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Ccdc39 Gene Detail
Summary
  • Symbol
    Ccdc39
  • Name
    coiled-coil domain containing 39
  • Synonyms
    4921507O14Rik, b2b1304Clo, b2b1735Clo, b2b2025.1Clo, D3Ertd789e
  • Feature Type
    protein coding gene
  • IDs
    MGI:1289263
    NCBI Gene: 51938
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
Homology
more
  • Human Ortholog
    CCDC39, coiled-coil domain containing 39
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CCDC39, coiled-coil domain containing 39
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CILD14, FAP59
  • Links
    NCBI Gene ID: 339829
    neXtProt AC: NX_Q9UFE4

  • Chr Location
    3q26.33; chr3:180614008-180679495 (-)  GRCh38.p2

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

Human Disease Mouse Models
       Ciliary Dyskinesia, Primary, 14; CILD14   OMIM: 613807 View 3 models
Click on a disease name to see all genes associated with that disease.

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

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    7
  • Chemically induced (ENU)
    3
  • Radiation induced
    1
  • Targeted
    3
  • Genomic Mutations
    1 involving Ccdc39
  • Incidental Mutations
Chemically induced mutations in this gene result in situs inversus totalis with dextrocardia, double outlet right ventricle and atrial septal defects, kidney abnormalities including cysts and hydronephrosis, and immotile tracheal airway cilia.
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
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  • cDNA Data
Interactions
less
Sequences &
Gene Models
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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
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000032363 coiled-coil domain-containing protein 39
Molecular
Reagents
less
  • All nucleic 19
    cDNA 17
    Primer pair 1
    Other 1

    Microarray probesets 9
Other
Accession IDs
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MGI:1914785, MGI:2139706, MGI:2139809, MGI:5316773, MGI:5438051, MGI:5554524
References
more
  • Summaries
    All 33
    Diseases 1
    Gene Ontology 4
    Phenotypes 8
  • 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:222159 Li Y, et al., Global genetic analysis in mice unveils central role for cilia in congenital heart disease. Nature. 2015 May 28;521(7553):520-4

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
05/17/2016
MGI 6.03
The Jackson Laboratory