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Bbs2 Gene Detail
Summary
  • Symbol
    Bbs2
  • Name
    Bardet-Biedl syndrome 2 (human)
  • Synonyms
    2410125H22Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2135267
    NCBI Gene: 67378
Location & Maps
more
  • Sequence Map
    Chr8:94067954-94098811 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      30858 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    BBS2, Bardet-Biedl syndrome 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    BBS2, Bardet-Biedl syndrome 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BBS
  • Links
    NCBI Gene ID: 583
    neXtProt AC: NX_Q9BXC9

  • Chr Location
    16q21; chr16:56470389-56520096 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Bbs2 mouse models; 2 with human BBS2 associations

Human Disease Mouse Models
       Bardet-Biedl Syndrome 2; BBS2   OMIM: 615981 View 1 model
       Retinitis Pigmentosa 74; RP74   OMIM: 616562
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    25 phenotypes from 1 allele in 2 genetic backgrounds
    1 phenotype from multigenic genotypes
    3 images
    15 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    15
  • Gene trapped
    13
  • Targeted
    2
  • Incidental Mutations
Homozygous null mice display obesity associated with polyphagia, retinopathy associated with mislocalization of rhodopsin, cilia defects, renal cysts, male sterility, abnormal brain neuroanatomy, reduced salivation and acoustic startle response, an olfactory deficit and abnormal social interaction.
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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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036712 VEGA Gene Model | MGI Sequence Detail 30858 C57BL/6J ±  kb
transcript OTTMUST00000094058 VEGA | MGI Sequence Detail 2947 Not Applicable  
polypeptide OTTMUSP00000052250 VEGA | MGI Sequence Detail 721 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    188 from dbSNP Build 137
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000004666 Bardet-Biedl syndrome 2 protein
  • InterPro Domains
    IPR016616 Bardet-Biedl syndrome 2 protein
    IPR029333 Ciliary BBSome complex subunit 2, C-terminal domain
    IPR029429 Ciliary BBSome complex subunit 2, middle region
    IPR029430 Ciliary BBSome complex subunit 2, N-terminal
    IPR017986 WD40-repeat-containing domain
    IPR015943 WD40/YVTN repeat-like-containing domain
Molecular
Reagents
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  • All nucleic 24
    cDNA 23
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
less
MGI:1914628, MGI:2142541
References
more
  • Summaries
    All 53
    Developmental Gene Expression 4
    Diseases 1
    Gene Ontology 20
    Phenotypes 15
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:224863 Starks RD, et al., Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins. PLoS Genet. 2015 Jun;11(6):e1005311

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
02/02/2016
MGI 6.02
The Jackson Laboratory