CCBE1 (collagen and calcium binding EGF domains 1)

2010-02-01  

Identity

HGNC
LOCATION
18q21.32
LOCUSID
ALIAS
HKLLS1
FUSION GENES

Other Information

Locus ID:

NCBI: 147372
MIM: 612753
HGNC: 29426
Ensembl: ENSG00000183287

Variants:

dbSNP: 147372
ClinVar: 147372
TCGA: ENSG00000183287
COSMIC: CCBE1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183287ENST00000398179A0A0A0MS88
ENSG00000183287ENST00000439986Q6UXH8
ENSG00000183287ENST00000589419K7EQ81
ENSG00000183287ENST00000649564Q6UXH8
ENSG00000183287ENST00000650467A0A3B3IRL6

Expression (GTEx)

0
50
100
150

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
185198262008Molecular genetics of successful smoking cessation: convergent genome-wide association study results.130
199356642009Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.72
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
217784312011CCBE1 is essential for mammalian lymphatic vascular development and enhances the lymphangiogenic effect of vascular endothelial growth factor-C in vivo.61
245528332014CCBE1 enhances lymphangiogenesis via A disintegrin and metalloprotease with thrombospondin motifs-3-mediated vascular endothelial growth factor-C activation.47
199112002010Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.33
284190782017Targeting of CCBE1 by miR-330-3p in human breast cancer promotes metastasis.18
286878072017Efficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1.16
199357922010Collagen and calcium-binding EGF domains 1 is frequently inactivated in ovarian cancer by aberrant promoter hypermethylation and modulates cell migration and survival.15
258146922015Functional Dissection of the CCBE1 Protein: A Crucial Requirement for the Collagen Repeat Domain.15

Citation

Dessen P

CCBE1 (collagen and calcium binding EGF domains 1)

Atlas Genet Cytogenet Oncol Haematol. 2010-02-01

Online version: http://atlasgeneticsoncology.org/gene/51347/ccbe1-(collagen-and-calcium-binding-egf-domains-1)