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Bbs12 Gene Detail
Summary
  • Symbol
    Bbs12
  • Name
    Bardet-Biedl syndrome 12 (human)
  • Synonyms
    LOC241950, LOC241950, LOC386537
  • Feature Type
    protein coding gene
  • IDs
    MGI:2686651
    NCBI Gene: 241950
  • Gene Overview
    MyGene.info: BBS12
Location & Maps
more
  • Sequence Map
    Chr3:37312554-37321453 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      8900 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 18.41 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    BBS12, Bardet-Biedl syndrome 12
  • Vertebrate Orthologs
    10
  • Human Ortholog
    BBS12, Bardet-Biedl syndrome 12
    Orthology source: HGNC, HomoloGene
  • Synonyms
    C4orf24
  • Links
    NCBI Gene ID: 166379
    neXtProt AC: NX_Q6ZW61

  • Chr Location
    4q27; chr4:122700444-122744943 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 17634
    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: BBS12
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human BBS12 associations

Human Disease Mouse Models
       Bardet-Biedl Syndrome 12; BBS12   OMIM: 615989
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    21 phenotypes from 1 allele in 1 genetic background
    8 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    3
  • Radiation induced
    2
  • Targeted
    1
  • Genomic Mutations
    2 involving Bbs12
  • Incidental Mutations
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
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • cDNA Data
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    3 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000004665 Bardet-Biedl syndrome 12 protein
  • InterPro Domains
    IPR002423 Chaperonin Cpn60/TCP-1 family
    IPR027409 GroEL-like apical domain
    IPR027413 GroEL-like equatorial domain
Molecular
Reagents
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  • All nucleic 8
    cDNA 8

    Microarray probesets 3
Other
Accession IDs
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MGI:2685253, MGI:2685567
References
more
  • Summaries
    All 25
    Gene Ontology 5
    Phenotypes 8
  • 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

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
08/17/2016
MGI 6.05
The Jackson Laboratory