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Aliases for CCDC8 Gene

Aliases for CCDC8 Gene

  • Coiled-Coil Domain Containing 8 2 3
  • 3M3 3 6
  • Protein Phosphatase 1, Regulatory Subunit 20 3
  • Coiled-Coil Domain-Containing Protein 8 3
  • Protein Phosphatase 1 2
  • Regulatory Subunit 20 2
  • PPP1R20 3
  • P90 3

External Ids for CCDC8 Gene

Previous GeneCards Identifiers for CCDC8 Gene

  • GC00U914333
  • GC19M051606
  • GC19M051607
  • GC19M046914
  • GC19M043345

Summaries for CCDC8 Gene

Entrez Gene Summary for CCDC8 Gene

  • This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011]

GeneCards Summary for CCDC8 Gene

CCDC8 (Coiled-Coil Domain Containing 8) is a Protein Coding gene. Diseases associated with CCDC8 include 3-m syndrome 3 and 3-m syndrome, ccdc8-related.

UniProtKB/Swiss-Prot for CCDC8 Gene

  • Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Required for localization of CUL7 to the centrosome (PubMed:24793695).

Gene Wiki entry for CCDC8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC8 Gene

Genomics for CCDC8 Gene

Regulatory Elements for CCDC8 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CCDC8 Gene

Start:
46,410,329 bp from pter
End:
46,413,662 bp from pter
Size:
3,334 bases
Orientation:
Minus strand

Genomic View for CCDC8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CCDC8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC8 Gene

Proteins for CCDC8 Gene

  • Protein details for CCDC8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0W5-CCDC8_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 8
    Protein Accession:
    Q9H0W5
    Secondary Accessions:
    • Q8TB26

    Protein attributes for CCDC8 Gene

    Size:
    538 amino acids
    Molecular mass:
    59374 Da
    Quaternary structure:
    • Component of the 3M complex, composed of core components CUL7, CCDC8 and OBSL1. Interacts with OBSL1.

    Three dimensional structures from OCA and Proteopedia for CCDC8 Gene

neXtProt entry for CCDC8 Gene

Proteomics data for CCDC8 Gene at MOPED

Post-translational modifications for CCDC8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCDC8 Gene

Domains for CCDC8 Gene

Gene Families for CCDC8 Gene

HGNC:
  • PPP1R :Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits

Protein Domains for CCDC8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC8: view

No data available for UniProtKB/Swiss-Prot for CCDC8 Gene

Function for CCDC8 Gene

Molecular function for CCDC8 Gene

UniProtKB/Swiss-Prot Function:
Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Required for localization of CUL7 to the centrosome (PubMed:24793695).

Phenotypes for CCDC8 Gene

genes like me logo Genes that share phenotypes with CCDC8: view

Animal Model Products

miRNA for CCDC8 Gene

miRTarBase miRNAs that target CCDC8

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CCDC8

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targeting and HOMER Transcription for CCDC8 Gene

Localization for CCDC8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC8 Gene

Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCDC8 Gene COMPARTMENTS Subcellular localization image for CCDC8 gene
Compartment Confidence
plasma membrane 4
nucleus 3
cytosol 1

Gene Ontology (GO) - Cellular Components for CCDC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 24793695
GO:0005813 centrosome IDA 24793695
GO:0005886 plasma membrane IDA --
GO:1990393 3M complex IDA 24793695
genes like me logo Genes that share ontologies with CCDC8: view

Pathways for CCDC8 Gene

SuperPathways for CCDC8 Gene

No Data Available

Interacting Proteins for CCDC8 Gene

Gene Ontology (GO) - Biological Process for CCDC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IMP 24793695
GO:0007088 regulation of mitotic nuclear division IMP 24793695
GO:0010923 negative regulation of phosphatase activity IDA 19389623
genes like me logo Genes that share ontologies with CCDC8: view

No data available for Pathways by source for CCDC8 Gene

Transcripts for CCDC8 Gene

mRNA/cDNA for CCDC8 Gene

(73) Selected AceView cDNA sequences:
(5) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CCDC8 Gene

Coiled-coil domain containing 8:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CCDC8

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC8 Gene

No ASD Table

Relevant External Links for CCDC8 Gene

GeneLoc Exon Structure for
CCDC8
ECgene alternative splicing isoforms for
CCDC8

Expression for CCDC8 Gene

mRNA expression in normal human tissues for CCDC8 Gene

Protein differential expression in normal tissues for CCDC8 Gene

This gene is overexpressed in Adrenal (42.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CCDC8 Gene

SOURCE GeneReport for Unigene cluster for CCDC8 Gene Hs.97876

mRNA Expression by UniProt/SwissProt for CCDC8 Gene

Q9H0W5-CCDC8_HUMAN
Tissue specificity: Widely expressed with low levels in spleen, skeletal muscle, small intestine, kidney and liver.
genes like me logo Genes that share expressions with CCDC8: view

Expression partners for CCDC8 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CCDC8 Gene

Orthologs for CCDC8 Gene

This gene was present in the common ancestor of mammals.

Orthologs for CCDC8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CCDC8 35
  • 81.87 (n)
  • 76.41 (a)
CCDC8 36
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC8 35
  • 82.98 (n)
  • 77.78 (a)
CCDC8 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc8 35
  • 73.29 (n)
  • 62.88 (a)
Ccdc8 16
Ccdc8 36
  • 50 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CCDC8 35
  • 99.26 (n)
  • 98.7 (a)
CCDC8 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc8 35
  • 74.12 (n)
  • 64.38 (a)
Species with no ortholog for CCDC8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CCDC8 Gene

ENSEMBL:
Gene Tree for CCDC8 (if available)
TreeFam:
Gene Tree for CCDC8 (if available)

Paralogs for CCDC8 Gene

No data available for Paralogs for CCDC8 Gene

Variants for CCDC8 Gene

Sequence variations from dbSNP and Humsavar for CCDC8 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs2279517 - 46,411,290(-) CCCAA(C/G)AGAGT missense, reference
rs3063398 -- 46,410,644(+) CTCAA(-/GCC)CTCTT utr-variant-3-prime
rs3209547 -- 46,411,030(-) TTTTA(A/T)ATTTT utr-variant-3-prime
rs4802310 -- 46,413,325(+) CCAAG(C/T)TGGGG utr-variant-5-prime
rs7246254 -- 46,415,534(+) gatgt(A/G)tacaa upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CCDC8 Gene

Variant ID Type Subtype PubMed ID
nsv912184 CNV Gain 21882294
nsv912185 CNV Loss 21882294

Relevant External Links for CCDC8 Gene

HapMap Linkage Disequilibrium report
CCDC8
Human Gene Mutation Database (HGMD)
CCDC8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC8 Gene

Disorders for CCDC8 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for CCDC8 Gene in MalaCards »

(2) Diseases for CCDC8 Gene including...

(1) OMIM Diseases for CCDC8 Gene (614145)

UniProtKB/Swiss-Prot

CCDC8_HUMAN
  • 3M syndrome 3 (3M3) [MIM:614205]: A disorder characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels. {ECO:0000269 PubMed:21737058, ECO:0000269 PubMed:23018678}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CCDC8

Genetic Association Database (GAD)
CCDC8
genes like me logo Genes that share disorders with CCDC8: view

No data available for University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for CCDC8 Gene

Publications for CCDC8 Gene

  1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 2 3 4
  2. Exome sequencing identifies CCDC8 mutations in 3-M syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth. (PMID: 21737058) Hanson D. … Black G.C. (Am. J. Hum. Genet. 2011) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. (PMID: 23018678) Hanson D. … Clayton P.E. (J. Mol. Endocrinol. 2012) 3 4
  5. The 3M complex maintains microtubule and genome integrity. (PMID: 24793695) Yan J. … Xiong Y. (Mol. Cell 2014) 3 4

Products for CCDC8 Gene

Sources for CCDC8 Gene

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