Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CCBE1 Gene

protein-coding   GIFtS: 50
GCID: GC18M057101

collagen and calcium binding EGF domains 1
 Explore 4 diseases affiliated with
CCBE1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CCBE1    

Aliases
for CCBE1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Collagen And Calcium Binding EGF Domains 11 2
KIAA19831 3 5
Full Of Fluid Protein Homolog2 3
FLJ306811
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


Summaries
for CCBE1 gene

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

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

Gene Wiki entry for CCBE1


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.1  NT_025028.14  
Regulatory elements:
   SABiosciences 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 plasmid: CCBE1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CCBE1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for CCBE1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Secreted (Potential)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6UXH8

    • CCBE1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: CCBE1
    OriGene Custom Protein Services for CCBE1 
    GenScript Custom Purified and Recombinant Proteins Services for CCBE1
    Novus Biologicals CCBE1 Protein
    Novus Biologicals CCBE1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CCBE1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005581collagen IEA--


    CCBE1 for ontologies           About GeneDecksing



    CCBE1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for CCBE1 
    GenScript Custom Superior Antibodies Services for CCBE1
    Novus Biologicals CCBE1 Antibodies
    Search for Antibodies for CCBE1 at Abcam  
    Uscn Antibodies for CCBE1
    Search ThermoFisher Antibodies for CCBE1

    Assay Products for CCBE1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CCBE1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for CCBE1

    Protein Domains /
    Families
    for CCBE1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CCBE1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR000742 EG-like_dom
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS
     IPR001881 EGF-like_Ca-bd
     IPR013032 EGF-like_CS

    Graphical View of Domain Structure for InterPro Entry Q6UXH8

    ProtoNet protein and cluster: Q6UXH8

    2 Blocks protein families:
    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


    Function
    for CCBE1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: CCBE1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CCBE1
    8/28 QIAGEN miScript miRNA 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 plasmid: CCBE1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CCBE1 (see all 4)
    OriGene shRNA RFP: CCBE1
    OriGene siRNA: CCBE1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CCBE1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for CCBE1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CCBE1 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CCBE1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: CCBE1 (NM_133459)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCBE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCBE1 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for CCBE1
    Search LifeMap BioReagents cell lines for CCBE1

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

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--


    CCBE1 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Ccbe1tm1Lex for CCBE1
         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Ccbe1):
     homeostasis/metabolism  immune system  mortality/aging 

    CCBE1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CCBE1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001946lymphangiogenesis ISS--
    GO:0002040sprouting angiogenesis ISS--
    GO:0048845venous blood vessel morphogenesis ISS--


    CCBE1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for CCBE1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CCBE1
    Search CenterWatch for drugs/clinical trials and news about CCBE1 

    Transcripts
    for CCBE1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    Products:             		 OriGene 3'-UTR Clone: CCBE1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CCBE1
    8/28 QIAGEN miScript miRNA 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 plasmid: CCBE1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CCBE1 (see all 4)
    OriGene shRNA RFP: CCBE1
    OriGene siRNA: CCBE1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CCBE1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CCBE1 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CCBE1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: CCBE1 (NM_133459)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCBE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCBE1 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CCBE1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CCBE1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCBE1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCBE1

    Additional cDNA sequence: 

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

    5 DOTS entries:

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

    24/54 AceView cDNA sequences (see all 54):

    AA007640 BU633177 BM991438 AB075863 AY358347 BC046645 AW772095 AI754689 
    AW069450 CA487557 AW296799 BX640826 BM926537 CR612948 BF475853 NM_133459 
    BI870451 AA076427 BQ020059 BF197421 BE877703 AA342189 AA740403 BM545869 

    GeneLoc Exon Structure


    Expression
    for CCBE1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CCBE1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCCTTTTAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CCBE1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LymphLymphatic VesselsLymphatic Endothelial CellsEndothelium
    AdiposeVisceral White AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Cartilage-like cells (Differentiation of s...)Cartilage

    See CCBE1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCBE1

    SOURCE GeneReport for Unigene cluster: Hs.34333

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

        SABiosciences Custom PCR Arrays for CCBE1
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CCBE1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CCBE1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCBE1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCBE1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCBE1

    Orthologs
    for CCBE1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for CCBE1 gene from 4/11 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 74.64(n)
    79.9(a)    		   770043  XM_001233357.1  XP_001233358.1 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    		 --
    		 80(a)
    78(a)
    		 many → 1
    many → 1
    		 GL343335.1(876058-895856)
    AAWZ02038554(3496-8696)
    zebrafish
    (Danio rerio)    		 Actinopterygii ccbe11 collagen and calcium binding EGF domains 1 66.67(n)
    68.24(a)    		   555629  NM_001163923.1  NP_001157395.1 


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

    Paralogs
    for CCBE1 gene

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

    Genomic Variants
    for CCBE1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/6119 NCBI SNPs in CCBE1 are shown (see all 6119)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 18 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219082531,2
    		Cpathogenic53843167(-) GCTACC/TGCTGC 2 R C mis11Minor allele frequency- T:0.00NA 4552
    rs1219082501,2
    		Cpathogenic53856462(-) AGTGCT/AGCAAA 2 /S /C mis11Minor allele frequency- A:0.00EU 1297
    rs1998869601,2
    		C--53807014(+) GGTTTC/GAAAAT 1 -- ds50010--------
    rs777283521,2
    		F,--53807453(+) CACACA/GTGAAA 1 -- ut311Minor allele frequency- G:0.03NA 120
    rs664828211,2
    		C,--53807815(+) TTTCT-/GGGGCA 1 -- ut310--------
    rs2014027431,2
    		C--53807815(+) TTTCTG/TGGGCA 1 -- ut310--------
    rs1120597251,2
    		--53808708(+) TAACAT/GGTTGA 1 -- ut312Minor allele frequency- G:0.33CSA 3
    rs177698051,2
    		C,F,H,--53808766(+) AAGCAC/GTGTTA 1 -- ut3121Minor allele frequency- G:0.04NA NS EA 2170
    rs80842161,2
    		C,F,H,--53809059(+) TCTGGA/CATAGT 1 -- ut319Minor allele frequency- C:0.01NS EA NA 1094
    rs750310071,2
    		F,--53809205(+) TCAAAG/CAAAAG 1 -- ut311Minor allele frequency- C:0.08WA 118

    HapMap Linkage Disequilibrium report for CCBE1 (57098171 - 57348171 bp, first 250kb of CCBE1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for CCBE1
         1 CNV: 102685
         6 Indels: 45670 42379 40236 102684 40237 61628
    Human Gene Mutation Database (HGMD): CCBE1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CCBE1
    DNA2.0 Custom Variant and Variant Library Synthesis for CCBE1

    Disorders / Diseases
    for CCBE1 gene

    (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.)
    About This Section
    CCBE1 for disorders           About GeneDecksing

    OMIM gene information: 612753   
    OMIM disorders: 235510  
    UniProtKB/Swiss-Prot: CCBE1_HUMAN, Q6UXH8
  • Defects in CCBE1 are the cause of Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510]. HLLS is 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

    4 diseases for CCBE1:    About MalaCards
    lymphedema    ovarian cancer    hydrops fetalis    carcinoma

    1 disease from the University of Copenhagen DISEASES database for CCBE1:
    Lymphedema
    Human Genome Epidemiology (HuGE) Navigator: CCBE1 (3 documents)

    Export disorders for CCBE1 gene to outside databases

    Publications
    for CCBE1 gene

    (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)
    About This Section

    PubMed articles for CCBE1 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with CCBE1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    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. (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. (2001)
    3. Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. (PubMed id 19911200)1, 2 Connell F....Jeffery S. (2010)
    4. Mutations in CCBE1 cause generalized lymph vessel dys plasia in humans. (PubMed id 19935664)1, 2 Alders M....Hennekam R.C. (2009)
    5. ccbe1 is required for embryonic lymphangiogenesis and venous sprouting. (PubMed id 19287381)1, 2 Hogan B.M....Schulte-Merker S. (2009)
    6. CCBE1 mutations can cause a mild, atypical form of gen eralized lymphatic dysplasia but are not a common cause of non-immune hydrops fe talis. (PubMed id 22239599)1 Connell F.C....Mansour S. (2012)
    7. CCBE1 is essential for mammalian lymphatic vascular d evelopment and enhances the lymphangiogenic effect of vascular endothelial grow th factor-C in vivo. (PubMed id 21778431)1 Bos F.L....Schulte-Merker S. (2011)
    8. Collagen and calcium-binding EGF domains 1 is frequen tly inactivated in ovarian cancer by aberrant promoter hypermethylation and mod ulates cell migration and survival. (PubMed id 19935792)1 Barton C.A....O'Brien P.M. (2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    10. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1 Uhl G.R....Lerman C. (2008)

    External Searches for CCBE1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CCBE1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 147372 HGNC: 29426 AceView: FLJ30681 Ensembl:ENSG00000183287 euGenes: HUgn147372
    ECgene: CCBE1 H-InvDB: CCBE1

    Other Databases showing CCBE1 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1983

    Specialized Databases showing CCBE1 gene

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

    Intellectual Property
    for CCBE1 gene

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for CCBE1 gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for CCBE1  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CCBE1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CCBE1  
     OriGene Protein Over-expression Lysate for CCBE1   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for CCBE1   OriGene 3'-UTR Clone for CCBE1  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CCBE1   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CCBE1  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CCBE1   OriGene Custom Protein Services for CCBE1  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CCBE1
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CCBE1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCBE1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CCBE1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCBE1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCBE1
     GenScript Custom Purified and Recombinant Proteins Services for CCBE1 GenScript cDNA clones with any tag delivered in your preferred vector for CCBE1
     GenScript Custom Assay Services for CCBE1 GenScript Custom Superior Antibodies Services for CCBE1
     GenScript Custom overexpressing Cell Line Services for CCBE1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in CCBE1 promoter
     Search Chromatin IP Primers for CCBE1
     RT2 qPCR Primer Assay in human, mouse, rat CCBE1
     Search GNC Networks for CCBE1
     SABiosciences Custom PCR Arrays for CCBE1
     Search Tocris compounds for CCBE1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     CCBE1 antibodies
     CCBE1 proteins
     CCBE1 lysates
     Search for Antibodies for CCBE1 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for CCBE1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     CCBE1 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for CCBE1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCBE1
     SwitchGear 3'UTR luciferase reporter plasmids for CCBE1
     SwitchGear Promoter luciferase reporter plasmids for CCBE1
     Search ThermoFisher Antibodies for CCBE1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCBE1
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      CCBE1 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4