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 ... See more...

Aliases for CCDC6 Gene

Aliases for CCDC6 Gene

  • Coiled-Coil Domain Containing 6 2 3 5
  • Papillary Thyroid Carcinoma-Encoded Protein 3 4
  • Coiled-Coil Domain-Containing Protein 6 3 4
  • D10S170 3 4
  • TST1 3 4
  • DNA Segment, Single Copy, Probe PH4 (Transforming Sequence, Thyroid-1 2
  • DNA Segment On Chromosome 10 (Unique) 170 2
  • Protein H4 4
  • PTC 3
  • TPC 3
  • H4 3

External Ids for CCDC6 Gene

Previous HGNC Symbols for CCDC6 Gene

  • TST1
  • D10S170

Previous GeneCards Identifiers for CCDC6 Gene

  • GC10M060895
  • GC10M061218
  • GC10M061548
  • GC10M055536

Summaries for CCDC6 Gene

Entrez Gene Summary for CCDC6 Gene

  • 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]

GeneCards Summary for CCDC6 Gene

CCDC6 (Coiled-Coil Domain Containing 6) is a Protein Coding gene. Diseases associated with CCDC6 include Differentiated Thyroid Carcinoma and Papillary Carcinoma. Among its related pathways are Pathways in cancer and Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include SH3 domain binding and structural constituent of cytoskeleton.

Gene Wiki entry for CCDC6 Gene

Additional gene information for CCDC6 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC6 Gene

Genomics for CCDC6 Gene

GeneHancer (GH) Regulatory Elements for CCDC6 Gene

Promoters and enhancers for CCDC6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J059897 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 514.3 +3.1 3108 11.6 HNRNPK ZBTB40 ZNF217 EP300 CTCF ZSCAN5C SIN3A NRF1 TCF12 MYC CCDC6 ENSG00000232682 lnc-CCDC6-2 piR-34822-042
GH10J059831 Enhancer 1 Ensembl ENCODE dbSUPER 24.2 +71.9 71850 7.6 CTCF REST MEF2B PBX2 GATA3 TAL1 ETV1 DPF2 RAD21 ZNF16 CCDC6 piR-34822-042 lnc-MRLN-3
GH10J059885 Enhancer 1 ENCODE dbSUPER 22.4 +21.0 20951 1.4 SP1 EP300 RELA ZNF740 RCOR1 CTBP1 TRIM22 NFYB BCL11A TCF12 CCDC6 piR-34822-042
GH10J059880 Enhancer 1 ENCODE dbSUPER 21.5 +25.3 25318 1 EP300 RELA MYC RCOR1 CTBP1 NFYB BCL11A NCOR1 TCF12 CBFB CCDC6 piR-34822-042
GH10J059864 Enhancer 0.9 ENCODE dbSUPER 23.4 +41.6 41587 1.6 CTCF REST MYC RAD21 TRIM22 SMC3 ZNF263 TCF12 STAT3 ZNF654 CCDC6 piR-34822-042
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC6

Top Transcription factor binding sites by QIAGEN in the CCDC6 gene promoter:
  • AREB6
  • ARP-1
  • CUTL1
  • LUN-1
  • Nkx2-2
  • NRSF form 1
  • NRSF form 2
  • POU2F1
  • POU2F1a
  • POU3F2 (N-Oct-5b)

Genomic Locations for CCDC6 Gene

Genomic Locations for CCDC6 Gene
chr10:59,788,747-59,906,656
(GRCh38/hg38)
Size:
117,910 bases
Orientation:
Minus strand
chr10:61,548,505-61,666,414
(GRCh37/hg19)
Size:
117,910 bases
Orientation:
Minus strand

Genomic View for CCDC6 Gene

Genes around CCDC6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC6 Gene

Proteins for CCDC6 Gene

  • Protein details for CCDC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16204-CCDC6_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 6
    Protein Accession:
    Q16204
    Secondary Accessions:
    • Q15250
    • Q6GSG7

    Protein attributes for CCDC6 Gene

    Size:
    474 amino acids
    Molecular mass:
    53291 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC60637.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for CCDC6 Gene

Post-translational modifications for CCDC6 Gene

  • Ubiquitination at Lys188
  • Modification sites at PhosphoSitePlus

Other Protein References for CCDC6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCDC6 Gene

Domains & Families for CCDC6 Gene

Gene Families for CCDC6 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CCDC6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC6 Gene

GenScript: Design optimal peptide antigens:
  • Protein H4 (CCDC6_HUMAN)
  • CCDC6 protein (Q05CP8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16204

UniProtKB/Swiss-Prot:

CCDC6_HUMAN :
  • The protein has mostly an alpha helical conformation similar to myosin heavy-chain tail that might adopt a coiled-coil conformation.
Domain:
  • The protein has mostly an alpha helical conformation similar to myosin heavy-chain tail that might adopt a coiled-coil conformation.
genes like me logo Genes that share domains with CCDC6: view

Function for CCDC6 Gene

Phenotypes From GWAS Catalog for CCDC6 Gene

Gene Ontology (GO) - Molecular Function for CCDC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton TAS 8058316
GO:0005515 protein binding IPI 23108047
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with CCDC6: view
genes like me logo Genes that share phenotypes with CCDC6: view

Animal Model Products

CRISPR Products

miRNA for CCDC6 Gene

miRTarBase miRNAs that target CCDC6

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC6 Gene

Localization for CCDC6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC6 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Note=May be a cytoskeletal protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCDC6 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
nucleus 3
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CCDC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with CCDC6: view

Pathways & Interactions for CCDC6 Gene

genes like me logo Genes that share pathways with CCDC6: view

Pathways by source for CCDC6 Gene

2 BioSystems pathways for CCDC6 Gene
2 KEGG pathways for CCDC6 Gene

SIGNOR curated interactions for CCDC6 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CCDC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with CCDC6: view

Drugs & Compounds for CCDC6 Gene

(1) Drugs for CCDC6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with CCDC6: view

Transcripts for CCDC6 Gene

mRNA/cDNA for CCDC6 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC6 Gene

No ASD Table

Relevant External Links for CCDC6 Gene

GeneLoc Exon Structure for
CCDC6

Expression for CCDC6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CCDC6 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC6 Gene



Protein tissue co-expression partners for CCDC6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC6

SOURCE GeneReport for Unigene cluster for CCDC6 Gene:

Hs.591360

mRNA Expression by UniProt/SwissProt for CCDC6 Gene:

Q16204-CCDC6_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for CCDC6 Gene

  • Thyroid gland(4.5)
  • Blood(4.2)
  • Liver(4.2)
  • Nervous system(3.7)
  • Skin(2.2)
  • Lung(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC6 Gene

Germ Layers:
  • endoderm
Systems:
  • endocrine
Regions:
Head and neck:
  • neck
  • thyroid
genes like me logo Genes that share expression patterns with CCDC6: view

No data available for mRNA differential expression in normal tissues for CCDC6 Gene

Orthologs for CCDC6 Gene

This gene was present in the common ancestor of animals.

Orthologs for CCDC6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC6 31 30
  • 99.86 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC6 31 30
  • 93.48 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCDC6 31
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC6 31 30
  • 92.87 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC6 31
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc6 17 31 30
  • 85.01 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc6 30
  • 84.87 (n)
chicken
(Gallus gallus)
Aves CCDC6 31 30
  • 83.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC6 31
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc6 30
  • 78.41 (n)
Str.2001 30
African clawed frog
(Xenopus laevis)
Amphibia MGC53501 30
zebrafish
(Danio rerio)
Actinopterygii ccdc6a 31
  • 84 (a)
OneToMany
ccdc6b 31 30
  • 76.63 (n)
OneToMany
-- 30
fruit fly
(Drosophila melanogaster)
Insecta CG6664 31
  • 43 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T09B9.4 31
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3546 31
  • 57 (a)
OneToOne
Cin.13926 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13926 30
Species where no ortholog for CCDC6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CCDC6 Gene

ENSEMBL:
Gene Tree for CCDC6 (if available)
TreeFam:
Gene Tree for CCDC6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC6: view image

Paralogs for CCDC6 Gene

(2) SIMAP similar genes for CCDC6 Gene using alignment to 2 proteins:

  • CCDC6_HUMAN
  • Q05CP8_HUMAN
genes like me logo Genes that share paralogs with CCDC6: view

No data available for Paralogs for CCDC6 Gene

Variants for CCDC6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC6 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
709697 Benign: not provided 59,814,722(-) A/G SYNONYMOUS_VARIANT
709698 Benign: not provided 59,832,645(-) A/G SYNONYMOUS_VARIANT
rs1053266 - p.Pro470Thr

Additional dbSNP identifiers (rs#s) for CCDC6 Gene

Structural Variations from Database of Genomic Variants (DGV) for CCDC6 Gene

Variant ID Type Subtype PubMed ID
esv1123063 CNV deletion 17803354
esv2737474 CNV deletion 23290073
esv29571 CNV gain+loss 19812545
esv3578934 CNV loss 25503493
nsv1069054 CNV deletion 25765185
nsv1127113 CNV deletion 24896259
nsv25344 CNV insertion 16902084
nsv820824 CNV deletion 20802225
nsv948030 CNV duplication 23825009

Variation tolerance for CCDC6 Gene

Residual Variation Intolerance Score: 25.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.76; 95.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC6 Gene

Disorders for CCDC6 Gene

MalaCards: The human disease database

(9) MalaCards diseases for CCDC6 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
differentiated thyroid carcinoma
  • papillary or follicular thyroid carcinoma
papillary carcinoma
  • carcinoma papillary
thyroid carcinoma
  • thyroid cancer
thyroid gland cancer
  • malignant neoplasm of thyroid gland
internal hordeolum
- elite association - COSMIC cancer census association via MalaCards
Search CCDC6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CCDC6_HUMAN
  • Note=A chromosomal aberration involving CCDC6 is found in papillary thyroid carcinomas (PTCs). Inversion inv(10)(q11.2;q21) generates the RET/CCDC6 (PTC1) oncogene. {ECO:0000269 PubMed:2406025}.

Additional Disease Information for CCDC6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CCDC6: view

No data available for Genatlas for CCDC6 Gene

Publications for CCDC6 Gene

  1. Cloning and characterization of H4 (D10S170), a gene involved in RET rearrangements in vivo. (PMID: 8058316) Grieco M … Vecchio G (Oncogene 1994) 2 3 4 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors. (PMID: 19730683) Landa I … Robledo M (PLoS genetics 2009) 3 41 54
  4. Transcript level modulates the inherent oncogenicity of RET/PTC oncoproteins. (PMID: 19487296) Richardson DS … Mulligan LM (Cancer research 2009) 3 23 54
  5. Common SNP in pre-miR-146a decreases mature miR expression and predisposes to papillary thyroid carcinoma. (PMID: 18474871) Jazdzewski K … de la Chapelle A (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 41 54

Products for CCDC6 Gene

Sources for CCDC6 Gene