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Ccdc78 Gene Detail
Summary
  • Symbol
    Ccdc78
  • Name
    coiled-coil domain containing 78
  • Synonyms
    LOC381077, LOC381146
  • Feature Type
    protein coding gene
  • IDs
    MGI:2685784
    NCBI Gene: 381077
  • Gene Overview
    MyGene.info: CCDC78
Location & Maps
more
  • Sequence Map
    Chr17:25786580-25790513 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      3934 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 12.89 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    CCDC78, coiled-coil domain containing 78
  • Vertebrate Orthologs
    7
  • Human Ortholog
    CCDC78, coiled-coil domain containing 78
    Orthology source: HomoloGene
  • Synonyms
    C16orf25, CNM4, hsCCDC78, JFP10
  • Links
    NCBI Gene ID: 124093
    neXtProt AC: NX_A2IDD5

  • Chr Location
    16p13.3; chr16:722582-726881 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human CCDC78 associations

Human Disease Mouse Models
       Myopathy, Centronuclear, 4; CNM4   OMIM: 614807
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    7 phenotype references
  • All Mutations and Alleles
    5
  • Endonuclease-mediated
    1
  • Gene trapped
    1
  • Radiation induced
    2
  • Targeted
    1
  • Genomic Mutations
    2 involving Ccdc78
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000071202 Ensembl Gene Model | MGI Sequence Detail 3934 C57BL/6J ±  kb
transcript ENSMUST00000095500 Ensembl | MGI Sequence Detail 1651 Not Applicable  
polypeptide ENSMUSP00000093155 Ensembl | MGI Sequence Detail 437 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    19 from dbSNP Build 142
Protein
Information
less
  • UniProt
    1 Sequence
  • InterPro Domains
    IPR029329 Domain of unknown function DUF4472
Molecular
Reagents
less
  • All nucleic 6
    cDNA 6

    Microarray probesets 1
Other
Accession IDs
less
MGI:2685796
References
more
  • Summaries
    All 22
    Gene Ontology 3
    Phenotypes 7
  • Earliest
    J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
  • Latest
    J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory