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Aliases for CCBE1 Gene

Aliases for CCBE1 Gene

  • Collagen And Calcium Binding EGF Domains 1 2 3 5
  • Full Of Fluid Protein Homolog 3 4
  • KIAA1983 4
  • HKLLS1 3

External Ids for CCBE1 Gene

Previous GeneCards Identifiers for CCBE1 Gene

  • GC18M055253
  • GC18M057101
  • GC18M053807

Summaries for CCBE1 Gene

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 Lymphangiectasia-Lymphedema Syndrome 1 and Hennekam Syndrome. GO annotations related to this gene include calcium ion binding and collagen binding.

UniProtKB/Swiss-Prot for CCBE1 Gene

  • Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis.

Gene Wiki entry for CCBE1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCBE1 Gene

Genomics for CCBE1 Gene

Regulatory Elements for CCBE1 Gene

Enhancers for CCBE1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CCBE1 on UCSC Golden Path with GeneCards custom track

Promoters for CCBE1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CCBE1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CCBE1 Gene

59,430,939 bp from pter
59,697,643 bp from pter
266,705 bases
Minus strand

Genomic View for CCBE1 Gene

Genes around CCBE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCBE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCBE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCBE1 Gene

Proteins for CCBE1 Gene

  • Protein details for CCBE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Collagen and calcium-binding EGF domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • Q6MZX5
    • Q86SS2
    • Q8TF19

    Protein attributes for CCBE1 Gene

    406 amino acids
    Molecular mass:
    44103 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB85569.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CCBE1 Gene


neXtProt entry for CCBE1 Gene

Proteomics data for CCBE1 Gene at MOPED

Post-translational modifications for CCBE1 Gene

  • Glycosylation at Asn 142 and Asn 182
  • Modification sites at PhosphoSitePlus

Other Protein References for CCBE1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCBE1 Gene

Domains & Families for CCBE1 Gene

Suggested Antigen Peptide Sequences for CCBE1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 2 collagen-like domains.
  • Belongs to the CCBE1 family.
  • Contains 2 collagen-like domains.
  • Contains 1 EGF-like domain.
  • Belongs to the CCBE1 family.
genes like me logo Genes that share domains with CCBE1: view

No data available for Gene Families for CCBE1 Gene

Function for CCBE1 Gene

Molecular function for CCBE1 Gene

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

Gene Ontology (GO) - Molecular Function for CCBE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005518 collagen binding IDA 21778431
genes like me logo Genes that share ontologies with CCBE1: view
genes like me logo Genes that share phenotypes with CCBE1: view

Human Phenotype Ontology for CCBE1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CCBE1 Gene

MGI Knock Outs for CCBE1:

Animal Model Products

  • Taconic Biosciences Mouse Models for CCBE1

miRNA for CCBE1 Gene

miRTarBase miRNAs that target CCBE1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CCBE1 Gene

Localization for CCBE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCBE1 Gene


Subcellular locations from

Jensen Localization Image for CCBE1 Gene COMPARTMENTS Subcellular localization image for CCBE1 gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytosol 3
nucleus 2
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for CCBE1 Gene

Pathways & Interactions for CCBE1 Gene

SuperPathways for CCBE1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCBE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002040 sprouting angiogenesis ISS --
GO:0010575 positive regulation of vascular endothelial growth factor production IDA 24552833
GO:0048845 venous blood vessel morphogenesis ISS --
genes like me logo Genes that share ontologies with CCBE1: view

No data available for Pathways by source and SIGNOR curated interactions for CCBE1 Gene

Drugs & Compounds for CCBE1 Gene

No Compound Related Data Available

Transcripts for CCBE1 Gene

Unigene Clusters for CCBE1 Gene

Collagen and calcium binding EGF domains 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CCBE1 Gene

No ASD Table

Relevant External Links for CCBE1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CCBE1 Gene

mRNA expression in normal human tissues for CCBE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CCBE1 Gene

This gene is overexpressed in Colon - Sigmoid (x5.5) and Ovary (x4.8).

Protein differential expression in normal tissues from HIPED for CCBE1 Gene

This gene is overexpressed in Heart (64.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCBE1 Gene

SOURCE GeneReport for Unigene cluster for CCBE1 Gene Hs.34333

mRNA Expression by UniProt/SwissProt for CCBE1 Gene

Tissue specificity: Not expressed in blood or lymphatic endothelial cells.
genes like me logo Genes that share expression patterns with CCBE1: view

Protein tissue co-expression partners for CCBE1 Gene

Primer Products

Orthologs for CCBE1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCBE1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CCBE1 35
  • 86.29 (n)
  • 86.45 (a)
CCBE1 36
  • 86 (a)
(Canis familiaris)
Mammalia CCBE1 35
  • 88.06 (n)
  • 91.74 (a)
CCBE1 36
  • 84 (a)
(Mus musculus)
Mammalia Ccbe1 35
  • 86.62 (n)
  • 90.15 (a)
Ccbe1 16
Ccbe1 36
  • 89 (a)
(Pan troglodytes)
Mammalia CCBE1 35
  • 99.59 (n)
  • 99.51 (a)
CCBE1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Ccbe1 35
  • 86.45 (n)
  • 88.92 (a)
(Monodelphis domestica)
Mammalia CCBE1 36
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 84 (a)
-- 36
  • 89 (a)
(Gallus gallus)
Aves CCBE1 35
  • 74.56 (n)
  • 80.32 (a)
CCBE1 36
  • 79 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 78 (a)
-- 36
  • 77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ccbe1 35
  • 72.57 (n)
  • 75.48 (a)
(Danio rerio)
Actinopterygii ccbe1 35
  • 66.39 (n)
  • 68.85 (a)
ccbe1 36
  • 68 (a)
Species with no ortholog for CCBE1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCBE1 Gene

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

Paralogs for CCBE1 Gene

No data available for Paralogs for CCBE1 Gene

Variants for CCBE1 Gene

Sequence variations from dbSNP and Humsavar for CCBE1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs11659589 - 59,454,927(+) CTTTC(A/C)CCATG reference, missense
rs121908250 Hennekam lymphangiectasia-lymphedema syndrome 1 (HKLLS1) 59,480,228(-) AGTGC(A/T)GCAAA reference, missense
rs121908251 Hennekam lymphangiectasia-lymphedema syndrome 1 (HKLLS1) 59,469,568(-) GCAGT(C/G)CACGG reference, missense
rs121908253 Hennekam lymphangiectasia-lymphedema syndrome 1 (HKLLS1) 59,466,820(-) GCTAC(C/G/T)GCTGC reference, missense
rs121908254 Hennekam lymphangiectasia-lymphedema syndrome 1 (HKLLS1) 59,466,772(-) AGACA(C/T)GTACC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CCBE1 Gene

Variant ID Type Subtype PubMed ID
esv2717167 CNV Deletion 23290073
esv2717168 CNV Deletion 23290073
nsv909671 CNV Gain 21882294
nsv828251 CNV Loss 20364138
esv274875 CNV Gain+Loss 21479260
nsv513499 CNV Insertion 21212237
esv2507425 CNV Insertion 19546169
esv275221 CNV Loss 21479260
esv267528 CNV Insertion 20981092
esv1302581 CNV Insertion 17803354
nsv522624 CNV Loss 19592680
esv2578250 CNV Deletion 19546169
esv2344726 CNV Deletion 18987734
esv4345 CNV Deletion 18987735
esv2659149 CNV Deletion 23128226
esv2717169 CNV Deletion 23290073
esv8710 CNV Loss 19470904
nsv470420 CNV Gain 18288195

Variation tolerance for CCBE1 Gene

Residual Variation Intolerance Score: 50.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.75; 46.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCBE1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCBE1 Gene

Disorders for CCBE1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for CCBE1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hennekam lymphangiectasia-lymphedema syndrome 1
  • hennekam syndrome
hennekam syndrome
  • hennekam lymphangiectasia-lymphedema syndrome
  • lymphatic edema
intestinal lymphangiectasia
  • lymphangiectasis, intestinal
cholestasis-lymphedema syndrome
  • aagenaes syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CCBE1 in MalaCards View complete list of genes associated with diseases


  • Hennekam lymphangiectasia-lymphedema syndrome 1 (HKLLS1) [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. {ECO:0000269 PubMed:19911200, ECO:0000269 PubMed:19935664}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CCBE1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CCBE1: view

No data available for Genatlas for CCBE1 Gene

Publications for CCBE1 Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 2 3 4 67
  2. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PMID: 11853319) Nagase T. … Ohara O. (DNA Res. 2001) 2 3
  3. Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment. (PMID: 24939585) Fransen E. … Friedman R.A. (Eur. J. Hum. Genet. 2015) 3
  4. Functional Dissection of the CCBE1 Protein: A Crucial Requirement for the Collagen Repeat Domain. (PMID: 25814692) Roukens M.G. … Schulte D. (Circ. Res. 2015) 3
  5. CCBE1 enhances lymphangiogenesis via A disintegrin and metalloprotease with thrombospondin motifs-3-mediated vascular endothelial growth factor-C activation. (PMID: 24552833) Jeltsch M. … Alitalo K. (Circulation 2014) 3

Products for CCBE1 Gene

Sources for CCBE1 Gene