Gene

CCBE1

Species
Homo sapiens
Symbol
CCBE1
Name
collagen and calcium binding EGF domains 1
Synonyms
  • collagen and calcium-binding EGF domain-containing protein 1
  • FLJ30681
Biotype
protein coding gene
Automated Description
Enables collagen binding activity and protease binding activity. Involved in lymphangiogenesis; positive regulation of gene expression; and positive regulation of vascular endothelial growth factor signaling pathway. Located in extracellular matrix and extracellular space. Implicated in Hennekam syndrome.
RGD Description
This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24034
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
59.45M59.50M59.55M59.60M59.65M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions