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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: BBS9
Gene Tree: Bbs9

Human
homologs
BBS9, Bardet-Biedl syndrome 9
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 27241
neXtProt AC: NX_Q3SYG4

Human Synonyms: B1, C18, D1, PTHB1

Human Chr (Location): 7p14; chr7:33129244-33635769 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human BBS9

Mutations,
alleles, and
phenotypes
All mutations/alleles(18) : Gene trapped(16) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
Interactions
Bbs9 interacts with 188 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (19 annotations)
Process cell projection organization, cilium assembly, ...
Component BBSome, cell projection, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (131)    Tissues (23)    Images (27)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 125
RT-PCR 6
cDNA source data(43)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase bbs9    NEW 
Molecular
reagents
All nucleic(45) cDNA(43) Primer pair(2)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000031157 (Evidence)
Ensembl Gene Model ENSMUSG00000035919 (Evidence)
Entrez Gene 319845 (Evidence)
UniGene 176725
DFCI TC1630075, TC1617671, TC1579088, TC1592246
DoTS DT.91434856, DT.101735117, DT.94283286, DT.101385069, DT.528877
NIA Mouse Gene Index U010169
Consensus CDS Project CCDS22928.1
International Mouse Phenotyping Consortium Status Bbs9
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(92) RefSeq(20) 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: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(42)
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
Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory