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

Involved in lymphangiogenesis; sprouting angiogenesis; and venous blood vessel morphogenesis. Acts upstream of or within blood vessel morphogenesis; vascular endothelial growth factor signaling pathway; and venous endothelial cell migration involved in lymph vessel development. Predicted to be located in extracellular region. 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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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
Family	IPR050751	Extracellular matrix structural protein
PTM	IPR000152	EGF-type aspartate/asparagine hydroxylation site
Repeat	IPR008160	Collagen triple helix repeat