| Tbio | Cysteine-rich PDZ-binding protein |
Involved in the cytoskeletal anchoring of DLG4 in excitatory synapses.
This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [provided by RefSeq, Jun 2014]
This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [provided by RefSeq, Jun 2014]
Comments
| Disease | Target Count |
|---|---|
| PITUITARY DWARFISM I | 6 |
| Disease | Target Count | P-value |
|---|---|---|
| lung carcinoma | 2844 | 7.2e-14 |
| malignant mesothelioma | 3163 | 1.0e-05 |
| medulloblastoma, large-cell | 6234 | 1.3e-05 |
| hepatocellular carcinoma | 550 | 5.6e-05 |
| tuberculosis and treatment for 6 months | 686 | 2.3e-04 |
| intraductal papillary-mucinous adenoma (IPMA) | 2956 | 3.0e-03 |
| ovarian cancer | 8491 | 5.0e-03 |
| intraductal papillary-mucinous carcinoma (IPMC) | 2988 | 5.3e-03 |
| pancreatic cancer | 2300 | 6.0e-03 |
| pancreatic carcinoma | 567 | 6.0e-03 |
| osteosarcoma | 7933 | 6.4e-03 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3289 | 2.4e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| 3-M syndrome | 16 | 4.127 | 2.1 |
| Seckel syndrome | 35 | 3.742 | 1.9 |
| Disease | log2 FC | p |
|---|---|---|
| hepatocellular carcinoma | 1.100 | 5.6e-05 |
| pancreatic cancer | 1.200 | 6.0e-03 |
| malignant mesothelioma | 1.100 | 1.0e-05 |
| osteosarcoma | -1.301 | 6.4e-03 |
| medulloblastoma, large-cell | -1.100 | 1.3e-05 |
| tuberculosis and treatment for 6 months | -1.600 | 2.3e-04 |
| intraductal papillary-mucinous adenoma (... | 1.500 | 3.0e-03 |
| intraductal papillary-mucinous carcinoma... | 1.600 | 5.3e-03 |
| intraductal papillary-mucinous neoplasm ... | 1.600 | 2.4e-02 |
| pancreatic carcinoma | 1.200 | 6.0e-03 |
| lung carcinoma | 1.100 | 7.2e-14 |
| ovarian cancer | 1.500 | 5.0e-03 |
| PMID | Year | Title | |
|---|---|---|---|
| 24389050 | 2014 | Genomic analysis of primordial dwarfism reveals novel disease genes. | |
| 24376456 | 2013 | Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9. | |
| 20966902 | 2011 | Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. | |
| 20398908 | 2010 | Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. | |
| 19086053 | 2009 | Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. | |
| 17474715 | 2007 | A thermodynamic ligand binding study of the third PDZ domain (PDZ3) from the mammalian neuronal protein PSD-95. | |
| 16713569 | 2006 | A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. | |
| 16637659 | 2006 | Uncovering quantitative protein interaction networks for mouse PDZ domains using protein microarrays. | |
| 16091592 | 2005 | The interaction between PSD-95 and Ca2+/calmodulin is enhanced by PDZ-binding proteins. | |
| 15815621 | 2005 | Generation and annotation of the DNA sequences of human chromosomes 2 and 4. | |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). | |
| 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. | |
| 12070168 | 2002 | Selective binding of synapse-associated protein 97 to GluR-A alpha-amino-5-hydroxy-3-methyl-4-isoxazole propionate receptor subunit is determined by a novel sequence motif. | |
| 11937501 | 2002 | Selectivity and promiscuity of the first and second PDZ domains of PSD-95 and synapse-associated protein 102. | |
| 11744724 | 2002 | The PDZ1 domain of SAP90. Characterization of structure and binding. | |
| 11042152 | 2000 | Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. | |
| 10570482 | 1999 | Microtubule binding by CRIPT and its potential role in the synaptic clustering of PSD-95. | |
| 9581762 | 1998 | CRIPT, a novel postsynaptic protein that binds to the third PDZ domain of PSD-95/SAP90. |
