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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
  • PPP1R20 3
  • P90 3
  • 3M3 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC8 Gene

Genomics for CCDC8 Gene

Regulatory Elements for CCDC8 Gene

Enhancers for CCDC8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G046425 1.3 Ensembl ENCODE dbSUPER 13.1 -12.8 -12843 1.7 HDAC1 CTCF MXI1 SAP130 MAX SIN3A BMI1 RAD21 YY1 SLC30A9 PNMA8A CCDC8 PNMA8C
GH19G046415 1.5 Ensembl ENCODE dbSUPER 10.4 -2.8 -2759 2.2 ATF1 MLX ARID4B SIN3A GLI4 ZNF121 GLIS2 KLF7 KLF13 SP3 IRF2BP1 HIF3A CCDC8 PPP5C PNMA8C
GH19G046410 1.4 ENCODE dbSUPER 11.1 +1.0 1044 4.0 PKNOX1 CREB3L1 ARNT SIN3A FEZF1 YY1 ZNF766 ZNF302 FOS KLF13 CCDC61 ZC3H4 FBXO46 ENSG00000269148 CCDC9 PRKD2 ENSG00000268810 SLC1A5 CCDC8 HIF3A
GH19G046442 1.3 Ensembl ENCODE dbSUPER 7.4 -29.3 -29282 1.3 BCOR MAX RAD21 YY1 ZNF121 NFE2 NR2F6 FOS CREM GABPA PNMA8A HIF3A CCDC8 PIR47325 GC19P046447 PNMA8C
GH19G046403 1.5 Ensembl ENCODE dbSUPER 5.6 +8.8 8801 2.4 ATF1 CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF48 GTF3C2 GLIS2 PPP5C ZC3H4 FBXO46 CCDC61 ENSG00000269148 ENSG00000204850 PNMA8B PNMA8A CCDC9 ENSG00000268810
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCDC8 on UCSC Golden Path with GeneCards custom track

Promoters for CCDC8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000110363 762 1801 PKNOX1 CREB3L1 FEZF1 YY1 ZNF766 ZNF302 FOS KLF13 ZNF263 SP3

Genomic Location for CCDC8 Gene

Chromosome:
19
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

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

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

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).

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

miRNA for CCDC8 Gene

miRTarBase miRNAs that target CCDC8

Inhibitory RNA Products

Clone Products

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
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for CCDC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IEA,IDA 24793695
GO:0005813 centrosome IDA 24793695
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol TAS,IDA --
genes like me logo Genes that share ontologies with CCDC8: view

Pathways & Interactions for CCDC8 Gene

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

Unigene Clusters for CCDC8 Gene

Coiled-coil domain containing 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC8 Gene

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, PaxDb, MaxQB, and MOPED for CCDC8 Gene



Protein tissue co-expression partners for CCDC8 Gene

NURSA nuclear receptor signaling pathways regulating expression of CCDC8 Gene:

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

  • Liver(4.2)
  • Nervous system(4.2)

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
Organs:
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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia CCDC8 34 35
  • 99.26 (n)
dog
(Canis familiaris)
Mammalia CCDC8 34 35
  • 82.98 (n)
cow
(Bos Taurus)
Mammalia CCDC8 34 35
  • 81.87 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc8 34
  • 74.12 (n)
mouse
(Mus musculus)
Mammalia Ccdc8 34 16 35
  • 73.29 (n)
Species where no ortholog for CCDC8 was found in the sources mined by GeneCards:
  • 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
rs2279517 Benign 46,411,290(-) CCCAA(C/G/T)AGAGT reference, missense
rs75175362 Benign 46,411,670(+) GTTAT(C/T)TGTGC reference, missense
rs1000195655 -- 46,413,757(+) GCTTC(A/C)CAGCG upstream-variant-2KB
rs1000957663 -- 46,415,261(+) GAGAC(A/G)TGTTG upstream-variant-2KB
rs1001146183 -- 46,415,381(+) AGTGG(C/T)GGATC upstream-variant-2KB

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)

Relevant External Links for CCDC8 Gene

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

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

(3) MalaCards diseases for CCDC8 Gene - From: OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
3-m syndrome 3
  • 3m syndrome 3
3-m syndrome, ccdc8-related
  • 3m syndrome 3
3-m syndrome 1
  • 3-m syndrome
- 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.

Relevant External Links for CCDC8

Genetic Association Database (GAD)
CCDC8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. 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 64
  2. Ankyrin repeats of ANKRA2 recognize a PxLPxL motif on the 3M syndrome protein CCDC8. (PMID: 25752541) Nie J. … Yang X.J. (Structure 2015) 3 4 64
  3. The 3M complex maintains microtubule and genome integrity. (PMID: 24793695) Yan J. … Xiong Y. (Mol. Cell 2014) 3 4 64
  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 64
  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 G.C. (Am. J. Hum. Genet. 2011) 3 4 64

Products for CCDC8 Gene

Sources for CCDC8 Gene

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