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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. BBS5, Bardet-Biedl syndrome 5
Sequence ID:NM_152384
RefSeqGene ID:NG_011567
Entrez Gene ID:129880
Ensembl ID:ENSG00000163093

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
BARDET-BIEDL SYNDROME 1ARL6
BBS1
BBS10
BBS12
BBS2
BBS4
BBS7
BBS9
CCDC28B
CEP290
MKKS
MKS1
TMEM67
TRIM32
TTC8
WDPCP

Cytogenetic Location (from UniGene)

Cytogenetic Location:2q31.1Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:2: 170355543 - 170363000

 Exon Info From UCSC:
NM_152384

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
5272889Full LengthBC044593Bardet-Biedl syndrome 5

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_689597  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_152384 NP_689597 Q8N3I7 DUF1448

Related Sequences

 
mRNAGenPeptSwissProt
BC044593 AAH44593 Q8N3I7
AY604003 AAT08182 Q8N3I7
AY604004 AAT08183 Q8N3I7
AL834305 CAD38975 Q8N3I7
AM393220 CAL38098  

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens BBS5 NP_689597 M.musculus Bbs5 72569 Gene Info NP_082560 96
R.norvegicus Bbs5 362142   NP_001102053 96
A.gambiae AgaP_AGAP001301 1281875   XP_321845 53
D.melanogaster CG1126 40600   NP_649499 49
C.elegans bbs-5 187516   NP_499272 47

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)