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CCBE1 Gene

protein-coding   GIFtS: 52
GCID: GC18M057101

Collagen And Calcium Binding EGF Domains 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Collagen And Calcium Binding EGF Domains 11 2
Full Of Fluid Protein Homolog2 3
KIAA19833 5
Collagen And Calcium-Binding EGF Domain-Containing Protein 12

External Ids:    HGNC: 294261   Entrez Gene: 1473722   Ensembl: ENSG000001832877   OMIM: 6127535   UniProtKB: Q6UXH83   

Export aliases for CCBE1 gene to outside databases

Previous GC identifers: GC18M055253 GC18M053807


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CCBE1 Gene:
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)

GeneCards Summary for CCBE1 Gene:
CCBE1 (collagen and calcium binding EGF domains 1) is a protein-coding gene. Diseases associated with CCBE1 include hennekam syndrome, and immune hydrops fetalis. GO annotations related to this gene include collagen binding and calcium ion binding.

UniProtKB/Swiss-Prot: CCBE1_HUMAN, Q6UXH8
Function: Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during
embryogenesis

Gene Wiki entry for CCBE1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000018.10  NT_010966.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCBE1 gene promoter:
         FOXO3   RelA   NF-kappaB   FOXO3b   RORalpha1   Chx10   FOXO1a   FOXO3a   NF-kappaB1   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCBE1 promoter sequence
   Search Chromatin IP Primers for CCBE1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCBE1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q21.32   Ensembl cytogenetic band:  18q21.32   HGNC cytogenetic band: 18q21.32

CCBE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCBE1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M057101:  view genomic region     (about GC identifiers)

Start:
57,098,171 bp from pter      End:
57,364,644 bp from pter
Size:
266,474 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CCBE1_HUMAN, Q6UXH8 (See protein sequence)
Recommended Name: Collagen and calcium-binding EGF domain-containing protein 1 precursor  
Size: 406 amino acids; 44103 Da
Sequence caution: Sequence=BAB85569.1; Type=Erroneous initiation;
Secondary accessions: Q6MZX5 Q86SS2 Q8TF19
Alternative splicing: 3 isoforms:  Q6UXH8-1   Q6UXH8-2   Q6UXH8-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCBE1: NX_Q6UXH8

Explore proteomics data for CCBE1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn142, Asn182
  • Modification sites at PhosphoSitePlus

  • See CCBE1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_597716.1  
    ENSEMBL proteins: 
     ENSP00000404464   ENSP00000467710   ENSP00000381241  

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    Cloud-Clone Corp. CLIAs for CCBE1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR000742 EG-like_dom
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS
     IPR001881 EGF-like_Ca-bd_dom
     IPR013032 EGF-like_CS

    Graphical View of Domain Structure for InterPro Entry Q6UXH8

    ProtoNet protein and cluster: Q6UXH8

    2 Blocks protein domains:
    IPB001881 EGF-like calcium-binding
    IPB008160 Collagen triple helix repeat


    UniProtKB/Swiss-Prot: CCBE1_HUMAN, Q6UXH8
    Similarity: Belongs to the CCBE1 family
    Similarity: Contains 2 collagen-like domains
    Similarity: Contains 1 EGF-like domain


    CCBE1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CCBE1_HUMAN, Q6UXH8
    Function: Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during
    embryogenesis

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
    GO:0005518collagen binding IDA--
         
    CCBE1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CCBE1:
     Decreased cell number, increas  Increased number of mitotic ce 

         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ccbe1):
     cellular  hematopoietic system  homeostasis/metabolism  immune system  integument 
     liver/biliary system  mortality/aging  normal 

    CCBE1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CCBE1: Ccbe1tm1Mlkn Ccbe1tm1Lex

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCBE1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CCBE1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CCBE1

    miRNA
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    Block miRNA regulation of human, mouse, rat CCBE1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CCBE1 (see all 28):
    hsa-miR-485-5p hsa-miR-2052 hsa-miR-125a-5p hsa-miR-944 hsa-miR-1285 hsa-miR-138-2* hsa-miR-548m hsa-miR-125b
    SwitchGear 3'UTR luciferase reporter plasmidCCBE1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CCBE1
    Predesigned siRNA for gene silencing in human, mouse, rat CCBE1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: CCBE1 (NM_133459)
    Sino Biological Human cDNA Clone for CCBE1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCBE1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCBE1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CCBE1_HUMAN, Q6UXH8: Secreted (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    plasma membrane3
    cytosol2
    nucleus2
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005581collagen IEA--
    GO:0031012extracellular matrix IDA--

    CCBE1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CCBE1
    Interactions:

        Search GeneGlobe Interaction Network for CCBE1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for CCBE1 (ENSP000004044644) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SIAH2ENSP000003224574STRING: ENSP00000322457
    TOX4ENSP000002627094STRING: ENSP00000262709
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001946lymphangiogenesis ISS--
    GO:0002040sprouting angiogenesis ISS--
    GO:0010595positive regulation of endothelial cell migration IEA--
    GO:0048845venous blood vessel morphogenesis ISS--

    CCBE1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CCBE1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CCBE1 gene: 
    NM_133459.3  

    Unigene Cluster for CCBE1:

    Collagen and calcium binding EGF domains 1
    Hs.34333  [show with all ESTs]
    Unigene Representative Sequence: NM_133459
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000439986(uc002lia.3 uc002lib.3) ENST00000589116 ENST00000589419
    ENST00000398179(uc010dpq.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat CCBE1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CCBE1 (see all 28):
    hsa-miR-485-5p hsa-miR-2052 hsa-miR-125a-5p hsa-miR-944 hsa-miR-1285 hsa-miR-138-2* hsa-miR-548m hsa-miR-125b
    SwitchGear 3'UTR luciferase reporter plasmidCCBE1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CCBE1
    Predesigned siRNA for gene silencing in human, mouse, rat CCBE1
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    GenScript: all cDNA clones in your preferred vector: CCBE1 (NM_133459)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCBE1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CCBE1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CCBE1
      QuantiTect SYBR Green Assays in human, mouse, rat CCBE1
      QuantiFast Probe-based Assays in human, mouse, rat CCBE1

    Additional mRNA sequence: 

    AB075863.1 AF087966.1 AK055243.1 AY358347.1 BX640826.1 

    6 DOTS entries:

    DT.436003  DT.206387  DT.40116967  DT.40299981  DT.100016531  DT.97782836 

    Selected AceView cDNA sequences (see all 54):

    BF475853 CA487557 AW296799 AW069450 AA076427 AI754689 AY358347 BC046645 
    BU633177 AW772095 AA007640 AB075863 BM991438 BI870451 BX640826 BM926537 
    CR612948 NM_133459 AI473300 BX094521 AL542371 AK055243 AI766827 BM545869 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CCBE1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCTTTTAAA
    CCBE1 Expression
    About this image


    CCBE1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Visceral White Adipocytes Visceral White Adipose
             Visceral White Adipose
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     NULL (Uncategorized)
             CD31, CD144 positive cells
     
     Endothelium (Cardiovascular System)
             Lymphatic Endothelial Cells Lymphatic Vessels
     
     Neural Ectoderm (Nervous System)
             Neural ectoderm cells
    CCBE1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCBE1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.34333

    UniProtKB/Swiss-Prot: CCBE1_HUMAN, Q6UXH8
    Tissue specificity: Not expressed in blood or lymphatic endothelial cells

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCBE1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CCBE1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccbe11 , 5 collagen and calcium binding EGF domains 11, 5 86.62(n)1
    90.15(a)1
      18 (39.13 cM)5
    3209241  NM_178793.41  NP_848908.11 
     660453025 
    chicken
    (Gallus gallus)
    Aves CCBE11 collagen and calcium binding EGF domains 1 74.56(n)
    80.32(a)
      770043  XM_001233357.2  XP_001233358.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    78(a)
    77(a)
    many → 1
    many → 1
    AAWZ02038554(3496-11218)
    GL343335.1(688643-895856)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ccbe11 collagen and calcium binding EGF domains 1 72.57(n)
    75.48(a)
      100495021  XM_002936675.2  XP_002936721.2 
    zebrafish
    (Danio rerio)
    Actinopterygii ccbe11 collagen and calcium binding EGF domains 1 66.39(n)
    68.85(a)
      555629  NM_001163923.1  NP_001157395.1 


    ENSEMBL Gene Tree for CCBE1 (if available)
    TreeFam Gene Tree for CCBE1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CCBE1 (see all 7159)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219082531,2,,4
    CHennekam lymphangiectasia-lymphedema syndrome (HLLS)4 pathogenic156988287(-) GCTACC/TGCTGC 2 R C mis11Minor allele frequency- T:0.00NA 4552
    rs1219082501,2,,4
    CHennekam lymphangiectasia-lymphedema syndrome (HLLS)4 pathogenic157001802(-) AGTGCT/AGCAAA 2 /S /C mis11Minor allele frequency- A:0.00EU 1297
    rs58253361,2
    C--53809299(+) TTTTT-/T/TT  
            
    AAACA
    2 -- ut311NA 2
    rs351175351,2
    C--53817825(+) AAAAAA/-TCAAA 1 -- int11Minor allele frequency- -:0.00NA 2
    rs106024761,2
    C--53822931(+) AGAAA-/ACACACA 1 -- int10--------
    rs561077931,2
    C--53825973(+) AAAAA-/A/AA  
            
    GAAAT
    1 -- int11NA 2
    rs608258511,2
    F--53834478(+) CCATCT/CATCTA 1 -- int13Minor allele frequency- C:0.29NA CSA 7
    rs597302121,2
    F--53834482(+) CCATCC/TATCCA 1 -- int13Minor allele frequency- T:0.38NA CSA 8
    rs113796711,2
    C--53837645(+) GGCAC-/TTTTTT 1 -- int1 trp30--------
    rs1416492221,2
    C--53844779(+) AAGTG-/AAGT  
            
    AAGAG
    1 -- int10--------

    HapMap Linkage Disequilibrium report for CCBE1 (57098171 - 57348171 bp, first 250kb of CCBE1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CCBE1 (see all 18):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2717169CNV Deletion23290073
    esv4345CNV Deletion18987735
    esv2659149CNV Deletion23128226
    esv2344726CNV Deletion18987734
    esv2717167CNV Deletion23290073
    esv2717168CNV Deletion23290073
    esv2578250CNV Deletion19546169
    esv2507425CNV Insertion19546169
    esv267528CNV Insertion20981092
    nsv513499CNV Insertion21212237

    Human Gene Mutation Database (HGMD): CCBE1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCBE1
    DNA2.0 Custom Variant and Variant Library Synthesis for CCBE1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612753   
    OMIM disorders: 235510  
    UniProtKB/Swiss-Prot: CCBE1_HUMAN, Q6UXH8
  • Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510]: A generalized lymph-vessels dysplasia
    characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In
    addition, affected individuals have unusual facies and severe mental retardation. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 11 diseases for CCBE1:    
    About MalaCards
    hennekam syndrome    immune hydrops fetalis    non-immune hydrops fetalis    lymphedema
    hydrops fetalis    ovarian cancer    mental retardation    retinitis
    endotheliitis    multiple myeloma    myeloma

    1 disease from the University of Copenhagen DISEASES database for CCBE1:
    Lymphedema

    CCBE1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CCBE1
    Human Genome Epidemiology (HuGE) Navigator: CCBE1 (3 documents)

    Export disorders for CCBE1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CCBE1 gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with CCBE1)
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    1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2, 3 Clark H.F.... Gray A.M. (Genome Res. 2003)
    2. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PubMed id 11853319)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2001)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. (PubMed id 19911200)1, 2 Connell F....Jeffery S. (Hum. Genet. 2010)
    5. Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. (PubMed id 19935664)1, 2 Alders M.... Hennekam R.C. (Nat. Genet. 2009)
    6. ccbe1 is required for embryonic lymphangiogenesis and venous sprouting. (PubMed id 19287381)1, 2 Hogan B.M....Schulte-Merker S. (Nat. Genet. 2009)
    7. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1, 4 Uhl G.R....Lerman C. (Arch. Gen. Psychiatry 2008)
    8. Multilocus analysis of GAW15 NARAC chromosome 18 case-control data. (PubMed id 18466450)1, 4 Browning S.R. and Thomas J. (BMC Proc 2007)
    9. Genome-wide association analysis accounting for environmental factors through propensity-score matching: application to stressful live events in major depressive disorder. (PubMed id 23857890)1 Power R.A....Uher R. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2013)
    10. CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis. (PubMed id 22239599)1 Connell F.C....Mansour S. (Clin. Genet. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 147372 HGNC: 29426 AceView: FLJ30681 Ensembl:ENSG00000183287 euGenes: HUgn147372
    ECgene: CCBE1 H-InvDB: CCBE1

    (According to HUGE)
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    HUGE: KIAA1983

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CCBE1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CCBE1 gene:
    Search GeneIP for patents involving CCBE1

    GeneCards and IP:
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