Description: Homo sapiens coiled-coil domain containing 6 (CCDC6), mRNA. RefSeq Summary (NM_005436): This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Transcript (Including UTRs) Position: hg19 chr10:61,548,506-61,666,414 Size: 117,909 Total Exon Count: 9 Strand: - Coding Region Position: hg19 chr10:61,552,675-61,666,182 Size: 113,508 Coding Exon Count: 9
ID:CCDC6_HUMAN DESCRIPTION: RecName: Full=Coiled-coil domain-containing protein 6; AltName: Full=Papillary thyroid carcinoma-encoded protein; AltName: Full=Protein H4; SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton (Probable). Note=May be a cytoskeletal protein. TISSUE SPECIFICITY: Ubiquitously expressed. DOMAIN: The protein has mostly an alpha helical conformation similar to myosin heavy-chain tail that might adopt a coiled-coil conformation. DISEASE: Defects in CCDC6 are a cause of thyroid papillary carcinoma (TPC) [MIM:188550]. TPC is a common tumor of the thyroid that typically arises as an irregular, solid or cystic mass from otherwise normal thyroid tissue. Papillary carcinomas are malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. Note=A chromosomal aberration involving CCDC6 is found in thyroid papillary carcinomas. Inversion inv(10)(q11.2;q21) generates the RET/CCDC6 (PTC1) oncogene. SEQUENCE CAUTION: Sequence=AAC60637.1; Type=Frameshift; Positions=456; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/H4ID280.html";
Genetic Association Studies of Complex Diseases and Disorders
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.
Pfam Domains: PF09755 - Uncharacterized conserved protein H4 (DUF2046)
ModBase Predicted Comparative 3D Structure on Q16204
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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.