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Bbs5
Gene Detail
Symbol

Name
ID
Bbs5
Bardet-Biedl syndrome 5 (human)
MGI:1919819
Synonyms
1700049I01Rik, 2700023J09Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 2
40.91 cM, cytoband C3
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr2:69647171-69667571 bp, + strand
From VEGA annotation of GRCm38

  20401 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:12471  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: Bardet-Biedl syndrome 5 protein/sex-determination protein fem-3
Gene Tree: Bbs5

Human
homologs
Human Homolog BBS5, Bardet-Biedl syndrome 5
NCBI Gene ID 129880
neXtProt AC  NX_Q8N3I7
Human Chr (Location)  2q31.1; chr2:169479496-169506655 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human BBS5
Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(1) Targeted(5)
Incidental mutations (data from APF )
Interactions
Bbs5 interacts with 171 markers (Mir10a, Mir10b, Mir17, ...)
Gene Ontology
(GO)
classifications
Expression
cDNA source data(17)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(17) cDNA(17)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000012987 (Evidence)
Ensembl Gene ModelENSMUSG00000063145 (Evidence)
Entrez Gene72569 (Evidence)
UniGene252136
DFCITC1581681, TC1700898
DoTSDT.40159589, DT.94249396
NIA Mouse Gene IndexU001870
Consensus CDS ProjectCCDS16094.1
International Mouse Knockout Project StatusBbs5
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012987 VEGA Gene Model | MGI Sequence Detail 20401 C57BL/6J ±  kb
transcript OTTMUST00000031285 VEGA | MGI Sequence Detail 1468 Not Applicable 
polypeptide OTTMUSP00000013998 VEGA | MGI Sequence Detail 341 Not Applicable 

For the selected sequences
All sequences(45) RefSeq(4) UniProt(4)
Polymorphisms
SNPs within 2kb(171 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006606 Bardet-Biedl syndrome 5 protein
Protein Ontology PR:000004668 bardet-Biedl syndrome 5 protein
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:207969 Chamling X, et al., The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. PLoS Genet. 2014 Feb;10(2):e1004083
All references(39)
Other
accession IDs
MGI:1920698

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory