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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
  • Alliance
Location &
Maps
more
  • Sequence Map
    Chr3:37312554-37321453 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 18.41 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    3 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2686651
protein coding gene Chr3:37312485-37321453 (.)
129S1/SvImJ MGP_129S1SvImJ_G0027169
protein coding gene Chr3:35163082-35173636 (+)
A/J MGP_AJ_G0027129
protein coding gene Chr3:34463245-34472151 (+)
AKR/J MGP_AKRJ_G0027098
protein coding gene Chr3:35102150-35111096 (+)
BALB/cJ MGP_BALBcJ_G0027141
protein coding gene Chr3:34210664-34219563 (+)
C3H/HeJ MGP_C3HHeJ_G0026884
protein coding gene Chr3:35160303-35169206 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027587
protein coding gene Chr3:36797853-36806752 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024948
protein coding gene Chr3:32132026-32141156 (+)
CAST/EiJ MGP_CASTEiJ_G0026337
protein coding gene Chr3:35030925-35041602 (+)
CBA/J MGP_CBAJ_G0026861
protein coding gene Chr3:37793605-37802505 (+)
DBA/2J MGP_DBA2J_G0026995
protein coding gene Chr3:33905721-33914710 (+)
FVB/NJ MGP_FVBNJ_G0026963
protein coding gene Chr3:33343673-33352572 (+)
LP/J MGP_LPJ_G0027107
protein coding gene Chr3:35942317-35952183 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026982
protein coding gene Chr3:40256913-40268420 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027646
protein coding gene Chr3:34955739-34965171 (+)
PWK/PhJ MGP_PWKPhJ_G0026070
protein coding gene Chr3:33590294-33599335 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025882
protein coding gene Chr3:34317251-34326162 (+)
WSB/EiJ MGP_WSBEiJ_G0026411
protein coding gene Chr3:34980475-34990816 (+)



Homology
more
  • Human Ortholog
    BBS12, Bardet-Biedl syndrome 12
  • Vertebrate Orthologs
    10
  • Human Ortholog
    BBS12, Bardet-Biedl syndrome 12
    Orthology source: HomoloGene, HGNC
  • Synonyms
    C4orf24
  • Links
    NCBI Gene ID: 166379
    neXtProt AC: NX_Q6ZW61
    UniProt: Q6ZW61

  • Chr Location
    4q27; chr4:122700437-122744943 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 17634
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: BBS12
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human BBS12 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000051444 Ensembl Gene Model | MGI Sequence Detail 8900 C57BL/6J ±  kb
transcript ENSMUST00000057975 Ensembl | MGI Sequence Detail 2433 Not Applicable  
polypeptide ENSMUSP00000052179 Ensembl | MGI Sequence Detail 708 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 8
    cDNA 8

    Microarray probesets 3
Other
Accession IDs
less
MGI:2685253, MGI:2685567
References
more
  • Summaries
    All 29
    Diseases 1
    Gene Ontology 5
    Phenotypes 8
  • Earliest
    J:64276 Lyon MF, et al., Dose-response curves for radiation-induced gene mutations in mouse oocytes and their interpretation. Mutat Res. 1979 Nov;63(1):161-73
  • 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
11/06/2018
MGI 6.13
The Jackson Laboratory