Property Summary

NCBI Gene PubMed Count 20
Grant Count 9
R01 Count 5
Funding $1,113,292.33
PubMed Score 17.13
PubTator Score 16.27

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
osteosarcoma -1.929 0.001
Atopic dermatitis -1.500 0.001
non-small cell lung cancer -2.485 0.000
breast carcinoma -1.200 0.000
fibroadenoma -1.500 0.010
lung adenocarcinoma -3.500 0.000
sonic hedgehog group medulloblastoma -1.100 0.002
aldosterone-producing adenoma -1.621 0.009
lung carcinoma -2.000 0.000
ductal carcinoma in situ -1.300 0.001
invasive ductal carcinoma -1.500 0.000
ovarian cancer -1.400 0.000

Gene RIF (12)

PMID Text
26686525 characterization of Hennekam Syndrome phenotypes in two Turkish siblings with protein mutation
25814692 Collagen domains of CCBE1 are crucial for the activation of VEGFC in vitro and in vivo. The EGF domains of CCBE1 are dispensable for regulation of VEGFC processing in vitro, however, they are necessary for full lymphangiogenic activity of CCBE1 in vivo.
24552833 CCBE1 enhances lymphangiogenesis via A disintegrin and metalloprotease with thrombospondin motifs-3-mediated vascular endothelial growth factor-C activation.
24086631 Both siblings harbored a homozygous mutation in CCBE1.
22239599 The study has shown that CCBE1 mutations are not a major contributor to non-immune hydrops fetalis.
21778431 Human CCBE1 strongly enhances vascular endothelial growth factor-C-mediated lymphangiogenesis in a corneal micropocket assay
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19935792 Loss of CCBE1 expression may promote ovarian carcinogenesis by enhancing migration & cell survival. CCBE1 is a new candidate tumour suppressor in ovarian cancer.
19935664 Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
19911200 Homozygous cysteine to serine change and SNPS in CCBE1 were identified patients.
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AA Sequence

MVPPPPSRGGAARGQLGRSLGPLLLLLALGHTWTYREEPEDGDREICSESKIATTKYPCLKSSGELTTCY      1 - 70
RKKCCKGYKFVLGQCIPEDYDVCAEAPCEQQCTDNFGRVLCTCYPGYRYDRERHRKREKPYCLDIDECAS     71 - 140
SNGTLCAHICINTLGSYRCECREGYIREDDGKTCTRGDKYPNDTGHEKSENMVKAGTCCATCKEFYQMKQ    141 - 210
TVLQLKQKIALLPNNAADLGKYITGDKVLASNTYLPGPPGLPGGQGPPGSPGPKGSPGFPGMPGPPGQPG    211 - 280
PRGSMGPMGPSPDLSHIKQGRRGPVGPPGAPGRDGSKGERGAPGPRGSPGPPGSFDFLLLMLADIRNDIT    281 - 350
ELQEKVFGHRTHSSAEEFPLPQEFPSYPEAMDLGSGDDHPRRTETRDLRAPRDFYP                  351 - 406
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Text Mined References (23)

PMID Year Title
26686525 2016 A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression.
25814692 2015 Functional Dissection of the CCBE1 Protein: A Crucial Requirement for the Collagen Repeat Domain.
25416956 2014 A proteome-scale map of the human interactome network.
24939585 2015 Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.
24552833 2014 CCBE1 enhances lymphangiogenesis via A disintegrin and metalloprotease with thrombospondin motifs-3-mediated vascular endothelial growth factor-C activation.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24086631 2013 CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.
23857890 2013 Genome-wide association analysis accounting for environmental factors through propensity-score matching: application to stressful live events in major depressive disorder.
22239599 2012 CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis.
21778431 2011 CCBE1 is essential for mammalian lymphatic vascular development and enhances the lymphangiogenic effect of vascular endothelial growth factor-C in vivo.
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