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Ccdc39 Gene Detail
Summary
  • Symbol
    Ccdc39
  • Name
    coiled-coil domain containing 39
  • Synonyms
    4921507O14Rik, b2b1304Clo, b2b1735Clo, b2b2025.1Clo, D3Ertd789e, prh
  • Feature Type
    protein coding gene
  • IDs
    MGI:1289263
    NCBI Gene: 51938
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr3:33812362-33844310 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      31949 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 16.32 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    CCDC39, coiled-coil domain containing 39
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CCDC39, coiled-coil domain containing 39
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CILD14, FAP59
  • Links
    NCBI Gene ID: 339829
    neXtProt AC: NX_Q9UFE4
    UniProt: Q9UFE4

  • Chr Location
    3q26.33; chr3:180614008-180679495 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    4 with Ccdc39 mouse models; 1 with human CCDC39 associations

Human Disease Mouse Models
      
IDs
View 3 models
      
IDs
View 1 model
IDs
View 2 models
IDs
View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    49 phenotypes from 6 alleles in 6 genetic backgrounds
    43 images
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
ENU induced mutations result in situs inversus totalis with dextrocardia, double outlet right ventricle and atrial septal defects, renal anomalies including cysts and hydronephrosis, and immotile tracheal airway cilia. One ENU induced mutation causes ependymal motile cilia defects and hydrocephalus.
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 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
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000026483 VEGA Gene Model | MGI Sequence Detail 31949 C57BL/6J ±  kb
    transcript OTTMUST00000065474 VEGA | MGI Sequence Detail 3606 Not Applicable  
    polypeptide OTTMUSP00000032639 VEGA | MGI Sequence Detail 937 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      239 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 20
      cDNA 17
      Primer pair 2
      Other 1

      Microarray probesets 9
    Other
    Accession IDs
    less
    MGI:1914785, MGI:2139706, MGI:2139809, MGI:5056360, MGI:5316773, MGI:5438051, MGI:5554524
    References
    more
    • Summaries
      All 38
      Developmental Gene Expression 2
      Diseases 3
      Gene Ontology 5
      Phenotypes 10
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:253968 Abdelhamed Z, et al., A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice. Development. 2018 Jan 9;145(1):None

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory