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Gene

ccbe1

ID
ZDB-GENE-090506-7
Name
collagen and calcium binding EGF domains 1
Symbol
ccbe1 Nomenclature History
Previous Names
  • fof (1)
  • full of fluid (1)
Type
protein_coding_gene
Location
Chr: 21 Mapping Details/Browsers
Description
Predicted to enable calcium ion binding activity. Involved in venous blood vessel morphogenesis. Acts upstream of or within vascular endothelial growth factor signaling pathway and vasculature development. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. Is expressed in several structures, including axial vasculature; epiphysis; head; intermediate mesoderm; and myoseptum. Human ortholog(s) of this gene implicated in Hennekam syndrome. Orthologous to human CCBE1 (collagen and calcium binding EGF domains 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
7 figures from 6 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
13 figures from 8 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ccbe1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Hennekam syndrome Alliance Hennekam lymphangiectasia-lymphedema syndrome 1 235510
Associated With ccbe1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR018097 EGF-like calcium-binding, conserved site
Domain IPR000742 EGF-like domain
Domain IPR001881 EGF-like calcium-binding domain
PTM IPR000152 EGF-type aspartate/asparagine hydroxylation site
Repeat IPR008160 Collagen triple helix repeat
Domain Details Per Protein
Protein Length Collagen triple helix repeat EGF-like calcium-binding, conserved site EGF-like calcium-binding domain EGF-like domain EGF-type aspartate/asparagine hydroxylation site
UniProtKB:A8WGB1 401
UniProtKB:A0A0R4IPE1 62
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations