Property Summary

NCBI Gene PubMed Count 20
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 5.9e-04
Atopic dermatitis -1.500 1.3e-03
non-small cell lung cancer -2.485 2.3e-23
breast carcinoma -1.200 3.5e-04
fibroadenoma -1.500 1.0e-02
lung adenocarcinoma -3.500 7.1e-20
sonic hedgehog group medulloblastoma -1.100 2.5e-03
aldosterone-producing adenoma -1.621 9.0e-03
lung carcinoma -2.000 3.2e-16
ductal carcinoma in situ -1.300 1.1e-03
invasive ductal carcinoma -1.500 3.8e-04
ovarian cancer -1.400 2.9e-04

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.
18519826 Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18466450 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MVPPPPSRGGAARGQLGRSLGPLLLLLALGHTWTYREEPEDGDREICSESKIATTKYPCLKSSGELTTCY      1 - 70
RKKCCKGYKFVLGQCIPEDYDVCAEAPCEQQCTDNFGRVLCTCYPGYRYDRERHRKREKPYCLDIDECAS     71 - 140
SNGTLCAHICINTLGSYRCECREGYIREDDGKTCTRGDKYPNDTGHEKSENMVKAGTCCATCKEFYQMKQ    141 - 210
TVLQLKQKIALLPNNAADLGKYITGDKVLASNTYLPGPPGLPGGQGPPGSPGPKGSPGFPGMPGPPGQPG    211 - 280
PRGSMGPMGPSPDLSHIKQGRRGPVGPPGAPGRDGSKGERGAPGPRGSPGPPGSFDFLLLMLADIRNDIT    281 - 350
ELQEKVFGHRTHSSAEEFPLPQEFPSYPEAMDLGSGDDHPRRTETRDLRAPRDFYP                  351 - 406
//

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.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19935792 2010 Collagen and calcium-binding EGF domains 1 is frequently inactivated in ovarian cancer by aberrant promoter hypermethylation and modulates cell migration and survival.
19935664 2009 Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
19911200 2010 Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.
19287381 2009 Ccbe1 is required for embryonic lymphangiogenesis and venous sprouting.
18519826 2008 Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
18466450 2007 Multilocus analysis of GAW15 NARAC chromosome 18 case-control data.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11853319 2001 Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins.