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CCDC6 (coiled-coil domain containing 6)


Other namesD10S170
LocusID (NCBI) 8030
Location 10q21.2
Location_base_pair Starts at 61548506 and ends at 61666414 bp from pter ( according to hg19-Feb_2009)  [Mapping]


Description At least 8 exons spanning >76kb (gene incompletely characterized).
Pseudogene None reported


Description 585 amino acid leucine zipper protein
Expression Widely expressed
Function Unknown
Homology Weak but significant homology to the myosin superfamily

Implicated in

Entity Papillary thyroid carcinoma
Cytogenetics inv(10)(q11.2q21)
Hybrid/Mutated Gene H4-RET (also known as PTC1)
Abnormal Protein Contains the leucine zipper of H4 and the entire tyrosine kinase domain of RET. The fusion is a constitutively active tyrosine kinase.
Oncogenesis In transgenic mice the fusion gave rise to mammary adenocarcinomas and, less frequently, hyperplasia of sebaceous glands and rare benign skin tumors.
Entity negative chronic myeloid leukaemia / chronic myelomonocytic leukemia
Prognosis Too few cases reported but likely to be similar to CML
Cytogenetics t(5;10)(q33;q21.2)
Hybrid/Mutated Gene H4-PDGFRB. In a single case analyzed the translocation was found to be complex at the molecular level.
Abnormal Protein Contains the leucine zipper of H4 and the entire tyrosine kinase domain and transmembrane domain of PDGFRB



External links

HGNC (Hugo)CCDC6   18782
Entrez_Gene (NCBI)CCDC6  8030  coiled-coil domain containing 6
GeneCards (Weizmann)CCDC6
Ensembl (Hinxton)ENSG00000108091 [Gene_View]  chr10:61548506-61666414 [Contig_View]  CCDC6 [Vega]
Genatlas (Paris)CCDC6
SOURCE (Princeton)NM_005436
Genomic and cartography
GoldenPath (UCSC)CCDC6  -  10q21.2   chr10:61548506-61666414 -  10q21.2   [Description]    (hg19-Feb_2009)
EnsemblCCDC6 - 10q21.2 [CytoView]
Mapping of homologs : NCBICCDC6 [Mapview]
OMIM188550   601985   
Gene and transcription
Genbank (Entrez)AA112388 AK024913 AK055515 AK056848 AK292593
RefSeq transcript (Entrez)NM_005436
RefSeq genomic (Entrez)AC_000142 NC_000010 NC_018921 NG_027819 NT_030059 NW_001837986 NW_004929376
Consensus coding sequences : CCDS (NCBI)CCDC6
Cluster EST : UnigeneHs.591360 [ NCBI ]
CGAP (NCI)Hs.591360
Alternative Splicing : Fast-db (Paris)GSHG0004098
Alternative Splicing GalleryENSG00000108091
Gene ExpressionCCDC6 [ NCBI-GEO ]     CCDC6 [ SEEK ]   CCDC6 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16204 (Uniprot)
NextProtQ16204  [Medical]
With graphics : InterProQ16204
Splice isoforms : SwissVarQ16204 (Swissvar)
Domains : Interpro (EBI)DUF2046   
Related proteins : CluSTrQ16204
Domain families : Pfam (Sanger)DUF2046 (PF09755)   
Domain families : Pfam (NCBI)pfam09755   
DMDM Disease mutations8030
Blocks (Seattle)Q16204
Human Protein AtlasENSG00000108091
Peptide AtlasQ16204
IPIIPI00807498   IPI00956015   
Protein Interaction databases
IntAct (EBI)Q16204
Interologous Interaction database Q16204
Ontologies - Pathways
Ontology : AmiGOstructural constituent of cytoskeleton  protein binding  cytoplasm  cytoskeleton  biological_process  SH3 domain binding  
Ontology : EGO-EBIstructural constituent of cytoskeleton  protein binding  cytoplasm  cytoskeleton  biological_process  SH3 domain binding  
Pathways : KEGGPathways in cancer    Thyroid cancer   
Protein Interaction DatabaseCCDC6
Wikipedia pathwaysCCDC6
Gene fusion - rearrangments
Rearrangement : COSMICCCDC6 [10q21.2]  -  RET [10q11.21]
Rearrangement : TICdbCCDC6 [10q21.2]  -  CCDC6 [10q21.2]
Rearrangement : TICdbCCDC6 [10q21.2]  -  CCDC6 [10q21.2]
Rearrangement : TICdbCCDC6 [10q21.2]  -  PDGFRB [5q32]
Rearrangement : TICdbCCDC6 [10q21.2]  -  RET [10q11.21]
Rearrangement : TICdbPDGFRB [5q32]  -  CCDC6 [10q21.2]
Rearrangement : TICdbRET [10q11.21]  -  CCDC6 [10q21.2]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CCDC6
Genetic variants : HAPMAPCCDC6
ICGC programENSG00000108091 
Cancer Gene: CensusCCDC6 
Somatic Mutations in Cancer : COSMICCCDC6 
CONAN: Copy Number AnalysisCCDC6 
Mutations and Diseases : HGMDCCDC6
OMIM188550    601985   
Disease Genetic AssociationCCDC6
Huge Navigator CCDC6 [HugePedia]  CCDC6 [HugeCancerGEM]
Genomic VariantsCCDC6  CCDC6 [DGVbeta]
Exome VariantCCDC6
snp3D : Map Gene to Disease8030
General knowledge
Homologs : HomoloGeneCCDC6
Homology/Alignments : Family Browser (UCSC)CCDC6
Phylogenetic Trees/Animal Genes : TreeFamCCDC6
Chemical/Protein Interactions : CTD8030
Chemical/Pharm GKB GenePA134904022
Clinical trialCCDC6
Cancer Resource (Charite)ENSG00000108091
Other databases
PubMed46 Pubmed reference(s) in Entrez


Characterization of an inversion on the long arm of chromosome 10 juxtaposing D10S170 and RET and creating the oncogenic sequence RET/PTC.
Pierotti MA, Santoro M, Jenkins RB, Sozzi G, Bongarzone I, Grieco M, Monzini N, Miozzo M, Herrmann MA, Fusco A
Proceedings of the National Academy of Sciences of the United States of America. 1992 ; 89 (5) : 1616-1620.
PMID 1542652
Cloning and characterization of H4 (D10S170), a gene involved in RET rearrangements in vivo.
Grieco M, Cerrato A, Santoro M, Fusco A, Melillo RM, Vecchio G
Oncogene. 1994 ; 9 (9) : 2531-2535.
PMID 8058316
Development of mammary and cutaneous gland tumors in transgenic mice carrying the RET/PTC1 oncogene.
Portella G, Salvatore D, Botti G, Cerrato A, Zhang L, Mineo A, Chiappetta G, Santelli G, Pozzi L, Vecchio G, Fusco A, Santoro M
Oncogene. 1996 ; 13 (9) : 2021-2026.
PMID 8934550
Leucine zipper-mediated dimerization is essential for the PTC1 oncogenic activity.
Tong Q, Xing S, Jhiang SM
The Journal of biological chemistry. 1997 ; 272 (14) : 9043-9047.
PMID 9083029
Fusion of H4/D10S170 to the platelet-derived growth factor receptor beta in BCR-ABL-negative myeloproliferative disorders with a t(5;10)(q33;q21).
Kulkarni S, Heath C, Parker S, Chase A, Iqbal S, Pocock CF, Kaeda J, Cwynarski K, Goldman JM, Cross NC
Cancer research. 2000 ; 60 (13) : 3592-3598.
PMID 10910073
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Written06-2001Nick.C P Cross


This paper should be referenced as such :
Cross NCP . CCDC6 (coiled-coil domain containing 6). Atlas Genet Cytogenet Oncol Haematol. June 2001 .

The various updated versions of this paper are referenced and archived by INIST as such :   [ Bibliographic record ]

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Apr 18 17:33:49 CEST 2014

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