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Bbs9
Gene Detail
 Symbol
Name
ID
Bbs9
Bardet-Biedl syndrome 9 (human)
MGI:2442833
Synonyms E130103I17Rik, EST 3159894
Feature Type protein coding gene
Genetic Map
Chromosome 9
9.17 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr9:22475715-22888280 bp, + strand
From VEGA annotation of GRCm38

  412566 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:44480  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Bbs9

Human
homologs
Human Homolog BBS9, Bardet-Biedl syndrome 9
NCBI Gene ID 27241
neXtProt AC  NX_Q3SYG4
Human Synonyms  B1, C18, D1, PTHB1
Human Chr (Location)  7p14; chr7:33129244-33606068 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human BBS9
Alleles
and
phenotypes
All alleles(19) : Gene trapped(17) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process cell projection organization, cilium assembly, ...
Component BBSome, cell projection, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (125)    Tissues (20)    Images (24)
Theiler Stages: 23
Assay TypeResults
RNA in situ 125
cDNA source data(43)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(44) cDNA(43) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000031157 (Evidence)
Ensembl Gene ModelENSMUSG00000035919 (Evidence)
Entrez Gene319845 (Evidence)
UniGene176725
DFCITC1579088, TC1592246, TC1617671, TC1630075
DoTSDT.101385069, DT.101735117, DT.528877, DT.91434856, DT.94283286
NIA Mouse Gene IndexU010169
Consensus CDS ProjectCCDS22928.1
International Mouse Knockout Project StatusBbs9
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031157 VEGA Gene Model | MGI Sequence Detail 412566 C57BL/6J ±  kb
transcript OTTMUST00000077183 VEGA | MGI Sequence Detail 3045 Not Applicable 
polypeptide OTTMUSP00000040759 VEGA | MGI Sequence Detail 885 Not Applicable 

For the selected sequences
All sequences(89) RefSeq(18) UniProt(5)
Polymorphisms PCR(1) : SNPs within 2kb(2064 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR026511 Parathyroid hormone-responsive B1
Protein Ontology PR:000004670 protein PTHB1
References (Earliest) J:62157 Thomas JW, et al., Comparative genome mapping in the sequence-based era: early experience with human chromosome 7. Genome Res. 2000 May;10(5):624-33
(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(41)
Other
accession IDs
MGI:1858602

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
07/15/2014
MGI 5.18
The Jackson Laboratory