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Ccdc85c Gene Detail
Summary
  • Symbol
    Ccdc85c
  • Name
    coiled-coil domain containing 85C
  • Synonyms
    Gm9010, hhy
  • Feature Type
    protein coding gene
  • IDs
    MGI:3644008
    NCBI Gene: 668158
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr12:108203602-108275425 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      71824 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 59.23 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    CCDC85C, coiled-coil domain containing 85C
  • Vertebrate Orthologs
    8
  • Human Ortholog
    CCDC85C, coiled-coil domain containing 85C
    Orthology source: HomoloGene, HGNC
  • Links
    NCBI Gene ID: 317762
    neXtProt AC: NX_A6NKD9
    UniProt: A6NKD9

  • Chr Location
    14q32.2; chr14:99511266-99604390 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Ccdc85c mouse models

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 1 allele in 1 genetic background
    6 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.
Homozygous mutant mice display hydrocephalus, intracranial hemorrhage due to ventricular dilatation, and heterotopia in the subcortical regions. Hydroencephaly usually becomes evident before 15 weeks of age and affected animals die within several days after notice.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    5
  • GO References
    2
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
less
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
    13
  • Tissues
    9
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000084883 Ensembl Gene Model | MGI Sequence Detail 71824 C57BL/6J ±  kb
    transcript ENSMUST00000136175 Ensembl | MGI Sequence Detail 1302 Not Applicable  
    polypeptide ENSMUSP00000125757 Ensembl | MGI Sequence Detail 433 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      497 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 1
      Primer pair 1
    Other
    Accession IDs
    less
    MGI:3505572
    References
    more
    • Summaries
      All 15
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 2
      Phenotypes 6
    • Earliest
      J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
    • Latest
      J:180189 Mori N, et al., Ccdc85c encoding a protein at apical junctions of radial glia is disrupted in hemorrhagic hydrocephalus (hhy) mice. Am J Pathol. 2012 Jan;180(1):314-27
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    05/08/2018
    MGI 6.12     		The Jackson Laboratory