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Aliases for CCDC78 Gene

Aliases for CCDC78 Gene

  • Coiled-Coil Domain Containing 78 2 3 5
  • C16orf25 3 4
  • HsCCDC78 3 4
  • JFP10 3
  • CNM4 3

External Ids for CCDC78 Gene

Previous HGNC Symbols for CCDC78 Gene

  • C16orf25

Previous GeneCards Identifiers for CCDC78 Gene

  • GC16M000713
  • GC16M000772
  • GC16M000694
  • GC16M000738
  • GC16M000813

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

Regulatory Elements for CCDC78 Gene

Genomic Location for CCDC78 Gene

Chromosome:
16
Start:
722,582 bp from pter
End:
726,954 bp from pter
Size:
4,373 bases
Orientation:
Minus strand

Genomic View for CCDC78 Gene

Genes around CCDC78 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC78 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC78 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC78 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCDC78 Gene

Domains & Families for CCDC78 Gene

Protein Domains for CCDC78 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

A2IDD5

UniProtKB/Swiss-Prot:

CCD78_HUMAN :
  • Belongs to the CCDC78 family.
Family:
  • Belongs to the CCDC78 family.
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.

Phenotypes for CCDC78 Gene

GenomeRNAi human phenotypes for CCDC78:
genes like me logo Genes that share phenotypes with CCDC78: view

Human Phenotype Ontology for CCDC78 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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
cytoskeleton 5
endoplasmic reticulum 5
plasma membrane 5
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for CCDC78 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0048471 perinuclear region of cytoplasm IDA 22818856
GO:0098536 deuterosome IDA 24075808
genes like me logo Genes that share ontologies with CCDC78: view

Pathways & Interactions 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

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC78 Gene

Drugs & Compounds for CCDC78 Gene

No Compound Related Data Available

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) (x5.0), Brain - Putamen (basal ganglia) (x5.0), and Fallopian Tube (x4.0).

Protein differential expression in normal tissues from HIPED for CCDC78 Gene

This gene is overexpressed in Nasal epithelium (68.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CCDC78: view

Protein tissue co-expression partners for CCDC78 Gene

- Elite partner

Primer Products

In Situ Assay Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia CCDC78 35
  • 98.82 (n)
  • 98.53 (a)
rat
(Rattus norvegicus)
Mammalia Ccdc78 35
  • 70.72 (n)
  • 57.63 (a)
oppossum
(Monodelphis domestica)
Mammalia CCDC78 36
  • 20 (a)
OneToOne
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
rs2071950 - 724,692(+) CTGCC(A/G)GGCGC reference, missense, utr-variant-3-prime
rs4984920 -- 723,341(+) TCCGT(A/G)TATAG intron-variant
rs4984921 -- 724,520(+) GGCGG(C/T)GGGCT intron-variant, utr-variant-3-prime
rs7185683 -- 723,556(+) GCGCC(C/G)TGCTC intron-variant
rs11860108 -- 723,558(+) GCCCT(A/G)CTCCC intron-variant

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

Variation tolerance for CCDC78 Gene

Residual Variation Intolerance Score: 98.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.27; 40.67% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(3) MalaCards diseases for CCDC78 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
myopathy, centronuclear, 4
  • centronuclear myopathy 4
congenital myopathy with internal nuclei and atypical cores
  • myopathy, centronuclear, 4
myopathy, centronuclear
  • centronuclear myopathy, autosomal, modifier of
- elite association - COSMIC cancer census association via MalaCards

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC78
genes like me logo Genes that share disorders with CCDC78: view

No data available for Genatlas for CCDC78 Gene

Publications for CCDC78 Gene

  1. Deuterosome-mediated centriole biogenesis. (PMID: 24075808) Klos Dehring D.A. … Mitchell B.J. (Dev. Cell 2013) 2 3 4 67
  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
  3. New genetic associations detected in a host response study to hepatitis B vaccine. (PMID: 20237496) Davila S. … Seielstad M. (Genes Immun. 2010) 3
  4. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3

Products for CCDC78 Gene

Sources for CCDC78 Gene

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