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] See more...

Aliases for CCDC8 Gene

Aliases for CCDC8 Gene

  • Coiled-Coil Domain Containing 8 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 20 2 3
  • Coiled-Coil Domain-Containing Protein 8 3 4
  • PPP1R20 2 3
  • 3M3 2 3
  • DKFZp564K0322 2
  • CCDC8 5
  • 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 Three M Syndrome 3 and Three M Syndrome 1. An important paralog of this gene is PNMA8B.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC8 Gene

Genomics for CCDC8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCDC8 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
GH19J046410 Promoter/Enhancer 2 Ensembl ENCODE CraniofacialAtlas dbSUPER 611.1 +0.9 945 4 ARHGAP35 HNRNPL PRDM10 ZNF629 SIX5 LEF1 IKZF1 ZNF692 JUND DDX20 CCDC8 ZC3H4 CCDC61 ENSG00000269148 FBXO46 CCDC9 ENSG00000268810 SLC1A5 HIF3A PPP5C
GH19J046425 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.1 -14.0 -13964 3.7 CREB1 ATF7 RFX1 RFX5 JUND POLR2A EZH2 HDAC1 YY1 NRF1 PNMA8C PNMA8A CCDC8 lnc-PNMA8C-5
GH19J046415 Promoter/Enhancer 1.6 ENCODE CraniofacialAtlas dbSUPER 10.4 -2.9 -2856 2.2 PRDM10 ZNF629 RFX1 LEF1 IKZF1 JUND MTA2 ZIC2 POLR2A PATZ1 PPP5C IRF2BP1 ENSG00000269124 HIF3A CCDC8 lnc-PNMA8C-5 PNMA8C
GH19J046782 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.5 -372.2 -372237 6.8 RNF2 ARHGAP35 CEBPG SP1 HNRNPL CREB1 GATAD2A CTCF PRDM10 ZNF629 SLC1A5 CCDC61 ZC3H4 BICRA ENSG00000268810 SYMPK NOP53-AS1 CCDC9 STRN4 ENSG00000269148
GH19J046442 Enhancer 0.9 Ensembl ENCODE dbSUPER 7.4 -29.3 -29341 1.4 PHF21A JUND NFE2 NR3C1 FOS NFIC FOSL2 ZNF335 KDM1A BCL6B PNMA8A HIF3A CCDC8 piR-53326 PNMA8C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC8

Top Transcription factor binding sites by QIAGEN in the CCDC8 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • Hlf
  • HSF2
  • Ik-2
  • Nkx2-5
  • NRSF form 1
  • NRSF form 2

Genomic Locations for CCDC8 Gene

Genomic Locations for CCDC8 Gene
chr19:46,410,329-46,413,564
(GRCh38/hg38)
Size:
3,236 bases
Orientation:
Minus strand
chr19:46,913,586-46,916,919
(GRCh37/hg19)
Size:
3,334 bases
Orientation:
Minus strand

Genomic View for CCDC8 Gene

Genes around CCDC8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:21737058, PubMed:24793695). Interacts (via PxLPxI/L motif) with ANKRA2 (via ankyrin repeats); may link the 3M complex to histone deacetylases including HDAC4 and HDAC5 (PubMed:25752541).

    Three dimensional structures from OCA and Proteopedia for CCDC8 Gene

neXtProt entry for CCDC8 Gene

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 & Families for CCDC8 Gene

Gene Families for CCDC8 Gene

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

Protein Domains for CCDC8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC8 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 8 (CCDC8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H0W5

UniProtKB/Swiss-Prot:

CCDC8_HUMAN :
  • The PxLPxI/L motif mediates interaction with ankyrin repeats of ANKRA2.
Domain:
  • The PxLPxI/L motif mediates interaction with ankyrin repeats of ANKRA2.
genes like me logo Genes that share domains with CCDC8: view

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 From GWAS Catalog for CCDC8 Gene

Gene Ontology (GO) - Molecular Function for CCDC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25752541
genes like me logo Genes that share ontologies with CCDC8: view
genes like me logo Genes that share phenotypes with CCDC8: view

Human Phenotype Ontology for CCDC8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC8

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
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 CCDC8 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 4
cytosol 4
extracellular 1
mitochondrion 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CCDC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 24793695
GO:0005813 centrosome IDA 24793695
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CCDC8: view

Pathways & Interactions for CCDC8 Gene

PathCards logo

SuperPathways for CCDC8 Gene

No Data Available

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 IBA,IMP 24793695
GO:0010923 negative regulation of phosphatase activity IDA 19389623
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with CCDC8: view

No data available for Pathways by source and SIGNOR curated interactions for CCDC8 Gene

Drugs & Compounds for CCDC8 Gene

No Compound Related Data Available

Transcripts for CCDC8 Gene

mRNA/cDNA for CCDC8 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC8

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

No ASD Table

Relevant External Links for CCDC8 Gene

GeneLoc Exon Structure for
CCDC8

Expression for CCDC8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Ovary (Reproductive System)

Protein differential expression in normal tissues from HIPED for CCDC8 Gene

This gene is overexpressed in Adrenal (42.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCDC8 Gene



Protein tissue co-expression partners for CCDC8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC8

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.

Evidence on tissue expression from TISSUES for CCDC8 Gene

  • Nervous system(4.4)
  • Liver(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
  • penis
  • testicle
  • urethra
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with CCDC8: view

No data available for 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
Chimpanzee
(Pan troglodytes)
Mammalia CCDC8 30 31
  • 99.26 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CCDC8 30 31
  • 82.98 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CCDC8 30 31
  • 81.87 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ccdc8 30
  • 74.12 (n)
Mouse
(Mus musculus)
Mammalia Ccdc8 30 17 31
  • 73.29 (n)
OneToOne
Species where no ortholog for CCDC8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC8: view image

Paralogs for CCDC8 Gene

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

Variants for CCDC8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC8 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
714026 Likely Benign: not provided 46,412,768(-) G/A MISSENSE_VARIANT
715639 Likely Benign: not provided 46,411,365(-) G/A SYNONYMOUS_VARIANT
720515 Benign: not provided 46,412,212(-) T/A MISSENSE_VARIANT
723465 Likely Benign: not provided 46,412,644(-) G/A MISSENSE_VARIANT
731142 Likely Benign: not provided 46,411,987(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CCDC8 Gene

Variation tolerance for CCDC8 Gene

Residual Variation Intolerance Score: 88.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.24; 88.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC8 Gene

Human Gene Mutation Database (HGMD)
CCDC8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CCDC8 Gene

Disorders for CCDC8 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CCDC8 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CCDC8 in MalaCards View complete list of genes associated with diseases

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.

Additional Disease Information for CCDC8

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

No data available for Genatlas for CCDC8 Gene

Publications for CCDC8 Gene

  1. Toward 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 research 2001) 2 3 4
  2. Ankyrin repeats of ANKRA2 recognize a PxLPxL motif on the 3M syndrome protein CCDC8. (PMID: 25752541) Nie J … Yang XJ (Structure (London, England : 1993) 2015) 3 4
  3. The 3M complex maintains microtubule and genome integrity. (PMID: 24793695) Yan J … Xiong Y (Molecular cell 2014) 3 4
  4. Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. (PMID: 23018678) Hanson D … Clayton PE (Journal of molecular endocrinology 2012) 3 4
  5. 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 GC (American journal of human genetics 2011) 3 4

Products for CCDC8 Gene

Sources for CCDC8 Gene