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Bbs12
Gene Detail
 Symbol
Name
ID
Bbs12
Bardet-Biedl syndrome 12 (human)
MGI:2686651
Synonyms LOC241950, LOC241950, LOC386537
Feature Type protein coding gene
Genetic Map
Chromosome 3
18.41 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr3:37312554-37321453 bp, + strand
From VEGA annotation of GRCm38

  8900 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:17634  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Bbs12

Human
homologs
Human Homolog BBS12, Bardet-Biedl syndrome 12
NCBI Gene ID 166379
neXtProt AC  NX_Q6ZW61
Human Synonyms  C4orf24
Human Chr (Location)  4q27; chr4:122732702-122744943 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human BBS12
Alleles
and
phenotypes
All alleles(1) : Targeted(1)
 
Mice homozygous for a targeted allele exhibit enhanced adipogenesis, late onset obesity, increased susceptibility to diet-induced obesity, increased insulin sensitivity, increased glucose usage, and decreased inflammatory response.
 
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process cellular protein metabolic process, chaperone-mediated protein complex assembly, ...
Component cell, cell projection, ...
Function ATP binding, nucleotide binding
External Resources: FuncBase
Expression
cDNA source data(8)
External Resources: GEO   ArrayExpress
Molecular
reagents
All nucleic(8) cDNA(8)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000007355 (Evidence)
Ensembl Gene ModelENSMUSG00000051444 (Evidence)
Entrez Gene241950 (Evidence)
UniGene32171
DFCITC1588016
DoTSDT.55216451
NIA Mouse Gene IndexU003170
Consensus CDS ProjectCCDS38417.1, CCDS57209.1
International Mouse Knockout Project StatusBbs12
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000007355 VEGA Gene Model | MGI Sequence Detail 8900 C57BL/6J ±  kb
transcript OTTMUST00000017069 VEGA | MGI Sequence Detail 2433 Not Applicable 
polypeptide OTTMUSP00000051346 VEGA | MGI Sequence Detail 708 Not Applicable 

For the selected sequences
All sequences(42) RefSeq(23) UniProt(2)
Polymorphisms SNPs within 2kb(106 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002423 Chaperonin Cpn60/TCP-1
InterPro IPR027409 GroEL-like apical domain
InterPro IPR027413 GroEL-like equatorial domain
Protein Ontology PR:000004665 bardet-Biedl syndrome 12 protein
References (Earliest) J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
(Latest) J:191588 Mockel A, et al., Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability. J Biol Chem. 2012 Oct 26;287(44):37483-94
All references(29)
Other
accession IDs
MGI:2685253, MGI:2685567

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory