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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 huma... See more...
Aliases for CCBE1 Gene
Aliases for CCBE1 Gene
External Ids for CCBE1 Gene
- HGNC: 29426
- Entrez Gene: 147372
- Ensembl: ENSG00000183287
- OMIM: 612753
- UniProtKB: Q6UXH8
Previous GeneCards Identifiers for CCBE1 Gene
- GC18M055253
- GC18M057101
- GC18M053807
Summaries 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. Gene Ontology (GO) annotations related to this gene include calcium ion binding and collagen binding.
UniProtKB/Swiss-Prot Summary for CCBE1 Gene
-
Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis.
Additional gene information for CCBE1 Gene
- Monarch Initiative
- Search for CCBE1 at DataMed
- Search for CCBE1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCBE1 Gene
Genomics for CCBE1 Gene
GeneHancer (GH) Regulatory Elements for CCBE1 Gene
Promoters and enhancers for CCBE1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CCBE1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CCBE1 gene promoter:
-
- Chx10
- FOXO1
- FOXO1a
- FOXO3
- FOXO3a
- FOXO3b
- NF-kappaB
- NF-kappaB1
- RelA
- RORalpha1
Genomic Locations for CCBE1 Gene
Genomic Locations for CCBE1 Gene
- chr18:59,430,939-59,697,662
- (GRCh38/hg38)
- Size:
- 266,724 bases
- Orientation:
- Minus strand
- chr18:57,098,171-57,364,644
- (GRCh37/hg19)
- Size:
- 266,474 bases
- Orientation:
- Minus strand
Genomic View for CCBE1 Gene
Genes around CCBE1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 18q21.32 by HGNC
- 18q21.32 by Entrez Gene
- 18q21.32 by Ensembl
CCBE1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CCBE1 Gene
Proteins for CCBE1 Gene
-
Protein details for CCBE1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6UXH8-CCBE1_HUMAN
- Recommended name:
- Collagen and calcium-binding EGF domain-containing protein 1
- Protein Accession:
- Q6UXH8
- Q6MZX5
- Q86SS2
- Q8TF19
Protein attributes for CCBE1 Gene
- Size:
- 406 amino acids
- Molecular mass:
- 44103 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAB85569.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for CCBE1 Gene
Post-translational modifications for CCBE1 Gene
Other Protein References for CCBE1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ CCBE1 Antibody
- Atlas Antibodies Anti-CCBE1 Antibody
- Creative Diagnostics Anti-CCBE1 monoclonal antibody and Anti-CCBE1 (aa 162-191) polyclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for CCBE1
- Novus Biologicals Antibodies for CCBE1
-
Abcam antibodies for CCBE1
- Invitrogen Antibodies for CCBE1 (AFLGC-CCBE1)
Protein Products
- Atlas Antibodies PrEST Antigen CCBE1
- Creative Biomart Recombinant Human CCBE1 cell lysate
-
OriGene Purified Proteins for CCBE1
- Search Origene for MassSpec and Protein Over-expression Lysates for CCBE1
- Origene Custom Protein Services for CCBE1
- antibodies-online: Show 4 available CCBE1 Proteins ranked by validation data
- Compare Top CCBE1 Proteins
-
Quality Products:
-
Abcam proteins for CCBE1
Assay Products
- antibodies-online: Show 5 available CCBE1 Elisa Kits ranked by validation data
- Compare Top CCBE1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for CCBE1 Gene
Domains & Families for CCBE1 Gene
Gene Families for CCBE1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for CCBE1 Gene
Suggested Antigen Peptide Sequences for CCBE1 Gene
- GenScript: Design optimal peptide antigens:
-
- Full of fluid protein homolog (CCBE1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q6UXH8- Family:
-
- Belongs to the CCBE1 family.
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.
Phenotypes From GWAS Catalog for CCBE1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002020 | protease binding | IPI | 24552833 |
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 25416956 |
| GO:0005518 | collagen binding | IDA | 21778431 |
Phenotypes for CCBE1 Gene
- MGI mutant phenotypes for CCBE1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for CCBE1:
Animal Model Products
-
Taconic Biosciences Mouse Models for CCBE1
CRISPR Products
-
OriGene CRISPR knockouts for CCBE1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CCBE1
- genomics-online: gRNA clones - Search for available CCBE1 gRNA products
- Overview of 79 available CCBE1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for CCBE1 - Select products 50% OFF >
- * CCBE1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * CCBE1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for CCBE1
miRNA for CCBE1 Gene
- miRTarBase miRNAs that target CCBE1
-
- hsa-mir-4443 (MIRT442944)
- hsa-mir-7847-3p (MIRT442945)
- hsa-mir-6880-5p (MIRT442946)
- hsa-mir-650 (MIRT442947)
- hsa-mir-3612 (MIRT442948)
- hsa-mir-3613-3p (MIRT442949)
- hsa-mir-6807-5p (MIRT514976)
- hsa-mir-3940-3p (MIRT514977)
- hsa-mir-4279 (MIRT631154)
- hsa-mir-6778-3p (MIRT631155)
- hsa-mir-1976 (MIRT631156)
- hsa-mir-3653-5p (MIRT631157)
- hsa-mir-6747-3p (MIRT631158)
- hsa-mir-6727-3p (MIRT631159)
- hsa-mir-4722-3p (MIRT631160)
- hsa-mir-4740-3p (MIRT631161)
- hsa-mir-1207-3p (MIRT631162)
- hsa-mir-646 (MIRT631163)
- hsa-mir-122-3p (MIRT631164)
- hsa-mir-552-5p (MIRT659769)
- hsa-mir-2355-3p (MIRT659770)
- hsa-mir-4646-3p (MIRT659771)
- hsa-mir-676-3p (MIRT659772)
- hsa-mir-6852-3p (MIRT659773)
- hsa-mir-4286 (MIRT659774)
- hsa-mir-3909 (MIRT659775)
- hsa-mir-6749-3p (MIRT669199)
- hsa-mir-4726-3p (MIRT674149)
- hsa-mir-6764-5p (MIRT674150)
- hsa-mir-1915-3p (MIRT674151)
- hsa-mir-6840-3p (MIRT674152)
- hsa-mir-1208 (MIRT712941)
- hsa-mir-6760-3p (MIRT712942)
- hsa-mir-548j-3p (MIRT712943)
- hsa-mir-548x-3p (MIRT712944)
- hsa-mir-548aq-3p (MIRT712945)
- hsa-mir-548am-3p (MIRT712946)
- hsa-mir-548aj-3p (MIRT712947)
- hsa-mir-548ah-3p (MIRT712948)
- hsa-mir-548ae-3p (MIRT712949)
- hsa-mir-548z (MIRT712950)
- hsa-mir-548h-3p (MIRT712951)
- hsa-mir-548d-3p (MIRT712952)
- hsa-mir-548bb-3p (MIRT712953)
- hsa-mir-548ac (MIRT712954)
- hsa-mir-6875-3p (MIRT716373)
- hsa-mir-6883-3p (MIRT716374)
- hsa-mir-4778-3p (MIRT716375)
- hsa-mir-5009-3p (MIRT716376)
- hsa-mir-3121-3p (MIRT716377)
- hsa-mir-6881-3p (MIRT721084)
- hsa-mir-6873-3p (MIRT721085)
- hsa-mir-6780a-3p (MIRT721086)
- hsa-mir-7111-3p (MIRT721087)
- hsa-mir-4326 (MIRT721088)
- hsa-mir-6817-3p (MIRT721089)
- hsa-mir-7110-3p (MIRT721090)
- hsa-mir-6769b-3p (MIRT721091)
- hsa-mir-4723-3p (MIRT721092)
- hsa-mir-3183 (MIRT721093)
- hsa-mir-4277 (MIRT721094)
- hsa-mir-584-3p (MIRT721095)
- hsa-mir-330-3p (MIRT731279)
- hsa-mir-4524a-3p (MIRT790513)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CCBE1
- Browse OriGene Inhibitory RNA Products For CCBE1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCBE1
- genomics-online: shRNA clones - Search for available CCBE1 shRNA products
- Overview of 79 available CCBE1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CCBE1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CCBE1
- genomics-online: cdna clones - Search for available CCBE1 CDNA products
- Overview of 79 available CCBE1 gene related products
- orf clones - Search for available CCBE1 ORF products
- Overview of 79 available CCBE1 gene related products
- Applied Biological Materials (abm): Clones for CCBE1 - Select products 50% OFF >
- * CCBE1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * CCBE1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for 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
- Secreted.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| plasma membrane | 3 |
| nucleus | 2 |
| cytosol | 2 |
| mitochondrion | 0 |
- Cytosol (4)
- Plasma membrane (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005581 | collagen trimer | IEA | -- |
| GO:0005615 | extracellular space | IDA | 24552833 |
| GO:0031012 | extracellular matrix | IDA | 21778431 |
Pathways & Interactions for CCBE1 Gene
Interacting Proteins for CCBE1 Gene
Selected Interacting proteins:
Q6UXH8-CCBE1_HUMAN
ENSP00000404464
for CCBE1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for CCBE1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001945 | lymph vessel development | IEA | -- |
| GO:0001946 | lymphangiogenesis | ISS,IEA | -- |
| GO:0002040 | sprouting angiogenesis | ISS | -- |
| GO:0003016 | respiratory system process | IEA | -- |
| GO:0007275 | multicellular organism development | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for CCBE1 Gene
Drugs & Compounds for CCBE1 Gene
No Compound Related Data Available
Drug Products
- Atlas Antibodies PrEST Antigen CCBE1
- Creative Biomart Recombinant Human CCBE1 cell lysate
Transcripts for CCBE1 Gene
mRNA/cDNA for CCBE1 Gene
- (1) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (54) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000439986 6271 bps (ENST00000439986.9)
- ENST00000649564 6403 bps (ENST00000649564.1)
- ENST00000589116 1692 bps (ENST00000589116.2)
- ENST00000650467 861 bps (ENST00000650467.1)
- ENST00000589419 587 bps (ENST00000589419.1)
CRISPR Products
-
OriGene CRISPR knockouts for CCBE1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CCBE1
- genomics-online: gRNA clones - Search for available CCBE1 gRNA products
- Overview of 79 available CCBE1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for CCBE1 - Select products 50% OFF >
- * CCBE1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * CCBE1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for CCBE1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CCBE1
- Browse OriGene Inhibitory RNA Products For CCBE1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCBE1
- genomics-online: shRNA clones - Search for available CCBE1 shRNA products
- Overview of 79 available CCBE1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CCBE1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CCBE1
- genomics-online: cdna clones - Search for available CCBE1 CDNA products
- Overview of 79 available CCBE1 gene related products
- orf clones - Search for available CCBE1 ORF products
- Overview of 79 available CCBE1 gene related products
- Applied Biological Materials (abm): Clones for CCBE1 - Select products 50% OFF >
- * CCBE1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * CCBE1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Expression for CCBE1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Adipose (Muscoskeletal System)
- Visceral White Adipocytes Visceral White Adipose
- Visceral White Adipose
-
Eye (Sensory Organs)
- Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
-
Epithelial Cells
- Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
-
Lymph (Hematopoietic System)
- Lymphatic Endothelial Cells Lymphatic Vessels
-
Endothelium (Cardiovascular System)
- Lymphatic Endothelial Cells Lymphatic Vessels
- Neural Ectoderm (Nervous System)
- NULL (Uncategorized)
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).
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
NURSA nuclear receptor signaling pathways regulating expression of CCBE1 Gene:
CCBE1SOURCE GeneReport for Unigene cluster for CCBE1 Gene:
Hs.34333mRNA Expression by UniProt/SwissProt for CCBE1 Gene:
Q6UXH8-CCBE1_HUMAN
Tissue specificity:
Not expressed in blood or lymphatic endothelial cells.
Evidence on tissue expression from TISSUES for CCBE1 Gene
- Lung(4.2)
- Liver(4.1)
- Nervous system(4.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CCBE1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- chin
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- middle ear
- mouth
- neck
- nose
- outer ear
- skull
- thyroid
- tooth
Thorax:
- chest wall
- clavicle
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- abdominal wall
- intestine
- kidney
- large intestine
- small intestine
- spleen
Pelvis:
- anus
- pelvis
- rectum
- testicle
- ureter
- urinary bladder
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- hair
- lymph node
- lymph vessel
- skin
- spinal column
- spinal cord
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for CCBE1
Gene Expression Assay Products
Orthologs for CCBE1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CCBE1 33 32 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
OneToMany | |
| -- 33 |
|
OneToMany | |||
| dog (Canis familiaris) |
Mammalia | CCBE1 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Ccbe1 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ccbe1 32 |
|
||
| cow (Bos Taurus) |
Mammalia | CCBE1 33 32 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | CCBE1 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CCBE1 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | -- 33 |
|
OneToMany | |
| -- 33 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ccbe1 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ccbe1 33 32 |
|
OneToOne |
- Species where no ortholog for CCBE1 was found in the sources mined by GeneCards:
-
- 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
- ENSEMBL:
- Gene Tree for CCBE1 (if available)
- TreeFam:
- Gene Tree for CCBE1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CCBE1: view image
Paralogs for CCBE1 Gene
No data available for Paralogs for CCBE1 Gene
Variants for CCBE1 Gene
| SNP ID | Clin | Chr 18 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1048006 | benign, Hennekam lymphangiectasia-lymphedema syndrome | 59,431,159(-) | G/A | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1048008 | uncertain-significance, benign, Hennekam lymphangiectasia-lymphedema syndrome | 59,431,112(-) | C/G/T | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs112059725 | uncertain-significance, Hennekam lymphangiectasia-lymphedema syndrome | 59,432,375(-) | G/T | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1129748 | benign, Hennekam lymphangiectasia-lymphedema syndrome | 59,430,963(-) | G/T | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs113599524 | likely-benign, Hennekam lymphangiectasia-lymphedema syndrome | 59,433,888(-) | G/A/C | 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant |
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)
Additional Variant Information for CCBE1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCBE1 Gene
Disorders for CCBE1 Gene
(5) MalaCards diseases for CCBE1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hennekam lymphangiectasia-lymphedema syndrome 1 |
|
|
| hennekam syndrome |
|
|
| lymphedema |
|
|
| cholestasis-lymphedema syndrome |
|
|
| van maldergem syndrome |
|
|
Search CCBE1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CCBE1_HUMAN- Hennekam lymphangiectasia-lymphedema syndrome 1 (HKLLS1) [MIM:235510]: A form of Hennekam lymphangiectasia-lymphedema syndrome, 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 some manifest mental retardation. HKLLS1 inheritance is autosomal recessive. {ECO:0000269 PubMed:19911200, ECO:0000269 PubMed:19935664}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for CCBE1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for CCBE1 Gene
Publications for CCBE1 Gene
- The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4 56
- 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 research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 56
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
- Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. (PMID: 19911200) Connell F … Lymphoedema Consortium (Human genetics 2010) 3 4 56
- Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. (PMID: 19935664) Alders M … Hennekam RC (Nature genetics 2009) 3 4 56
ExternalLinks
Products for CCBE1 Gene
- Custom Antibody ServicesOriGene Antibodies for CCBE1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for CCBE1
- Search Origene for MassSpec and Protein Over-expression Lysates for CCBE1
- Origene Custom Protein Services for CCBE1
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CCBE1
- Browse OriGene Inhibitory RNA Products For CCBE1
- OriGene qPCR primer pairs for CCBE1
- OriGene CRISPR knockouts for CCBE1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CCBE1
- Sino Biological Human cDNA Clone for CCBE1
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- High-throughput Antibody Production Service
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- Novus Biologicals Antibodies for CCBE1
- Novus Biologicals proteins and lysates for CCBE1
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- Abcam antibodies for CCBE1
- Abcam proteins for CCBE1
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- Taconic Biosciences Mouse Models for CCBE1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for CCBE1 (AFLGC-CCBE1)
- antibodies-online: Show 20 available CCBE1 Antibodies ranked by validation data
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- antibodies-online: Show 5 available CCBE1 Elisa Kits ranked by validation data
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- antibodies-online: Show 4 available CCBE1 Proteins ranked by validation data
- Compare Top CCBE1 Proteins
- Quality Products:
- Horizon Cell Lines for CCBE1
- genomics-online: cdna clones - Search for available CCBE1 CDNA products
- Overview of 79 available CCBE1 gene related products
- orf clones - Search for available CCBE1 ORF products
- Overview of 79 available CCBE1 gene related products
- genomics-online: gRNA clones - Search for available CCBE1 gRNA products
- Overview of 79 available CCBE1 gene related products
- genomics-online: primer clones - Search for available CCBE1 Primer products
- Overview of 79 available CCBE1 gene related products
- genomics-online: shRNA clones - Search for available CCBE1 shRNA products
- Overview of 79 available CCBE1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CCBE1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CCBE1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for CCBE1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCBE1
Sources for CCBE1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
- (171) LncRNAdb
- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource