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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
  • Coiled-Coil Domain-Containing Protein 78 3
  • 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
  • GC16M000836
  • GC16M000861
  • GC16M000877
  • GC16M000895
  • GC16M000917

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.

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.

Additional gene information for CCDC78 Gene

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

Genomics for CCDC78 Gene

GeneHancer (GH) Regulatory Elements for CCDC78 Gene

Promoters and enhancers for CCDC78 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
GH16I000726 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 -0.9 -869 3.5 HDGF HNRNPUL1 CLOCK SIN3A ZNF2 ZNF48 ETS1 GTF3C2 POLR2B GLIS2 HAGHL CCDC78 ENSG00000261505 ENSG00000260051 WDR90 NARFL TELO2 WASH4P AXIN1 UNKL
GH16I000725 Enhancer 0.5 ENCODE 550.8 +1.2 1168 0.1 ZFHX2 GLIS2 POLR2A ZNF692 ZEB2 ZEB1 EGR2 CCDC78 HAGHL PIR42074
GH16I000718 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.4 +6.2 6191 3.6 HDGF PKNOX1 SIN3A ZNF2 ZBTB7B POLR2B ZNF207 ZNF143 DEK SP3 FAM173A PIR42074 LUC7L IFT140 UBE2I CRAMP1 WDR24 ENSG00000268836 NARFL UNKL
GH16I000739 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 0.4 -13.8 -13777 1.9 PKNOX1 CLOCK MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 NARFL JMJD8 ENSG00000261505 ENSG00000260954 METTL26 UBE2I WDR90 RGS11 TELO2 CCDC78
GH16I000737 Promoter/Enhancer 1.1 EPDnew ENCODE 0.4 -11.3 -11284 1.5 HDGF SP2 DPF2 KLF5 E4F1 FOXK2 POLR2A GABPB1 NBN ATF7 NARFL CCDC78
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CCDC78 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCDC78 gene promoter:

Genomic Locations for CCDC78 Gene

Genomic Locations for CCDC78 Gene
chr16:722,582-726,954
(GRCh38/hg38)
Size:
4,373 bases
Orientation:
Minus strand
chr16:772,582-776,954
(GRCh37/hg19)

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

Post-translational modifications for CCDC78 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC78 Gene

Domains & Families for CCDC78 Gene

Gene Families for CCDC78 Gene

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

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

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

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

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
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 CCDC78 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
endoplasmic reticulum 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:0005814 centriole IDA,IEA 24075808
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CCDC78: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CCDC78 Gene

Pathways & Interactions for CCDC78 Gene

SuperPathways for CCDC78 Gene

No Data Available

Interacting Proteins for CCDC78 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000293889%0d%0a9606.ENSP00000262878%0d%0a9606.ENSP00000345206%0d%0a
Selected Interacting proteins: ENSP00000293889 A2IDD5-CCD78_HUMAN for CCDC78 Gene via STRING IID

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 involved in multi-ciliated epithelial cell differentiation IDA 24075808
genes like me logo Genes that share ontologies with CCDC78: view

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for CCDC78 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CCDC78 Gene:

CCDC78

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.

Evidence on tissue expression from TISSUES for CCDC78 Gene

  • Lung(4.2)
  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC78 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • head
genes like me logo Genes that share expression patterns 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 33
  • 98.82 (n)
cow
(Bos Taurus)
Mammalia CCDC78 33 34
  • 72.62 (n)
dog
(Canis familiaris)
Mammalia CCDC78 33 34
  • 71.08 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc78 33
  • 70.72 (n)
mouse
(Mus musculus)
Mammalia Ccdc78 33 16 34
  • 70.46 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC78 34
  • 20 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 25 (a)
OneToMany
-- 34
  • 20 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia CCDC78 34
  • 35 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ccdc78 34
  • 19 (a)
OneToOne
Species where no ortholog for CCDC78 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)
  • 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 Variation AA Info Type
rs1014754418 uncertain-significance, Myopathy, centronuclear, 4 724,365(-) C/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs138669350 uncertain-significance, likely-benign, not specified, not provided, Myopathy, centronuclear, 4 725,236(-) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, splice_donor_variant, upstream_transcript_variant
rs140104512 benign, Myopathy, centronuclear, 4 723,892(-) G/A/C 5_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs142136104 benign, not specified, Myopathy, centronuclear, 4 724,734(-) T/G 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs144396385 uncertain-significance, Myopathy, centronuclear, 4 725,237(-) G/A coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant, upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv4825n54 CNV loss 21841781
esv2422427 CNV duplication 17116639
nsv1160325 CNV duplication 26073780
nsv1160326 CNV duplication 26073780
nsv457311 CNV loss 19166990
nsv471063 CNV loss 18288195
nsv471065 CNV gain 18288195
nsv516590 CNV loss 19592680
nsv526903 CNV loss 19592680
nsv571012 CNV loss 21841781
nsv571021 CNV loss 21841781
nsv571022 CNV loss 21841781
nsv9321 CNV gain+loss 18304495
nsv952898 CNV deletion 24416366

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)

Additional Variant Information for CCDC78 Gene

Human Gene Mutation Database (HGMD)
CCDC78
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC78

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

Disorders for CCDC78 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCDC78 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
myopathy, centronuclear, 4
  • cnm4
- 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.

Additional Disease Information for 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 DA … Mitchell BJ (Developmental cell 2013) 2 3 4 58
  2. Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. (PMID: 22818856) Majczenko K … Dowling JJ (American journal of human genetics 2012) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PMID: 11157797) Daniels RJ … Higgs DR (Human molecular genetics 2001) 3 4 58
  5. New genetic associations detected in a host response study to hepatitis B vaccine. (PMID: 20237496) Davila S … Seielstad M (Genes and immunity 2010) 3 58

Products for CCDC78 Gene

Sources for CCDC78 Gene

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