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Gene : BBS12 Homo sapiens

Name  ? Bardet-Biedl syndrome 12 Cytological Location  4q27
Brief Description  Bardet-Biedl syndrome 12
Description  The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
  • synonyms:
  • C4orf24,
  • C4orf24,
  • NM_152618,
  • OTTHUMG00000133070,
  • BBS12,
  • chromosome 4 open reading frame 24,
  • FLJ41559,
  • FLJ35630,
  • AK123553,
  • uc003ieu.3,
  • HGNC:26648
  • identifiers:
  • 166379,
  • ENSG00000181004,
  • BBS12

Genome feature

Region: gene ? Length: 44507  
Location: 4:122700437-122744943 Cyto location: 4q27


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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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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

3756 SN Ps

5 Cross References

17 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results