Human Gene CCDC50 (uc003fsv.3) Description and Page Index
Description: Homo sapiens coiled-coil domain containing 50 (CCDC50), transcript variant 2, mRNA. RefSeq Summary (NM_178335): This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]. Transcript (Including UTRs) Position: hg19 chr3:191,046,874-191,116,459 Size: 69,586 Total Exon Count: 12 Strand: + Coding Region Position: hg19 chr3:191,047,464-191,109,549 Size: 62,086 Coding Exon Count: 12
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): CCDC50 CDC HuGE Published Literature: CCDC50 Positive Disease Associations: Echocardiography Related Studies:
Echocardiography Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics.
In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
Pfam Domains: PF15295 - Coiled-coil domain-containing protein 50 N-terminus
ModBase Predicted Comparative 3D Structure on Q8IVM0-2
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.