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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

HCOP human homology predictions: BBS5
Protein SuperFamily: Bardet-Biedl syndrome 5 protein/sex-determination protein fem-3
Gene Tree: Bbs5

Human
homologs
BBS5, Bardet-Biedl syndrome 5
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 129880
neXtProt AC: NX_Q8N3I7

Human Chr (Location): 2q31.1; chr2:169479496-169506655 (+)  GRCh38.p2

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
Literature Summary: (1 records)
cDNA source data(17)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase bbs5 ; ZFIN bbs5    NEW 
Molecular
reagents
All nucleic(17) cDNA(17)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000012987 (Evidence)
Ensembl Gene Model ENSMUSG00000063145 (Evidence)
Entrez Gene 72569 (Evidence)
UniGene 252136
DFCI TC1581681, TC1700898
DoTS DT.40159589, DT.94249396
NIA Mouse Gene Index U001870
Consensus CDS Project CCDS16094.1
International Mouse Phenotyping Consortium Status Bbs5
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(47) RefSeq(6) 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:215449 Eguether T, et al., IFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartment. Dev Cell. 2014;31:279-290
All references(43)
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
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory