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Gene : CBLN3 Homo sapiens

Name  ? cerebellin 3 precursor Cytological Location  14q12
Brief Description  cerebellin 3 precursor
Description  Members of the precerebellin family, such as CBLN3, contain a cerebellin motif (see CBLN1; MIM 600432) and a C-terminal C1q signature domain (see MIM 120550) that mediates trimeric assembly of atypical collagen complexes. However, precerebellins do not contain a collagen motif, suggesting that they are not conventional components of the extracellular matrix (Pang et al., 2000 [PubMed 10964938]).[supplied by OMIM, Aug 2009]
  • synonyms:
  • PRO1486,
  • NM_001039771,
  • OTTHUMG00000171315,
  • uc001wpg.5,
  • AY359070,
  • HGNC:20146,
  • CBLN3
  • identifiers:
  • 643866,
  • ENSG00000139899,
  • CBLN3

Genome feature

Region: gene ? Length: 3124  
Location: 14:24426545-24429668 reverse strand Cyto location: 14q12


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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.

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Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 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

3756 SN Ps

4 Cross References

12 Data Sets

18 Homologues

0 Located Features

97 Rna Seq Results