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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: Bardet-Biedl syndrome 2
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENST00000245157 BBS2-001 ENSG00000125124 9606 - 16:56484385-56520283 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeBrainBreastColonHeartKidneyLungMuscleOvaryPlacentaTestisENST00000245157
Transcript ID Adipose Brain Breast Colon Heart Kidney Lung Muscle Ovary Placenta Testis
ENST00000245157 4.223±0.00 14.273±0.00 5.724±0.00 6.363±0.00 5.090±0.00 13.481±0.00 5.407±0.00 7.574±0.00 13.927±1.53 4.170±0.78 11.993±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00048W CIL_00048W_0001 CGP 16:56429133-56479100
CIL_00048V CIL_00048V_0001 CGP 16:56451490-56520283
CIL_00048Y CIL_00048Y_0001 CGP 16:56466836-56568957

Gene Ontology

GO IDEvidence TypeGO Description
GO:0001103 IPI RNA polymerase II repressing transcription factor binding
GO:0005515 IPI:IEA protein binding
GO:0005737 IEA cytoplasm
GO:0005886 IEA plasma membrane
GO:0007288 ISS sperm axoneme assembly
GO:0007601 IEA visual perception
GO:0008104 ISS protein localization
GO:0010629 IEA negative regulation of gene expression
GO:0014824 IEA artery smooth muscle contraction
GO:0016020 IEA membrane
GO:0021756 ISS striatum development
GO:0021766 ISS hippocampus development
GO:0021987 ISS cerebral cortex development
GO:0030534 ISS adult behavior
GO:0031514 IDA motile cilium
GO:0032402 ISS melanosome transport
GO:0033210 IEA leptin-mediated signaling pathway
GO:0033365 ISS protein localization to organelle
GO:0034464 IDA:IEA BBSome
GO:0035058 IEA nonmotile primary cilium assembly
GO:0036064 IDA ciliary basal body
GO:0038108 ISS negative regulation of appetite by leptin-mediated signaling pathway
GO:0040015 ISS negative regulation of multicellular organism growth
GO:0040018 IEA positive regulation of multicellular organism growth
GO:0042311 IEA vasodilation
GO:0042384 IEA cilium assembly
GO:0043001 IMP Golgi to plasma membrane protein transport
GO:0044321 IEA response to leptin
GO:0045444 ISS fat cell differentiation
GO:0045494 ISS photoreceptor cell maintenance
GO:0048854 ISS brain morphogenesis
GO:0051216 IEA cartilage development
GO:0060271 ISS cilium morphogenesis
GO:0060296 ISS regulation of cilium beat frequency involved in ciliary motility

Homologs

ENSEMBL Accession Gene Name Biotype Species E-Value Bit Score
ENSMUST00000034206 Bbs2-001 protein_coding Mus_musculus 0 2442

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