CCDC6

Identity

Other names	D10S170
	H4
	TST1
Hugo	CCDC6
Location	10q21.2

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

External links

	Nomenclature
Hugo	CCDC6
GDB	CCDC6
Entrez_Gene	CCDC6  8030  coiled-coil domain containing 6
	Cards
Atlas	H4ID280
GeneCards	CCDC6
Ensembl	CCDC6 [Search_View]   ENSG00000108091 [Gene_View]
Genatlas	CCDC6
GeneLynx	CCDC6
eGenome	CCDC6
euGene	8030
	Genomic and cartography
GoldenPath	CCDC6  -  10q21.2   chr10:61218527-61336824 -  10q21   [Description]    (hg18-Mar_2006)
Ensembl	CCDC6 - 10q21 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	CCDC6
	Gene and transcription
Genbank	AA112388 [ ENTREZ ]
Genbank	AK024913 [ ENTREZ ]
Genbank	AK055515 [ ENTREZ ]
Genbank	AK056848 [ ENTREZ ]
Genbank	BC022284 [ ENTREZ ]
RefSeq	NM_005436 [ SRS ]    NM_005436 [ ENTREZ ]
RefSeq	AC_000053 [ SRS ]    AC_000053 [ ENTREZ ]
RefSeq	NC_000010 [ SRS ]    NC_000010 [ ENTREZ ]
RefSeq	NT_008583 [ SRS ]    NT_008583 [ ENTREZ ]
RefSeq	NW_924796 [ SRS ]    NW_924796 [ ENTREZ ]
AceView	CCDC6 AceView - NCBI
Unigene	Hs.591360 [ SRS ]    Hs.591360 [ NCBI ]     HS591360 [ spliceNest ]
Fast-db	10886 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q16204 [ SRS]    Q16204 [ EXPASY ]     Q16204 [ INTERPRO ]
CluSTr	Q16204
Blocks	Q16204
HPRD	09064
	Protein Interaction databases
DIP	Q16204
IntAct	Q16204
	Polymorphism : SNP, mutations, diseases
OMIM	188550;601985    [ map ]
GENECLINICS	188550;601985
SNP	CCDC6 [dbSNP-NCBI]
SNP	NM_005436 [SNP-NCI]
SNP	CCDC6 [GeneSNPs - Utah]  CCDC6] [HGBASE - SRS]
HAPMAP	CCDC6 [HAPMAP]
COSMIC	CCDC6 [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	CCDC6
	General knowledge
Family Browser	CCDC6 [UCSC Family Browser]
SOURCE	NM_005436
SMD	Hs.591360
SAGE	Hs.591360
GO	structural constituent of cytoskeleton [Amigo]  structural constituent of cytoskeleton
GO	protein binding [Amigo]  protein binding
GO	cellular_component [Amigo]  cellular_component
GO	cytoplasm [Amigo]  cytoplasm
GO	cytoskeleton [Amigo]  cytoskeleton
GO	biological_process [Amigo]  biological_process
PubGene	CCDC6
TreeFam	CCDC6
CTD	8030 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe
Probe	CCDC6 Related clones (RZPD - Berlin)
	PubMed
PubMed	16 Pubmed reference(s) in LocusLink

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 articles	automatic search in PubMed
Last year publications	automatic search in PubMed

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Contributor(s)

Written	06-2001	Nick.C P Cross

Citation

This paper should be referenced as such :

Cross NCP . CCDC6. Atlas Genet Cytogenet Oncol Haematol. June 2001 . URL : http://AtlasGeneticsOncology.org/Genes/H4ID280.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Wed Jul 2 08:23:55 2008