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Ccbe1 Gene Detail
Summary
  • Symbol
    Ccbe1
  • Name
    collagen and calcium binding EGF domains 1
  • Synonyms
    4933426F18Rik, 9430093N24Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2445053
    NCBI Gene: 320924
  • Gene Overview
    MyGene.info: CCBE1
Location & Maps
more
  • Sequence Map
    Chr18:66045302-66302739 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      257438 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 39.13 cM, cytoband E1
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    CCBE1, collagen and calcium binding EGF domains 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CCBE1, collagen and calcium binding EGF domains 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HKLLS1
  • Links
    NCBI Gene ID: 147372
    neXtProt AC: NX_Q6UXH8

  • Chr Location
    18q21.32; chr18:59430939-59697643 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 15852
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: CCBE1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human CCBE1 associations

Human Disease Mouse Models
       Hennekam Lymphangiectasia-Lymphedema Syndrome 1; HKLLS1   OMIM: 235510
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    18 phenotypes from 3 alleles in 4 genetic backgrounds
    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.
Mice homozygous for a knock-out allele exhibit prenatal lethality associated with edema and absence of lymphatic vessels.
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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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000028218 VEGA Gene Model | MGI Sequence Detail 257438 C57BL/6J ±  kb
transcript OTTMUST00000069908 VEGA | MGI Sequence Detail 1631 Not Applicable  
polypeptide OTTMUSP00000035567 VEGA | MGI Sequence Detail 408 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    2500 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000005096 collagen and calcium-binding EGF domain-containing protein 1
  • InterPro Domains
    IPR008160 Collagen triple helix repeat
    IPR018097 EGF-like calcium-binding, conserved site
    IPR001881 EGF-like calcium-binding domain
    IPR013032 EGF-like, conserved site
    IPR000742 EGF-like domain
    IPR000152 EGF-type aspartate/asparagine hydroxylation site
Molecular
Reagents
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  • All nucleic 13
    cDNA 12
    Other 1

    Microarray probesets 5
Other
Accession IDs
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MGI:1918322
References
more
  • Summaries
    All 28
    Developmental Gene Expression 5
    Gene Ontology 6
    Phenotypes 6
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:213127 Jakus Z, et al., Lymphatic function is required prenatally for lung inflation at birth. J Exp Med. 2014 May 5;211(5):815-26

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
09/13/2016
MGI 6.05
The Jackson Laboratory