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Gene : CCBE1 Homo sapiens

Name  ? collagen and calcium binding EGF domains 1 Cytological Location  18q21.32
Brief Description  collagen and calcium binding EGF domains 1
Description  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]
  • synonyms:
  • KIAA1983,
  • AB075863,
  • CCBE1,
  • FLJ30681,
  • HKLLS1,
  • NM_133459,
  • HGNC:29426,
  • uc002lib.4,
  • OTTHUMG00000180087
  • identifiers:
  • 147372,
  • ENSG00000183287,
  • CCBE1

Genome feature

Region: gene ? Length: 267243  
Location: 18:59430939-59698181 reverse strand Cyto location: 18q21.32


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3753 SN Ps

5 Cross References

18 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results