Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

CCDC6 (coiled-coil domain containing 6)

Identity

Other namesD10S170
H4
TST1
HGNC (Hugo) CCDC6
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]

DNA/RNA

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

Protein

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
  

Breakpoints

 

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615 11q23ID1030

Other Solid tumors implicated (Data extracted from papers in the Atlas)

Solid Tumors AmeloblastomID5945

External links

Nomenclature
HGNC (Hugo)CCDC6   18782
Cards
AtlasH4ID280
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]
ICGC DataPortalENSG00000108091
AceView (NCBI)CCDC6
Genatlas (Paris)CCDC6
WikiGenes8030
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
HPRD09064
IPIIPI00807498   IPI00956015   
Protein Interaction databases
DIP (DOE-UCLA)Q16204
IntAct (EBI)Q16204
FunCoupENSG00000108091
BioGRIDCCDC6
IntegromeDBCCDC6
STRING (EMBL)CCDC6
Ontologies - Pathways
QuickGOQ16204
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]  -  PDGFRB [1p13.3]
Rearrangement : TICdbCCDC6 [10q21.2]  -  RET [3p25.2]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CCDC6
SNP (GeneSNP Utah)CCDC6
SNP : HGBaseCCDC6
Genetic variants : HAPMAPCCDC6
1000_GenomesCCDC6 
ICGC programENSG00000108091 
Cancer Gene: CensusCCDC6 
CONAN: Copy Number AnalysisCCDC6 
Somatic Mutations in Cancer : COSMICCCDC6 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
DECIPHER (Syndromes)10:61548506-61666414
Mutations and Diseases : HGMDCCDC6
OMIM188550    601985   
MedgenCCDC6
GENETestsCCDC6
Disease Genetic AssociationCCDC6
Huge Navigator CCDC6 [HugePedia]  CCDC6 [HugeCancerGEM]
Genomic VariantsCCDC6  CCDC6 [DGVbeta]
Exome VariantCCDC6
dbVarCCDC6
ClinVarCCDC6
snp3D : Map Gene to Disease8030
DGIdb (Curated mutations)CCDC6
DGIdb (Drug Gene Interaction db)CCDC6
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
Other databasehttp://cancergenome.broadinstitute.org/index.php?tgene=CCDC6
Probes
Probe
Litterature
PubMed50 Pubmed reference(s) in Entrez
CoreMineCCDC6
GoPubMedCCDC6
iHOPCCDC6

Bibliography

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

Search in all EBI   NCBI

Contributor(s)

Written06-2001Nick.C P Cross

Citation

This paper should be referenced as such :
Cross, NCP
CCDC6 (coiled-coil domain containing 6)
Atlas Genet Cytogenet Oncol Haematol. 2001;5(3):186-187.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/H4ID280.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Dec 4 15:34:13 CET 2014

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.