C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: Bardet-Biedl syndrome 5
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSDARG00000039827 bbs5 7955 - 9:49272141-49284004 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSDART00000058255 bbs5-001 49272141-49284004 protein_coding
  ENSDART00000133331 bbs5-002 49274941-49283941 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; BrainHeartKidneyLiverMuscleENSDART00000058255ENSDART00000133331
Transcript ID Brain Heart Kidney Liver Muscle
ENSDART00000058255 5.096±2.28 1.280±0.91 0.307±0.31 0.044±0.00 0.487±0.00
ENSDART00000133331 6.780±2.00 N/A N/A 0.070±0.00 N/A

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology

GO IDEvidence TypeGO Description
GO:0001947 IMP heart looping
GO:0005622 IMP intracellular
GO:0005737 IEA cytoplasm
GO:0005815 IEA microtubule organizing center
GO:0005856 IEA cytoskeleton
GO:0005886 IEA plasma membrane
GO:0005929 IEA cilium
GO:0016020 IEA membrane
GO:0032402 IMP melanosome transport
GO:0042995 IEA cell projection
GO:0046907 IMP intracellular transport
GO:0051877 IMP pigment granule aggregation in cell center
GO:0060170 IEA ciliary membrane
GO:0070121 IMP Kupffer's vesicle development

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSG00000163093 BBS5 Bardet-Biedl syndrome 5 protein_coding Homo_sapiens
ENSG00000251569 RP11-724O16.1 Uncharacterized protein {ECO:0000313|Ensembl:ENSP00000424363} protein_coding Homo_sapiens
ENSMUSG00000063145 Bbs5 Bardet-Biedl syndrome 5 (human) protein_coding Mus_musculus

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