-04 |
| Breast cancer | 3098 | 4.8e-04 |
| adrenocortical carcinoma | 1427 | 5.3e-04 |
| medulloblastoma, large-cell | 6234 | 1.4e-03 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3289 | 1.9e-03 |
| ductal carcinoma in situ | 1745 | 2.7e-03 |
| colon cancer | 1475 | 3.8e-03 |
| acute quadriplegic myopathy | 1157 | 4.3e-03 |
| active Crohn's disease | 918 | 6.0e-03 |
| aldosterone-producing adenoma | 664 | 1.8e-02 |
| head and neck cancer | 270 | 1.9e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Chronic obstructive pulmonary disease | 147 | 0.0 | 1.0 |
| Heart conduction disease | 65 | 0.0 | 1.0 |
| Kidney disease | 397 | 0.0 | 1.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Perivascular epithelioid cell tumor | 4 | 3.237 | 1.6 |
| Disease | log2 FC | p |
|---|---|---|
| malignant mesothelioma | -3.700 | 8.4e-08 |
| psoriasis | -1.300 | 6.1e-05 |
| medulloblastoma, large-cell | -3.400 | 1.4e-03 |
| acute quadriplegic myopathy | -1.253 | 4.3e-03 |
| Atopic dermatitis | -1.300 | 4.0e-04 |
| adrenocortical carcinoma | -2.914 | 5.3e-04 |
| intraductal papillary-mucinous adenoma (... | -2.400 | 4.5e-04 |
| intraductal papillary-mucinous neoplasm ... | -2.700 | 1.9e-03 |
| colon cancer | -1.800 | 3.8e-03 |
| lung cancer | -2.300 | 1.8e-04 |
| active Crohn's disease | 1.143 | 6.0e-03 |
| group 4 medulloblastoma | -4.200 | 5.8e-06 |
| aldosterone-producing adenoma | -1.355 | 1.8e-02 |
| lung adenocarcinoma | -1.100 | 2.6e-07 |
| breast carcinoma | -1.200 | 8.6e-21 |
| Breast cancer | -1.400 | 4.8e-04 |
| ductal carcinoma in situ | -1.500 | 2.7e-03 |
| invasive ductal carcinoma | -3.200 | 4.7e-04 |
| ovarian cancer | -2.500 | 6.6e-05 |
| pituitary cancer | -1.700 | 4.1e-04 |
| head and neck cancer | -1.600 | 1.9e-02 |
| PMID | Text | |
|---|---|---|
| 25355882 | Authors show that HPV-16 and HPV-18 E6 can target PDZRN3 in a PDZ- and proteasome-dependent manner and provide a connection between the papillomavirus life cycle and differentiation-related STAT signaling. | |
| 22609016 | a novel partner of Kidins220/ARMS | |
| 20668165 | These results indicate that PDZRN3 plays an important role in negative feedback control of BMP-2-induced osteoblast differentiation in C2C12 cells through inhibition of Wnt3a-beta-catenin signaling. | |
| 20379614 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | |
| 20306291 | Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) |
MGFELDRFDGDVDPDLKCALCHKVLEDPLTTPCGHVFCAGCVLPWVVQEGSCPARCRGRLSAKELNHVLP 1 - 70 LKRLILKLDIKCAYATRGCGRVVKLQQLPEHLERCDFAPARCRHAGCGQVLLRRDVEAHMRDACDARPVG 71 - 140 RCQEGCGLPLTHGEQRAGGHCCARALRAHNGALQARLGALHKALKKEALRAGKREKSLVAQLAAAQLELQ 141 - 210 MTALRYQKKFTEYSARLDSLSRCVAAPPGGKGEETKSLTLVLHRDSGSLGFNIIGGRPSVDNHDGSSSEG 211 - 280 IFVSKIVDSGPAAKEGGLQIHDRIIEVNGRDLSRATHDQAVEAFKTAKEPIVVQVLRRTPRTKMFTPPSE 281 - 350 SQLVDTGTQTDITFEHIMALTKMSSPSPPVLDPYLLPEEHPSAHEYYDPNDYIGDIHQEMDREELELEEV 351 - 420 DLYRMNSQDKLGLTVCYRTDDEDDIGIYISEIDPNSIAAKDGRIREGDRIIQINGIEVQNREEAVALLTS 421 - 490 EENKNFSLLIARPELQLDEGWMDDDRNDFLDDLHMDMLEEQHHQAMQFTASVLQQKKHDEDGGTTDTATI 491 - 560 LSNQHEKDSGVGRTDESTRNDESSEQENNGDDATASSNPLAGQRKLTCSQDTLGSGDLPFSNESFISADC 561 - 630 TDADYLGIPVDECERFRELLELKCQVKSATPYGLYYPSGPLDAGKSDPESVDKELELLNEELRSIELECL 631 - 700 SIVRAHKMQQLKEQYRESWMLHNSGFRNYNTSIDVRRHELSDITELPEKSDKDSSSAYNTGESCRSTPLT 701 - 770 LEISPDNSLRRAAEGISCPSSEGAVGTTEAYGPASKNLLSITEDPEVGTPTYSPSLKELDPNQPLESKER 771 - 840 RASDGSRSPTPSQKLGSAYLPSYHHSPYKHAHIPAHAQHYQSYMQLIQQKSAVEYAQSQMSLVSMCKDLS 841 - 910 SPTPSEPRMEWKVKIRSDGTRYITKRPVRDRLLRERALKIREERSGMTTDDDAVSEMKMGRYWSKEERKQ 911 - 980 HLVKAKEQRRRREFMMQSRLDCLKEQQAADDRKEMNILELSHKKMMKKRNKKIFDNWMTIQELLTHGTKS 981 - 1050 PDGTRVYNSFLSVTTV 1051 - 1066 //
| PMID | Year | Title | |
|---|---|---|---|
| 25355882 | 2015 | PDZRN3/LNX3 is a novel target of human papillomavirus type 16 (HPV-16) and HPV-18 E6. | |
| 25198863 | 2014 | The ubiquitin ligase PDZRN3 is required for vascular morphogenesis through Wnt/planar cell polarity signalling. | |
| 23576576 | 2013 | Regulation of adipocyte differentiation of 3T3-L1 cells by PDZRN3. | |
| 23166209 | 2012 | Impact of ancestry and common genetic variants on QT interval in African Americans. | |
| 22664479 | 2013 | A genome-wide association study for irinotecan-related severe toxicities in patients with advanced non-small-cell lung cancer. | |
| 22609016 | 2012 | Kidins220/ARMS interacts with Pdzrn3, a protein containing multiple binding domains. | |
| 22290856 | 2012 | 3p interstitial deletion: novel case report and review. | |
| 21827680 | 2011 | Molecular evolution of the LNX gene family. | |
| 21546767 | 2011 | Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. | |
| 20668165 | 2010 | PDZRN3 negatively regulates BMP-2-induced osteoblast differentiation through inhibition of Wnt signaling. | |
| 20379614 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | ||
| 20306291 | 2010 | A three-stage genome-wide association study of general cognitive ability: hunting the small effects. | |
| 17974005 | 2007 | The full-ORF clone resource of the German cDNA Consortium. | |
| 17118964 | 2006 | PDZRN3 (LNX3, SEMCAP3) is required for the differentiation of C2C12 myoblasts into myotubes. | |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). | |
| 15458844 | 2004 | The complexity of PDZ domain-mediated interactions at glutamatergic synapses: a case study on neuroligin. | |
| 15305371 | 2004 | Gene expression profiles in primary ovarian serous papillary tumors and normal ovarian epithelium: identification of candidate molecular markers for ovarian cancer diagnosis and therapy. | |
| 15188402 | 2004 | Proteins associated with type II bone morphogenetic protein receptor (BMPR-II) and identified by two-dimensional gel electrophoresis and mass spectrometry. | |
| 15010864 | 2004 | Identification and characterization of PDZRN3 and PDZRN4 genes in silico. | |
| 14702039 | 2004 | Complete sequencing and characterization of 21,243 full-length human cDNAs. | |
| 12477932 | 2002 | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | |
| 10470851 | 1999 | Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. |
