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Gene : BBS5 Homo sapiens

Name  ? Bardet-Biedl syndrome 5 Cytological Location  2q31.1
Brief Description  Bardet-Biedl syndrome 5
Description  This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008]
  • synonyms:
  • OTTHUMG00000132207,
  • DKFZp762I194,
  • AY604003,
  • NM_152384,
  • HGNC:970,
  • uc002uet.4,
  • BBS5
  • identifiers:
  • 129880,
  • ENSG00000163093,
  • BBS5

Genome feature

Region: gene ? Length: 27162  
Location: 2:169479494-169506655 Cyto location: 2q31.1


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Function

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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

346 SN Ps

5 Cross References

17 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results