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; chr4:123653857-123666098 (+)  GRCh37.p10
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: (7 annotations)

Process	cellular protein metabolic process, chaperone-mediated protein complex assembly
Component	cell projection, cilium
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 Model	OTTMUSG00000007355 (Evidence)
Ensembl Gene Model	ENSMUSG00000051444 (Evidence)
Entrez Gene	241950 (Evidence)
UniGene	32171
DFCI	TC1588016
DoTS	DT.55216451
NIA Mouse Gene Index	U003170
Consensus CDS Project	CCDS38417.1, CCDS57209.1
International Mouse Knockout Project Status	Bbs12

Sequences

Length	Strain/Species
genomic	OTTMUSG00000007355	VEGA Gene Model | MGI Sequence Detail	8900	C57BL/6J
transcript	OTTMUST00000017069	VEGA | MGI Sequence Detail	2433	Not Applicable
polypeptide	OTTMUSP00000051346	VEGA | MGI Sequence Detail	708	Not Applicable

All sequences(24) RefSeq(5) UniProt(2)

Polymorphisms

SNPs(33 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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