⮝ Full datasets listing
PXD064339
PXD064339 is an original dataset announced via ProteomeXchange.
Dataset Summary
| Title | A de novo CCDC6 inframe deletion inducing phosphoprotein phosphatase dysfunction and arising CLAMP syndrome showing Marfan-like features |
| Description | Phosphoprotein phosphatases are the most abundant in the cell and regulate various cellular functions, such as cell survival, DNA damage response, tau dephosphorylation, and apoptosis. Some phosphoprotein phosphatase dysfunctions promote neurodevelopmental disorders. Exome or genome sequencing identified individuals with Marfan syndrome-like connective tissue disorders, mild neurodevelopmental disorders, and attention deficit in 11 individuals from 10 families due to a de novo in-frame deletion (NM_005436.5:c.415_417del p.Glu139del) in the CCDC6 gene. Zebrafish model analysis revealed loss of sociability and abnormal shapes in the skull, vertebra, and ribs. Proteome analyses using patient-derived lymphoblastoid cell line or mutant or wild-type CCDC6 overexpression in HeLa cells showed mutant CCDC6 strongly binds to phosphoprotein phosphatase and its regulators, causing phosphorylation regulation disorders. Interestingly, these patients showed partially overlapped findings of reported PP2A-related disorders. We demonstrate a new disorder, CLAMP syndrome, Craniofacial dysmorphisms, Language delay, Autistic features, Marfan syndrome-like findings, and Phosphoprotein phosphatase dysfunction. |
| HostingRepository | jPOST |
| AnnounceDate | 2026-05-28 |
| AnnouncementXML | Submission_2026-05-27_08:00:08.976.xml |
| DigitalObjectIdentifier | |
| ReviewLevel | Non peer-reviewed dataset |
| DatasetOrigin | Original dataset |
| RepositorySupport | Unsupported dataset by repository |
| PrimarySubmitter | Hidehisa Takahashi |
| SpeciesList | scientific name: Homo sapiens (Human); NCBI TaxID: 9606; |
| ModificationList | L-methionine sulfoxide; S-carboxamidomethyl-L-cysteine; alpha-amino acetylated residue |
| Instrument | Q Exactive |
Dataset History
| Revision | Datetime | Status | ChangeLog Entry |
|---|---|---|---|
| 0 | 2025-05-27 09:41:34 | ID requested | |
| ⏵ 1 | 2026-05-27 08:00:09 | announced |
Publication List
| Dataset with its publication pending |
Keyword List
| submitter keyword: CCDC6, PPI, phosphorylation |
Contact List
| Naomichi Matsumoto, Hidehisa Takahashi | |
|---|---|
| lab head | |
| Hidehisa Takahashi | |
| contact affiliation | Yokohama city university |
| dataset submitter | |
Full Dataset Link List
| jPOST dataset URI |
| Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.jpostdb.org/JPST003829/ |
