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Ccbe1
Gene Detail
 Symbol
Name
ID
Ccbe1
collagen and calcium binding EGF domains 1
MGI:2445053
Synonyms 4933426F18Rik, 9430093N24Rik
Feature Type protein coding gene
Genetic Map
Chromosome 18
39.13 cM, cytoband E1
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr18:66045302-66302739 bp, - strand
From VEGA annotation of GRCm38

  257438 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:15852  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Ccbe1

Human
homologs
Human Homolog CCBE1, collagen and calcium binding EGF domains 1
NCBI Gene ID 147372
neXtProt AC  NX_Q6UXH8
Human Chr (Location)  18q21.32; chr18:59430939-59697838 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human CCBE1
Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele exhibit prenatal lethality associated with edema and absence of lymphatic vessels.
 
Interactions
Ccbe1 interacts with 362 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (17 annotations)
Process angiogenesis, lymphangiogenesis, ...
Component collagen trimer, extracellular matrix, ...
Function calcium ion binding, collagen binding, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (104)    Tissues (38)   
Theiler Stages: 10, 11, 12, 13, 14, 15, 17
Assay TypeResults
Immunohistochemistry 4
RNA in situ 100
cDNA source data(12)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(13) cDNA(12) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000028218 (Evidence)
Ensembl Gene ModelENSMUSG00000046318 (Evidence)
Entrez Gene320924 (Evidence)
UniGene442049
DFCITC1587060, TC1593703, TC1594494, TC1659528, TC1693025
NIA Mouse Gene IndexU038507
Consensus CDS ProjectCCDS29314.1
International Mouse Knockout Project StatusCcbe1
Sequences
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 sequences
All sequences(42) RefSeq(4) UniProt(3)
Polymorphisms SNPs within 2kb(2529 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008160 Collagen triple helix repeat
InterPro IPR026823 Complement Clr-like EGF domain
InterPro IPR001881 EGF-like calcium-binding
InterPro IPR018097 EGF-like calcium-binding, conserved site
InterPro IPR013032 EGF-like, conserved site
InterPro IPR000152 EGF-type aspartate/asparagine hydroxylation site
InterPro IPR000742 Epidermal growth factor-like domain
Protein Ontology PR:000005096 collagen and calcium-binding EGF domain-containing protein 1
References (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:209725 Jeltsch M, et al., CCBE1 enhances lymphangiogenesis via a disintegrin and metalloprotease with thrombospondin motifs-3-mediated vascular endothelial growth factor-C activation. Circulation. 2014 May 13;129(19):1962-71
All references(30)
Other
accession IDs
MGI:1918322

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
08/19/2014
MGI 5.19
The Jackson Laboratory