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Aliases for CCDC78 Gene

Aliases for CCDC78 Gene

  • Coiled-Coil Domain Containing 78 2 3
  • C16orf25 3 4 6
  • HsCCDC78 3 4
  • CNM4 3 6
  • Coiled-Coil Domain-Containing Protein 78 3
  • JFP10 3

External Ids for CCDC78 Gene

Previous Symbols for CCDC78 Gene

  • C16orf25

Summaries for CCDC78 Gene

Entrez Gene Summary for CCDC78 Gene

  • The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012]

GeneCards Summary for CCDC78 Gene

CCDC78 (Coiled-Coil Domain Containing 78) is a Protein Coding gene. Diseases associated with CCDC78 include myopathy, centronuclear, 4 and congenital myopathy with internal nuclei and atypical cores.

UniProtKB/Swiss-Prot for CCDC78 Gene

  • Component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles. Deuterosome-mediated centriole amplification occurs in terminally differentiated multiciliated cells (G1/0) and not in S phase. Essential for centriole amplification and is required for CEP152 localization to the deuterosome.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC78 Gene

Genomics for CCDC78 Gene

Genomic Location for CCDC78 Gene

Start:
722,582 bp from pter
End:
726,954 bp from pter
Size:
4,373 bases
Orientation:
Minus strand

Genomic View for CCDC78 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CCDC78 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC78 Gene

Regulatory Elements for CCDC78 Gene

Proteins for CCDC78 Gene

  • Protein details for CCDC78 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A2IDD5-CCD78_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 78
    Protein Accession:
    A2IDD5
    Secondary Accessions:
    • B4DNY4
    • B4E1U6
    • Q05BY7
    • Q05CA0
    • Q6T2V5
    • Q6ZR33
    • Q8IUR3
    • Q8NAY7
    • Q96S12

    Protein attributes for CCDC78 Gene

    Size:
    438 amino acids
    Molecular mass:
    48521 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAK61249.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC78 Gene

neXtProt entry for CCDC78 Gene

Proteomics data for CCDC78 Gene at MOPED

Post-translational modifications for CCDC78 Gene

No Post-translational modifications

Other Protein References for CCDC78 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCDC78 Gene

Domains for CCDC78 Gene

Protein Domains for CCDC78 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

A2IDD5

UniProtKB/Swiss-Prot:

CCD78_HUMAN
Family:
  • Belongs to the CCDC78 family.:
    • A2IDD5
genes like me logo Genes that share domains with CCDC78: view

No data available for Gene Families for CCDC78 Gene

Function for CCDC78 Gene

Molecular function for CCDC78 Gene

UniProtKB/Swiss-Prot Function: Component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles. Deuterosome-mediated centriole amplification occurs in terminally differentiated multiciliated cells (G1/0) and not in S phase. Essential for centriole amplification and is required for CEP152 localization to the deuterosome.

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for CCDC78 Gene

Localization for CCDC78 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC78 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, perinuclear region. Cell membrane, sarcolemma. Sarcoplasmic reticulum. Note=Localizes to centrioles and deuterosome. Found primarily in the perinuclear region as well as along the sarcolemmal membrane and in reticular pattern within the sarcoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCDC78 Gene COMPARTMENTS Subcellular localization image for CCDC78 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 5
cytosol 4
nucleus 3

Gene Ontology (GO) - Cellular Components for CCDC78 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005814 centriole IDA 24075808
GO:0016529 sarcoplasmic reticulum IDA 22818856
GO:0042383 sarcolemma IDA 22818856
GO:0048471 perinuclear region of cytoplasm IDA 22818856
genes like me logo Genes that share ontologies with CCDC78: view

Pathways for CCDC78 Gene

SuperPathways for CCDC78 Gene

No Data Available

Interacting Proteins for CCDC78 Gene

Selected Interacting proteins: A2IDD5-CCD78_HUMAN for CCDC78 Gene via I2D

Symbol External ID(s) Details
MEF2D

Gene Ontology (GO) - Biological Process for CCDC78 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003009 skeletal muscle contraction IMP 22818856
GO:0030030 cell projection organization IEA --
GO:0098535 de novo centriole assembly IDA 24075808
genes like me logo Genes that share ontologies with CCDC78: view

No data available for Pathways by source for CCDC78 Gene

Transcripts for CCDC78 Gene

Unigene Clusters for CCDC78 Gene

Coiled-coil domain containing 78:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC78 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8a ·
SP1: -
SP2: - - -
SP3: - - - - - - - - -
SP4: - - - - - - - -
SP5: - -
SP6: - - -
SP7: - - - - - -
SP8: - - - - - - - - - -
SP9: - - - - -
SP10:
SP11: -
SP12: - -
SP13:

ExUns: 8b · 8c · 8d ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for CCDC78 Gene

GeneLoc Exon Structure for
CCDC78
ECgene alternative splicing isoforms for
CCDC78

Expression for CCDC78 Gene

mRNA expression in normal human tissues for CCDC78 Gene

mRNA differential expression in normal tissues according to GTEx for CCDC78 Gene

This gene is overexpressed in Brain - Caudate (basal ganglia) (5.0), Brain - Putamen (basal ganglia) (5.0), and Fallopian Tube (4.0).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for CCDC78 Gene

SOURCE GeneReport for Unigene cluster for CCDC78 Gene Hs.381943

mRNA Expression by UniProt/SwissProt for CCDC78 Gene

A2IDD5-CCD78_HUMAN
Tissue specificity: Expressed primarily in skeletal muscle.
genes like me logo Genes that share expressions with CCDC78: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CCDC78 Gene

Orthologs for CCDC78 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC78 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC78 35
  • 98.82 (n)
  • 98.53 (a)
cow
(Bos Taurus)
Mammalia CCDC78 35
  • 72.62 (n)
  • 60.46 (a)
CCDC78 36
  • 60 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC78 35
  • 71.08 (n)
  • 60.26 (a)
CCDC78 36
  • 38 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc78 35
  • 70.46 (n)
  • 60.28 (a)
Ccdc78 16
Ccdc78 36
  • 49 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCDC78 36
  • 20 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc78 35
  • 70.72 (n)
  • 57.63 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 25 (a)
OneToMany
-- 36
  • 20 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia CCDC78 36
  • 35 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ccdc78 36
  • 19 (a)
OneToOne
Species with no ortholog for CCDC78:
  • 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • 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)

Evolution for CCDC78 Gene

ENSEMBL:
Gene Tree for CCDC78 (if available)
TreeFam:
Gene Tree for CCDC78 (if available)

Paralogs for CCDC78 Gene

No data available for Paralogs for CCDC78 Gene

Variants for CCDC78 Gene

Sequence variations from dbSNP and Humsavar for CCDC78 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs2071950 Benign, - 724,692(+) CTGCC(A/G)GGCGC missense, reference, downstream-variant-500B, nc-transcript-variant
rs4984920 -- 723,341(+) TCCGT(A/G)TATAG intron-variant
rs4984921 -- 724,520(+) GGCGG(C/T)GGGCT intron-variant, downstream-variant-500B, nc-transcript-variant
rs7185683 -- 723,556(+) GCGCC(C/G)TGCTC intron-variant, downstream-variant-500B
rs11860108 -- 723,558(+) GCCCT(A/G)CTCCC intron-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for CCDC78 Gene

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
nsv904707 CNV Loss 21882294
nsv526903 CNV Loss 19592680
dgv2475n71 CNV Loss 21882294
dgv2479n71 CNV Loss 21882294
nsv471063 CNV Loss 18288195
dgv2485n71 CNV Loss 21882294
nsv904759 CNV Loss 21882294
nsv516590 CNV Loss 19592680
dgv2488n71 CNV Loss 21882294
nsv904781 CNV Gain 21882294
nsv471065 CNV Gain 18288195
dgv2490n71 CNV Loss 21882294
nsv9321 CNV Gain+Loss 18304495
dgv2491n71 CNV Loss 21882294
nsv904796 CNV Loss 21882294
nsv904797 CNV Loss 21882294
dgv2492n71 CNV Loss 21882294
nsv457311 CNV Loss 19166990
dgv2495n71 CNV Loss 21882294
nsv904812 CNV Loss 21882294
dgv2496n71 CNV Loss 21882294
dgv2497n71 CNV Loss 21882294

Relevant External Links for CCDC78 Gene

HapMap Linkage Disequilibrium report
CCDC78
Human Gene Mutation Database (HGMD)
CCDC78

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC78 Gene

Disorders for CCDC78 Gene

(1) OMIM Diseases for CCDC78 Gene (614666)

UniProtKB/Swiss-Prot

CCD78_HUMAN
  • Myopathy, centronuclear, 4 (CNM4) [MIM:614807]: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. {ECO:0000269 PubMed:22818856}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CCDC78

Human Genome Epidemiology (HuGE) Navigator
CCDC78
genes like me logo Genes that share disorders with CCDC78: view

Publications for CCDC78 Gene

  1. Deuterosome-mediated centriole biogenesis. (PMID: 24075808) Klos Dehring D.A. … Mitchell B.J. (Dev. Cell 2013) 2 3 4
  2. Dominant mutation of ccdc78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. (PMID: 22818856) Majczenko K. … Dowling J.J. (Am. J. Hum. Genet. 2012) 3 4
  3. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PMID: 11157797) Daniels R.J. … Higgs D.R. (Hum. Mol. Genet. 2001) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3

Products for CCDC78 Gene

Sources for CCDC78 Gene

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